ctaD

Cereibacter sphaeroides (Rhodobacter sphaeroides)

NA

NA

Heme-copper respiratory oxidase family

Oxidoreductase

Copper ion binding.Cytochrome-c oxidase activity.Heme binding.Iron ion binding.

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.

DB03619

Q03736

7.1.1.9

3D-structure; Cell membrane; Copper; Electron transport; Heme; Hydrogen ion transport; Ion transport; Iron; Membrane; Metal-binding; Respiratory chain; Translocase; Transmembrane; Transmembrane helix; Transport

A,C

88419.8

794

0.15

40.59

6.09

-10.78

-9.43

CYCS

Homo sapiens (Human)

NA

CYC

Cytochrome c family

Oxidoreductase

Electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity.Heme binding.Metal ion binding.

Thrombocytopenia 4 (THC4) [MIM:612004]: A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. {ECO:0000269|PubMed:18345000}. The disease is caused by variants affecting the gene represented in this entry.

DB11638; DB03317; DB03366; DB01017; DB02110; DB03977; DB03934; DB04249

O14727; P05067; Q6XD76; Q9NSI6-4; Q3SXR2; Q96BR5; Q9UKG9-2; O00303; Q8IZU1; Q3SYB3; P06241; Q8N5Z5; Q6A162; Q1L5Z9; P02750; Q8IYG6; Q6FHY5; A0A0A0MR05; Q9BUL5; Q6ZMI0-5; Q66K80; Q9NTN9-3; P37840; Q13573; Q92797-2; O43829; Q9FKS5

NA

3D-structure; Acetylation; Apoptosis; Direct protein sequencing; Disease variant; Electron transport; Heme; Iron; Metal-binding; Mitochondrion; Phosphoprotein; Proteomics identification; Reference proteome; Respiratory chain; Transport

A,B,C,D

11601.4

104

0.09

12.21

9.61

9.01

-9.42

AKR1C1

Homo sapiens (Human)

NA

DDH1;DDH

Aldo/keto reductase family

Oxidoreductase

17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity.Alditol:NADP+ 1-oxidoreductase activity.Aldo-keto reductase (NADP) activity.Androsterone dehydrogenase (B-specific) activity.Bile acid binding.Carboxylic acid binding.Indanol dehydrogenase activity.Ketosteroid monooxygenase activity.Oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor.Phenanthrene 9,10-monooxygenase activity.Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity.

Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]: A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible. {ECO:0000269|PubMed:16642017, ECO:0000269|PubMed:19085907, ECO:0000269|PubMed:19330033}. The disease is caused by variants affecting the gene represented in this entry.

DB04674; DB00945; DB07768; DB01039; DB07931; DB06077; DB00959; DB00461; DB00157; DB03467; DB03461; DB00776; DB12612; DB00936

P51857; P26045; Q7Z699

1.1.1.-; 1.1.1.112; 1.1.1.149; 1.1.1.209; 1.1.1.210; 1.1.1.357; 1.1.1.51; 1.1.1.53; 1.1.1.62; 1.3.1.20

3D-structure; Cytoplasm; Direct protein sequencing; Lipid metabolism; NADP; Oxidoreductase; Proteomics identification; Reference proteome

A

36784.9

323

0.09

42.07

8.06

2.42

-9.42

SLC5A2

Homo sapiens (Human)

Solute carrier family 5 member 2; Na(+)/glucose cotransporter 2; Low affinity sodium-glucose cotransporter

Sodium:solute symporter (SSF) (TC 2.A.21) family

Solute:sodium symporter

Has a Na(+) to glucose coupling ratio of 1:1. Sodium-dependent glucose transporter.

Renal glucosuria (GLYS) [MIM:233100]: A disorder characterized by persistent isolated glucosuria, normal fasting serum glucose concentration, decreased renal tubular resorption of glucose from the urine, and absence of any other signs of tubular dysfunction. {ECO:0000269|PubMed:14614622}. The disease is caused by variants affecting the gene represented in this entry.

DB12236; DB08907; DB01914; DB06292; DB09038; DB11827; DB12713

O14556; Q13113

NA

3D-structure; Alternative splicing; Cell membrane; Disease variant; Disulfide bond; Glycoprotein; Ion transport; Membrane; Metal-binding; Proteomics identification; Reference proteome; Sodium; Sodium transport; Sugar transport; Symport; Transmembrane; Transmembrane helix; Transport

A

63858.9

586

0.12

39.46

8.62

7.41

-9.43

SLC5A1

Homo sapiens (Human)

Solute carrier family 5 member 1; Na(+)/glucose cotransporter 1; NAGT; High affinity sodium-glucose cotransporter

Sodium:solute symporter (SSF) (TC 2.A.21) family

Solute:sodium symporter

Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules. Actively transports glucose into cells by Na(+) cotransport with a Na(+) to glucose coupling ratio of 2:1.

