MTARC2 mitochondrial amidoxime reducing component 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTARC2provided by HGNC
Official Full Name: mitochondrial amidoxime reducing component 2provided by HGNC
Primary source: HGNC:HGNC:26064
See related: Ensembl:ENSG00000117791 MIM:614127; AllianceGenome:HGNC:26064
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MARC2; MOSC2
Summary: The protein encoded by this gene is an enzyme found in the outer mitochondrial membrane that reduces N-hydroxylated substrates. The encoded protein uses molybdenum as a cofactor and cytochrome b5 type B and NADH cytochrome b5 reductase as accessory proteins. One type of substrate used is N-hydroxylated nucleotide base analogues, which can be toxic to a cell. Other substrates include N(omega)-hydroxy-L-arginine (NOHA) and amidoxime prodrugs, which are activated by the encoded enzyme. Multiple transcript variants encoding the different isoforms have been found for this gene. [provided by RefSeq, Sep 2016]
Expression: Broad expression in kidney (RPKM 32.4), liver (RPKM 26.8) and 23 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1q41

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (220748322..220784815)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (219988028..220024522)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (220921664..220958157)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

mARC2 has a pivotal role in protecting human cells against apoptotic effects of the base analog N6-hydroxylaminopurine.
Title: The pivotal role of the mitochondrial amidoxime reducing component 2 in protecting human cells against apoptotic effects of the base analog N6-hydroxylaminopurine.
Functional characteristics of protein variants encoded by nonsynonymous single nucleotide polymorphisms in MARC1 and MARC2 in healthy Caucasians were determined.
Title: Functional characterization of protein variants encoded by nonsynonymous single nucleotide polymorphisms in MARC1 and MARC2 in healthy Caucasians.
human mARC-1 and mARC-2 are capable of catalyzing reduction of nitrite to NO through reaction with its molybdenum cofactor
Title: Nitrite reductase and nitric-oxide synthase activity of the mitochondrial molybdopterin enzymes mARC1 and mARC2.
Data indicate that mitochondrial amidoxime reducing components 1 and 2 together with the electron transport proteins NADH-cytochrome b5 reductase (CYB5R) and cytochrome b5 (CYB5) catalyze the reduction of N-hydroxylated compounds such as amidoximes.
Title: The involvement of mitochondrial amidoxime reducing components 1 and 2 and mitochondrial cytochrome b5 in N-reductive metabolism in human cells.
Chlamydomonas reinhardtii ARC has a Zn-dependent activity and protein partners similar to human MARC1 and MARC2.
Title: The Chlamydomonas reinhardtii molybdenum cofactor enzyme crARC has a Zn-dependent activity and protein partners similar to those of its human homologue.
results provide the first hints that mARC might be involved in mitochondrial N(omega)-hydroxy-L-arginine reduction and could be of physiological significance in affecting endogenous nitric oxide levels.
Title: Reduction of N(ω)-hydroxy-L-arginine by the mitochondrial amidoxime reducing component (mARC).
analysis of the nature of ligands in the Mo(V) state of the active site of mARC-2
Title: Structural studies of the molybdenum center of mitochondrial amidoxime reducing component (mARC) by pulsed EPR spectroscopy and 17O-labeling.
Arc1(MOSC-1) and Arc2(MOSC-2) proteins are monomeric in their active forms.
Title: Biochemical and spectroscopic characterization of the human mitochondrial amidoxime reducing components hmARC-1 and hmARC-2 suggests the existence of a new molybdenum enzyme family in eukaryotes.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Novel association strategy with copy number variation for identifying new risk Loci of human diseases.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genomewide association study of movement-related adverse antipsychotic effects. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-76375 (e-PCR)
- UniSTS:78082

RH122974 (e-PCR)
- UniSTS:135270

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molybdenum ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables molybdenum ion binding	IDA Inferred from Direct Assay more info	PubMed
enables molybdopterin cofactor binding	IBA Inferred from Biological aspect of Ancestor more info
enables molybdopterin cofactor binding	IDA Inferred from Direct Assay more info	PubMed
enables nitrate reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables nitrate reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables nitrite reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables oxidoreductase activity, acting on other nitrogenous compounds as donors	IMP Inferred from Mutant Phenotype more info	PubMed
enables pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular detoxification of nitrogen compound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detoxification of nitrogen compound	NAS Non-traceable Author Statement more info	PubMed
involved_in nitrate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in nitrate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in nitric oxide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in peroxisome	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: mitochondrial amidoxime reducing component 2

Names: MOCO sulphurase C-terminal domain containing 2; MOSC domain-containing protein 2, mitochondrial; moco sulfurase C-terminal domain-containing protein 2; molybdenum cofactor sulfurase C-terminal domain-containing protein 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001317338.2 → NP_001304267.1 mitochondrial amidoxime reducing component 2 isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AA843271, AL359353, BC015829, BC016859, BP194343

Consensus CDS

CCDS1525.1

UniProtKB/Swiss-Prot

B2D0R5, D3DTB3, Q0JSK7, Q5VT67, Q5VXC7, Q7L317, Q969Z3, Q9H066, Q9NWU0

Conserved Domains (3) summary

COG3217
Location:56 → 331

YcbX; Uncharacterized conserved protein YcbX, contains MOSC and Fe-S domains [General function prediction only]

pfam03473
Location:199 → 332

MOSC; MOSC domain

pfam03476
Location:54 → 175

MOSC_N; MOSC N-terminal beta barrel domain
NM_001331042.2 → NP_001317971.1 mitochondrial amidoxime reducing component 2 isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AL359353, AL606726

Consensus CDS

CCDS81425.1

UniProtKB/Swiss-Prot

Q969Z3

Related

ENSP00000352266.2, ENST00000359316.6
NM_017898.5 → NP_060368.2 mitochondrial amidoxime reducing component 2 isoform a precursor

See identical proteins and their annotated locations for NP_060368.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AA843271, BC011973, BC015829, BP194343

Consensus CDS

CCDS1525.1

UniProtKB/Swiss-Prot

B2D0R5, D3DTB3, Q0JSK7, Q5VT67, Q5VXC7, Q7L317, Q969Z3, Q9H066, Q9NWU0

Related

ENSP00000355880.3, ENST00000366913.8

Conserved Domains (3) summary

COG3217
Location:56 → 331

YcbX; Uncharacterized conserved protein YcbX, contains MOSC and Fe-S domains [General function prediction only]

pfam03473
Location:199 → 332

MOSC; MOSC domain

pfam03476
Location:54 → 175

MOSC_N; MOSC N-terminal beta barrel domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

220748322..220784815

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509684.2 → XP_011507986.1 mitochondrial amidoxime reducing component 2 isoform X1

Conserved Domains (2) summary

pfam03473
Location:109 → 242

MOSC; MOSC domain

pfam03476
Location:2 → 85

MOSC_N; MOSC N-terminal beta barrel domain
XM_047423617.1 → XP_047279573.1 mitochondrial amidoxime reducing component 2 isoform X2

RNA

XR_007061333.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

219988028..220024522

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054337291.1 → XP_054193266.1 mitochondrial amidoxime reducing component 2 isoform X1
XM_054337292.1 → XP_054193267.1 mitochondrial amidoxime reducing component 2 isoform X2