MOCS2
entrez
4338
canonical
uniprot
O96007
canonical
ensembl
ENSG00000164172
resolver
ensp
ENSP00000355160
resolver
ensp
ENSP00000380157
resolver
ensp
ENSP00000411022
resolver
ensp
ENSP00000424267
resolver
ensp
ENSP00000426274
resolver
ensp
ENSP00000462870
resolver
ensp
ENSP00000464663
resolver
ensp
ENSP00000525472
resolver
ensp
ENSP00000525473
resolver
ensp
ENSP00000525474
resolver
ensp
ENSP00000525475
resolver
ensp
ENSP00000525476
resolver
ensp
ENSP00000525477
resolver
ensp
ENSP00000525478
resolver
ensp
ENSP00000525479
resolver
ensp
ENSP00000525480
resolver
ensp
ENSP00000525481
resolver
ensp
ENSP00000525482
resolver
ensp
ENSP00000525483
resolver
ensp
ENSP00000525484
resolver
ensp
ENSP00000525485
resolver
ensp
ENSP00000525486
resolver
ensp
ENSP00000600058
resolver
enst
ENST00000361377
resolver
enst
ENST00000396954
resolver
enst
ENST00000450852
resolver
enst
ENST00000508922
resolver
enst
ENST00000510818
resolver
enst
ENST00000582677
resolver
enst
ENST00000584946
resolver
enst
ENST00000855413
resolver
enst
ENST00000855414
resolver
enst
ENST00000855415
resolver
enst
ENST00000855416
resolver
enst
ENST00000855417
resolver
enst
ENST00000855418
resolver
enst
ENST00000855419
resolver
enst
ENST00000855420
resolver
enst
ENST00000855421
resolver
enst
ENST00000855422
resolver
enst
ENST00000855423
resolver
enst
ENST00000855424
resolver
enst
ENST00000855425
resolver
enst
ENST00000855426
resolver
enst
ENST00000855427
resolver
enst
ENST00000929999
resolver
genesymbol
MOCS2
resolver
genesymbol_syn
MCBPE
resolver
genesymbol_syn
MOCO1
resolver
hgnc
HGNC:7193
resolver
uniprot
O96033
resolver
uniprot
Q6IAI3
resolver
uniprot_entry
MOC2A_HUMAN
resolver
uniprot_entry
MOC2B_HUMAN
resolver
uniprot_sec
Q6IAI3
resolver
amino_acid_sequence
MSSLEISSSCFSLETKLPLSPPLVEDSAFEPSRKDMDEVEEKSKDVINFTAEKLSVDEVSQLVISPLCGAISLFVGTTRNNFEGKKVISLEYEAYLPMAENEVRKICSDIRQKWPVKHIAVFHRLGLVPVSEASIIIAVSSAHRAASLEAVSYAIDTLKAKVPIWKKEIYEESSTWKGNKECFWASNS
uniprot
proteins
amino_acid_sequence
MVPLCQVEVLYFAKSAEITGVRSETISVPQEIKALQLWKEIETRHPGLADVRNQIIFAVRQEYVELGDQLLVLQPGDEIAVIPPISGG
uniprot
proteins
disease_involvement
DISEASE: Molybdenum cofactor deficiency, type B1 (MOCODB1) [MIM:252160]: An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood. {ECO:0000269|PubMed:10053004, ECO:0000269|PubMed:11746050, ECO:0000269|PubMed:12732628, ECO:0000269|PubMed:12754701, ECO:0000269|PubMed:16021469, ECO:0000269|PubMed:16737835, ECO:0000269|PubMed:17158010, ECO:0000269|PubMed:17704913, ECO:0000269|PubMed:20865336, ECO:0000269|PubMed:21031595, ECO:0000269|PubMed:22453920, ECO:0000269|PubMed:22759696, ECO:0000269|PubMed:27289259, ECO:0000269|PubMed:30900395, ECO:0000269|PubMed:31848698, ECO:0000269|PubMed:34674206, ECO:0000269|PubMed:35692435, ECO:0000269|PubMed:39005576, ECO:0000269|PubMed:39695700}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
disease_involvement
DISEASE: Molybdenum cofactor deficiency, type B1 (MOCODB1) [MIM:252160]: An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood. {ECO:0000269|PubMed:10053004, ECO:0000269|PubMed:12754701, ECO:0000269|PubMed:16021469, ECO:0000269|PubMed:16737835, ECO:0000269|PubMed:20865336, ECO:0000269|PubMed:21031595, ECO:0000269|PubMed:21907887, ECO:0000269|PubMed:23147983, ECO:0000269|PubMed:25709896, ECO:0000269|PubMed:29696052, ECO:0000269|PubMed:31201073, ECO:0000269|PubMed:33066491, ECO:0000269|PubMed:33502714, ECO:0000269|PubMed:34012852, ECO:0000269|PubMed:36980992, ECO:0000269|PubMed:37371303, ECO:0000269|PubMed:39695700}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.8.1.12
uniprot
proteins
function
FUNCTION: Acts as a sulfur carrier required for molybdopterin biosynthesis (PubMed:22453920). Component of the molybdopterin synthase complex that catalyzes the conversion of precursor Z into molybdopterin by mediating the incorporation of 2 sulfur atoms into precursor Z to generate a dithiolene group. In the complex, serves as sulfur donor by being thiocarboxylated (-COSH) at its C-terminus by MOCS3 (PubMed:25709896, PubMed:12732628, PubMed:22453920). After interaction with MOCS2B, the sulfur is then transferred to precursor Z to form molybdopterin (PubMed:22453920). {ECO:0000255|HAMAP-Rule:MF_03051, ECO:0000269|PubMed:12732628, ECO:0000269|PubMed:22453920, ECO:0000269|PubMed:25709896}.
