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

Gene ID: 54996, updated on 24-Nov-2020

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
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

Genomic context

See MTARC2 in Genome Data Viewer
Location:
1q41
Exon count:
10
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (220747417..220784815)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (220921325..220958157)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microtubule affinity regulating kinase 1 Neighboring gene histone deacetylase 1 pseudogene 2 Neighboring gene chromosome 1 open reading frame 115 Neighboring gene mitochondrial amidoxime reducing component 1 Neighboring gene RNA, U6atac small nuclear 35, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genomewide association study of movement-related adverse antipsychotic effects.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20605

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molybdenum ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molybdenum ion binding IDA
Inferred from Direct Assay
more info
PubMed 
molybdopterin cofactor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molybdopterin cofactor binding IDA
Inferred from Direct Assay
more info
PubMed 
nitrate reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nitrate reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
nitrite reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity, acting on other nitrogenous compounds as donors IMP
Inferred from Mutant Phenotype
more info
PubMed 
pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular detoxification of nitrogen compound IMP
Inferred from Mutant Phenotype
more info
PubMed 
detoxification of nitrogen compound NAS
Non-traceable Author Statement
more info
PubMed 
nitrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nitrate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
nitric oxide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
peroxisome IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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)

  1. NM_001317338.2NP_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
    Q969Z3
    Conserved Domains (3) summary
    COG3217
    Location:56331
    YcbX; Uncharacterized conserved protein YcbX, contains MOSC and Fe-S domains [General function prediction only]
    pfam03473
    Location:199332
    MOSC; MOSC domain
    pfam03476
    Location:54175
    MOSC_N; MOSC N-terminal beta barrel domain
  2. NM_001331042.2NP_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
  3. NM_017898.5NP_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
    Q969Z3
    Related
    ENSP00000355880.3, ENST00000366913.8
    Conserved Domains (3) summary
    COG3217
    Location:56331
    YcbX; Uncharacterized conserved protein YcbX, contains MOSC and Fe-S domains [General function prediction only]
    pfam03473
    Location:199332
    MOSC; MOSC domain
    pfam03476
    Location:54175
    MOSC_N; MOSC N-terminal beta barrel domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    220747417..220784815
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    pfam03473
    Location:109242
    MOSC; MOSC domain
    pfam03476
    Location:285
    MOSC_N; MOSC N-terminal beta barrel domain

RNA

  1. XR_247029.5 RNA Sequence

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