Aliases for MOCS1 Gene
External Ids for MOCS1 Gene
Previous GeneCards Identifiers for MOCS1 Gene
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 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, Nov 2017]
GeneCards Summary for MOCS1 Gene
MOCS1 (Molybdenum Cofactor Synthesis 1) is a Protein Coding gene. Diseases associated with MOCS1 include Molybdenum Cofactor Deficiency, Complementation Group A and Molybdenum Cofactor Deficiency. Among its related pathways are Folate biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include GTP binding and iron-sulfur cluster binding.
UniProtKB/Swiss-Prot for MOCS1 Gene
Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5-GTP to cyclic pyranopterin monophosphate (cPMP). 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.