SEC14L2

Homo sapiens (Human)

NA

KIAA1658;C22orf6;KIAA1186

NA

Transport protein

Phospholipid binding.Transporter activity.Vitamin E binding.

Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) [MIM:617903]: An autosomal dominant disorder characterized by psychomotor developmental stagnation or regression. NDPLHS manifest in the first years of life as loss of purposeful hand movements, loss of language, and intellectual disability. {ECO:0000269|PubMed:26740508, ECO:0000269|PubMed:28856709, ECO:0000269|PubMed:29369404}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 59 (DEE59) [MIM:617904]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE59 is an autosomal dominant condition characterized by onset of refractory seizures in early infancy. {ECO:0000269|PubMed:28856709, ECO:0000269|PubMed:29100083, ECO:0000269|PubMed:29369404}. The disease is caused by variants affecting the gene represented in this entry.

DB14003; DB14001; DB14002; DB11635; DB11251; DB00163

NA

NA

3D-structure; Activator; Alternative splicing; Cytoplasm; Lipid-binding; Nucleus; Proteomics identification; Reference proteome; Transcription; Transcription regulation; Transport

A,B

31533.3

274

0.1

49.26

8.34

2.81

-10.47

MAOB

Homo sapiens (Human)

MAO-B; Amine oxidase [flavin-containing] B

Flavin monoamine oxidase family

CH-NH(2) donor oxidoreductase

Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOB preferentially degrades benzylamine and phenylethylamine.

Microvascular complications of diabetes 5 (MVCD5) [MIM:612633]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Disease susceptibility is associated with variants affecting the gene represented in this entry. Homozygosity for the Leu-55 allele is strongly associated with the development of retinal disease in diabetic patients.

DB08176; DB02211; DB08516; DB08480; DB01472; DB04307; DB07512; DB07513; DB00915; DB00182; DB06698; DB04889; DB00215; DB09130; DB04147; DB00988; DB01363; DB00668; DB01175; DB02509; DB03147; DB14914; DB00614; DB04818; DB02095; DB01247; DB00601; DB01577; DB01442; DB01171; DB08082; DB02643; DB04677; DB03894; DB08804; DB04820; DB00184; DB04821; DB12612; DB01626; DB00780; DB00191; DB00388; DB01132; DB00721; DB01168; DB01367; DB09363; DB06654; DB01037; DB01104; DB14569; DB09042; DB00752; DB16446; DB09185; DB04832; DB00909

P55212; P28329-3; Q8NI60; Q5RI15; Q92915-2; P22607; Q53GS7; P06396; P01112; O14901; P13473-2; P21397; Q9BVL2; O75400-2; P62826; Q6NTF9-3; Q9Y371; Q7Z699; Q9UMX0; Q9Y649

EC 1.4.3.4

3D-structure; Acetylation; Alternative splicing; Direct protein sequencing; FAD; Flavoprotein; Membrane; Mitochondrion; Mitochondrion outer membrane; Oxidoreductase; Proteomics identification; Reference proteome; Transmembrane; Transmembrane helix

A,B

56019.9

494

0.09

34.81

6.51

-2.2

-10.47

CD1A

Homo sapiens (Human)

hTa1 thymocyteantigen; hTa1 thymocyte antigen; T-cell surfaceantigen T6/Leu-6; T-cell surface antigen T6/Leu-6; CD1a

NA

Immunoglobulin

Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells.

Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269|PubMed:10903931, ECO:0000269|PubMed:10973254, ECO:0000269|PubMed:11015450, ECO:0000269|PubMed:11115378, ECO:0000269|PubMed:12045205, ECO:0000269|PubMed:12358323, ECO:0000269|PubMed:15965979, ECO:0000269|PubMed:24936649, ECO:0000269|PubMed:25187962, ECO:0000269|PubMed:28507310}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pulmonary venoocclusive disease 1, autosomal dominant (PVOD1) [MIM:265450]: A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. {ECO:0000269|PubMed:12446270, ECO:0000269|PubMed:16429395}. The disease is caused by variants affecting the gene represented in this entry.

DB00098

P61769

NA

3D-structure; Adaptive immunity; Cell membrane; Disulfide bond; Endosome; Glycoprotein; Immunity; Immunoglobulin domain; Membrane; Proteomics identification; Reference proteome; Signal; Transmembrane; Transmembrane helix

A

30867.3

270

0.13

37.45

6.16

-4.5

-10.47

DCPS

Homo sapiens (Human)

Scavenger mRNA-decapping enzyme DcpS; Histidine triad protein member5; Hint-related 7meGMP-directed hydrolase; HINT-5; DCS-1; DCPS

HIT family

Acid anhydrides hydrolase

Decapping scavenger enzyme that catalyzes the cleavage of a residual cap structure following the degradation of mRNAs by the 3'->5' exosome-mediated mRNA decay pathway. Hydrolyzes cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG) with up to 10 nucleotide substrates (small capped oligoribonucleotides) and specifically releases 5'-phosphorylated RNA fragments and 7-methylguanosine monophosphate (m7GMP). Cleaves cap analog structures like tri-methyl guanosine nucleoside triphosphate (m3(2,2,7)GpppG) with very poor efficiency. Does not hydrolyze unmethylated cap analog (GpppG) and shows no decapping activity on intact m7GpppG-capped mRNA molecules longer than 25 nucleotides. Does not hydrolyze 7-methylguanosine diphosphate (m7GDP) to m7GMP (PubMed:22985415). May also play a role in the 5'->3 mRNA decay pathway; m7GDP, the downstream product released by the 5'->3' mRNA mediated decapping activity, may be also converted by DCPS to m7GMP (PubMed:14523240). Binds to m7GpppG and strongly to m7GDP. Plays a role in first intron splicing of pre- mRNAs. Inhibits activation-induced cell death.

Al-Raqad syndrome (ARS) [MIM:616459]: A syndrome characterized by delayed psychomotor development, moderate to severe intellectual disability, poor or absent speech, microcephaly, congenital hypotonia, and severe growth delay. {ECO:0000269|PubMed:25701870, ECO:0000269|PubMed:25712129}. The disease is caused by variants affecting the gene represented in this entry.

DB07644; DB07643; DB07642; DB03593; DB01960; DB01649; DB03958

Q96C86; P52292; O15131; O60684

EC 3.6.1.59

3D-structure; Acetylation; Cytoplasm; Direct protein sequencing; Disease variant; Hydrolase; Intellectual disability; mRNA processing; mRNA splicing; Nucleus; Phosphoprotein; Proteomics identification; Reference proteome

B,A

69192.9

597

0.09

54.62

6.12

-9.94

-10.47

IDH1

Homo sapiens (Human)

PICD; NADP(+)-specific ICDH; Isocitrate dehydrogenase [NADP] cytoplasmic; IDP; IDH; Cytosolic NADP-isocitrate dehydrogenase

Isocitrate and isopropylmalate dehydrogenases family

Short-chain dehydrogenases reductase

Catalyses the NADPH-dependent reduction of alpha-ketoglutarate to R(-)-2-hydroxyglutarate (2HG).

Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:19117336, ECO:0000269|PubMed:19935646}. The gene represented in this entry is involved in disease pathogenesis. Mutations affecting Arg-132 are tissue-specific, and suggest that this residue plays a unique role in the development of high-grade gliomas. Mutations of Arg-132 to Cys, His, Leu or Ser abolish magnesium binding and abolish the conversion of isocitrate to alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate. Elevated levels of R(-)-2-hydroxyglutarate are correlated with an elevated risk of malignant brain tumors. {ECO:0000269|PubMed:19935646}.; DISEASE: Genetic variations are associated with cartilaginous tumors such as enchondroma or chondrosarcoma. Mutations of Arg-132 to Cys, Gly or His abolish the conversion of isocitrate to alpha-ketoglutarate. Instead, alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate. {ECO:0000269|PubMed:26161668}.

DB09374; DB01727; DB14568; DB03461; DB16267

P0DP23; P27797; P36957; O75874; Q8TDX7; P16284; P17612; P50454; P37173; Q05086-3

EC 1.1.1.42

3D-structure; Acetylation; Cytoplasm; Direct protein sequencing; Glyoxylate bypass; Magnesium; Manganese; Metal-binding; NADP; Oxidoreductase; Peroxisome; Phosphoprotein; Proteomics identification; Reference proteome; Tricarboxylic acid cycle

A,B

92711.7

823

0.1

26.74

6.42

-4.48

-10.48

LHCGR

Homo sapiens (Human)

Luteinizing hormone-releasing hormone receptor; LSH-R; LHRH receptor; LHCGR; LH/CG-R

G-protein coupled receptor 1 family, FSH/LSH/TSH subfamily

GPCR rhodopsin

Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.

Familial male precocious puberty (FMPP) [MIM:176410]: In FMPP the receptor is constitutively activated. {ECO:0000269|PubMed:11134146, ECO:0000269|PubMed:11391350, ECO:0000269|PubMed:7629248, ECO:0000269|PubMed:7692306, ECO:0000269|PubMed:7714085, ECO:0000269|PubMed:7757065, ECO:0000269|PubMed:8281137, ECO:0000269|PubMed:8829636, ECO:0000269|PubMed:8929952, ECO:0000269|PubMed:9467560, ECO:0000269|PubMed:9661624}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Luteinizing hormone resistance (LHR) [MIM:238320]: An autosomal recessive disorder characterized by unresponsiveness to luteinizing hormone, defective sexual development in males, and defective follicular development and ovulation, amenorrhea and infertility in females. Two forms of the disorder have been defined in males. Type 1 is a severe form characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high luteinizing hormone levels, total lack of responsiveness to luteinizing and chorionic gonadotropin hormones, lack of breast development, and absent development of secondary male sex characteristics. Type 2, a milder form, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. {ECO:0000269|PubMed:12050206, ECO:0000269|PubMed:15372531, ECO:0000269|PubMed:15472221, ECO:0000269|PubMed:19551906, ECO:0000269|PubMed:7719343, ECO:0000269|PubMed:8559204, ECO:0000269|PubMed:9215288, ECO:0000269|PubMed:9514160, ECO:0000269|PubMed:9626144, ECO:0000269|PubMed:9626653}. The disease is caused by variants affecting the gene represented in this entry.

DB06719; DB00050; DB00097; DB09126; DB00014; DB00044; DB00032

NA

NA

3D-structure; Alternative splicing; Cell membrane; Disease variant; Disulfide bond; G-protein coupled receptor; Glycoprotein; Leucine-rich repeat; Lipoprotein; Membrane; Palmitate; Receptor; Reference proteome; Repeat; Signal; Sulfation; Transducer; Transmembrane; Transmembrane helix

R

61996.2

550

0.12

37.67

8.34

5.05

-10.47

CCR2

Homo sapiens (Human)

Monocyte chemoattractant protein 1 receptor; MCP-1-R; Chemokine receptor CCR2B; CMKBR2; CD192; CCR-2; CC-CKR-2; C-C CKR-2

G-protein coupled receptor 1 family

GPCR rhodopsin

Its binding with CCL2 on monocytes and macrophages mediates chemotaxis and migration induction through the activation of the PI3K cascade, the small G protein Rac and lamellipodium protrusion. Also acts as a receptor for the beta-defensin DEFB106A/DEFB106B. Regulates the expression of T-cell inflammatory cytokines and T-cell differentiation, promoting the differentiation of T-cells into T-helper 17 cells (Th17) during inflammation. Faciltates the export of mature thymocytes by enhancing directional movement of thymocytes to sphingosine-1-phosphate stimulation and up-regulation of S1P1R expression; signals through the JAK-STAT pathway to regulate FOXO1 activity leading to an increased expression of S1P1R. Plays an important role in mediating peripheral nerve injury-induced neuropathic pain. Increases NMDA-mediated synaptic transmission in both dopamine D1 and D2 receptor-containing neurons, which may be caused by MAPK/ERK-dependent phosphorylation of GRIN2B/NMDAR2B. Mediates the recruitment of macrophages and monocytes to the injury site following brain injury. Key functional receptor for CCL2 but can also bind CCL7 and CCL12.

Polycystic lung disease (PCLUD) [MIM:219600]: An autosomal recessive disease characterized by pulmonary alveolar proteinosis, marked peribronchovascular and parenchymal lymphocytosis, peribronchiolar pulmonary fibrosis, progressive diffuse parenchymal lung cyst formation and enlargement, progressive obstructive airflow limitation, and recurrent secondary infections. Additional features may include digital clubbing, allergies, and atopic dermatitis. {ECO:0000269|PubMed:38157855}. The disease is caused by variants affecting the gene represented in this entry.

DB05159; DB11758; DB05130; DB12520

Q6S8J3; Q9BW27

NA

3D-structure; Alternative splicing; Cell membrane; Disease variant; Disulfide bond; G-protein coupled receptor; Glycoprotein; Host-virus interaction; Inflammatory response; Membrane; Phosphoprotein; Proteomics identification; Receptor; Reference proteome; Sulfation; Transducer; Transmembrane; Transmembrane helix

A

50270.6

445

0.13

29.96

9.49

17.19

-10.48

CYP2C8

Homo sapiens (Human)

NA

NA

Cytochrome P450 family

Oxidoreductase

Arachidonic acid epoxygenase activity.Aromatase activity.Caffeine oxidase activity.Estrogen 16-alpha-hydroxylase activity.Heme binding.Iron ion binding.Monooxygenase activity.Oxygen binding.

A chromosomal aberration involving BCL2 has been found in chronic lymphatic leukemia. Translocation t(14;18)(q32;q21) with immunoglobulin gene regions. BCL2 mutations found in non-Hodgkin lymphomas carrying the chromosomal translocation could be attributed to the Ig somatic hypermutation mechanism resulting in nucleotide transitions. {ECO:0000269|PubMed:2875799, ECO:0000269|PubMed:3285301}.

DB08607; DB08496; DB14055; DB12001; DB05812; DB15568; DB00918; DB12015; DB01424; DB01118; DB00321; DB00381; DB00613; DB01060; DB17449; DB01217; DB01435; DB11901; DB06605; DB00714; DB01072; DB01076; DB11995; DB00972; DB08822; DB12781; DB13997; DB05015; DB16703; DB06770; DB05229; DB00443; DB12236; DB00307; DB01393; DB13746; DB16536; DB06616; DB12267; DB12151; DB01194; DB01222; DB00921; DB06772; DB08875; DB00201; DB13919; DB00796; DB09061; DB08502; DB00564; DB00482; DB06119; DB00439; DB00608; DB00169; DB09201; DB00501; DB00604; DB12499; DB00349; DB00845; DB00758; DB00257; DB00363; DB00907; DB01394; DB05219; DB00531; DB08912; DB11682; DB00250; DB09183; DB01609; DB01234; DB14649; DB09213; DB00829; DB00586; DB00255; DB00343; DB01184; DB00625; DB11979; DB15444; DB06210; DB13874; DB11718; DB08899; DB00530; DB00783; DB13952; DB13953; DB13954; DB13955; DB13956; DB00402; DB00977; DB14766; DB00973; DB12466; DB04854; DB01023; DB01039; DB16165; DB00544; DB13867; DB08906; DB00588; DB01095; DB11679; DB01241; DB01645; DB11978; DB01218; DB00741; DB14538; DB14539; DB14540; DB14541; DB14542; DB14543; DB14545; DB14544; DB01611; DB12471; DB01050; DB09054; DB01181; DB00619; DB16200; DB01029; DB11633; DB06636; DB00951; DB11757; DB14568; DB09570; DB01221; DB06738; DB01026; DB01009; DB00465; DB00448; DB01259; DB09078; DB12070; DB05667; DB08918; DB00451; DB04725; DB00281; DB17083; DB01583; DB09198; DB06448; DB00836; DB00455; DB12130; DB00678; DB00227; DB09280; DB15935; DB06077; DB08932; DB14921; DB14009; DB00603; DB00784; DB00814; DB00170; DB00532; DB01357; DB00333; DB09241; DB00959; DB00916; DB01110; DB06595; DB00834; DB16236; DB11763; DB00764; DB14512; DB00471; DB00295; DB06510; DB00688; DB01024; DB00486; DB00788; DB09199; DB00622; DB00184; DB01115; DB04868; DB06712; DB12005; DB06670; DB09080; DB16267; DB12513; DB09296; DB00338; DB11632; DB01062; DB12612; DB01229; DB03796; DB05467; DB00617; DB06589; DB08922; DB00850; DB00780; DB01174; DB00946; DB00252; DB01132; DB00554; DB17472; DB08860; DB08901; DB15822; DB14631; DB00635; DB01032; DB00818; DB00205; DB04216; DB00908; DB00468; DB01129; DB00481; DB08896; DB11853; DB14761; DB00912; DB16826; DB00615; DB01045; DB11753; DB01201; DB01220; DB08864; DB08931; DB14840; DB14924; DB00503; DB09200; DB00533; DB00412; DB04847; DB12332; DB00938; DB12543; DB01232; DB00418; DB01037; DB11362; DB15685; DB11689; DB06739; DB00641; DB01261; DB00398; DB15569; DB00421; DB09118; DB00359; DB06729; DB01138; DB00675; DB00799; DB12020; DB09256; DB01079; DB12095; DB15133; DB00857; DB00342; DB08880; DB00624; DB13943; DB13944; DB13946; DB11712; DB00208; DB06137; DB01124; DB01685; DB00214; DB08911; DB00374; DB00755; DB00897; DB12245; DB12808; DB00347; DB00440; DB00197; DB13179; DB11652; DB15328; DB12255; DB15114; DB00862; DB11613; DB08881; DB00661; DB08828; DB09068; DB12026; DB00682; DB00549; DB01198

P13473-2; O75400-2; Q9Y371

1.14.14.1

3D-structure; Alternative splicing; Direct protein sequencing; Endoplasmic reticulum; Heme; Iron; Lipid metabolism; Membrane; Metal-binding; Microsome; Monooxygenase; Oxidoreductase; Phosphoprotein; Proteomics identification; Reference proteome; Steroid metabolism

A

52511

463

0.1

37.03

8.6

6.74

-10.47

DAO

Homo sapiens (Human)

Daminoacid oxidase; DAMOX; DAAO

DAMOX/DASOX family

CH-NH(2) donor oxidoreductase

Regulates the level of the neuromodulator D-serine in the brain. Has high activity towards D-DOPA and contributes to dopamine synthesis. Could act as a detoxifying agent which removes D-amino acids accumulated during aging. Acts on a variety of D-amino acids with a preference for those having small hydrophobic side chains followed by those bearing polar, aromatic, and basic groups. Does not act on acidic amino acids.

Schizophrenia (SCZD) [MIM:181500]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269|PubMed:12364586}. Disease susceptibility may be associated with variants affecting the gene represented in this entry.; DISEASE: Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269|PubMed:20368421, ECO:0000269|PubMed:20538972, ECO:0000269|PubMed:22203986, ECO:0000269|PubMed:23219954, ECO:0000269|PubMed:24138986, ECO:0000269|PubMed:25701391, ECO:0000269|PubMed:37558109, ECO:0000269|PubMed:38035964, ECO:0000269|PubMed:38134563}. Disease susceptibility may be associated with variants affecting the gene represented in this entry.

DB07979; DB02838; DB04166; DB03793; DB03225; DB03147; DB03531; DB02988

Q9P2K6; O43741

EC 1.4.3.3

3D-structure; Amyotrophic lateral sclerosis; Cell projection; Cytoplasm; Disease variant; FAD; Flavoprotein; Neurodegeneration; Oxidoreductase; Peroxisome; Phosphoprotein; Proteomics identification; Reference proteome; S-nitrosylation; Schizophrenia; Secreted; Synapse

A,B

38654.6

340

0.11

29.13

6.18

-4.45

-10.46

ADORA2A

Homo sapiens (Human)

Adenosine receptor A2a; ADORA2; A2a Adenosine receptor; A(2A) adenosine receptor

G-protein coupled receptor 1 family

GPCR rhodopsin

The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Receptor for adenosine.

Intellectual developmental disorder, autosomal recessive 59 (MRT59) [MIM:617323]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:26416544}. The disease is caused by variants affecting the gene represented in this entry.

