SLC22A3

Homo sapiens (Human)

Solute carrier family 22 member 3; Extraneuronal monoamine transporter; EMTH

Major facilitator (TC 2.A.1) superfamily, Organic cation transporter (TC 2.A.1.19) family

NA

Mediates potential-dependent transport of a variety of organic cations. May play a significant role in the disposition of cationic neurotoxins and neurotransmitters in the brain.

Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:10025409, ECO:0000269|PubMed:10369879, ECO:0000269|PubMed:10571947, ECO:0000269|PubMed:10925378, ECO:0000269|PubMed:21242547}. The disease is caused by variants affecting the gene represented in this entry.

DB00718; DB08838; DB00182; DB00122; DB14006; DB00501; DB00575; DB00363; DB01151; DB00988; DB00783; DB13952; DB13953; DB13954; DB13955; DB13956; DB00983; DB00536; DB05381; DB00458; DB00762; DB00709; DB00448; DB08882; DB01042; DB01577; DB00331; DB08893; DB00184; DB00368; DB00526; DB00925; DB00413; DB00457; DB01035; DB00396; DB00938; DB00391; DB13943; DB13944; DB08837; DB08841; DB00541

P00519

NA

3D-structure; Cell membrane; Glycoprotein; Ion transport; Membrane; Mitochondrion; Nucleus; Proteomics identification; Reference proteome; Transmembrane; Transmembrane helix; Transport

A

53067.4

478

0.13

38.82

9.07

10.54

-6.33

Pseudo lpxC

Pseudomonas aeruginosa (strain ATCC 15692 / DSM 22644 / CIP 104116 / JCM 14847 / LMG 12228 / 1C / PRS 101 / PAO1)

Pseudo UDP-3-O-acyl-GlcNAc deacetylase; EnvA protein

LpxC family

Carbon-nitrogen hydrolase

Involved in the biosynthesis of lipid A, a phosphorylated glycolipid that anchors the lipopolysaccharide to the outer membrane of the cell.

Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSCJ patients manifest intellectual disability associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism. {ECO:0000269|PubMed:15586325, ECO:0000269|PubMed:16538222, ECO:0000269|PubMed:16541399, ECO:0000269|PubMed:17320160, ECO:0000269|PubMed:17468742, ECO:0000269|PubMed:23356856, ECO:0000269|PubMed:25666439}. The disease is caused by variants affecting the gene represented in this entry.

DB07861

NA

EC 3.5.1.108

3D-structure; Hydrolase; Lipid A biosynthesis; Lipid biosynthesis; Lipid metabolism; Metal-binding; Reference proteome; Zinc

A

33194.2

301

0.08

31.41

5.12

-11.56

-6.48

IL21R

Homo sapiens (Human)

UNQ3121/PRO10273; Novel interleukin receptor; NILR; Interleukin-21 receptor; IL21 receptor; IL-21R; IL-21 receptor; CD360

Type I cytokine receptor family, Type 4 subfamily

Cytokine receptor

This is a receptor for interleukin-21.

Immunodeficiency 56 (IMD56) [MIM:615207]: An autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B-cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens. {ECO:0000269|PubMed:23440042}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Chromosomal aberrations involving IL21R is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;16)(q27;p11), with BCL6.

NA

P29972

NA

3D-structure; Chromosomal rearrangement; Direct protein sequencing; Disease variant; Disulfide bond; Glycoprotein; Membrane; Proteomics identification; Receptor; Reference proteome; Repeat; Signal; Transmembrane; Transmembrane helix

A,C,B

48376.5

446

0.1

43.94

8.24

3.56

-6.91

PDE9A

Homo sapiens (Human)

High affinity cGMPspecific 3',5'cyclic phosphodiesterase 9A; High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A

Cyclic nucleotide phosphodiesterase family, PDE9 subfamily

Phosphoric diester hydrolase

Highly specific: compared to other members of the cyclic nucleotide phosphodiesterase family, has the highest affinity and selectivity for cGMP. Specifically regulates natriuretic-peptide-dependent cGMP signaling in heart, acting as a regulator of cardiac hypertrophy in myocytes and muscle. Does not regulate nitric oxide-dependent cGMP in heart. Additional experiments are required to confirm whether its ability to hydrolyze natriuretic-peptide-dependent cGMP is specific to heart or is a general feature of the protein. In brain, involved in cognitive function, such as learning and long-term memory. Specifically hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes.

Macular degeneration, age-related, 7 (ARMD7) [MIM:610149]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269|PubMed:17053108, ECO:0000269|PubMed:17053109}. Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142]: A cerebrovascular disease characterized by non-hypertensive arteriopathy of cerebral small vessels with subcortical infarcts, alopecia, and spondylosis. Small cerebral arteries show arteriosclerotic changes, fibrous intimal proliferation, and hyaline degeneration with splitting of the intima and/or the internal elastic membrane. Neurologic features include progressive dementia, gait disturbances, extrapyramidal and pyramidal signs, and demyelination of the cerebral white matter with sparing of U fibers. {ECO:0000269|PubMed:19387015}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779]: A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke. {ECO:0000269|PubMed:26063658}. The disease is caused by variants affecting the gene represented in this entry.

DB07954; DB00201; DB03597; DB09283

O95817; P49759; Q49AN0; Q9H8Y8; P60410; Q9BYR5; Q9BYQ4; Q14657; Q8NAJ2; P25791; Q9BRA0; Q7Z3S9; O76083-2; Q96FC7-2; P49888; Q13049; Q9BRU9; Q9Y260; O95817; Q16543; P49759-3; Q49AN0; A8MQ03; Q15051-2; Q63ZY3; O76011; Q07627; Q8IUG1; P60409; P60410; P60411; P59991; P60328; P26371; Q14657; Q16649; O76083-2; Q96FC7; Q99633; O00560; P49888; Q13049; O15205; P61964; O76083-2; Q13049

EC 3.1.4.35

3D-structure; Alternative splicing; Cell membrane; Cell projection; cGMP; Cytoplasm; Endoplasmic reticulum; Golgi apparatus; Hydrolase; Magnesium; Membrane; Metal-binding; Phosphoprotein; Proteomics identification; Reference proteome; Zinc

A

38689.4

328

0.11

53.51

5.14

-16.23

-6.74

CACNA1I

Homo sapiens (Human)

Voltage-gated calcium channel subunit alpha Cav3.3; Voltage-dependent T-type calcium channel subunit alpha-1I; KIAA1120; Ca(v)3.3

Calcium channel alpha-1 subunit (TC 1.A.1.11) family, CACNA1I subfamily

Voltage-gated ion channel

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (By similarity).

Neurodevelopmental disorder with speech impairment and with or without seizures (NEDSIS) [MIM:620114]: An autosomal dominant disorder with variable manifestations. Severely affected individuals have profound global developmental delay, hypotonia, delayed or absent walking, absent speech, feeding difficulties, cortical visual impairment, and onset of hyperexcitability and seizures in the first months or years of life. Some patients manifest a milder phenotype characterized by mild to moderate cognitive impairment and mild speech delay, usually without seizures. {ECO:0000269|PubMed:33704440}. The disease is caused by variants affecting the gene represented in this entry.

DB01118; DB00381; DB09231; DB13746; DB11148; DB11093; DB11348; DB14481; DB09061; DB00568; DB09235; DB00228; DB00153; DB04841; DB09238; DB14009; DB01388; DB14011; DB00622; DB01115; DB06712; DB06152; DB00617; DB09498; DB09089; DB00661; DB00909

Q8NEC5; Q96P56

NA

3D-structure; Alternative splicing; Calcium; Calcium channel; Calcium transport; Disease variant; Glycoprotein; Intellectual disability; Ion channel; Ion transport; Membrane; Phosphoprotein; Proteomics identification; Reference proteome; Repeat; Transmembrane; Transmembrane helix; Transport; Voltage-gated channel

A

130104

1135

0.12

41.15

8.25

8.02

-6.59

CYP2C19

Homo sapiens (Human)

NA

NA

Cytochrome P450 family

Oxidoreductase

(R)-limonene 6-monooxygenase activity.(S)-limonene 6-monooxygenase activity.(S)-limonene 7-monooxygenase activity.Arachidonic acid epoxygenase activity.Enzyme binding.Heme binding.Iron ion binding.Monooxygenase activity.Oxidoreductase activity.Oxygen binding.Steroid hydroxylase activity.

Cystathioninuria (CSTNU) [MIM:219500]: Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion. {ECO:0000269|PubMed:12574942, ECO:0000269|PubMed:18476726}. The disease is caused by variants affecting the gene represented in this entry.

