MOCS1
entrez
4337
canonical
uniprot
Q9NZB8
canonical
ensembl
ENSG00000124615
resolver
ensp
ENSP00000344794
resolver
ensp
ENSP00000362284
resolver
ensp
ENSP00000362291
resolver
ensp
ENSP00000518965
resolver
ensp
ENSP00000672975
resolver
enst
ENST00000713662
resolver
genesymbol
MOCS1
resolver
hgnc
HGNC:7190
resolver
uniprot
A0AAQ5BGM5
resolver
uniprot
B3KPT7
resolver
uniprot
B4DTP1
resolver
uniprot
O14940
resolver
uniprot
O14941
resolver
uniprot
O75710
resolver
uniprot
Q5J7W0
resolver
uniprot
Q5TCE1
resolver
uniprot
Q5TCE2
resolver
uniprot
Q5TCE6
resolver
uniprot
Q5TCE9
resolver
uniprot
Q5TCF0
resolver
uniprot
Q5TCF1
resolver
uniprot
Q8N418
resolver
uniprot
Q9NZB7
resolver
uniprot
Q9UEM1
resolver
uniprot_entry
A0AAQ5BGM5_HUMAN
resolver
uniprot_entry
MOCS1_HUMAN
resolver
uniprot_sec
B3KPT7
resolver
uniprot_sec
B4DTP1
resolver
uniprot_sec
O14940
resolver
uniprot_sec
O14941
resolver
uniprot_sec
O75710
resolver
uniprot_sec
Q5J7W0
resolver
uniprot_sec
Q5TCE1
resolver
uniprot_sec
Q5TCE2
resolver
uniprot_sec
Q5TCE6
resolver
uniprot_sec
Q5TCE9
resolver
uniprot_sec
Q5TCF0
resolver
uniprot_sec
Q5TCF1
resolver
uniprot_sec
Q8N418
resolver
uniprot_sec
Q9NZB7
resolver
uniprot_sec
Q9UEM1
resolver
amino_acid_sequence
MAARPLSRMLRRLLRSSARSCSSGAPVTQPCPGESARAASEEVSRRRQFLREHAAPFSAFLTDSFGRQHSYLRISLTEKCNLRCQYCMPEEGVPLTPKANLLTTEEILTLARLFVKEGIDKIRLTGGEPLIRPDVVDIVAQLQRLEGLRTIGVTTNGINLARLLPQLQKAGLSAINISLDTLVPAKFEFIVRRKGFHKVMEGIHKAIELGYNPVKVNCVVMRGLNEDELLDFAALTEGLPLDVRFIEYMPFDGNKWNFKKMVSYKEMLDTVRQQWPELEKVPEEESSTAKAFKIPGFQGQISFITSMSEHFCGTCNRLRITADGNLKVCLFGNSEVSLRDHLRAGASEQELLRIIGAAVGRKKRQHAGMFSISQMKNRPMILIELFLMFPNSPPANPSIFSWDPLHVQGLRPRMSFSSQVATLWKGCRVPQTPPLAQQRLGSGSFQRHYTSRADSDANSKCLSPGSWASAAPSGPQLTSEQLTHVDSEGRAAMVDVGRKPDTERVAVASAVVLLGPVAFKLVQQNQLKKGDALVVAQLAGVQAAKVTSQLIPLCHHVALSHIQVQLELDSTRHAVKIQASCRARGPTGVEMEALTSAAVAALTLYDMCKAVSRDIVLEEIKLISKTGGQRGDFHRA
uniprot
proteins
disease_involvement
DISEASE: Molybdenum cofactor deficiency, type A (MOCODA) [MIM:252150]: An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. {ECO:0000269|PubMed:12754701, ECO:0000269|PubMed:16021469, ECO:0000269|PubMed:16429380, ECO:0000269|PubMed:17065069, ECO:0000269|PubMed:19544009, ECO:0000269|PubMed:19793632, ECO:0000269|PubMed:20573177, ECO:0000269|PubMed:21031595, ECO:0000269|PubMed:21907887, ECO:0000269|PubMed:22987873, ECO:0000269|PubMed:27289259, ECO:0000269|PubMed:29368224, ECO:0000269|PubMed:30695801, ECO:0000269|PubMed:31477743, ECO:0000269|PubMed:32014857, ECO:0000269|PubMed:32099439, ECO:0000269|PubMed:33552910, ECO:0000269|PubMed:38389347, ECO:0000269|PubMed:38463082, ECO:0000269|PubMed:38808412, ECO:0000269|PubMed:39488078, ECO:0000269|PubMed:9731530, ECO:0000269|PubMed:9921896}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.1.99.22
uniprot
proteins
ec_number
4.6.1.17
uniprot
proteins
function
FUNCTION: Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to cyclic pyranopterin monophosphate (cPMP) (PubMed:11891227, PubMed:23627491, PubMed:29368224, PubMed:31996372). MOCS1A catalyzes the cyclization of GTP to (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate and MOCS1B catalyzes the subsequent conversion of (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate to cPMP (PubMed:11891227, PubMed:23627491, PubMed:29368224, PubMed:31996372). {ECO:0000269|PubMed:11891227, ECO:0000269|PubMed:23627491, ECO:0000269|PubMed:29368224, ECO:0000269|PubMed:31996372}.; FUNCTION: [Isoform 9]: Has very weak catalytic activity. {ECO:0000269|PubMed:31996372}.
