MTARC1

mitochondrial amidoxime reducing component 1

Basic information

Region (hg38): 1:220786352-220819659

Previous symbols: [ "MOSC1", "MARC1" ]

Links

ENSG00000186205 ∙ NCBI:64757 ∙ OMIM:614126 ∙ HGNC:26189 ∙ Uniprot:Q5VT66 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MTARC1 gene.

• not_specified (47 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTARC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022746.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			45	2	2	49
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	2	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTARC1	protein_coding	protein_coding	ENST00000366910	7	27635

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.52e-8	0.383	125651	1	96	125748	0.000386

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.584	151	173	0.875	0.00000958	2110
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000423	0.000423
Ashkenazi Jewish	0.00476	0.00467
East Asian	0.000217	0.000217
Finnish	0.000186	0.000185
European (Non-Finnish)	0.000152	0.000149
Middle Eastern	0.000217	0.000217
South Asian	0.000200	0.000196
Other	0.00103	0.000815

dbNSFP

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}.
• Pathway: Phase I - Functionalization of compounds;Biological oxidations;Metabolism (Consensus)

Recessive Scores

• pRec: 0.100

Intolerance Scores

• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.91

Haploinsufficiency Scores

• pHI: 0.469
• hipred: N
• hipred_score: 0.131
• ghis: 0.458

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Marc1

Gene ontology

• Biological process: nitrate metabolic process;detoxification of nitrogen compound;oxidation-reduction process
• Cellular component: mitochondrion;mitochondrial outer membrane;integral component of membrane
• Molecular function: nitrate reductase activity;molybdenum ion binding;pyridoxal phosphate binding;molybdopterin cofactor binding