DB08496; DB14055; DB05812; DB14973; DB01418; DB00945; DB00546; DB00518; DB00918; DB12015; DB06403; DB00357; DB01424; DB01118; DB00321; DB00381; DB00701; DB01435; DB11901; DB06605; DB00673; DB01274; DB06413; DB06697; DB11638; DB12597; DB11586; DB00289; DB01076; DB06442; DB06626; DB00972; DB01483; DB16703; DB15463; DB12319; DB01086; DB00443; DB01128; DB11967; DB13746; DB00188; DB12151; DB05541; DB01558; DB01222; DB00297; DB00921; DB09061; DB14737; DB08502; DB00564; DB06016; DB00395; DB14984; DB06119; DB00446; DB00672; DB01166; DB00501; DB00604; DB00215; DB12499; DB04920; DB14025; DB00349; DB06470; DB01242; DB00758; DB01559; DB00363; DB14635; DB00531; DB00091; DB08912; DB00250; DB00705; DB06700; DB01234; DB14649; DB09213; DB05351; DB13762; DB00514; DB00829; DB00586; DB00343; DB01093; DB01075; DB09167; DB05928; DB00590; DB01142; DB00470; DB00476; DB00625; DB00216; DB15444; DB13874; DB11718; DB00109; DB08899; DB01175; DB11823; DB14575; DB09119; DB00736; DB00783; DB13952; DB13953; DB13954; DB13955; DB13956; DB00330; DB00898; DB00977; DB09166; DB01628; DB14766; DB06414; DB12500; DB00949; DB00574; DB01039; DB12265; DB15669; DB00196; DB01544; DB00472; DB01095; DB00176; DB00983; DB01320; DB11679; DB05087; DB00317; DB01241; DB06730; DB01120; DB01016; DB00986; DB01018; DB00502; DB01355; DB00956; DB00741; DB06789; DB01050; DB09054; DB01181; DB00619; DB00458; DB00328; DB11633; DB06636; DB00951; DB09570; DB06738; DB01026; DB00598; DB06218; DB00448; DB01259; DB09078; DB12070; DB01006; DB08918; DB09198; DB04948; DB06448; DB16220; DB01601; DB00455; DB04871; DB12130; DB00678; DB00227; DB08933; DB09280; DB01283; DB12474; DB08932; DB09238; DB14921; DB14009; DB01065; DB01043; DB00170; DB00454; DB00532; DB00333; DB00763; DB05246; DB09241; DB00849; DB00959; DB01110; DB06595; DB16236; DB01171; DB00745; DB11763; DB14011; DB09049; DB01183; DB04861; DB00220; DB00622; DB00184; DB00665; DB06712; DB12005; DB00717; DB00540; DB00334; DB14881; DB16267; DB00338; DB11632; DB04911; DB11837; DB04938; DB00776; DB00239; DB00935; DB11697; DB05467; DB00213; DB00715; DB00738; DB00312; DB00850; DB03783; DB00780; DB01174; DB00252; DB13941; DB01621; DB04951; DB17472; DB06209; DB01058; DB14631; DB00635; DB00794; DB00396; DB01131; DB00420; DB00818; DB00571; DB01589; DB04216; DB01224; DB00468; DB01129; DB00980; DB08896; DB16826; DB02709; DB00615; DB01045; DB11753; DB01201; DB01220; DB08864; DB00503; DB06176; DB05271; DB12332; DB11614; DB06654; DB12543; DB12834; DB00418; DB01037; DB11689; DB06731; DB06739; DB01104; DB00203; DB00641; DB06268; DB15093; DB00052; DB00398; DB12548; DB01323; DB09118; DB00675; DB06204; DB06083; DB12020; DB00966; DB12095; DB00444; DB00857; DB00624; DB13943; DB13944; DB13946; DB11712; DB01041; DB00599; DB00679; DB00208; DB00373; DB01007; DB00932; DB06137; DB08895; DB01124; DB01036; DB00273; DB01685; DB05109; DB00752; DB12245; DB00347; DB00726; DB00197; DB15328; DB00313; DB00862; DB00285; DB00661; DB16349; DB06684; DB08828; DB11739; DB00582; DB09068; DB14975; DB00682; DB00549; DB00425; DB00909; DB09120

NA

1.14.14.1; 1.14.14.51; 1.14.14.52; 1.14.14.53; 1.14.14.75

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

A,B,C,D

51680.3

452

0.1

39.98

6.12

-4.4

-6.1

FES

Homo sapiens (Human)

p93c-fes; Tyrosine-protein kinase Fes/Fps; Proto-oncogene c-Fps; Feline sarcoma/Fujinami avian sarcoma oncogene homolog; FPS

Protein kinase superfamily, Tyr protein kinase family, Fes/fps subfamily

Kinase

Plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Acts down-stream of the activated FCER1 receptor and the mast/stem cell growth factor receptor KIT. Plays a role in the regulation of mast cell degranulation. Plays a role in the regulation of cell differentiation and promotes neurite outgrowth in response to NGF signaling. Plays a role in cell scattering and cell migration in response to HGF-induced activation of EZR. Phosphorylates BCR and down-regulates BCR kinase activity. Phosphorylates HCLS1/HS1, PECAM1, STAT3 and TRIM28. Tyrosine-protein kinase that acts downstream of cell surface receptors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, cell attachment and cell spreading.

Has been shown to act as proto-oncogene in some types of cancer, possibly due to abnormal activation of the kinase. Has been shown to act as tumor suppressor in other types of cancer. Expressed and present as activated kinase in a subset of acute myeloid leukemia patients; promotes survival of leukemia cells (PubMed:20111072). Expression is absent in K562 leukemia cells; ectopic expression of FSP/FES restores myeloid differentiation (PubMed:2656706). May function as tumor suppressor in colorectal cancer; expression is reduced or absent in samples from some colon cancer patients (PubMed:16455651). May function as tumor suppressor in melanoma by preventing melanoma cell proliferation; expression is reduced or absent in samples from some melanoma patients (PubMed:28463229). Ectopic expression of FSP/FES suppresses anchorage-independent growth in colon cancer cell lines (PubMed:16455651). Up-regulated in prostate cancer, and might be a predictor of recurrence after radical surgery (PubMed:16455651). May promote growth of renal carcinoma cells (PubMed:19082481). {ECO:0000269|PubMed:16455651, ECO:0000269|PubMed:19082481, ECO:0000269|PubMed:20111072, ECO:0000269|PubMed:2656706, ECO:0000269|PubMed:28463229}.

