MOCS1

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
View/Edit Human View/Edit Mouse

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 gene contains two open reading frames, termed MOCS1A and MOCS1B. The former is a GTP 3',8-cyclase homologous to MoaA, the latter a cyclic pyranopterin monophosphate synthase homologous to MoaC. The two work in series in the biosynthetic pathway. ^[9]

The gene has a complex pattern of alternative splicing. MOCS1A is produced by a splice variant that appears to be a bicistronic mRNA containing both ORFs, but this mRNA actually only translates to MOCS1A. Two of the splice variants found for this gene express proteins (MOCS1A-MOCS1B) that result from a fusion between the two open reading frames; active MOCS1B is only produced in a form preceded by an inactive version of MOCS1A. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000124615 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000064120 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "MOCS1 - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 19 July 2018.
6. 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. S2CID   23833158.
7. 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.
8. "Entrez Gene: MOCS1 molybdenum cofactor synthesis 1".
9. https://www.uniprot.org/uniprotkb/Q9NZB8

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. S2CID   41013043.
• 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. Bibcode:1998Sci...282.1321F. 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. S2CID   5247017.
• 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. S2CID   196592216.
• 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2003Natur.425..805M. 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. S2CID   40601679.