Congenital glucose/galactose malabsorption (GGM) [MIM:606824]: Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet. {ECO:0000269|PubMed:10036327, ECO:0000269|PubMed:11406349, ECO:0000269|PubMed:2008213, ECO:0000269|PubMed:8195156, ECO:0000269|PubMed:8563765}. The disease is caused by variants affecting the gene represented in this entry.

DB00766; DB01914; DB09341; DB05018; DB12713

P00533

NA

3D-structure; Alternative splicing; Cell membrane; Disease variant; Disulfide bond; Glycoprotein; Ion transport; Membrane; Phosphoprotein; Proteomics identification; Reference proteome; Sodium; Sodium transport; Sugar transport; Symport; Transmembrane; Transmembrane helix; Transport

A

66451.3

602

0.12

35.84

8.3

4.43

-9.43

TYMP

Homo sapiens (Human)

TdRPase; TYMP; TP; Platelet-derived endothelial cell growth factor; PDECGF; PD-ECGF; Gliostatin

Thymidine/pyrimidine-nucleoside phosphorylase family

Pentosyltransferase

Catalyzes the reversible phosphorolysis of thymidine. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis.

Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]: A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy. {ECO:0000269|PubMed:12177387, ECO:0000269|PubMed:9924029}. The disease is caused by variants affecting the gene represented in this entry.

DB01101; DB00369; DB00322; DB00544; DB06433; DB09343; DB00432

Q14696; Q9H0C1

EC 2.4.2.4

3D-structure; Alternative splicing; Angiogenesis; Chemotaxis; Developmental protein; Differentiation; Direct protein sequencing; Disease variant; Glycosyltransferase; Growth factor; Neuropathy; Phosphoprotein; Primary mitochondrial disease; Progressive external ophthalmoplegia; Proteomics identification; Reference proteome; Repeat; Transferase

A

46508.2

446

0.03

37.49

5.81

-4.7

-9.43

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

-9.42

COMT

Homo sapiens (Human)

S-COMT; MB-COMT; Catechol-O-methyltransferase; COMT

Class I-like SAM-binding methyltransferase superfamily, Cation-dependent O-methyltransferase family

Methyltransferase

Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol.

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.

DB07462; DB02342; DB02105; DB08049; DB00118; DB00714; DB03336; DB00286; DB00255; DB00841; DB00988; DB15488; DB00494; DB00668; DB00783; DB00977; DB01064; DB00968; DB01141; DB03907; DB04820; DB06152; DB11632; DB00252; DB01420; DB00323

Q6P5T0; P30518; Q8NFU1; Q8NHW4; P34972; Q96BA8; P50402; Q5JX71; O14843; O00258; P08034; O75712; Q9NTQ9; O95377; Q8TDT2; Q8N6U8; O15529; P31937; Q9H2F3; O95279; Q5SR56; A6NDP7; Q0D2K0; Q7RTS5; Q9UHJ9-5; Q8IY26; Q9H6H4; Q6NTF9-3; O75783; Q99500; Q9Y6D0; Q3KNW5; O60669; P22732; Q96G79; Q5T1Q4; Q9NY26; Q9NP94; Q6P1K1; P30825; Q9UHI5; B2RUZ4; Q9UPZ6; Q96MV1; Q9NV29; A0PK00; Q9NUH8; Q9P0S9; Q14656; Q6UW68; Q9H0R3; O95807; P34981; Q15645; Q15836; O95183; O76024; P30260; Q9H816; Q92997; P29323-3; P22607; P06396; Q15323; Q6A162; P26371; O15116; P20645; O14744; Q5T160; Q9UJD0; Q2MKA7; Q8N488; O75880; Q14141; Q9UNE7; Q15645; Q9NYH9; Q8NA23-2

EC 2.1.1.6

3D-structure; Alternative initiation; Catecholamine metabolism; Cell membrane; Cytoplasm; Direct protein sequencing; Lipid metabolism; Magnesium; Membrane; Metal-binding; Methyltransferase; Neurotransmitter degradation; Phosphoprotein; Proteomics identification; Reference proteome; S-adenosyl-L-methionine; Schizophrenia; Signal-anchor; Transferase; Transmembrane; Transmembrane helix

A

23851.2

214

0.07

25.99

5.25

-7.75

-9.41

MAP3K8

Homo sapiens (Human)

Tumor progression locus 2; TPL-2; Proto-oncogene c-Cot; Mitogen-activated protein kinase kinase kinase 8; ESTF; Cancer Osaka thyroid oncogene; COT

