MOCS1

From Wikipedia, the free encyclopedia

Molybdenum cofactor synthesis 1

Identifiers

MOCS1; KIAA0381; MIG11; MOCOD; MOCS1A; MOCS1B

External IDs

OMIM: 603707 MGI: 1928904 HomoloGene: 4343

Gene ontology
Molecular Function:	• nucleotide binding • catalytic activity • iron ion binding • GTP binding • molybdenum ion binding • metal ion binding • 4 iron, 4 sulfur cluster binding
Cellular Component:	• nucleus • molybdopterin synthase complex
Biological Process:	• Mo-molybdopterin cofactor biosynthetic process • metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_001075098 (mRNA)
NP_001068566 (protein)

XM_001003122 (mRNA)
XP_001003122 (protein)

Location

Chr 6: 39.98 - 40.01 Mb

Chr 17: 48.89 - 48.92 Mb

Pubmed search

[1]

[2]

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

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: MOCS1 molybdenum cofactor synthesis 1.

[edit] 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.
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.
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.
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.
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.
Reiss J, Christensen E, Dorche C (1999). "Molybdenum cofactor deficiency: first prenatal genetic analysis.". Prenat. Diagn. 19 (4): 386-8. 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. 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. 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.
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. 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.