Contents

MOCS1

Protein-coding gene in the species Homo sapiens

MOCS1
Identifiers
Aliases	MOCS1, MIG11, MOCOD, MOCODA, molybdenum cofactor synthesis 1, MOCS1A, MOCS1B
External IDs	OMIM: 603707; MGI: 1928904; HomoloGene: 129502; GeneCards: MOCS1; OMA:MOCS1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p21.2 Start 39,899,578 bp[1] End 39,934,551 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 C Start 49,735,390 bp[2] End 49,762,463 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart popliteal artery tibial arteries right lung pancreatic ductal cell right lobe of liver subcutaneous adipose tissue mucosa of transverse colon gastrocnemius muscle tibial nerve Top expressed in granulocyte muscle of thigh tail of embryo lip genital tubercle right kidney esophagus ascending aorta left lobe of liver duodenum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding nucleotide binding 4 iron, 4 sulfur cluster binding catalytic activity lyase activity GTP binding iron-sulfur cluster binding GTP 3',8'-cyclase activity cyclic pyranopterin monophosphate synthase activity Cellular component molybdopterin synthase complex cytosol nucleus Biological process Mo-molybdopterin cofactor biosynthetic process molybdopterin cofactor biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4337 56738 Ensembl ENSG00000124615 ENSMUSG00000064120 UniProt Q9NZB8 Q5RKZ7 RefSeq (mRNA) NM_001075098 NM_005942 NM_005943 NM_138928 NM_001358529 NM_001358530 NM_001358531 NM_001358533 NM_001358534 NM_020042 NM_028464 RefSeq (protein) NP_001068566 NP_005934 NP_001345458 NP_001345459 NP_001345460 NP_001345462 NP_001345463 NP_064426 NP_082740 Location (UCSC) Chr 6: 39.9 – 39.93 Mb Chr 17: 49.74 – 49.76 Mb PubMed search [3] [4]
Wikidata
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Molybdenum cofactor biosynthesis protein 1 is a protein that in humans and other animals, fungi, and cellular slime molds, is encoded by the MOCS1 gene.^{[5][6] [7] [8]}

Both copies of this gene are defective in patients with molybdenum cofactor deficiency, type A.^[8]

Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in molybdopterin biosynthesis. (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.) Two of the splice variants found for this gene express proteins (MOCS1A-MOCS1B) that result from a fusion between the two open reading frames.

References[edit]

Further reading[edit]

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