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

NA

Required for lipopolysaccharide (LPS)-induced, TLR4-mediated activation of the MAPK/ERK pathway in macrophages, thus being critical for production of the proinflammatory cytokine TNF-alpha (TNF) during immune responses. Involved in the regulation of T-helper cell differentiation and IFNG expression in T-cells. Involved in mediating host resistance to bacterial infection through negative regulation of type I interferon (IFN) production. In vitro, activates MAPK/ERK pathway in response to IL1 in an IRAK1-independent manner, leading to up-regulation of IL8 and CCL4. Transduces CD40 and TNFRSF1A signals that activate ERK in B-cells and macrophages, and thus may play a role in the regulation of immunoglobulin production. May also play a role in the transduction of TNF signals that activate JNK and NF-kappa-B in some cell types. In adipocytes, activates MAPK/ERK pathway in an IKBKB-dependent manner in response to IL1B and TNF, but not insulin, leading to induction of lipolysis. Plays a role in the cell cycle. Isoform 1 shows some transforming activity, although it is much weaker than that of the activated oncogenic variant.

Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820]: 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. HHF2 is a common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF2 inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:10204114, ECO:0000269|PubMed:12364426, ECO:0000269|PubMed:15562009, ECO:0000269|PubMed:15579781, ECO:0000269|PubMed:15807877, ECO:0000269|PubMed:15998776, ECO:0000269|PubMed:16332676, ECO:0000269|PubMed:16357843, ECO:0000269|PubMed:18596924, ECO:0000269|PubMed:19357197, ECO:0000269|PubMed:7847376, ECO:0000269|PubMed:8923010}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856]: 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 PNDM2 patients may also have developmental delay, muscle weakness, epilepsy and dysmorphic features. PNDM2 transmission pattern is consistent with autosomal dominant inheritance. {ECO:0000269|PubMed:15115830, ECO:0000269|PubMed:15292329, ECO:0000269|PubMed:15448106, ECO:0000269|PubMed:15448107, ECO:0000269|PubMed:15580558, ECO:0000269|PubMed:15583126, ECO:0000269|PubMed:16609879, ECO:0000269|PubMed:16731833, ECO:0000269|PubMed:17213273, ECO:0000269|PubMed:17652641, ECO:0000269|PubMed:17855752, ECO:0000269|PubMed:20022885, ECO:0000269|PubMed:28842488}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]: Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described. {ECO:0000269|PubMed:15718250, ECO:0000269|PubMed:15784703}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2.; DISEASE: Maturity-onset diabetes of the young 13 (MODY13) [MIM:616329]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269|PubMed:22701567}. The disease is caused by variants affecting the gene represented in this entry.

NA

P08238; P19838; Q00653; Q13526; Q8NFZ5

EC 2.7.11.25

3D-structure; Alternative initiation; ATP-binding; Cell cycle; Cytoplasm; Immunity; Kinase; Magnesium; Metal-binding; Nucleotide-binding; Phosphoprotein; Proteomics identification; Proto-oncogene; Reference proteome; Serine/threonine-protein kinase; Transferase

A

34773.8

307

0.09

39.24

6.68

-1.2

-9.41

ABL1

Homo sapiens (Human)

p150 T315I; T315I Abl; Proto-oncogene tyrosine-protein kinase ABL1 T315I; Proto-oncogene c-Abl T315I; JTK7 T315I; C-ABL T315I; Abl T315I; Abelson tyrosine-protein kinase 1 T315I; Abelson murine leukem

Protein kinase superfamily, Tyr protein kinase family, ABL subfamily

Kinase

Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like WASF3 (involved in branch formation); ANXA1 (involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH (involved in signaling); or MAPT and PXN (microtubule-binding proteins). Phosphorylation of WASF3 is critical for the stimulation of lamellipodia formation and cell migration. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as BCAR1, CRK, CRKL, DOK1, EFS or NEDD9. Phosphorylates multiple receptor tyrosine kinases and more particularly promotes endocytosis of EGFR, facilitates the formation of neuromuscular synapses through MUSK, inhibits PDGFRB-mediated chemotaxis and modulates the endocytosis of activated B-cell receptor complexes. Other substrates which are involved in endocytosis regulation are the caveolin (CAV1) and RIN1. Moreover, ABL1 regulates the CBL family of ubiquitin ligases that drive receptor down-regulation and actin remodeling. Phosphorylation of CBL leads to increased EGFR stability. Involved in late-stage autophagy by regulating positively the trafficking and function of lysosomal components. ABL1 targets to mitochondria in response to oxidative stress and thereby mediates mitochondrial dysfunction and cell death. In response to oxidative stress, phosphorylates serine/threonine kinase PRKD2 at 'Tyr-717'. ABL1 is also translocated in the nucleus where it has DNA-binding activity and is involved in DNA-damage response and apoptosis. Many substrates are known mediators of DNA repair: DDB1, DDB2, ERCC3, ERCC6, RAD9A, RAD51, RAD52 or WRN. Activates the proapoptotic pathway when the DNA damage is too severe to be repaired. Phosphorylates TP73, a primary regulator for this type of damage-induced apoptosis. Phosphorylates the caspase CASP9 on 'Tyr-153' and regulates its processing in the apoptotic response to DNA damage. Phosphorylates PSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocks. ABL1 acts also as a regulator of multiple pathological signaling cascades during infection. Several known tyrosine-phosphorylated microbial proteins have been identified as ABL1 substrates. This is the case of A36R of Vaccinia virus, Tir (translocated intimin receptor) of pathogenic E. coli and possibly Citrobacter, CagA (cytotoxin-associated gene A) of H. pylori, or AnkA (ankyrin repeat-containing protein A) of A. phagocytophilum. Pathogens can highjack ABL1 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. Regulates T-cell differentiation in a TBX21-dependent manner. Phosphorylates TBX21 on tyrosine residues leading to an enhancement of its transcriptional activator activity. Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis.