DB12010

P10275; P15924; P15311; Q13480; P10721; P54274

EC 2.7.10.2

3D-structure; Alternative splicing; ATP-binding; Cell junction; Cell membrane; Coiled coil; Cytoplasm; Cytoplasmic vesicle; Cytoskeleton; Golgi apparatus; Kinase; Lipid-binding; Membrane; Nucleotide-binding; Phosphoprotein; Proteomics identification; Proto-oncogene; Reference proteome; SH2 domain; Transferase; Tumor suppressor; Tyrosine-protein kinase

A

40460.2

356

0.09

42.56

7.12

0.32

-6.48

GART

Homo sapiens (Human)

Trifunctional purine biosynthetic protein adenosine-3; PRGS; PGFT

GARS family; AIR synthase family; GART family

Carbon-nitrogen ligase

A trifunctional polypeptide. Has Phosphoribosylamineglycine ligase, Phosphoribosylglycinamide formyltransferase, AIR synthetase (FGAM cyclase) activity which is required for de novo purine biosynthesis.

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:15645182}. Disease susceptibility may be associated with variants affecting the gene represented in this entry.

DB02236; DB03546; DB00642

NA

NA

3D-structure; Acetylation; Alternative splicing; ATP-binding; Ligase; Magnesium; Manganese; Metal-binding; Multifunctional enzyme; Nucleotide-binding; Phosphoprotein; Proteomics identification; Purine biosynthesis; Reference proteome; Transferase

A

44822.3

420

0.06

33.96

6.04

-4.79

-6.26

PRSS1

Homo sapiens (Human)

Trypsin-1; Trypsin I; TRYP1; TRY1; TRP1; Serine protease 1; Beta-trypsin

Peptidase S1 family

Peptidase

Has activity against the synthetic substrates Boc-Phe-Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg-Mec. The single-chain form is more active than the two-chain form against all of these substrates.

Pancreatitis, hereditary (PCTT) [MIM:167800]: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks. {ECO:0000269|PubMed:10204851, ECO:0000269|PubMed:10381903, ECO:0000269|PubMed:10930381, ECO:0000269|PubMed:11073545, ECO:0000269|PubMed:11788572, ECO:0000269|PubMed:11866271, ECO:0000269|PubMed:14695529, ECO:0000269|PubMed:15776435, ECO:0000269|PubMed:8841182, ECO:0000269|PubMed:9322498, ECO:0000269|PubMed:9633818}. Disease susceptibility is associated with variants affecting the gene represented in this entry.

DB02665; DB03417; DB06850; DB07091; DB06845; DB07088; DB07131; DB07095; DB04793; DB03337; DB04336; DB08420; DB04790; DB04792; DB01905; DB02463; DB02287; DB08184; DB06918; DB06923; DB08254; DB04791; DB01725; DB01665; DB03374; DB04410; DB07229; DB07368; DB03243; DB03136; DB04311; DB04654; DB02354; DB01939; DB07491; DB03865; DB06855; DB04107; DB01836; DB02269; DB08763; DB03081; DB04391; DB02435; DB02045; DB06692; DB03127; DB04446; DB02464; DB03213; DB04301; DB01876; DB01705; DB03443; DB02081; DB13729; DB02288; DB03173; DB02526; DB04470; DB02366; DB02989; DB01771; DB03555; DB03643; DB02063; DB02084; DB01741; DB03016; DB02875; DB04246; DB03159; DB04215; DB04563; DB03595; DB04269; DB06840; DB03608; DB12831; DB01767; DB04442; DB07985; DB01805; DB04125; DB01745; DB04238; DB06853; DB06858; DB12598; DB01737; DB04325; DB03976; DB04424; DB02744; DB03251; DB02812; DB03876; DB04008; DB04432; DB02112; DB03373

NA

EC 3.4.21.4

3D-structure; Calcium; Digestion; Direct protein sequencing; Disease variant; Disulfide bond; Hydrolase; Metal-binding; Protease; Proteomics identification; Reference proteome; Secreted; Serine protease; Signal; Sulfation; Zymogen

A

23950.8

224

0.08

28.99

7.64

1.02

-6.58

GPX8

Homo sapiens (Human)

NA

UNQ847/PRO1785

Glutathione peroxidase family

Oxidoreductase

Glutathione peroxidase activity.Peroxidase activity.

Neurodevelopmental disorder with spastic paraplegia and microcephaly (NEDSPM) [MIM:616281]: An autosomal recessive syndrome characterized by severe psychomotor developmental delay, dysarthria, walking difficulties, moderately to severely impaired intellectual development, poor or absent speech, and progressive microcephaly. {ECO:0000269|PubMed:25758935}. The disease is caused by variants affecting the gene represented in this entry.

DB09096; DB00143; DB03310

Q6RW13-2; Q9NVV5-2; Q9BVK2; P02656; P05090; P29972; P41181; Q92482; P07306; Q12797-6; Q92843; O15155; Q13323; O95393; Q12982; Q8WVV5; Q06432; Q8IX05; P19397; P60033; O14735; O95674; Q9BXR6; O43916; Q8N6F1-2; Q8NC01; Q6UVW9; Q96DZ9-2; O95406; Q8TBE1; P29400-2; Q4VAQ0; Q9Y5Q5; P49447; Q8NBI2; O14569; Q96LL9; Q9UPQ8; P56851; Q9UKR5; Q7L5A8; Q92520; Q96IV6; O14556; O43681; O14653; Q8TDV0; O60883; Q7Z429; P02724; Q9HCP6; P30519; P24593; Q9Y5U4; P43628; Q96E93; Q86VI4; O95214; Q8TAF8; Q9UIQ6-2; Q9UBY5; Q9Y2E5; Q9P0N8; Q9NX47; Q6N075; Q6ZSS7; Q99735; O14880; P30301; Q15546; A6NDP7; Q99519; Q92982; Q6P499; Q16617; Q8N912; Q8IXM6; Q16625; P09466; Q9NXK6; Q6TCH4; Q9UHJ9-5; Q9Y342; P26678; Q04941; Q5VZY2; Q8IY26; P54315; A5D903; Q8N0V3; Q92730; Q5QGT7; Q14108; Q14162; O00767; O75396; Q9Y6D0; Q9NRX5; Q9Y6X1; A2A2V5; P11686; Q8NHU3; Q8WWT9; Q99726; Q8N130; P78382; Q969S0; Q96JW4; Q0VAQ4; Q6UX34; Q96JF0-2; Q13277; Q9UNK0; Q9BQS2-2; P02787; P07204; Q9NPL8; P48230; P55061; Q6UX40; Q9BVC6; A0PK00; Q5BJH2-2; Q9NUH8; Q96HH6; A2RU14; Q8NBD8; Q9BU79; Q8TBM7; Q69YG0; P56557; Q9H2L4; Q8N661; Q5BJF2; Q9NRS4; Q71RG4; Q8N609; Q86UF1; Q53HI1; O75841; Q15836; O75379; O95183; Q8N0U8; Q6UX27-3; Q9UEU0; O95070; Q96EC8; Q8N966

1.11.1.9

3D-structure; Acetylation; Membrane; Oxidoreductase; Peroxidase; Proteomics identification; Reference proteome; Transmembrane; Transmembrane helix

A,B,C

18580.2

161

0.13

38.6

9.39

6.73

-6.42

SMARCA4

Homo sapiens (Human)

Transcription activator BRG1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4; SNF2L4; SNF2B; SNF2-beta; Protein brahma homolog 1; Protein BRG-1; BRG1-ass

SNF2/RAD54 helicase family

Acid anhydride hydrolase

Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating the calcium-dependent release of a repressor complex and the recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by SMARCA4-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves the release of HDAC1 and recruitment of CREBBP. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development, a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. SMARCA4/BAF190A may promote neural stem cell self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural stem cell insensitive to SHH-dependent differentiating cues. Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1. Binds via DLX1 to enhancers located in the intergenic region between DLX5 and DLX6 and this binding is stabilized by the long non-coding RNA (lncRNA) Evf2. Binds to RNA in a promiscuous manner. Binding to RNAs including lncRNA Evf2 leads to inhibition of SMARCA4 ATPase and chromatin remodeling activities. Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).

Rhabdoid tumor predisposition syndrome 2 (RTPS2) [MIM:613325]: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. {ECO:0000269|PubMed:20137775}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Coffin-Siris syndrome 4 (CSS4) [MIM:614609]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. {ECO:0000269|PubMed:22426308}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Otosclerosis 12 (OTSC12) [MIM:620792]: A form of otosclerosis, a pathological condition of the ear characterized by formation of spongy bone in the labyrinth capsule, especially in front of and posterior to the footplate of the stapes, resulting in conductive hearing impairment. Cochlear otosclerosis may also develop, resulting in sensorineural hearing loss. OTSC12 is an autosomal dominant form with incomplete penetrance. {ECO:0000269|PubMed:37399313}. The disease is caused by variants affecting the gene represented in this entry.