DB08770; DB14132; DB00640; DB05009; DB05191; DB04853; DB00201; DB04932; DB09273; DB00651; DB00824; DB11757; DB17080; DB00555; DB00358; DB00683; DB01303; DB00806; DB06213; DB01412; DB00277

P30542; P29274; P29275; O15155; P21554; Q99418; O15354; Q7Z6G3; O43759-2; Q13107; Q5T9L3-1; P31424-1

NA

3D-structure; Cell membrane; Disulfide bond; G-protein coupled receptor; Glycoprotein; Membrane; Proteomics identification; Receptor; Reference proteome; Transducer; Transmembrane; Transmembrane helix; Ubl conjugation

A

32419.4

296

0.12

39.04

8.77

7.19

-10.46

GRIN2A

Homo sapiens (Human)

NR2A; NMDA receptor NR2A; N-methyl D-aspartate receptor subtype 2A; HNR2A; Glutamate receptor ionotropic, NMDA 2A; Glutamate [NMDA] receptor subunit epsilon-1; GluN2A

Glutamate-gated ion channel (TC 1.A.10.1) family, NR1/GRIN1 subfamily

Glutamate-gated ion channel

Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition; channels containing GRIN1 and GRIN2A have higher sensitivity to glutamate and faster kinetics than channels formed by GRIN1 and GRIN2B. Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning. Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium.

Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]: An autosomal dominant neurodevelopmental disorder characterized by severe intellectual disability and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients. {ECO:0000269|PubMed:21376300, ECO:0000269|PubMed:25167861, ECO:0000269|PubMed:25864721, ECO:0000269|PubMed:27164704, ECO:0000269|PubMed:28095420, ECO:0000269|PubMed:28228639, ECO:0000269|PubMed:28389307, ECO:0000269|PubMed:38538865}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (NDHMSR) [MIM:617820]: An autosomal recessive neurodevelopmental disorder characterized by severe intellectual disability and psychomotor developmental delay, involuntary and stereotypic movements, spasticity, and inability to walk without support. Intractable seizures manifest in some patients. {ECO:0000269|PubMed:27164704, ECO:0000269|PubMed:28051072}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 101 (DEE101) [MIM:619814]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE101 is an autosomal recessive, severe form characterized by onset of seizures in early infancy. Death in infancy may occur. {ECO:0000269|PubMed:27164704, ECO:0000269|PubMed:34611970}. The disease is caused by variants affecting the gene represented in this entry.

DB01931; DB00659; DB06151; DB08838; DB01238; DB00289; DB05824; DB04620; DB03929; DB00647; DB00843; DB00228; DB11823; DB13146; DB06741; DB00142; DB00874; DB08954; DB06738; DB09409; DB09481; DB01043; DB00454; DB00333; DB04896; DB01173; DB00312; DB01174; DB01708; DB00418; DB00193

P05067; P35637; Q12879-1; Q13224; Q62936

NA

3D-structure; Alternative splicing; Calcium; Cell membrane; Disease variant; Disulfide bond; Epilepsy; Glycoprotein; Intellectual disability; Ion channel; Ion transport; Ligand-gated ion channel; Magnesium; Membrane; Metal-binding; Phosphoprotein; Postsynaptic cell membrane; Proteomics identification; Receptor; Reference proteome; Signal; Synapse; Transmembrane; Transmembrane helix; Transport; Zinc

B

63014.6

557

0.1

28.81

8.59

7.66

-10.47

Bact coaA

Escherichia coli (strain K12)

Rts protein; Pantothenic acid kinase; Pantothenate kinase

Prokaryotic pantothenate kinase family

Kinase

Phosphorylates pantothenate (vitamin B5) to form 4'-phosphopantothenate at the expense of a molecule of adenosine triphosphate (ATP). It is the rate-limiting step in the biosynthesis of CoA.

Leucine-induced hypoglycemia (LIH) [MIM:240800]: Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine. {ECO:0000269|PubMed:15356046}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450]: A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF1 is the most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF1 inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:10202168, ECO:0000269|PubMed:10204114, ECO:0000269|PubMed:10334322, ECO:0000269|PubMed:10615958, ECO:0000269|PubMed:11018078, ECO:0000269|PubMed:11226335, ECO:0000269|PubMed:11867634, ECO:0000269|PubMed:12364426, ECO:0000269|PubMed:12941782, ECO:0000269|PubMed:15562009, ECO:0000269|PubMed:15579781, ECO:0000269|PubMed:15807877, ECO:0000269|PubMed:16357843, ECO:0000269|PubMed:16429405, ECO:0000269|PubMed:24814349, ECO:0000269|PubMed:25720052, ECO:0000269|PubMed:8650576, ECO:0000269|PubMed:8751851, ECO:0000269|PubMed:8923011, ECO:0000269|PubMed:9618169, ECO:0000269|PubMed:9648840, ECO:0000269|PubMed:9769320}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857]: A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM3 patients may also have developmental delay, muscle weakness, and epilepsy. PNDM3 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. {ECO:0000269|PubMed:16613899, ECO:0000269|PubMed:16885549, ECO:0000269|PubMed:17213273, ECO:0000269|PubMed:17668386}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence. {ECO:0000269|PubMed:16885549}. The disease is caused by variants affecting the gene represented in this entry.

DB01992; DB01783; DB04395

NA

EC 2.7.1.33

3D-structure; ATP-binding; Coenzyme A biosynthesis; Cytoplasm; Kinase; Nucleotide-binding; Reference proteome; Transferase

A

34858.6

302

0.1

43.48

6.32

-2.67

-10.46

CYP19A1

Homo sapiens (Human)

P-450AROM; Estrogen synthetase; Estrogen synthase; Cytochrome P450 19A1; Cytochrome P-450AROM; CYPXIX; CYP19; CYAR; ARO1

Cytochrome P450 family

Paired donor oxygen oxidoreductase

Catalyzes the formation of aromatic C18 estrogens from C19 androgens.

Aromatase excess syndrome (AEXS) [MIM:139300]: An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Aromatase deficiency (AROD) [MIM:613546]: A rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries. {ECO:0000269|PubMed:24705274, ECO:0000269|PubMed:8265607, ECO:0000269|PubMed:8530621, ECO:0000269|PubMed:9211678}. The disease is caused by variants affecting the gene represented in this entry.

DB02342; DB00357; DB01217; DB00443; DB04794; DB06719; DB13009; DB00389; DB00269; DB00856; DB04839; DB01406; DB00255; DB00858; DB01127; DB14598; DB14600; DB00974; DB06423; DB00783; DB00655; DB00926; DB00990; DB04539; DB01026; DB01006; DB05667; DB00358; DB01065; DB00333; DB06710; DB01110; DB16236; DB05749; DB08804; DB03467; DB00184; DB09389; DB01229; DB05804; DB00481; DB05875; DB02901; DB06147; DB00675; DB00894; DB00624; DB13943; DB13944; DB13946; DB01007; DB00197

NA

EC 1.14.14.14

3D-structure; Alternative splicing; Direct protein sequencing; Disease variant; Endoplasmic reticulum; Heme; Iron; Lipid metabolism; Membrane; Metal-binding; Microsome; Monooxygenase; Oxidoreductase; Proteomics identification; Pseudohermaphroditism; Reference proteome; Transmembrane; Transmembrane helix

A

52141.6

452

0.1

36.02

8.45

4.41

-10.44

TPH1

Homo sapiens (Human)

Tryptophan 5-monooxygenase 1; TRPH; TPRH

Biopterin-dependent aromatic amino acid hydroxylase family

Paired donor oxygen oxidoreductase

Responsible for addition of the -HO group (hydroxylation) to the 5 position to form the amino acid 5-hydroxytryptophan (5-HTP), which is the initial and rate-limiting step in the synthesis of the neurotransmitter serotonin.