Leukemia, chronic myeloid (CML) [MIM:608232]: A clonal myeloproliferative disorder of a pluripotent stem cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid, megakaryocytic, B-lymphoid, and sometimes T-lymphoid cells, but not marrow fibroblasts. The gene represented in this entry is involved in disease pathogenesis.; DISEASE: A chromosomal aberration involving ABL1 has been found in patients with chronic myeloid leukemia. Translocation t(9;22)(q34;q11) with BCR. The translocation produces a BCR-ABL found also in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL). {ECO:0000269|PubMed:3021337}.; DISEASE: A chromosomal aberration involving ABL1 is found in a form of acute lymphoblastic leukemia (PubMed:15361874). Translocation t(9;9)(q34;q34) with NUP214 (PubMed:15361874). {ECO:0000269|PubMed:15361874}.; DISEASE: Congenital heart defects and skeletal malformations syndrome (CHDSKM) [MIM:617602]: An autosomal dominant disorder characterized by congenital heart disease with atrial and ventricular septal defects, variable skeletal abnormalities, and failure to thrive. Skeletal defects include pectus excavatum, scoliosis, and finger contractures. Some patient exhibit joint laxity. {ECO:0000269|PubMed:28288113}. The disease is caused by variants affecting the gene represented in this entry.

DB08043; DB08583; DB07831; DB08350; DB12597; DB00171; DB06616; DB12267; DB01254; DB12010; DB00619; DB13749; DB08231; DB03878; DB04868; DB08339; DB08901; DB12323; DB08896; DB14989; DB05184

Q8IZP0; Q9NYB9; O14672; P10275; Q13315; Q4KMG0; P46108; P46109; P35222; P00533; P04626; Q03468; Q14315; P36888; P05107; P10721; Q38SD2; Q92918; Q7Z434; O43196; P15941; P15941-12; P16333; O43900; Q13905; Q86UR5; Q13671; P31947; Q15464; O75751; P37840; Q9BX66; O60504-2; Q07890; P12931; P51692; Q9Y4G6; P11387; P04637; P15498; Q9Y6W5; P62258; P61981; P63104; O35158; P37840; P48165; Q15323; P37840

EC 2.7.10.2

3D-structure; Acetylation; Alternative splicing; Apoptosis; ATP-binding; Autophagy; Cell adhesion; Chromosomal rearrangement; Cytoplasm; Cytoskeleton; Disease variant; DNA damage; DNA repair; DNA-binding; Endocytosis; Kinase; Lipoprotein; Magnesium; Manganese; Membrane; Metal-binding; Mitochondrion; Myristate; Nucleotide-binding; Nucleus; Phosphoprotein; Proteomics identification; Proto-oncogene; Reference proteome; SH2 domain; SH3 domain; Transferase; Tyrosine-protein kinase; Ubl conjugation

A

30776.1

266

0.12

36.47

5.39

-7.71

-9.41

HRV P3C

Human rhinovirus 2 (HRV-2)

Rhinovirus P3C

Picornaviruses polyprotein family

NA

Capsid protein VP1: Forms an icosahedral capsid of pseudo T=3 symmetry with capsid proteins VP2 and VP3. The capsid is 300 Angstroms in diameter, composed of 60 copies of each capsid protein and enclosing the viral positive strand RNA genome. Capsid protein VP1 mainly forms the vertices of the capsid. Capsid protein VP1 interacts with host VLDLR to provide virion attachment to target host cells. This attachment induces virion internalization. Tyrosine kinases are probably involved in the entry process. After binding to its receptor, the capsid undergoes conformational changes. Capsid protein VP1 N-terminus (that contains an amphipathic alpha-helix) and capsid protein VP4 are externalized. Together, they shape a pore in the host membrane through which viral genome is translocated to host cell cytoplasm. After genome has been released, the channel shrinks (By similarity).

