Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants, whose full-length natures have yet to be determined, are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Jan 2010]
Function:
Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of a guanosine derivative to precursor Z during molybdenum cofactor biosynthesis.
Tissue Specificity:
Isoform MOCS1A and isoform 2 are widely expressed.
Post-translational modifications:
Isoform MOCS1A, isoform 2 and isoform 3 are probably thiocarboxylated at their SLCterminus. Thiocarboxylation probably plays a central role in molybdenum cofactor biosynthesis, since mutagenesis of the last 2 Gly residues of isoform MOCS1A abolishes the catalytic activity of the enzyme. Thiocarboxylation is absent in isoform MOCS1B, which lacks the SLCterminal Gly residue.
DISEASE:
Defects in MOCS1 are the cause of molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]; an autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized by severe neurological damage, neonatal seizures and early childhood death.
Similarity:
In the SLCterminal section; belongs to the moaC family.
In the N-terminal section; belongs to the moaA/nifB/pqqE family.
SWISS:
Q9NZB8
Gene ID:
4337
Database links:
Entrez Gene: 4337 Human
Entrez Gene: 56738 Mouse
Entrez Gene: 301221 Rat
Omim: 603707 Human
SwissProt: Q1JQD7 Cow
SwissProt: Q9NZB8 Human
SwissProt: Q5RKZ7 Mouse
Unigene: 718492 Human
Unigene: 22256 Mouse
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