Tyrosinemia 2 (TYRSN2) [MIM:276600]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and intellectual disability. {ECO:0000269|PubMed:1357662}. The disease is caused by variants affecting the gene represented in this entry.

DB05199; DB00360; DB12095; DB00150

Q14457; Q96IK1-2; Q9UKB3; Q9H8Y8; O43586; O95789-4

EC 1.14.16.4

3D-structure; Alternative splicing; Iron; Metal-binding; Monooxygenase; Oxidoreductase; Phosphoprotein; Proteomics identification; Reference proteome; Serotonin biosynthesis; Ubl conjugation

A

31138.2

271

0.13

43.43

6.73

-0.86

-10.44

CYP1A2

Homo sapiens (Human)

NA

NA

Cytochrome P450 family

Oxidoreductase

Aromatase activity.Caffeine oxidase activity.Demethylase activity.Electron carrier activity.Enzyme binding.Heme binding.Iron ion binding.Monooxygenase activity.Oxidoreductase activity.Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen.Oxygen binding.

Myeloperoxidase deficiency (MPOD) [MIM:254600]: A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis. {ECO:0000269|PubMed:37198333, ECO:0000269|PubMed:7904599, ECO:0000269|PubMed:8142659, ECO:0000269|PubMed:8621627, ECO:0000269|PubMed:9354683, ECO:0000269|PubMed:9637725}. The disease is caused by variants affecting the gene represented in this entry.

DB08496; DB01667; DB14132; DB04356; DB02489; DB11932; DB12001; DB05812; DB13573; DB01418; DB00316; DB15568; DB06594; DB00518; DB05396; DB00969; DB07453; DB01424; DB01223; DB01118; DB00321; DB00261; DB01217; DB01435; DB06605; DB05676; DB06413; DB06216; DB01072; DB15011; DB06442; DB06626; DB00993; DB00972; DB13203; DB05015; DB16703; DB06769; DB01086; DB06770; DB06771; DB06732; DB00195; DB04889; DB11967; DB13975; DB00188; DB12151; DB01558; DB14018; DB13812; DB00201; DB09061; DB14737; DB11791; DB06774; DB00564; DB06016; DB01136; DB12814; DB00477; DB00356; DB01166; DB00501; DB01012; DB00568; DB00827; DB00537; DB00215; DB12499; DB14025; DB00349; DB01242; DB00575; DB00758; DB00363; DB00286; DB11672; DB14635; DB00924; DB08912; DB00851; DB06292; DB01254; DB01609; DB01151; DB16650; DB12161; DB01191; DB00633; DB11994; DB00586; DB11511; DB12945; DB00280; DB01184; DB09167; DB05928; DB01142; DB09273; DB00470; DB00476; DB00625; DB15444; DB06210; DB13874; DB11718; DB00467; DB11404; DB00530; DB00783; DB13952; DB13953; DB13954; DB13955; DB13956; DB00655; DB04574; DB13592; DB00330; DB00898; DB00977; DB00773; DB01628; DB00927; DB04854; DB01482; DB00574; DB12265; DB15669; DB01195; DB08972; DB04841; DB00544; DB00472; DB00499; DB00176; DB01320; DB00998; DB14029; DB06160; DB01044; DB01241; DB01155; DB01645; DB01381; DB00986; DB00365; DB00400; DB05708; DB00629; DB00502; DB01094; DB14999; DB04076; DB11737; DB00619; DB00458; DB11564; DB01306; DB09456; DB09564; DB01307; DB00047; DB01309; DB00030; DB00046; DB11567; DB00071; DB11568; DB05258; DB00034; DB00105; DB15131; DB00011; DB00018; DB00069; DB00060; DB00068; DB00033; DB00951; DB11757; DB09570; DB01026; DB01097; DB16217; DB09078; DB01002; DB05667; DB00281; DB12406; DB09198; DB04948; DB00978; DB06448; DB16220; DB01601; DB00455; DB04871; DB06077; DB01283; DB00772; DB00934; DB06234; DB14009; DB00784; DB01065; DB00170; DB00454; DB00532; DB00333; DB00763; DB00553; DB01028; DB09241; DB01233; DB00379; DB06148; DB01388; DB06595; DB00370; DB16236; DB00745; DB11763; DB00218; DB06510; DB14011; DB00461; DB00607; DB00779; DB00788; DB06600; DB00238; DB06803; DB00184; DB01115; DB11793; DB00435; DB05115; DB00717; DB01059; DB00540; DB05990; DB01165; DB00334; DB16267; DB00338; DB00904; DB11632; DB11443; DB01173; DB11837; DB09330; DB01303; DB11697; DB00377; DB00715; DB06589; DB11774; DB00487; DB00008; DB00022; DB09122; DB13634; DB00806; DB11198; DB08883; DB00850; DB03783; DB01174; DB00388; DB00252; DB11450; DB01100; DB13823; DB04951; DB17472; DB11642; DB08910; DB15822; DB01058; DB01087; DB00794; DB00420; DB09288; DB01182; DB06479; DB00818; DB00571; DB13449; DB11892; DB04216; DB00908; DB00468; DB01129; DB00980; DB09290; DB00863; DB01367; DB00409; DB02709; DB13174; DB01045; DB11753; DB00740; DB14924; DB00503; DB00533; DB01656; DB15119; DB00268; DB00296; DB00412; DB00817; DB12332; DB13772; DB06654; DB11491; DB00418; DB01037; DB11689; DB06290; DB13261; DB15093; DB00052; DB00398; DB01208; DB09118; DB00428; DB06820; DB00382; DB00675; DB06083; DB09071; DB05488; DB09256; DB01079; DB01405; DB00857; DB08880; DB11712; DB01412; DB00277; DB00730; DB01623; DB00208; DB06137; DB00697; DB01056; DB06264; DB00752; DB00384; DB12245; DB00831; DB15442; DB00440; DB00685; DB08867; DB14989; DB13609; DB06235; DB00313; DB08881; DB00661; DB09185; DB12026; DB00682; DB02134; DB00549; DB00744; DB00315; DB00425; DB09225; DB09120

O95870

1.14.14.1; 4.2.1.152

3D-structure; Direct protein sequencing; Endoplasmic reticulum; Fatty acid metabolism; Glycoprotein; Heme; Iron; Lipid metabolism; Lyase; Membrane; Metal-binding; Microsome; Monooxygenase; Oxidoreductase; Proteomics identification; Reference proteome; Steroid metabolism; Sterol metabolism

A

54475

480

0.1

40.43

9.16

9.89

-10.44

AKR1D1

Homo sapiens (Human)

NA

SRD5B1

Aldo/keto reductase family

Oxidoreductase

Aldo-keto reductase (NADP) activity.Delta4-3-oxosteroid 5beta-reductase activity.Steroid binding.

Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]: A condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. {ECO:0000269|PubMed:12970144, ECO:0000269|PubMed:15030995, ECO:0000269|PubMed:19175828, ECO:0000269|PubMed:20522910}. The disease is caused by variants affecting the gene represented in this entry.

DB07557; DB07447; DB00548; DB01216; DB00741; DB06077; DB00717

Q04828

1.3.1.3

3D-structure; Alternative splicing; Bile acid catabolism; Cytoplasm; Disease variant; Intrahepatic cholestasis; Lipid degradation; Lipid metabolism; NADP; Oxidoreductase; Proteomics identification; Reference proteome; Steroid metabolism

A,B

37245.3

325

0.1

36.43

7.26

0.62

-10.43

GRIN2A

Homo sapiens (Human)

NR2A; NMDA receptor NR2A; N-methyl D-aspartate receptor subtype 2A; HNR2A; Glutamate receptor ionotropic, NMDA 2A; Glutamate [NMDA] receptor subunit epsilon-1; GluN2A

Glutamate-gated ion channel (TC 1.A.10.1) family, NR1/GRIN1 subfamily

Glutamate-gated ion channel

Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition; channels containing GRIN1 and GRIN2A have higher sensitivity to glutamate and faster kinetics than channels formed by GRIN1 and GRIN2B. Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning. Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium.

Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]: An autosomal dominant neurodevelopmental disorder characterized by severe intellectual disability and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients. {ECO:0000269|PubMed:21376300, ECO:0000269|PubMed:25167861, ECO:0000269|PubMed:25864721, ECO:0000269|PubMed:27164704, ECO:0000269|PubMed:28095420, ECO:0000269|PubMed:28228639, ECO:0000269|PubMed:28389307, ECO:0000269|PubMed:38538865}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (NDHMSR) [MIM:617820]: An autosomal recessive neurodevelopmental disorder characterized by severe intellectual disability and psychomotor developmental delay, involuntary and stereotypic movements, spasticity, and inability to walk without support. Intractable seizures manifest in some patients. {ECO:0000269|PubMed:27164704, ECO:0000269|PubMed:28051072}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 101 (DEE101) [MIM:619814]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE101 is an autosomal recessive, severe form characterized by onset of seizures in early infancy. Death in infancy may occur. {ECO:0000269|PubMed:27164704, ECO:0000269|PubMed:34611970}. The disease is caused by variants affecting the gene represented in this entry.

DB01931; DB00659; DB06151; DB08838; DB01238; DB00289; DB05824; DB04620; DB03929; DB00647; DB00843; DB00228; DB11823; DB13146; DB06741; DB00142; DB00874; DB08954; DB06738; DB09409; DB09481; DB01043; DB00454; DB00333; DB04896; DB01173; DB00312; DB01174; DB01708; DB00418; DB00193

P05067; P35637; Q12879-1; Q13224; Q62936

NA

3D-structure; Alternative splicing; Calcium; Cell membrane; Disease variant; Disulfide bond; Epilepsy; Glycoprotein; Intellectual disability; Ion channel; Ion transport; Ligand-gated ion channel; Magnesium; Membrane; Metal-binding; Phosphoprotein; Postsynaptic cell membrane; Proteomics identification; Receptor; Reference proteome; Signal; Synapse; Transmembrane; Transmembrane helix; Transport; Zinc

B

53395.6

469

0.11

29.84

8.72

5.65

-10.43

PTGR2

Homo sapiens (Human)

NA

ZADH1

NADP-dependent oxidoreductase L4BD family

Oxidoreductase

13-prostaglandin reductase activity.15-oxoprostaglandin 13-oxidase activity.

Long QT syndrome 10 (LQT10) [MIM:611819]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269|PubMed:17592081}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Atrial fibrillation, familial, 17 (ATFB17) [MIM:611819]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:23604097}. The disease is caused by variants affecting the gene represented in this entry.

DB07177; DB00328

Q7L4P6

1.3.1.48

3D-structure; Alternative splicing; Cytoplasm; Lipid metabolism; NADP; Oxidoreductase; Proteomics identification; Reference proteome

A

38385.4

350

0.07

36.68

5.27

-9

-10.43

MAP3K9

Homo sapiens (Human)

PRKE1; Mitogen-activated protein kinase kinase kinase 9; MLK1

Protein kinase superfamily, STE Ser/Thr protein kinase family, MAP kinase kinase kinase subfamily

Kinase

Plays an important role in the cascades of cellular responses evoked by changes in the environment. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade through the phosphorylation of MAP2K4/MKK4 and MAP2K7/MKK7 which in turn activate the JNKs. The MKK/JNK signaling pathway regulates stress response via activator protein-1 (JUN) and GATA4 transcription factors. Plays also a role in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis. Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway.

May play a role in esophageal cancer susceptibility and/or development.

DB08703; DB12010

P08238; Q92993; Q8TAP4-4; P17252; Q15047-2; P62258; P61981

EC 2.7.11.25

3D-structure; Alternative splicing; Apoptosis; ATP-binding; Kinase; Nucleotide-binding; Phosphoprotein; Proteomics identification; Reference proteome; Repeat; Serine/threonine-protein kinase; SH3 domain; Stress response; Transcription; Transcription regulation; Transferase

A

27173.5

245

0.09

38.04

5.64

-3.89

-10.44

CYP3A4

Homo sapiens (Human)

Taurochenodeoxycholate 6-alpha-hydroxylase; Quinine 3-monooxygenase; P450-PCN1; Nifedipine oxidase; NF-25; HLp; Cytochrome P450-PCN1; Cytochrome P450 NF-25; Cytochrome P450 HLp; Cytochrome P450 3A4; C

Cytochrome P450 family

Paired donor oxygen oxidoreductase

In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It performs a variety of oxidation reactions (e. g. caffeine 8-oxidation, omeprazole sulphoxidation, midazolam 1'-hydroxylation and midazolam 4-hydroxylation) of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,8-cineole 2-exo-monooxygenase. The enzyme also hydroxylates etoposide. Catalyzes 4-beta-hydroxylation of cholesterol. May catalyze 25-hydroxylation of cholesterol in vitro. Catalyzes sulfoxidation of the anthelmintics albendazole and fenbendazole. Cytochromes P450 are a group of heme-thiolate monooxygenases.