Charcot-Marie-Tooth disease, axonal, 2DD (CMT2DD) [MIM:618036]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269|PubMed:29499166}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypomagnesemia, seizures, and impaired intellectual development 2 (HOMGSMR2) [MIM:618314]: An autosomal dominant disease characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant intellectual disability. {ECO:0000269|PubMed:30388404}. The disease is caused by variants affecting the gene represented in this entry.

DB02313; DB03017

NA

EC 3.4.22.28

3D-structure; Activation of host autophagy by virus; ATP-binding; Autocatalytic cleavage; Capsid protein; Covalent protein-RNA linkage; DNA replication; Eukaryotic host gene expression shutoff by virus; Eukaryotic host translation shutoff by virus; Helicase; Host cytoplasm; Host cytoplasmic vesicle; Host gene expression shutoff by virus; Host membrane; Host mRNA suppression by virus; Host nucleus; Host-virus interaction; Hydrolase; Inhibition of host innate immune response by virus; Inhibition of host mRNA nuclear export by virus; Inhibition of host RIG-I by virus; Inhibition of host RLR pathway by virus; Ion channel; Ion transport; Lipoprotein; Magnesium; Membrane; Metal-binding; Myristate; Nucleotide-binding; Nucleotidyltransferase; Phosphoprotein; Pore-mediated penetration of viral genome into host cell; Protease; Repeat; RNA-binding; RNA-directed RNA polymerase; T=pseudo3 icosahedral capsid protein; Thiol protease; Transferase; Transport; Viral attachment to host cell; Viral immunoevasion; Viral ion channel; Viral penetration into host cytoplasm; Viral RNA replication; Virion; Virus endocytosis by host; Virus entry into host cell; Zinc; Zinc-finger

1

30610.1

269

0.1

55.66

6.86

-0.38

-9.41

PRMT5

Homo sapiens (Human)

Shk1 kinase-binding protein 1 homolog; SKB1Hs; SKB1 homolog; SKB1; Protein arginine N-methyltransferase 5; Jak-binding protein 1; JBP1; IBP72; Histone-arginine N-methyltransferase PRMT5; HRMT1L5; 72 k

Class I-like SAM-binding methyltransferase superfamily, Protein arginine N-methyltransferase family

Methyltransferase

Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Methylates SUPT5H and may regulate its transcriptional elongation properties. Mono- and dimethylates arginine residues of myelin basic protein (MBP) in vitro. May play a role in cytokine-activated transduction pathways. Negatively regulates cyclin E1 promoter activity and cellular proliferation. Methylates histone H2A and H4 'Arg-3' during germ cell development. Methylates histone H3 'Arg-8', which may repress transcription. Methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-containing proteins and subsequent localization to the meiotic nuage. Methylates RPS10. Attenuates EGF signaling through the MAPK1/MAPK3 pathway acting at 2 levels. First, monomethylates EGFR; this enhances EGFR 'Tyr-1197' phosphorylation and PTPN6 recruitment, eventually leading to reduced SOS1 phosphorylation. Second, methylates RAF1 and probably BRAF, hence destabilizing these 2 signaling proteins and reducing their catalytic activity. Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation. Methylates HOXA9. Methylates and regulates SRGAP2 which is involved in cell migration and differentiation. Acts as a transcriptional corepressor in CRY1-mediated repression of the core circadian component PER1 by regulating the H4R3 dimethylation at the PER1 promoter. Methylates GM130/GOLGA2, regulating Golgi ribbon formation. Methylates H4R3 in genes involved in glioblastomagenesis in a CHTOP- and/or TET1-dependent manner. Symmetrically methylates POLR2A, a modification that allows the recruitment to POLR2A of proteins including SMN1/SMN2 and SETX. This is required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination. Along with LYAR, binds the promoter of gamma-globin HBG1/HBG2 and represses its expression. Symmetrically methylates NCL. Methylates TP53; methylation might possibly affect TP53 target gene specificity. Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA.

Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375]: An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. {ECO:0000269|PubMed:11062464, ECO:0000269|PubMed:11104662}. The disease is caused by variants affecting the gene represented in this entry.

