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This gene encodes an enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) enzymes. XDH catalyzes the conversion of hypoxanthine to uric acid via xanthine, as well as the conversion of allopurinol to oxypurinol, and pyrazinamide to 5-hydroxy pyrazinamide. Mutations in this gene cause the metabolic disorder classical xanthinuria type II which is characterized by the loss of XDH/XO and AO enzyme activity, decreased levels of uric acid in the urine, increased levels of xanthine and hypoxanthine in the serum and urine, formation of xanthine stones in the urinary tract, and myositis due to tissue deposition of xanthine. [provided by RefSeq, Apr 2017]
MOCOS (Molybdenum Cofactor Sulfurase) is a Protein Coding gene. Diseases associated with MOCOS include Xanthinuria, Type Ii and Xanthinuria. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity and lyase activity. An important paralog of this gene is MTARC1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0005515 | protein binding | IPI | 21516116 |
GO:0008265 | Mo-molybdopterin cofactor sulfurase activity | IMP | 11302742 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016829 | lyase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005575 | cellular_component | ND | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of water-soluble vitamins and cofactors | ||
2 | Folate biosynthesis | ||
3 | Metabolism |
.40
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006777 | Mo-molybdopterin cofactor biosynthetic process | IEA | -- |
GO:0032324 | molybdopterin cofactor biosynthetic process | TAS | -- |
GO:0043545 | molybdopterin cofactor metabolic process | IMP | 11302742 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Hydrogen Ion |
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This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MOCOS 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MOCOS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MOCOS 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mocos 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mocos 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MOCOS 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MOCOS 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MOCOS 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MOCOS 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | mocos 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | MOCOS_ANOGA 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | mal 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | mocs-1 30 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ABA3 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639841 | Uncertain Significance: Xanthinuria type II | 36,199,895(+) | C/T | MISSENSE_VARIANT | |
644865 | Uncertain Significance: Xanthinuria type II | 36,198,734(+) | A/G | MISSENSE_VARIANT | |
651388 | Uncertain Significance: Xanthinuria type II | 36,215,538(+) | A/G | MISSENSE_VARIANT | |
651732 | Uncertain Significance: Xanthinuria type II | 36,220,150(+) | A/C | MISSENSE_VARIANT | |
654063 | Uncertain Significance: Xanthinuria type II | 36,187,553(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2667651 | CNV | deletion | 23128226 |
esv3304219 | CNV | mobile element insertion | 20981092 |
esv3642217 | CNV | loss | 21293372 |
esv3642218 | CNV | loss | 21293372 |
esv3642219 | CNV | gain | 21293372 |
esv3642220 | CNV | loss | 21293372 |
esv987550 | CNV | deletion | 20482838 |
nsv1064616 | CNV | gain | 25217958 |
nsv130568 | CNV | deletion | 16902084 |
nsv522803 | CNV | loss | 19592680 |
nsv576651 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
xanthinuria, type ii |
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xanthinuria |
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purine-pyrimidine metabolic disorder |
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molybdenum cofactor deficiency, complementation group a |
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alkaptonuria |
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