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{{Infobox_gene}}
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'''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]].<ref>{{cite web |title=MOCS1 - Gene - NCBI |url=https://www.ncbi.nlm.nih.gov/gene/?term=MOCS1 |website=www.ncbi.nlm.nih.gov |accessdate=19 July 2018}}</ref><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>
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<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>
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<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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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Both copies of this gene are defective in patients with [[molybdenum cofactor deficiency]], type A.<ref name="entrez"/>
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Molybdenum cofactor synthesis 1
| HGNCid = 7190
| Symbol = MOCS1
| AltSymbols =; KIAA0381; MIG11; MOCOD; MOCS1A; MOCS1B
| OMIM = 603707
| ECnumber = 
| Homologene = 4343
| MGIid = 1928904
| GeneAtlas_image1 = PBB_GE_MOCS1_211673_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_MOCS1_213181_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003824 |text = catalytic activity}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0005525 |text = GTP binding}} {{GNF_GO|id=GO:0030151 |text = molybdenum ion binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}} {{GNF_GO|id=GO:0051539 |text = 4 iron, 4 sulfur cluster binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0019008 |text = molybdopterin synthase complex}}
| Process = {{GNF_GO|id=GO:0006777 |text = Mo-molybdopterin cofactor biosynthetic process}} {{GNF_GO|id=GO:0008152 |text = metabolic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 4337
    | Hs_Ensembl = ENSG00000124615
    | Hs_RefseqProtein = NP_001068566
    | Hs_RefseqmRNA = NM_001075098
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 39980813
    | Hs_GenLoc_end = 40010229
    | Hs_Uniprot = O14940
    | Mm_EntrezGene = 56738
    | Mm_Ensembl = ENSMUSG00000064120
    | Mm_RefseqmRNA = XM_001003122
    | Mm_RefseqProtein = XP_001003122
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 17
    | Mm_GenLoc_start = 48894009
    | Mm_GenLoc_end = 48920354
    | Mm_Uniprot = 
  }}
}}
'''Molybdenum cofactor synthesis 1''', also known as '''MOCS1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MOCS1 molybdenum cofactor synthesis 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4337| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| 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 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.<ref name="entrez">{{cite web | title = Entrez Gene: MOCS1 molybdenum cofactor synthesis 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4337| accessdate = }}</ref>
| 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 ([[Cyclic pyranopterin monophosphate synthase|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.  
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=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  |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 | author=Shalata A, Mandel H, Reiss J, ''et al.'' |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= }}
*{{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 | author=Reiss J, Cohen N, Dorche C, ''et al.'' |title=Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. |journal=Nat. Genet. |volume=20 |issue= 1 |pages= 51-3 |year= 1998 |pmid= 9731530 |doi= 10.1038/1706 }}
*{{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 | author=Feng G, Tintrup H, Kirsch J, ''et al.'' |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=  }}
*{{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 | author=Reiss J, Christensen E, Kurlemann G, ''et al.'' |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= }}
*{{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  | author=Reiss J, Dorche C, Stallmeyer B, ''et al.'' |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 |year= 1999 |pmid= 10053004 |doi= }}
*{{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  | author=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=  }}
*{{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  | author=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=  }}
*{{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  | author=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   |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  | author=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=  }}
*{{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 | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{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 | author=Mungall AJ, Palmer SA, Sims SK, ''et al.'' |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   |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 | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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   |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 | author=Hänzelmann P, Hernández HL, Menzel C, ''et al.'' |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   |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 | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
*{{cite journal | author=Ichida K, Aydin HI, Hosoyamada M, ''et al.'' |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 }}
}}
}}
{{refend}}
{{refend}}


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{{Metabolism of vitamins, coenzymes, and cofactors}}
 
 
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Latest revision as of 19:02, 19 July 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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.[1][2] [3] [4]

Both copies of this gene are defective in patients with molybdenum cofactor deficiency, type A.[4]

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. ↑ "MOCS1 - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 19 July 2018.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 4.0 4.1 "Entrez Gene: MOCS1 molybdenum cofactor synthesis 1".

Further reading



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