NA

P01019; Q9NX04; Q8WUW1; Q08289; P78371; Q16543; Q8N8U2; P54105; P21964-2; Q9NQ92; Q16526; Q9Y6K1; Q01094; Q08426; P38919; Q14241; O15197-2; Q6ZV65; P01100; O95995; P62993; Q8TE85; Q9BX10; P62805; P31269; Q00613; Q63ZY3; P03952; Q8TBB1; P06858; Q86UQ8-1; Q96HA8; Q8WVJ2; P24928; O14744; Q86U06; Q9BRS2; O75044; Q96RU7; P31930; P40337-2; Q9BQA1; P63104; Q96E35; Q91XC0; P03418; Q6ZV65-2

EC 2.1.1.320

3D-structure; Acetylation; Alternative splicing; Biological rhythms; Chromatin regulator; Chromosome; Cytoplasm; Direct protein sequencing; Golgi apparatus; Methyltransferase; Nucleus; Proteomics identification; Reference proteome; Repressor; S-adenosyl-L-methionine; Transcription; Transcription regulation; Transferase

A

71188.3

621

0.11

44.6

5.95

-9.68

-9.41

NR3C2

Homo sapiens (Human)

Nuclear receptor subfamily 3 group C member 2; Mineralocorticoid receptor; MLR; MCR; Inner ear mineralocorticoid receptor; Delta

Nuclear hormone receptor family, NR3 subfamily

Nuclear hormone receptor

Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels. Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol.

Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]: A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. {ECO:0000269|PubMed:11134129, ECO:0000269|PubMed:12788847, ECO:0000269|PubMed:16954160, ECO:0000269|PubMed:16972228}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:605115]: Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion. {ECO:0000269|PubMed:10884226, ECO:0000269|PubMed:15908963, ECO:0000269|PubMed:15967794}. The disease is caused by variants affecting the gene represented in this entry.

DB04630; DB01013; DB04652; DB06780; DB01134; DB01395; DB00700; DB01023; DB16165; DB00687; DB13867; DB08906; DB00588; DB02998; DB00393; DB00396; DB00421; DB02901; DB13951; DB00624; DB13943; DB13944; DB15114

NA

NA

3D-structure; Alternative splicing; Cytoplasm; Disease variant; DNA-binding; Endoplasmic reticulum; Lipid-binding; Membrane; Metal-binding; Nucleus; Phosphoprotein; Proteomics identification; Receptor; Reference proteome; Steroid-binding; Transcription; Transcription regulation; Zinc; Zinc-finger

A

29012.4

249

0.12

51.27

6.3

-2.08

-9.4

PGR

Homo sapiens (Human)

PR; Nuclear receptor subfamily 3 group C member 3; NR3C3

Nuclear hormone receptor family, NR3 subfamily

Nuclear hormone receptor

Depending on the isoform, progesterone receptor functions as transcriptional activator or repressor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues.

Butyrylcholinesterase deficiency (BCHED) [MIM:617936]: An autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. {ECO:0000269|PubMed:10404729, ECO:0000269|PubMed:11928765, ECO:0000269|PubMed:12881446, ECO:0000269|PubMed:1306123, ECO:0000269|PubMed:1349196, ECO:0000269|PubMed:1415224, ECO:0000269|PubMed:15563885, ECO:0000269|PubMed:15781196, ECO:0000269|PubMed:1611188, ECO:0000269|PubMed:16788378, ECO:0000269|PubMed:17700357, ECO:0000269|PubMed:18075469, ECO:0000269|PubMed:18300943, ECO:0000269|PubMed:25054547, ECO:0000269|PubMed:25264279, ECO:0000269|PubMed:2915989, ECO:0000269|PubMed:7634491, ECO:0000269|PubMed:8554068, ECO:0000269|PubMed:8680411, ECO:0000269|PubMed:9110359, ECO:0000269|PubMed:9191541, ECO:0000269|PubMed:9388484, ECO:0000269|PubMed:9543549, ECO:0000269|PubMed:9694584}. The disease is caused by variants affecting the gene represented in this entry.

DB01431; DB06680; DB01406; DB12941; DB13857; DB00304; DB09123; DB01395; DB00378; DB11219; DB00823; DB00294; DB13867; DB08906; DB00588; DB06730; DB11619; DB11064; DB06789; DB00367; DB00431; DB09124; DB00603; DB00351; DB02998; DB00834; DB00648; DB00764; DB14512; DB06713; DB00717; DB00957; DB09389; DB01428; DB02746; DB00396; DB14583; DB00421; DB04787; DB05253; DB08867

Q9H467; P03372; P06401; P40763; P03372

NA

3D-structure; Alternative promoter usage; Alternative splicing; Cytoplasm; Direct protein sequencing; DNA-binding; Isopeptide bond; Lipid-binding; Lipoprotein; Membrane; Metal-binding; Mitochondrion; Mitochondrion outer membrane; Nucleus; Palmitate; Phosphoprotein; Proteomics identification; Receptor; Reference proteome; Steroid-binding; Transcription; Transcription regulation; Ubl conjugation; Zinc; Zinc-finger

A,B

28853.6

250

0.09

54.82

8.4

2.28

-9.39

ALDH1A3

Homo sapiens (Human)

NA

ALDH6

Aldehyde dehydrogenase family

Oxidoreductase

Aldehyde dehydrogenase (NAD) activity.Aldehyde dehydrogenase [NAD(P)+] activity.NAD+ binding.Protein homodimerization activity.Retinal dehydrogenase activity.Thyroid hormone binding.

Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269|PubMed:23312594, ECO:0000269|PubMed:23591992, ECO:0000269|PubMed:23646827, ECO:0000269|PubMed:23881059, ECO:0000269|PubMed:24024553, ECO:0000269|PubMed:24568872, ECO:0000269|PubMed:24777706}. The disease is caused by variants affecting the gene represented in this entry.

DB00157; DB00162

NA

1.2.1.36

3D-structure; Acetylation; Cytoplasm; Direct protein sequencing; Disease variant; Lipid metabolism; Microphthalmia; NAD; Oxidoreductase; Proteomics identification; Reference proteome

A,B,C,D,E,F,G,H

50635.7

461

0.09

33.75

7.07

0.15

-9.4

cumD

Pseudomonas fluorescens

NA

NA

NA

Hydrolase

Hydrolase activity.

Intellectual developmental disorder, autosomal dominant 62 (MRD62) [MIM:618793]: An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD62 is characterized by mild to moderately impaired intellectual development. {ECO:0000269|PubMed:27479843, ECO:0000269|PubMed:29460436}. The disease is caused by variants affecting the gene represented in this entry.

DB03741; DB03793; DB03568; DB02531; DB03750; DB02406; DB03766

NA

NA

3D-structure; Hydrolase

A

30307.9

271

0.1

37.49

5.02

-11.58

-9.4

DHODH

Homo sapiens (Human)

Dihydroorotate oxidase; Dihydroorotate dehydrogenase (quinone), mitochondrial; DHOdehase; DHODH

Dihydroorotate dehydrogenase family, Type 2 subfamily

CH-CH donor oxidoreductase

Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor.

Postaxial acrofacial dysostosis (POADS) [MIM:263750]: POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases. {ECO:0000269|PubMed:19915526}. The disease is caused by variants affecting the gene represented in this entry.

DB07559; DB07561; DB08172; DB08169; DB07443; DB07978; DB07975; DB04281; DB08249; DB07977; DB07976; DB04583; DB08008; DB01117; DB03523; DB03480; DB02613; DB04147; DB03247; DB01097; DB06481; DB08006; DB02262; DB05125; DB08880; DB07646

Q6ZMZ0; P49638

EC 1.3.5.2

3D-structure; Disease variant; Flavoprotein; FMN; Membrane; Mitochondrion; Mitochondrion inner membrane; Oxidoreductase; Proteomics identification; Pyrimidine biosynthesis; Reference proteome; Transit peptide; Transmembrane; Transmembrane helix

A

38341.4

353

0.05

39.27

9.28

5.52

-9.4

mop

Megalodesulfovibrio gigas (Desulfovibrio gigas)

NA

NA

Xanthine dehydrogenase family

Oxidoreductase

2 iron, 2 sulfur cluster binding.Aldehyde dehydrogenase (FAD-independent) activity.Electron carrier activity.Metal ion binding.

LTC4 synthase deficiency is associated with a neurometabolic developmental disorder characterized by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. {ECO:0000269|PubMed:10896305, ECO:0000269|PubMed:9820300}.

DB02137

NA

1.2.99.7

2Fe-2S; 3D-structure; FAD; Flavoprotein; Iron; Iron-sulfur; Metal-binding; Molybdenum; NAD; Oxidoreductase

A

96930.4

907

0.07

29.17

5.69

-17.56

-9.39

GSTK1

Homo sapiens (Human)

NA

HDCMD47P

GST superfamily, Kappa family

Transferase / transferase inhibitor

Glutathione peroxidase activity.Glutathione transferase activity.Protein disulfide oxidoreductase activity.Receptor binding.

Dyskinesia, limb and orofacial, infantile-onset (IOLOD) [MIM:616921]: An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable. {ECO:0000269|PubMed:27058446}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Striatal degeneration, autosomal dominant 2 (ADSD2) [MIM:616922]: An autosomal dominant disorder characterized by striatal degeneration and dysfunction of basal ganglia, resulting in hyperkinesis. {ECO:0000269|PubMed:27058447}. The disease is caused by variants affecting the gene represented in this entry.

DB00143; DB04700

O95273; Q8IZU0; Q60994; Q7Z3Y8

2.5.1.18

3D-structure; Acetylation; Alternative splicing; Peroxisome; Proteomics identification; Reference proteome; Transferase

A,B,C,D,E,F

24811.7

220

0.08

47.17

7.96

1.39

-9.4

CASP6

Homo sapiens (Human)

MCH2; Caspase-6 subunit p18; Caspase-6 subunit p11; CASP-6; Apoptotic protease Mch-2

Peptidase C14A family

Peptidase

Cleaves poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death. Involved in the activation cascade of caspases responsible for apoptosis execution.