Vitamin D-dependent rickets 3 (VDDR3) [MIM:619073]: An autosomal dominant disorder of vitamin D metabolism resulting in early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to parent and activated forms of vitamin D. {ECO:0000269|PubMed:29461981}. The gene represented in this entry is involved in disease pathogenesis.

DB08496; DB14055; DB12537; DB12629; DB01456; DB04070; DB11919; DB12515; DB11932; DB12001; DB05812; DB14973; DB11703; DB01418; DB00316; DB00819; DB15568; DB00546; DB08838; DB00518; DB00240; DB00041; DB04630; DB00802; DB00346; DB09026; DB00918; DB06203; DB00969; DB12015; DB14003; DB00404; DB06403; DB06742; DB13141; DB00288; DB00357; DB01424; DB01223; DB01118; DB00321; DB00381; DB00701; DB01217; DB01536; DB01435; DB11901; DB06605; DB00714; DB05676; DB00673; DB01352; DB09229; DB00278; DB01238; DB14185; DB06413; DB01169; DB06697; DB12597; DB06216; DB00637; DB11586; DB01072; DB16098; DB01076; DB01117; DB15011; DB06237; DB15233; DB06442; DB11995; DB06318; DB06626; DB00972; DB09230; DB04957; DB00207; DB12781; DB13997; DB04975; DB01483; DB11817; DB09227; DB00394; DB08903; DB05015; DB16703; DB15463; DB13488; DB09231; DB00865; DB01244; DB15982; DB00443; DB14669; DB12236; DB00307; DB01393; DB01128; DB11799; DB04794; DB00905; DB13746; DB16536; DB00612; DB13975; DB09223; DB08873; DB00188; DB00559; DB06616; DB07348; DB08870; DB09128; DB12267; DB01194; DB05541; DB01200; DB09017; DB11752; DB01222; DB00297; DB00921; DB00490; DB01008; DB09173; DB06772; DB00248; DB08875; DB00201; DB04886; DB00136; DB08907; DB01152; DB09061; DB14737; DB12218; DB11791; DB08502; DB06774; DB00564; DB11383; DB11960; DB06016; DB13835; DB01136; DB14984; DB06634; DB00520; DB01333; DB00482; DB06119; DB09063; DB00439; DB06419; DB00185; DB06777; DB00446; DB00475; DB13528; DB00608; DB00856; DB01114; DB00477; DB00356; DB00169; DB01410; DB09201; DB09232; DB01166; DB00501; DB01012; DB00568; DB00537; DB00604; DB00215; DB01211; DB12499; DB04920; DB01190; DB00349; DB11750; DB01013; DB13158; DB14652; DB00845; DB00636; DB06470; DB01242; DB01068; DB00575; DB00758; DB13843; DB00628; DB01559; DB00257; DB00363; DB09065; DB05239; DB00907; DB00318; DB01394; DB06342; DB00872; DB00286; DB12483; DB04652; DB01285; DB14681; DB01380; DB13003; DB08865; DB11672; DB14635; DB04838; DB00924; DB00531; DB00091; DB04839; DB00987; DB08912; DB09102; DB11963; DB01764; DB01406; DB11779; DB06292; DB04884; DB11682; DB00250; DB15031; DB00496; DB09234; DB12941; DB01264; DB09183; DB01254; DB00694; DB01609; DB11921; DB11943; DB11637; DB00705; DB13857; DB01151; DB00304; DB01260; DB06780; DB01134; DB06700; DB12161; DB01234; DB14649; DB11487; DB09555; DB05351; DB04856; DB14068; DB00514; DB00647; DB14063; DB11994; DB00829; DB00586; DB00485; DB09123; DB00255; DB09095; DB06781; DB01396; DB11274; DB01551; DB11273; DB13345; DB13385; DB00320; DB00343; DB01093; DB08995; DB13347; DB00954; DB00280; DB00822; DB02520; DB01248; DB00204; DB00757; DB08930; DB01184; DB00843; DB11400; DB12301; DB06446; DB05928; DB00590; DB01142; DB00997; DB00254; DB00470; DB04855; DB01395; DB00476; DB11952; DB00378; DB11742; DB14240; DB01127; DB14598; DB14600; DB00625; DB09235; DB06374; DB11979; DB11574; DB00216; DB15444; DB09039; DB09101; DB14064; DB13874; DB11718; DB13007; DB11986; DB08899; DB08992; DB00751; DB00668; DB00700; DB12266; DB01873; DB11405; DB03515; DB02187; DB12329; DB12147; DB01049; DB01253; DB00696; DB00530; DB00199; DB01175; DB11823; DB14575; DB09119; DB00736; DB01215; DB09381; DB12235; DB00783; DB13952; DB13953; DB13954; DB13955; DB13956; DB01196; DB00655; DB04574; DB00402; DB00330; DB00898; DB00977; DB00593; DB08794; DB01466; DB00823; DB09166; DB00294; DB00773; DB01628; DB14766; DB06414; DB13866; DB01590; DB00990; DB00973; DB12500; DB00949; DB01023; DB08980; DB00574; DB00813; DB06702; DB12265; DB08874; DB01216; DB16165; DB13961; DB04908; DB00301; DB00196; DB00687; DB00663; DB04841; DB00180; DB01544; DB00591; DB01047; DB08971; DB00324; DB00472; DB08970; DB14634; DB09378; DB14637; DB00846; DB00690; DB13338; DB04842; DB00499; DB13867; DB08906; DB00588; DB01095; DB00176; DB12307; DB08905; DB01319; DB06717; DB14019; DB01320; DB12010; DB11796; DB11679; DB00947; DB02703; DB15149; DB00674; DB12923; DB05087; DB00317; DB01241; DB01645; DB12184; DB06730; DB11619; DB12141; DB01381; DB11978; DB13879; DB00143; DB01016; DB08909; DB00986; DB05814; DB00889; DB10534; DB11575; DB00365; DB00400; DB01018; DB06786; DB01218; DB13728; DB00502; DB01159; DB05212; DB01275; DB00956; DB00769; DB00741; DB14538; DB14539; DB14540; DB14541; DB14542; DB14543; DB14545; DB14544; DB01611; DB14570; DB06789; DB00557; DB12471; DB09053; DB01050; DB11737; DB09054; DB01181; DB04946; DB00619; DB09262; DB00458; DB00724; DB05039; DB08953; DB00808; DB00224; DB06370; DB11886; DB13293; DB01029; DB00762; DB11633; DB06636; DB00951; DB00982; DB00270; DB11757; DB01167; DB09083; DB08820; DB00602; DB14568; DB04845; DB09570; DB01221; DB01587; DB06738; DB01026; DB09309; DB05903; DB09236; DB06218; DB06791; DB00448; DB01259; DB06685; DB14723; DB12825; DB11951; DB15673; DB16217; DB09078; DB00528; DB11560; DB06469; DB12070; DB01006; DB01227; DB09237; DB01002