MTARC1
Identifiers
AliasesMTARC1, MOSC1, mitochondrial amidoxime reducing component 1, MARC1
External IDsOMIM: 614126 MGI: 1913362 HomoloGene: 129604 GeneCards: MTARC1
Orthologs
SpeciesHumanMouse
Entrez

64757

66112

Ensembl

ENSG00000186205

ENSMUSG00000026621

UniProt

Q5VT66

Q9CW42

RefSeq (mRNA)

NM_022746

NM_001081361
NM_001290273

RefSeq (protein)

NP_073583

NP_001277202

Location (UCSC)Chr 1: 220.79 – 220.82 MbChr 1: 184.52 – 184.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mitochondrial amidoxime-reducing component 1 (also known as MOCO sulphurase C-terminal domain containing 1, MOSC1 or MARC1) is a mammalian molybdenum-containing enzyme. It is located in the outer mitochondrial membrane and consists of a N-terminal mitochondrial signal domain facing the inter-membrane space, a transmembrane domain, and a C-terminal catalytic domain facing the cytosol.[5] In humans it is encoded by the MOSC1 gene.[6][7]

MOCO stands for molybdenum cofactor.

MOSC1 has been reported to reduce amidoximes to amidines.[8][9]

Genetic variation in MARC1 has been reported to be associated with lower blood cholesterol levels, blood liver enzyme levels, reduced liver fat and protection from cirrhosis suggesting that MARC1 deficiency may protect against liver disease.[10] A genome-wide association study involving subjects from the UK Biobank further established as association of alcoholic-related liver disease.[11]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000186205 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026621 - 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. ↑ Klein JM, Busch JD, Potting C, Baker MJ, Langer T, Schwarz G (December 2012). "The mitochondrial amidoxime-reducing component (mARC1) is a novel signal-anchored protein of the outer mitochondrial membrane". The Journal of Biological Chemistry. 287 (51): 42795–42803. doi:10.1074/jbc.M112.419424. PMC 3525010. PMID 23086957.
  6. ↑ Anantharaman V, Aravind L (January 2002). "MOSC domains: ancient, predicted sulfur-carrier domains, present in diverse metal-sulfur cluster biosynthesis proteins including Molybdenum cofactor sulfurases". FEMS Microbiology Letters. 207 (1): 55–61. doi:10.1016/S0378-1097(01)00515-8. PMID 11886751.
  7. ↑ "Entrez Gene: Mitochondrial amidoxime reducing component 1". Retrieved 2016-03-03.
  8. ↑ Havemeyer A, Bittner F, Wollers S, Mendel R, Kunze T, Clement B (November 2006). "Identification of the missing component in the mitochondrial benzamidoxime prodrug-converting system as a novel molybdenum enzyme". The Journal of Biological Chemistry. 281 (46): 34796–34802. doi:10.1074/jbc.M607697200. PMID 16973608.
  9. ↑ Gruenewald S, Wahl B, Bittner F, Hungeling H, Kanzow S, Kotthaus J, et al. (December 2008). "The fourth molybdenum containing enzyme mARC: cloning and involvement in the activation of N-hydroxylated prodrugs". Journal of Medicinal Chemistry. 51 (24): 8173–8177. doi:10.1021/jm8010417. PMID 19053771.
  10. ↑ Emdin CA, Haas ME, Khera AV, Aragam K, Chaffin M, Klarin D, et al. (April 2020). "A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease". PLoS Genetics. 16 (4): e1008629. bioRxiv 10.1101/594523. doi:10.1371/journal.pgen.1008629. PMC 7200007. PMID 32282858.
  11. ↑ Romeo S (October 2020). "MARC1 and HNRNPUL1: Two Novel Players in Alcohol-related Liver Disease". Gastroenterology. 159 (4): 1231–1232. doi:10.1053/j.gastro.2020.08.009. PMID 32800779.
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