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

    Gene ID: 54996, updated on 28-Oct-2024

    Summary

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    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
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    Genomic context

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    See MTARC2 in Genome Data Viewer
    Location:
    1q41
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (220748322..220784815)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (219988028..220024522)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (220921664..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 H3K4me1 hESC enhancer GRCh37_chr1:220856220-220856720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1826 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:220869747-220870946 Neighboring gene chromosome 1 open reading frame 115 Neighboring gene uncharacterized LOC124904516 Neighboring gene Sharpr-MPRA regulatory region 12019 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:220948701-220948855 Neighboring gene mitochondrial amidoxime reducing component 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:220986059-220987258 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:220991871-220992562 Neighboring gene uncharacterized LOC124900455 Neighboring gene RNA, U6atac small nuclear 35, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. The mitochondrial amidoxime reducing component (mARC): involvement in metabolic reduction of N-oxides, oximes and N-hydroxyamidinohydrazones. Jakobs HH, et al. ChemMedChem, 2014 Oct. PMID 25045021
    2. Identification of the missing component in the mitochondrial benzamidoxime prodrug-converting system as a novel molybdenum enzyme. Havemeyer A, et al. J Biol Chem, 2006 Nov 17. PMID 16973608
    3. The mammalian molybdenum enzymes of mARC. Ott G, et al. J Biol Inorg Chem, 2015 Mar. PMID 25425164
    4. Expression and Function of mARC: Roles in Lipogenesis and Metabolic Activation of Ximelagatran. Neve EP, et al. PLoS One, 2015. PMID 26378779, Free PMC Article
    5. The mitochondrial Amidoxime Reducing Component (mARC) is involved in detoxification of N-hydroxylated base analogues. Krompholz N, et al. Chem Res Toxicol, 2012 Nov 19. PMID 22924387

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CIRC-MARC2 SILENCING PROTECTS HUMAN CARDIOMYOCYTES FROM HYPOXIA/REOXYGENATION-INDUCED INJURY BY MODULATING MIR-335-5P/TRPM7 AXIS.
      Title: CIRC-MARC2 SILENCING PROTECTS HUMAN CARDIOMYOCYTES FROM HYPOXIA/REOXYGENATION-INDUCED INJURY BY MODULATING MIR-335-5P/TRPM7 AXIS.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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).
    8. 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.
    9. 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.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20605

    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 HTP PubMed 
    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

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    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)

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    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_001317338.2 → 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

    2. 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

    3. 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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      220748322..220784815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. XM_047423617.1 → XP_047279573.1  mitochondrial amidoxime reducing component 2 isoform X2

    RNA

    1. XR_007061333.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      219988028..220024522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

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

    RNA

    1. XR_008486083.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969Z3.1 GenPept UniProtKB/Swiss-Prot:Q969Z3

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