MTARC1 (mitochondrial amidoxime reducing component 1)

Gene

• Entrez ID: 64757
• Gene name: Mitochondrial amidoxime reducing component 1
• Gene symbol: MTARC1
• Synonyms (NCBI Gene): MARC1, MOSC1
• Chromosome: 1
• Chromosome location: 1q41

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS	20861021
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0006809	Process	Nitric oxide biosynthetic process	IDA	24500710
GO:0008940	Function	Nitrate reductase activity	IBA
GO:0008940	Function	Nitrate reductase activity	IDA	20861021
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016661	Function	Oxidoreductase activity, acting on other nitrogenous compounds as donors	IDA	25713076
GO:0030151	Function	Molybdenum ion binding	IBA
GO:0030151	Function	Molybdenum ion binding	IDA	20861021, 30397129
GO:0030151	Function	Molybdenum ion binding	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0042126	Process	Nitrate metabolic process	IBA
GO:0042126	Process	Nitrate metabolic process	IDA	20861021
GO:0043546	Function	Molybdopterin cofactor binding	IBA
GO:0043546	Function	Molybdopterin cofactor binding	IDA	20861021, 30397129
GO:0046872	Function	Metal ion binding	IEA
GO:0050421	Function	Nitrite reductase (NO-forming) activity	IDA	24500710
GO:0051410	Process	Detoxification of nitrogen compound	NAS	20861021
GO:0070458	Process	Cellular detoxification of nitrogen compound	IMP	25713076
GO:0098809	Function	Nitrite reductase activity	IDA	24500710
GO:1903958	Component	Nitric-oxide synthase complex	IDA	24500710

Other IDs

• MIM: 614126
• HGNC: 26189
• e!Ensembl: ENSG00000186205

Protein

• UniProt ID: Q5VT66
• Protein name: Mitochondrial amidoxime-reducing component 1 (mARC1) (EC 1.7.-.-) (Molybdenum cofactor sulfurase C-terminal domain-containing protein 1) (MOSC domain-containing protein 1) (Moco sulfurase C-terminal domain-containing protein 1)
• Protein function: Catalyzes the reduction of N-oxygenated molecules, acting as a counterpart of cytochrome P450 and flavin-containing monooxygenases in metabolic cycles (PubMed:19053771, PubMed:21029045, PubMed:30397129). As a component of prodrug-converting syst
• PDB: 6FW2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03476	MOSC_N	55 → 176	MOSC N-terminal beta barrel domain	Domain
  PF03473	MOSC	202 → 333	MOSC domain	Domain

• Sequence:

  MGAAGSSALARFVLLAQSRPGWLGVAALGLTAVALGAVAWRRAWPTRRRRLLQQVGTVAQ
  LWIYPVKSCKGVPVSEAECTAMGLRSGNLRDRFWLVINQEGNMVTARQEPRLVLISLTCD
  GDTLTLSAAYTKDLLLPIKTPTTNAVHKCRVHGLEIEGRDCGEATAQWITSFLKSQPYRL
  VHFEPHMRPRRPHQIADLFRPKDQIAYSDTSPFLILSEASLADLNSRLEKKVKATNFRPN
  IVISGCDVYAEDSWDELLIGDVELKRVMACSRCILTTVDPDTGVMSRKEPLETLKSYRQC
  DPSERKLYGKSPLFGQYFVLENPGTIKVGDPVYLLGQ

• Sequence length: 337

Pathways

Reactome:

Phase I - Functionalization of compounds

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29964053		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29964053		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34258604	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	32282858, 35411667	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	34949757	Associate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	36233117	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	36555467, 40650184	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	32282858, 34258604, 36555467, 37686209, 40650184	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	36555467	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	34258604, 34949757	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	36555467	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29964053		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34258604	Associate	★☆☆☆☆ Found in Text Mining only