NA

O14497; Q8NFD5; Q68CP9; P16104; Q86U86; Q06330; Q13127; Q12824; Q92922; Q96GM5; Q969G3-2; A4PIV7; O14746; P06536

EC 3.6.4.-

3D-structure; Acetylation; Activator; Alternative splicing; ATP-binding; Bromodomain; Chromatin regulator; Deafness; Disease variant; Helicase; Hydrolase; Intellectual disability; Isopeptide bond; Neurogenesis; Nucleotide-binding; Nucleus; Phosphoprotein; Proteomics identification; Reference proteome; Repressor; RNA-binding; Transcription; Transcription regulation; Ubl conjugation

A

71880.3

617

0.09

45.92

8.77

8.46

-6.89

GRIK2

Homo sapiens (Human)

Glutamate receptor ionotropic, kainate 2; Glutamate receptor 6; GluR6; GluR-6; GluK2; Excitatory amino acid receptor 4; EAA4

Glutamate-gated ion channel (TC 1.A.10.1) family, GRIK2 subfamily

Glutamate-gated ion channel

L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2. Ionotropic glutamate receptor.

Intellectual developmental disorder, autosomal recessive 6 (MRT6) [MIM:611092]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT6 patients display mild to severe intellectual disability and psychomotor development delay in early childhood. Patients do not have neurologic problems, congenital malformations, or facial dysmorphism. Body height, weight, and head circumference are normal. {ECO:0000269|PubMed:17847003}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) [MIM:619580]: An autosomal dominant disorder characterized by axial hypotonia and global developmental delay. Affected individuals show impaired intellectual development, delayed walking, poor speech, and behavioral abnormalities. Some patients have a more severe phenotype with early-onset seizures resembling epileptic encephalopathy, inability to walk or speak, and hypomyelination on brain imaging. {ECO:0000269|PubMed:28180184, ECO:0000269|PubMed:34375587}. The disease is caused by variants affecting the gene represented in this entry.

DB03425; DB01351; DB01352; DB01483; DB00237; DB00241; DB01353; DB01496; DB02852; DB00142; DB01354; DB01355; DB00463; DB00849; DB00312; DB01174; DB00794; DB02999; DB00418; DB00306; DB00599; DB00273

NA

NA

3D-structure; Alternative splicing; Cell membrane; Disease variant; Disulfide bond; Epilepsy; Glycoprotein; Intellectual disability; Ion channel; Ion transport; Isopeptide bond; Ligand-gated ion channel; Membrane; Phosphoprotein; Postsynaptic cell membrane; Proteomics identification; Receptor; Reference proteome; RNA editing; Signal; Synapse; Transmembrane; Transmembrane helix; Transport; Ubl conjugation

A

29150.1

257

0.1

35.11

5.89

-2.05

-7.04

APEX1

Homo sapiens (Human)

NA

APE;APX;APE1;APEX;HAP1;REF1

DNA repair enzymes AP/ExoA family

Lyase

3'-5' exonuclease activity.Chromatin DNA binding.Class I DNA-(apurinic or apyrimidinic site) lyase activity.Class III/IV DNA-(apurinic or apyrimidinic site) lyase activity.Damaged DNA binding.DNA-(apurinic or apyrimidinic site) lyase activity.DNA binding.Double-stranded DNA 3'-5' exodeoxyribonuclease activity.Double-stranded DNA exodeoxyribonuclease activity.Double-stranded telomeric DNA binding.Endodeoxyribonuclease activity.Endonuclease activity.Metal ion binding.NF-kappaB binding.Oxidoreductase activity.Phosphodiesterase I activity.Phosphoric diester hydrolase activity.Protein complex binding.RNA binding.RNA-DNA hybrid ribonuclease activity.Site-specific endodeoxyribonuclease activity, specific for altered base.Transcription coactivator activity.Transcription corepressor activity.Uracil DNA N-glycosylase activity.

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.

DB04967

Q09472; Q8N4N3; Q16236; Q96EB6; O88846

3.1.11.2; 3.1.21.-

3D-structure; Acetylation; Activator; Cleavage on pair of basic residues; Cytoplasm; Direct protein sequencing; Disulfide bond; DNA damage; DNA recombination; DNA repair; DNA-binding; Endonuclease; Endoplasmic reticulum; Exonuclease; Hydrolase; Magnesium; Metal-binding; Mitochondrion; Nuclease; Nucleus; Phosphoprotein; Proteomics identification; Reference proteome; Repressor; RNA-binding; S-nitrosylation; Transcription; Transcription regulation; Ubl conjugation

A

31556.6

281

0.1

44.46

7.17

0.3

-6.89

TMPRSS15

Homo sapiens (Human)

Transmembrane protease serine 15; TMPRSS15; Serine protease 7; Enterokinase

Peptidase S1 family

Peptidase

Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other proenzymes including chymotrypsinogen, procarboxypeptidases, and proelastases.

Enterokinase deficiency (ENTKD) [MIM:226200]: Life-threatening intestinal malabsorption disorder characterized by diarrhea and failure to thrive. {ECO:0000269|PubMed:11719902}. The disease is caused by variants affecting the gene represented in this entry.