Growth hormone deficiency, isolated, 1A (IGHD1A) [MIM:262400]: An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone. {ECO:0000269|PubMed:8364549}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]: An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. {ECO:0000269|PubMed:12655557}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Kowarski syndrome (KWKS) [MIM:262650]: A syndrome clinically characterized by short stature associated with bioinactive growth hormone, normal or slightly increased growth hormone secretion, pathologically low insulin-like growth factor 1 levels, and normal catch-up growth on growth hormone replacement therapy. {ECO:0000269|PubMed:17519310, ECO:0000269|PubMed:8552145, ECO:0000269|PubMed:9276733}. The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100]: An autosomal dominant deficiency of growth hormone leading to short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy. {ECO:0000269|PubMed:11502836, ECO:0000269|PubMed:9152628}. The disease is caused by variants affecting the gene represented in this entry.

NA

Q9Y614; Q6DHV7-2; Q6UY14-3; Q96MA6; Q5T2L2; Q96Q83-2; Q9Y303-2; Q9NU02; P09525; P06727; Q8WW27; Q66PJ3-4; Q6XD76; P18848; Q9H0Y0; Q14032; P54687-4; P06276; Q9NSI6-4; Q96Q07-2; Q9H0W9-3; Q9NQ89; Q13901; Q3SXR2; Q8N1A6; P17655; P20807-4; P42574; P55212; O00257-3; P24863; Q9NNX6-10; Q9UJX2; P42773; O95674; Q494V2-2; Q8WUX9; Q9Y3D0; Q8N365; Q3SX64; Q99966; P09496-2; Q6PJW8-3; Q96BR5; P02458-1; Q9UGL9; Q9UKG9-2; P26998; P35222; Q53TN4; P61962; O60479; Q96EY1-3; Q92782-2; Q9BPU6; A0AVK6; Q658K8; O00303; Q13347; O00472; O00423; Q6NXG1-3; Q49AJ0-4; Q8N128-2; Q8IZU1; Q6ZNL6; Q9NSA1; Q06547-3; Q49A26-4; Q9HAV0; Q6NXT2; Q9BT25; Q9NRZ9-6; Q96EW2-2; P42858; Q8N6M8-2; Q92613; P0C870; Q9UK76; Q8N5Z5; Q8TBB5-2; Q9UH77; Q8N4N3-2; Q5JUW0-3; Q8N1A0; P13473-2; Q6DKI2; Q9H2C1; Q8N0U6; Q9Y234; Q8TBB1; Q1L5Z9; Q96JB6; Q16609; Q8IYG6; P0DP58-2; Q969L2; P27338; A6NJ78-4; Q96C03-3; Q8N5J2-3; A0A0A0MR05; P34949-2; Q9BV20; Q6IN84-2; A2RUH7; P01106; Q9H7X0; Q15742-2; Q9UJ70-2; Q8NDH3-5; Q96HA8; P36639-4; Q8NFH4; Q8NFH3; Q7Z3B4; Q6N063-2; Q6GQQ9-2; Q9H8K7; Q99447; P27815-4; O15534; Q9BUL5; Q00169; P48739; P61925; Q58EX7-2; O60664; Q14181; P0DPB6; P36954; Q07869; O60927; Q6ZMI0-5; P54619; Q8NCQ7-2; P41222; P29074; Q8WUD1-2; Q5R372-9; Q9HD47-3; Q09028; Q04206; P47804-3; Q15382; Q06587; Q8N5U6; P62701; Q66K80; Q01826; O15126; P22307-3; Q9BRK5; Q9NTN9-3; P01011; Q15393; Q9NR46; Q9BZQ2; O60902-3; Q86US8; P37840; Q96H20; Q13573; Q7Z6I5; Q496A3; Q9C004; Q5W111-2; Q96BD6; Q92797-2; O60506-4; O15273; Q86WV5; Q96A09; P54274-2; P22735; O43548; Q9NQ88; Q9UIK5-2; Q53NU3; P04637; Q12888; P36406; Q86WT6-2; Q13885; P49459; Q9P1Q0-4; Q9NX94; Q8NA23-2; Q9BQA1; O00755; O95070; O43829; Q8IWT0-2; Q53FD0-2; Q05CR2; Q96JL9-2; Q96LX8; Q3KNS6-3; Q5JTY5; A0A384MDV8; B7Z3E8; Q86V28

EC 3.4.22.59

3D-structure; Alternative splicing; Apoptosis; Autocatalytic cleavage; Cytoplasm; Hydrolase; Lipoprotein; Nucleus; Palmitate; Phosphoprotein; Protease; Proteomics identification; Reference proteome; Thiol protease; Zymogen

A,B

57170

500

0.12

31.33

8.05

4.52

-9.4