MOCS1

Molybdenum cofactor synthesis 1
Identifiers
Symbols	MOCS1 ; KIAA0381; MIG11; MOCOD; MOCS1A; MOCS1B
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4343
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE MOCS1 211673 s at tn.png
File:PBB GE MOCS1 213181 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Molybdenum cofactor synthesis 1, also known as MOCS1, is a human gene.

Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in molybdenum cofactor 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. This gene is defective in patients with molybdenum cofactor deficiency, type A.

Further reading

• Reiss J, Johnson JL (2003). "Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH". Hum. Mutat. 21 (6): 569–76. doi:10.1002/humu.10223. PMID 12754701.
• Shalata A, Mandel H, Reiss J; et al. (1998). "Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping". Am. J. Hum. Genet. 63 (1): 148–54. PMID 9634514.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reiss J, Cohen N, Dorche C; et al. (1998). "Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency". Nat. Genet. 20 (1): 51–3. doi:10.1038/1706. PMID 9731530.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Feng G, Tintrup H, Kirsch J; et al. (1998). "Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity". Science. 282 (5392): 1321–4. PMID 9812897.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reiss J, Christensen E, Kurlemann G; et al. (1999). "Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.". Hum. Genet. 103 (6): 639–44. PMID 9921896.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reiss J, Dorche C, Stallmeyer B; et al. (1999). "Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.". Am. J. Hum. Genet. 64 (3): 706–11. PMID 10053004.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reiss J, Christensen E, Dorche C (1999). "Molybdenum cofactor deficiency: first prenatal genetic analysis". Prenat. Diagn. 19 (4): 386–8. PMID 10327149.CS1 maint: Multiple names: authors list (link)
• Gray TA, Nicholls RD (2000). "Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames". RNA. 6 (7): 928–36. PMID 10917590.
• Hänzelmann P, Schwarz G, Mendel RR (2002). "Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis". J. Biol. Chem. 277 (21): 18303–12. doi:10.1074/jbc.M200947200. PMID 11891227.CS1 maint: Multiple names: authors list (link)
• Gross-Hardt S, Reiss J (2003). "The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons". Mol. Genet. Metab. 76 (4): 340–3. PMID 12208140.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mungall AJ, Palmer SA, Sims SK; et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hänzelmann P, Hernández HL, Menzel C; et al. (2004). "Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis". J. Biol. Chem. 279 (33): 34721–32. doi:10.1074/jbc.M313398200. PMID 15180982.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ichida K, Aydin HI, Hosoyamada M; et al. (2007). "A Turkish case with molybdenum cofactor deficiency". Nucleosides Nucleotides Nucleic Acids. 25 (9–11): 1087–91. doi:10.1080/15257770600894022. PMID 17065069.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)