NA

NA

EC 3.4.21.9

3D-structure; Disulfide bond; Glycoprotein; Hydrolase; Lipoprotein; Membrane; Myristate; Protease; Proteomics identification; Reference proteome; Repeat; Serine protease; Signal-anchor; Transmembrane; Transmembrane helix; Zymogen

A

26220.3

234

0.1

50.13

4.82

-9.93

-6.96

DNMT1

Homo sapiens (Human)

MCMT; M.HsaI; Dnmt1; DNMT; DNA methyltransferase HsaI; DNA MTase HsaI; DNA (cytosine5)methyltransferase 1; DNA (cytosine-5)-methyltransferase 1; CXXCtype zinc finger protein 9; CXXC9; CXXC-type zinc f

Class I-like SAM-binding methyltransferase superfamily, C5-methyltransferase family

Methyltransferase

Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication. It is responsible for maintaining methylation patterns established in development. DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct binding to HDAC2. In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells. Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing. Promotes tumor growth. Methylates CpG residues.

Neuropathy, hereditary sensory, 1E (HSN1E) [MIM:614116]: A neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia. {ECO:0000269|PubMed:21532572}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121]: An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression. {ECO:0000269|PubMed:22328086}. The disease is caused by variants affecting the gene represented in this entry.

DB00928; DB01262; DB12116; DB01099; DB05668; DB01035; DB00721

P31749; P35222; Q96JK2; O75530; Q15910; Q96JM7; P48552; P09874; Q9NRD5; Q8WTS6; Q96EB6; Q96T88; P63104; Q77UV9; Q9QR71

EC 2.1.1.37

3D-structure; Acetylation; Activator; Alternative splicing; Chromatin regulator; Deafness; Disease variant; DNA-binding; Isopeptide bond; Metal-binding; Methylation; Methyltransferase; Neuropathy; Nucleus; Phosphoprotein; Proteomics identification; Reference proteome; Repeat; Repressor; S-adenosyl-L-methionine; Transcription; Transcription regulation; Transferase; Ubl conjugation; Zinc; Zinc-finger

A,B

23471.3

215

0.09

42.93

4.83

-10.83

-6.61

POLB

Homo sapiens (Human)

NA

DNA polymerase type-X family

NA

Repair polymerase that plays a key role in base-excision repair. Has 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity that removes the 5' sugar phosphate and also acts as a DNA polymerase that adds one nucleotide to the 3' end of the arising single-nucleotide gap. Conducts 'gap-filling' DNA synthesis in a stepwise distributive fashion rather than in a processive fashion as for other DNA polymerases.

Glycogen storage disease 6 (GSD6) [MIM:232700]: A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. {ECO:0000269|PubMed:9529348}. The disease is caused by variants affecting the gene represented in this entry.

DB07479; DB00987; DB03222; DB14490; DB14491; DB14488; DB14501; DB14489; DB01592

Q9H5J8; P29144; O76024; P18887

EC 2.7.7.7

3D-structure; Acetylation; Cytoplasm; DNA damage; DNA repair; DNA replication; DNA synthesis; DNA-binding; DNA-directed DNA polymerase; Isopeptide bond; Lyase; Magnesium; Metal-binding; Methylation; Nucleotidyltransferase; Nucleus; Proteomics identification; Reference proteome; Sodium; Transferase; Ubl conjugation

A

26304.7

228

0.09

30.19

6.64

-0.97

-6.53

parC

Escherichia coli (strain K12)

NA

b3019;JW2987

Type II topoisomerase GyrA/ParC subunit family, ParC type 1 subfamily

Isomerase

ATP binding.DNA binding.DNA topoisomerase type II (ATP-hydrolyzing) activity.

Pigmentary disorder, reticulate, with systemic manifestations, X-linked (PDR) [MIM:301220]: An X-linked recessive disorder characterized by recurrent infections and sterile inflammation in various organs. Diffuse skin hyperpigmentation with a distinctive reticulate pattern is universally evident by early childhood. This is later followed in many patients by hypohidrosis, corneal inflammation and scarring, enterocolitis that resembles inflammatory bowel disease, and recurrent urethral strictures. Melanin and amyloid deposition is present in the dermis. Affected males also have a characteristic facies with frontally upswept hair and flared eyebrows. Female carriers have only restricted pigmentary changes along Blaschko's lines. {ECO:0000269|PubMed:27019227}. The disease is caused by variants affecting the gene represented in this entry. XLPDR is caused by a recurrent intronic mutation that results in missplicing and reduced POLA1 expression. This leads to a decrease in cytosolic RNA:DNA hybrids and constitutive activation of type I interferon responses, but has no effect on cell replication. {ECO:0000269|PubMed:27019227}.; DISEASE: Van Esch-O'Driscoll syndrome (VEODS) [MIM:301030]: An X-linked recessive syndrome characterized by different degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations. {ECO:0000269|PubMed:31006512}. The disease is caused by variants affecting the gene represented in this entry.

