MOCS2

Molybdenum cofactor synthesis protein 2A and molybdenum cofactor synthesis protein 2B are a pair of proteins that in humans are encoded from the same MOCS2 gene.[5][6][7] These two proteins dimerize to form molybdopterin synthase.

MOCS2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMOCS2, MCBPE, MOCO1, MOCODB, MPTS, molybdenum cofactor synthesis 2
External IDsOMIM: 603708 MGI: 1336894 HomoloGene: 32193 GeneCards: MOCS2
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q11.2Start53,095,679 bp[1]
End53,110,063 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

4338

17434

Ensembl

ENSG00000164172

ENSMUSG00000015536

UniProt

O96007
O96033

Q9Z223
Q9Z224

RefSeq (mRNA)

NM_176806
NM_004531

NM_001113374
NM_001113375
NM_013826

RefSeq (protein)

NP_004522
NP_789776
NP_789776.1

NP_001106845
NP_001106846
NP_038854

Location (UCSC)Chr 5: 53.1 – 53.11 MbChr 13: 114.82 – 114.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin and the catalytically active metal molybdenum. MoCo is synthesized from cyclic pyranopterin monophosphate (precursor Z) by the heterodimeric enzyme molybdopterin synthase.[7]

Gene

The large and small subunits of molybdopterin synthase are both encoded from the MOCS2 gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits.[7]

The MOCS2 gene contains 7 exons. Exons 1 to 3 encode MOCS2A (the small subunit), and exons 3 to 7 encode MOCS2B (large subunit).[5]

Genetic disease

Defects in both copies of MOCS2 cause the molybdenum cofactor deficiency disease in babies.[8]

Protein structure

MOCS2A and MOCS2B subunits form dimers in solution. These dimers in turn dimerize to form the tetrameric molybdopterin synthase complex.[9]

References

  1. GRCh38: Ensembl release 89: ENSG00000164172 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000015536 - 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. Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT (March 1999). "Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B". American Journal of Human Genetics. 64 (3): 706–11. doi:10.1086/302296. PMC 1377787. PMID 10053004.
  6. Sloan J, Kinghorn JR, Unkles SE (February 1999). "The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames". Nucleic Acids Research. 27 (3): 854–8. doi:10.1093/nar/27.3.854. PMC 148257. PMID 9889283.
  7. EntrezGene 4338: MOCS2 molybdenum cofactor synthesis 2
  8. Ichida K, Aydin HI, Hosoyamada M, et al. (2006). "A Turkish case with molybdenum cofactor deficiency". Nucleosides, Nucleotides & Nucleic Acids. 25 (9–11): 1087–91. doi:10.1080/15257770600894022. PMID 17065069. S2CID 40601679.
  9. Leimkuhler S, Freuer A, Araujo JA, Rajagopalan KV, Mendel RR (July 2003). "Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency". The Journal of Biological Chemistry. 278 (28): 26127–34. doi:10.1074/jbc.M303092200. PMID 12732628.

Further reading


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