; DB06282; DB05667; DB00825; DB08918; DB00367; DB00281; DB13766; DB08882; DB17083; DB01583; DB00589; DB09198; DB14065; DB08827; DB01206; DB06448; DB16222; DB00836; DB01601; DB00455; DB00186; DB04871; DB12130; DB09195; DB12089; DB00678; DB14596; DB00227; DB09212; DB08933; DB09280; DB06077; DB06708; DB08815; DB12674; DB12474; DB04829; DB13074; DB08932; DB09238; DB16226; DB04835; DB06234; DB14921; DB00643; DB14009; DB09124; DB00603; DB00253; DB00358; DB00351; DB11529; DB14659; DB00814; DB00170; DB00454; DB09383; DB01071; DB01357; DB04817; DB00333; DB04833; DB00763; DB00563; DB01028; DB09241; DB00353; DB00959; DB14644; DB12952; DB06710; DB00247; DB01233; DB00264; DB00916; DB01011; DB15489; DB00379; DB06148; DB01388; DB01110; DB00683; DB13456; DB06595; DB00834; DB04896; DB13287; DB08893; DB11792; DB00370; DB12489; DB16236; DB06587; DB00648; DB01204; DB16390; DB00745; DB11763; DB00764; DB14512; DB00471; DB00295; DB09205; DB00688; DB01024; DB11605; DB00486; DB14011; DB00607; DB12092; DB11691; DB06230; DB09049; DB01183; DB00731; DB04861; DB01149; DB00220; DB11828; DB09199; DB09048; DB00238; DB00627; DB00622; DB02701; DB00184; DB01115; DB09239; DB04868; DB09240; DB06712; DB04743; DB00393; DB09079; DB16691; DB12005; DB00401; DB01595; DB01054; DB00435; DB11636; DB13981; DB06713; DB14678; DB00717; DB09371; DB01059; DB00957; DB09389; DB00540; DB06174; DB06152; DB00104; DB06670; DB00334; DB09074; DB11442; DB14881; DB00768; DB16267; DB12513; DB09568; DB00338; DB00904; DB11130; DB04911; DB01083; DB01173; DB11837; DB09330; DB04938; DB13500; DB00776; DB12532; DB00239; DB01062; DB00497; DB06412; DB01192; DB12612; DB01229; DB11697; DB09073; DB01267; DB00377; DB05467; DB06603; DB00213; DB00617; DB01384; DB08439; DB00910; DB09297; DB00715; DB06663; DB03010; DB06589; DB00082; DB15102; DB13791; DB00312; DB11198; DB08883; DB01186; DB01074; DB08922; DB00850; DB12978; DB03783; DB00780; DB01174; DB00946; DB00191; DB00812; DB00252; DB13878; DB01085; DB05316; DB00337; DB01100; DB06762; DB09090; DB01132; DB13941; DB12582; DB01621; DB04951; DB17472; DB11642; DB04977; DB12240; DB08910; DB08901; DB12016; DB01263; DB05478; DB15822; DB01411; DB06209; DB01588; DB01058; DB01130; DB00860; DB15566; DB14633; DB14631; DB00635; DB14646; DB13208; DB02789; DB04825; DB05154; DB01087; DB00794; DB01032; DB00396; DB00420; DB13602; DB09288; DB01182; DB12278; DB00571; DB06480; DB00545; DB01589; DB04216; DB01224; DB01103; DB13685; DB00908; DB00468; DB01369; DB12874; DB01129; DB00481; DB00980; DB00863; DB00243; DB00234; DB08896; DB11853; DB06458; DB14761; DB00409; DB00912; DB16826; DB02709; DB01256; DB13174; DB11730; DB06233; DB00615; DB04934; DB01045; DB11753; DB01201; DB01220; DB08864; DB12457; DB00896; DB06155; DB08931; DB14840; DB15305; DB00734; DB14924; DB00503; DB06228; DB09200; DB00533; DB01656; DB13409; DB09291; DB06176; DB00296; DB00412; DB05271; DB00778; DB12332; DB06201; DB11614; DB01698; DB08877; DB06654; DB12391; DB01001; DB00938; DB12543; DB01232; DB11805; DB11767; DB06335; DB00747; DB12834; DB14583; DB11459; DB01037; DB05885; DB11362; DB11942; DB15685; DB11689; DB06731; DB06739; DB06144; DB01104; DB01236; DB01105; DB00203; DB06207; DB09036; DB06290; DB00641; DB12371; DB00877; DB01261; DB06268; DB05482; DB01591; DB09308; DB09099; DB09143; DB00398; DB12713; DB15569; DB12548; DB01323; DB09118; DB00708; DB00359; DB01015; DB01138; DB01268; DB09034; DB09317; DB09318; DB00864; DB00820; DB00675; DB00706; DB06083; DB09071; DB01349; DB08833; DB12887; DB12020; DB05521; DB00976; DB12095; DB00231; DB06287; DB11761; DB00444; DB09299; DB15133; DB00857; DB00342; DB13399; DB13725; DB04905; DB00624; DB13943; DB13944; DB01420; DB13946; DB00759; DB12093; DB14066; DB11712; DB01041; DB00277; DB01154; DB00599; DB04572; DB00906; DB09289; DB08816; DB11470; DB00911; DB01007; DB01409; DB00932; DB06137; DB16732; DB11800; DB06273; DB11635; DB11251; DB08895; DB08811; DB09216; DB01036; DB06212; DB00273; DB01685; DB00539; DB05109; DB00193; DB08911; DB07615; DB00752; DB14962; DB05773; DB00656; DB00755; DB00620; DB00897; DB12245; DB12808; DB09089; DB00347; DB00440; DB06045; DB00197; DB13179; DB11652; DB15328; DB06267; DB08867; DB14989; DB13609; DB15091; DB01586; DB12255; DB11915; DB00580; DB00313; DB15114; DB05294; DB03701; DB04894; DB00862; DB11613; DB08881; DB11581; DB00285; DB00661; DB14895; DB06652; DB09082; DB06684; DB09185; DB00570; DB00541; DB00309; DB11641; DB00361; DB12131; DB08828; DB11094; DB00163; DB11693; DB11739; DB09030; DB00582; DB09068; DB14975; DB12026; DB00682; DB13950; DB01392; DB00549; DB00962; DB15035; DB15688; DB00495; DB00744; DB04832; DB00246; DB00425; DB04828; DB00909; DB01198; DB09225; DB01624; DB15490

O15287; Q6ZQX7-4

EC 1.14.14.-

3D-structure; Direct protein sequencing; Disease variant; Endoplasmic reticulum; Fatty acid metabolism; Heme; Iron; Lipid biosynthesis; Lipid metabolism; Membrane; Metal-binding; Microsome; Monooxygenase; Oxidoreductase; Proteomics identification; Reference proteome; Steroid biosynthesis; Steroid metabolism; Sterol metabolism; Transmembrane; Transmembrane helix; Ubl conjugation

A

52195.6

456

0.11

44.02

8.48

4.36

-10.43