DB11943; DB12924; DB00817

P22523; P0A7K2

5.6.2.2

3D-structure; Cell membrane; Direct protein sequencing; DNA-binding; Isomerase; Membrane; Reference proteome; Topoisomerase

A,B

26490.3

246

0.04

46.03

8.94

2.83

-6.22

GSTP1

Homo sapiens (Human)

GSTP11; GSTP1-1; GST3; GST classpi; GST class-pi; FAEES3

GST superfamily, Pi family

Alkyl aryl transferase

Regulates negatively CDK5 activity via p25/p35 translocation to prevent neurodegeneration. Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.

Orthostatic hypotension 1 (ORTHYP1) [MIM:223360]: A form of orthostatic hypotension due to congenital dopamine beta-hydroxylase deficiency. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia. {ECO:0000269|PubMed:11857564}. The disease is caused by variants affecting the gene represented in this entry.

DB01834; DB03814; DB00316; DB14001; DB00321; DB01008; DB04972; DB00958; DB00291; DB02633; DB00515; DB01242; DB00363; DB11672; DB14635; DB14002; DB03619; DB11831; DB00903; DB00773; DB06246; DB05460; DB00143; DB03310; DB03003; DB13014; DB00526; DB14924; DB08370; DB03686; DB04132; DB01915; DB07849; DB00197; DB00163

Q6UY14-3; Q92624; Q9BWT7; A8MQ03; Q9NRD0; Q5TD97; P49639; Q15323; Q14525; O76011; P78385; Q07627; Q8IUG1; P60409; P60411; Q9BYR8; Q9BYR6; Q3LI66; Q9P2M1; Q5JR59-3; Q7Z3S9; P0DPK4; P22735; Q12933; Q8N720

EC 2.5.1.18

3D-structure; Acetylation; Cytoplasm; Direct protein sequencing; Lipid metabolism; Mitochondrion; Nucleus; Phosphoprotein; Proteomics identification; Reference proteome; Transferase

A,B

46333.6

417

0.1

30.67

5.44

-5.73

-7.21

BMP1

Homo sapiens (Human)

Procollagen C-proteinase; PCP protein; PCOLC; Mammalian tolloid protein; MTld; BMP-1

NA

Peptidase

Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD). Responsible for the proteolytic activation of lysyl oxidase LOX. Cleaves the C-terminal propeptides of procollagen I, II and III.

Osteogenesis imperfecta 13 (OI13) [MIM:614856]: An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, severe bone deformity, and recurrent fractures affecting both upper and lower limbs. {ECO:0000269|PubMed:22052668, ECO:0000269|PubMed:22482805, ECO:0000269|PubMed:25402547}. The disease is caused by variants affecting the gene represented in this entry.

NA

P13497; Q9H2X0; P20908; O14793; Q15113; P07585; P97299

EC 3.4.24.19

3D-structure; Alternative splicing; Calcium; Chondrogenesis; Cleavage on pair of basic residues; Cytokine; Developmental protein; Differentiation; Disease variant; Disulfide bond; EGF-like domain; Extracellular matrix; Glycoprotein; Golgi apparatus; Growth factor; Hydrolase; Metal-binding; Metalloprotease; Methylation; Osteogenesis; Osteogenesis imperfecta; Protease; Proteomics identification; Reference proteome; Repeat; Secreted; Signal; Zinc; Zymogen

A

22934.8

202

0.11

36.61

8.75

4.46

-6.44

DBH

Homo sapiens (Human)

NA

NA

Copper type II ascorbate-dependent monooxygenase family

Oxidoreductase

Catalytic activity.Copper ion binding.Dopamine beta-monooxygenase activity.L-ascorbic acid binding.

Orthostatic hypotension 1 (ORTHYP1) [MIM:223360]: A form of orthostatic hypotension due to congenital dopamine beta-hydroxylase deficiency. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia. {ECO:0000269|PubMed:11857564}. The disease is caused by variants affecting the gene represented in this entry.

DB00126; DB06774; DB09130; DB05394; DB00822; DB00988; DB00968; DB00550

P00352; P63010-2; Q04656; Q8WUW1; Q9UNS2; Q71DI3; P61978; Q9Y2M5; Q92876; P08727; Q14693; P0DPK4; Q6GQQ9-2; P27986-2; Q9ULX5; Q96D59; Q8N6K7-2; Q9GZS3; Q8IUW3; Q86WT6-2

1.14.17.1

3D-structure; Catecholamine biosynthesis; Copper; Cytoplasmic vesicle; Direct protein sequencing; Disease variant; Disulfide bond; Glycoprotein; Membrane; Metal-binding; Monooxygenase; Oxidoreductase; Proteomics identification; Reference proteome; Secreted; Signal-anchor; Transmembrane; Transmembrane helix; Vitamin C

A,B

123694

1094

0.1

51.85

5.84

-24.5

-7.11