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{{ | '''Molybdenum cofactor biosynthesis protein 1''' is a [[protein]] that in humans is encoded by the ''MOCS1'' [[gene]].<ref name="pmid9731530">{{cite journal |vauthors=Reiss J, Cohen N, Dorche C, Mandel H, Mendel RR, Stallmeyer B, Zabot MT, Dierks T | title = Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency | journal = Nat Genet | volume = 20 | issue = 1 | pages = 51–3 |date=Oct 1998 | pmid = 9731530 | pmc = | doi = 10.1038/1706 }}</ref> | ||
| | <ref name="pmid10053004">{{cite journal |vauthors=Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT | title = Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B | journal = Am J Hum Genet | volume = 64 | issue = 3 | pages = 706–11 |date=Apr 1999 | pmid = 10053004 | pmc = 1377787 | doi = 10.1086/302296 }}</ref> | ||
| | <ref name="entrez">{{cite web | title = Entrez Gene: MOCS1 molybdenum cofactor synthesis 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4337| accessdate = }}</ref> | ||
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Both copies of this gene are defective in patients with [[molybdenum cofactor deficiency]], type A.<ref name="entrez"/> | |||
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| summary_text = 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 | | summary_text = 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 [[Messenger RNA#Monocistronic versus polycistronic mRNA|bicistronic mRNA]] with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent [[open reading frame]]s. 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. | ||
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==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{cite journal | | *{{cite journal |vauthors=Reiss J, Johnson JL |title=Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. |journal=Hum. Mutat. |volume=21 |issue= 6 |pages= 569–76 |year= 2003 |pmid= 12754701 |doi= 10.1002/humu.10223 }} | ||
*{{cite journal | *{{cite journal |vauthors=Shalata A, Mandel H, Reiss J, etal |title=Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping. |journal=Am. J. Hum. Genet. |volume=63 |issue= 1 |pages= 148–54 |year= 1998 |pmid= 9634514 |doi=10.1086/301916 | pmc=1377237 }} | ||
*{{cite journal |vauthors=Feng G, Tintrup H, Kirsch J, etal |title=Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity. |journal=Science |volume=282 |issue= 5392 |pages= 1321–4 |year= 1998 |pmid= 9812897 |doi=10.1126/science.282.5392.1321 }} | |||
*{{cite journal | *{{cite journal |vauthors=Reiss J, Christensen E, Kurlemann G, etal |title=Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. |journal=Hum. Genet. |volume=103 |issue= 6 |pages= 639–44 |year= 1999 |pmid= 9921896 |doi=10.1007/s004390050884 }} | ||
*{{cite journal | *{{cite journal |vauthors=Reiss J, Christensen E, Dorche C |title=Molybdenum cofactor deficiency: first prenatal genetic analysis. |journal=Prenat. Diagn. |volume=19 |issue= 4 |pages= 386–8 |year= 1999 |pmid= 10327149 |doi=10.1002/(SICI)1097-0223(199904)19:4<386::AID-PD550>3.0.CO;2-# }} | ||
*{{cite journal |vauthors=Gray TA, Nicholls RD |title=Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames. |journal=RNA |volume=6 |issue= 7 |pages= 928–36 |year= 2000 |pmid= 10917590 |doi=10.1017/S1355838200000182 | pmc=1369970 }} | |||
*{{cite journal | | *{{cite journal |vauthors=Hänzelmann P, Schwarz G, Mendel RR |title=Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis. |journal=J. Biol. Chem. |volume=277 |issue= 21 |pages= 18303–12 |year= 2002 |pmid= 11891227 |doi= 10.1074/jbc.M200947200 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Gross-Hardt S, Reiss J |title=The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons. |journal=Mol. Genet. Metab. |volume=76 |issue= 4 |pages= 340–3 |year= 2003 |pmid= 12208140 |doi=10.1016/S1096-7192(02)00100-2 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Mungall AJ, Palmer SA, Sims SK, etal |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 }} | ||
*{{cite journal | *{{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }} | ||
*{{cite journal | *{{cite journal |vauthors=Hänzelmann P, Hernández HL, Menzel C, etal |title=Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis. |journal=J. Biol. Chem. |volume=279 |issue= 33 |pages= 34721–32 |year= 2004 |pmid= 15180982 |doi= 10.1074/jbc.M313398200 }} | ||
*{{cite journal | *{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }} | ||
*{{cite journal | *{{cite journal |vauthors=Ichida K, Aydin HI, Hosoyamada M, etal |title=A Turkish case with molybdenum cofactor deficiency. |journal=Nucleosides Nucleotides Nucleic Acids |volume=25 |issue= 9-11 |pages= 1087–91 |year= 2007 |pmid= 17065069 |doi= 10.1080/15257770600894022 }} | ||
*{{cite journal | |||
*{{cite journal | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
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{{Metabolism of vitamins, coenzymes, and cofactors}} | |||
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Revision as of 06:43, 4 September 2017
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| Location (UCSC) | n/a | n/a | |||||
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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
- ↑ 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.
- ↑ 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.
- ↑ 3.0 3.1 "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.
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