uniprot
proteins
function
FUNCTION: Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group (By similarity) (PubMed:12732628, PubMed:15073332, PubMed:25709896). Together with MBIP, inhibits the activity of stress kinase EIF2AK2/PKR; this may suppress JNK activation and subsequent stress-responsive transcription, or suppress eIF2a phosphorylation to favor translation (PubMed:26705305). {ECO:0000255|HAMAP-Rule:MF_03052, ECO:0000269|PubMed:12732628, ECO:0000269|PubMed:15073332, ECO:0000269|PubMed:25709896, ECO:0000269|PubMed:26705305}.
uniprot
proteins
mass_dalton
20944
uniprot
proteins
mass_dalton
9755
uniprot
proteins
mutagenesis
MUTAGEN 88; /note="G->GG: Decreases MOCS3-dependent AMP formation and thiocarboxylation."; /evidence="ECO:0000269|PubMed:22453920"; MUTAGEN 88; /note="Missing: Abolishes MOCS3-dependent AMP formation and thiocarboxylation, and decreases nuclear localization."; /evidence="ECO:0000269|PubMed:22453920
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; molybdopterin biosynthesis. {ECO:0000255|HAMAP-Rule:MF_03051}.
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; molybdopterin biosynthesis. {ECO:0000255|HAMAP-Rule:MF_03052}.
uniprot
proteins
post_translational_modification
PTM: C-terminal thiocarboxylation occurs in 2 steps, it is first acyl-adenylated (-COAMP) via the hesA/moeB/thiF part of MOCS3, then thiocarboxylated (-COSH) via the rhodanese domain of MOCS3. {ECO:0000255|HAMAP-Rule:MF_03051, ECO:0000269|PubMed:12732628, ECO:0000269|PubMed:15073332, ECO:0000269|PubMed:15910006, ECO:0000269|PubMed:17459099, ECO:0000269|PubMed:18491921}.
uniprot
proteins
protein_family
MOCS2A subfamily
uniprot
proteins
protein_family
MOCS2B subfamily
uniprot
proteins
protein_family
MoaD family
uniprot
proteins
protein_family
MoaE family
uniprot
proteins
pubmed
10053003
uniprot
proteins
pubmed
10053004
uniprot
proteins
pubmed
11746050
uniprot
proteins
pubmed
12732628
uniprot
proteins
pubmed
12754701
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15073332
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15910006
uniprot
proteins
pubmed
16021469
uniprot
proteins
pubmed
16737835
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17158010
uniprot
proteins
pubmed
17459099
uniprot
proteins
pubmed
17704913
uniprot
proteins
pubmed
18491921
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20865336
uniprot
proteins
pubmed
21031595
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21907887
uniprot
proteins
pubmed
22453920
uniprot
proteins
pubmed
22759696
uniprot
proteins
pubmed
23147983
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25709896
uniprot
proteins
pubmed
26705305
uniprot
proteins
pubmed
27289259
uniprot
proteins
pubmed
29696052
uniprot
proteins
pubmed
30900395
uniprot
proteins
pubmed
31201073
uniprot
proteins
pubmed
31848698
uniprot
proteins
pubmed
33066491
uniprot
proteins
pubmed
33502714
uniprot
proteins
pubmed
34012852
uniprot
proteins
pubmed
34674206
uniprot
proteins
pubmed
35692435
uniprot
proteins
pubmed
36980992
uniprot
proteins
pubmed
37371303
uniprot
proteins
pubmed
39005576
uniprot
proteins
pubmed
39695700
uniprot
proteins
pubmed
9889283
uniprot
proteins
sequence_length
188
uniprot
proteins
sequence_length
88
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000255|HAMAP-Rule:MF_03051, ECO:0000269|PubMed:15073332, ECO:0000269|PubMed:22453920}. Nucleus {ECO:0000269|PubMed:22453920}.
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000255|HAMAP-Rule:MF_03052, ECO:0000269|PubMed:15073332, ECO:0000269|PubMed:26705305}. Nucleus {ECO:0000269|PubMed:26705305}.
uniprot
proteins