MTARC1

protein-coding

mitochondrial amidoxime reducing component 1

Gene summary

Enables molybdenum ion binding activity; molybdopterin cofactor binding activity; and oxidoreductase activity, acting on other nitrogenous compounds as donors. Contributes to nitrite reductase (NO-forming) activity. Involved in cellular detoxification of nitrogen compound; nitrate metabolic process; and nitric oxide biosynthetic process. Located in mitochondrion. Part of nitric-oxide synthase complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

MOSC1
MARC1

MANE transcript

NM_022746.4

Inheritance

—

ClinVar variants

U:52B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr1:220,786,352-220,819,659

External References & Databases

Ensembl (ENSG00000186205)

Transcript & Mutation Effects

hg38 • Region Span ~33.3 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MTARC1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 51

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022746.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					2 clinvar	2
missense			49 clinvar	2 clinvar	2 clinvar	53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	52	2	4	58

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 35 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022746.4	RefSeq	NP_073583.3	7	MANE Select
ENST00000366910.10	Ensembl	ENSP00000355877.5	7	MANE Select
ENST00000407981.6	Ensembl	ENSP00000385327.2	6	Standard
ENST00000443880.1	Ensembl	ENSP00000409634.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Phase I - Functionalization of compounds
Biological oxidations
Metabolism

Biological Process

nitrate metabolic process
detoxification of nitrogen compound
oxidation-reduction process

Molecular Function

nitrate reductase activity
molybdenum ion binding
pyridoxal phosphate binding
molybdopterin cofactor binding

Cellular Component

mitochondrion
mitochondrial outer membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000366910
Coding exons: 7
Length: 27635
Individuals with no LoFs: 125651
Homozygous LoFs: 1
Heterozygous LoFs: 96
Defined: 125748
p: 0.000386

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.584	151	173	0.875	0.00000958	2110
Missense (PolyPhen)		32	47.404	0.67505		574
Synonymous	0.819	64	72.9	0.878	0.00000432	723
Loss of Function	0.740	13	16.2	0.802	9.45e-7	177

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00042	0.00040	rare
Ashkenazi Jewish	0.0048	0.0047	notable
East Asian	0.00022	0.00022	rare
Finnish	0.00019	0.00018	rare
European (Non-Finnish)	0.00015	0.00015	rare
South Asian	0.00020	0.00020	rare
Other	0.0010	0.00081	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: As a component of an N-hydroxylated prodrug-converting complex required to reduce N-hydroxylated prodrugs, such as benzamidoxime. Also able to reduce N(omega)-hydroxy-L-arginine (NOHA) and N(omega)-hydroxy-N(delta)-methyl-L-arginine (NHAM) into L-arginine and N(delta)-methyl-L-arginine, respectively. {ECO:0000269|PubMed:19053771}.;

Recessive Scores

pRec: 0.100

Intolerance Scores

RVIS EVS: 0.11
RVIS percentile EVS: 61.91

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium