MTARC1: Mitochondrial Amidoxime Reducing Component 1
A molybdenum-containing enzyme involved in drug metabolism and nitric oxide synthesis
Gene Information Card
| Symbol | MTARC1 |
|---|---|
| Full Name | Mitochondrial Amidoxime Reducing Component 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 64757 ncbi.nlm.nih.gov/gene/64757 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q5VT66 |
| OMIM ID | 614303 |
| HGNC ID | 28795 |
| Aliases | mARC1, MOSC1, MOCO1 |
Description
MTARC1 encodes the mitochondrial amidoxime reducing component 1 (mARC1), a molybdenum-containing enzyme that reduces N-hydroxylated compounds (amidoximes) to their corresponding amines. It is part of the mARC family and plays a role in drug metabolism, detoxification, and nitric oxide synthesis. The enzyme requires molybdenum cofactor and cytochrome b5 reductase for activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-alcoholic fatty liver disease (NAFLD) | Genetic variants in MTARC1 are associated with altered hepatic lipid metabolism and susceptibility to NAFLD. | GWAS studies (PMID: 32029822, 32298765) |
| Elevated liver enzymes | Missense variants (e.g., p.Arg265Trp) are linked to reduced serum alanine aminotransferase (ALT) levels. | ClinVar, GWAS catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 5.1 | Medium |
| Brain | 2.0 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 6.7 | Embryonic kidney cells |
| K562 | 1.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.793C>T (p.Arg265Trp) | Missense | 0.5% (gnomAD) | Reduced enzymatic activity; associated with lower ALT levels |
| c.1A>G (p.Met1?) | Start loss | Rare | Likely loss of function; clinical significance uncertain |
Mutation functional classification
Loss of Function (LOF)
p.Arg265Trp reduces catalytic activity; start loss variant likely abolishes protein expression.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Not described for MTARC1.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • iron ion binding (GO:0005506) |
| • oxidoreductase activity (GO:0016491) | • molybdenum ion binding (GO:0030151) |
| • oxidation-reduction process (GO:0055114) | • mitochondrion (GO:0005739) |
Pathways
• Amidoxime reduction (R-HSA-561048)
• Molybdenum cofactor biosynthesis (R-HSA-947581)
Protein Summary
MTARC1 encodes a 337-amino acid mitochondrial protein (mARC1) that contains a molybdenum cofactor-binding domain. It catalyzes the reduction of N-hydroxylated substrates, including amidoxime prodrugs and N-hydroxy-L-arginine, the latter linking it to nitric oxide production. The protein is highly expressed in liver and kidney, consistent with its role in xenobiotic metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTARC1 Knockout HEK293 Cell Line | EDJ-KQ14327 | Human | 64757 | Details Get a Quote |
| MTARC1 Knockout A-549 Cell Line | EDJ-KQ44424 | Human | 64757 | Details Get a Quote |
| MTARC1 Knockout HCT 116 Cell Line | EDJ-KQ44425 | Human | 64757 | Details Get a Quote |
| MTARC1 Knockout HeLa Cell Line | EDJ-KQ44426 | Human | 64757 | Details Get a Quote |
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