uniprot
proteins
mass_dalton
70105
uniprot
proteins
mutagenesis
MUTAGEN 80; /note="C->S: Impairs precursor Z synthesis."; /evidence="ECO:0000269|PubMed:15180982"; MUTAGEN 84; /note="C->S: Impairs precursor Z synthesis."; /evidence="ECO:0000269|PubMed:15180982"; MUTAGEN 87; /note="C->S: Impairs precursor Z synthesis."; /evidence="ECO:0000269|PubMed:15180982"; MUTAGEN 312; /note="C->S: Impairs precursor Z synthesis."; /evidence="ECO:0000269|PubMed:15180982"; MUTAGEN 315; /note="C->S: Impairs precursor Z synthesis."; /evidence="ECO:0000269|PubMed:15180982"; MUTAGEN 329; /note="C->S: Impairs precursor Z synthesis."; /evidence="ECO:0000269|PubMed:15180982"; MUTAGEN Q9NZB8-2:431; /note="R->W: Decreases proteolytic cleavage of the protein."; /evidence="ECO:0000269|PubMed:31996372"; MUTAGEN Q9NZB8-2:436; /note="R->W: No effect on proteolytic cleavage of the protein."; /evidence="ECO:0000269|PubMed:31996372
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; molybdopterin biosynthesis. {ECO:0000305}.
uniprot
proteins
protein_family
MoaA family
uniprot
proteins
protein_family
MoaC family; Radical SAM superfamily
uniprot
proteins
pubmed
10917590
uniprot
proteins
pubmed
11891227
uniprot
proteins
pubmed
12208140
uniprot
proteins
pubmed
12754701
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15180982
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16021469
uniprot
proteins
pubmed
16429380
uniprot
proteins
pubmed
17065069
uniprot
proteins
pubmed
19544009
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19793632
uniprot
proteins
pubmed
20573177
uniprot
proteins
pubmed
21031595
uniprot
proteins
pubmed
21907887
uniprot
proteins
pubmed
22987873
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23627491
uniprot
proteins
pubmed
25697423
uniprot
proteins
pubmed
27289259
uniprot
proteins
pubmed
29368224
uniprot
proteins
pubmed
30695801
uniprot
proteins
pubmed
31477743
uniprot
proteins
pubmed
31996372
uniprot
proteins
pubmed
32014857
uniprot
proteins
pubmed
32099439
uniprot
proteins
pubmed
33552910
uniprot
proteins
pubmed
38389347
uniprot
proteins
pubmed
38463082
uniprot
proteins
pubmed
38808412
uniprot
proteins
pubmed
39488078
uniprot
proteins
pubmed
9731530
uniprot
proteins
pubmed
9921896
uniprot
proteins
sequence_length
636
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform MOCS1A]: Mitochondrion matrix {ECO:0000269|PubMed:31996372}.; SUBCELLULAR LOCATION: [Isoform MOCS1B]: Mitochondrion matrix {ECO:0000269|PubMed:31996372}.; SUBCELLULAR LOCATION: [Isoform 9]: Mitochondrion matrix {ECO:0000269|PubMed:31996372}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm, cytosol {ECO:0000269|PubMed:31996372}.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm {ECO:0000269|PubMed:31996372}. Note=Found in aggregates not co-localized with mitochondria. {ECO:0000269|PubMed:31996372}.; SUBCELLULAR LOCATION: [Isoform 8]: Mitochondrion matrix {ECO:0000269|PubMed:31996372}.
uniprot
proteins