MOCS1

Molybdenum cofactor synthesis 1
Identifiers
Symbols	MOCS1 ; MIG11; MOCOD; MOCODA
External IDs	OMIM: 603707 MGI: 1928904 HomoloGene: 129502 GeneCards: MOCS1 Gene
EC number	4.1.99.18
Gene ontology Molecular function • GTP binding • metal ion binding • 4 iron, 4 sulfur cluster binding • cyclic pyranopterin monophosphate synthase activity Cellular component • nucleus • cytosol • molybdopterin synthase complex Biological process • vitamin metabolic process • water-soluble vitamin metabolic process • Mo-molybdopterin cofactor biosynthetic process • molybdopterin cofactor biosynthetic process • small molecule metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4337	56738
Ensembl	ENSG00000124615	ENSMUSG00000064120
UniProt	Q9NZB8	n/a
RefSeq (mRNA)	NM_001075098	n/a
RefSeq (protein)	NP_001068566	n/a
Location (UCSC)	Chr 6: 39.9 – 39.93 Mb	Chr 17: 48.89 – 48.92 Mb
PubMed search

Molybdenum cofactor biosynthesis protein 1 is a protein that in humans is encoded by the MOCS1 gene.^{[1] [2] [3]}

Both copies of this gene are defective in patients with molybdenum cofactor deficiency, type A.^[3]

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.

References

1. Reiss J, Cohen N, Dorche C, Mandel H, Mendel RR, Stallmeyer B, Zabot MT, Dierks T (Oct 1998). "Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency". Nat Genet 20 (1): 51–3. doi:10.1038/1706. PMID 9731530.
2. Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT (Apr 1999). "Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B". Am J Hum Genet 64 (3): 706–11. doi:10.1086/302296. PMC 1377787. PMID 10053004.
3. "Entrez Gene: MOCS1 molybdenum cofactor synthesis 1".

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. doi:10.1086/301916. PMC 1377237. PMID 9634514.
• 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. doi:10.1126/science.282.5392.1321. PMID 9812897.
• 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. doi:10.1007/s004390050884. PMID 9921896.
• Reiss J, Christensen E, Dorche C (1999). "Molybdenum cofactor deficiency: first prenatal genetic analysis.". Prenat. Diagn. 19 (4): 386–8. doi:10.1002/(SICI)1097-0223(199904)19:4<386::AID-PD550>3.0.CO;2-#. PMID 10327149.
• Gray TA, Nicholls RD (2000). "Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames.". RNA 6 (7): 928–36. doi:10.1017/S1355838200000182. PMC 1369970. 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.
• 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. doi:10.1016/S1096-7192(02)00100-2. 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. PMC 139241. PMID 12477932.
• 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.
• 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.
• 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.
• 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. PMC 528928. PMID 15489334.
• 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.