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    MTARC1 mitochondrial amidoxime reducing component 1 [ Homo sapiens (human) ]

    Gene ID: 64757, updated on 6-May-2024

    Summary

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    Official Symbol
    MTARC1provided by HGNC
    Official Full Name
    mitochondrial amidoxime reducing component 1provided by HGNC
    Primary source
    HGNC:HGNC:26189
    See related
    Ensembl:ENSG00000186205 MIM:614126; AllianceGenome:HGNC:26189
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MARC1; MOSC1
    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, Apr 2022]
    Expression
    Biased expression in fat (RPKM 66.4), thyroid (RPKM 15.8) and 6 other tissues See more
    Orthologs
    all
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    Genomic context

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    See MTARC1 in Genome Data Viewer
    Location:
    1q41
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (220786913..220819659)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (220026620..220059373)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (220960255..220993001)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes 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 mitochondrial amidoxime reducing component 2 Neighboring gene Sharpr-MPRA regulatory region 12019 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:220948701-220948855 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 Neighboring gene long intergenic non-protein coding RNA 1352

    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
    • 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. MARC1 p.A165T variant is associated with decreased markers of liver injury and enhanced antioxidant capacity in autoimmune hepatitis. Janik MK, et al. Sci Rep, 2021 Dec 23. PMID 34949757, Free PMC Article
    2. A genome-first approach to mortality and metabolic phenotypes in MTARC1 p.Ala165Thr (rs2642438) heterozygotes and homozygotes. Schneider CV, et al. Med, 2021 Jul 9. PMID 34258604, Free PMC Article
    3. A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. Emdin CA, et al. PLoS Genet, 2020 Apr. PMID 32282858, Free PMC Article
    4. The fourth molybdenum containing enzyme mARC: cloning and involvement in the activation of N-hydroxylated prodrugs. Gruenewald S, et al. J Med Chem, 2008 Dec 25. PMID 19053771
    5. MTARC1 and HSD17B13 Variants Have Protective Effects on Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric Surgery. Kalinowski P, et al. Int J Mol Sci, 2022 Dec 13. PMID 36555467, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mitochondrial amidoxime-reducing component 1 p.Ala165Thr increases protein degradation mediated by the proteasome.
      Title: Mitochondrial amidoxime-reducing component 1 p.Ala165Thr increases protein degradation mediated by the proteasome.
    2. mARC1 in MASLD: Modulation of lipid accumulation in human hepatocytes and adipocytes.
      Title: mARC1 in MASLD: Modulation of lipid accumulation in human hepatocytes and adipocytes.
    3. Divergent role of Mitochondrial Amidoxime Reducing Component 1 (MARC1) in human and mouse.
      Title: Divergent role of Mitochondrial Amidoxime Reducing Component 1 (MARC1) in human and mouse.
    4. Fatty liver disease protective MTARC1 p.A165T variant reduces the protein stability of MTARC1.
      Title: Fatty liver disease protective MTARC1 p.A165T variant reduces the protein stability of MTARC1.
    5. MTARC1 and HSD17B13 Variants Have Protective Effects on Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric Surgery.
      Title: MTARC1 and HSD17B13 Variants Have Protective Effects on Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric Surgery.
    6. Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men.
      Title: Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men.
    7. Variants in mitochondrial amidoxime reducing component 1 and hydroxysteroid 17-beta dehydrogenase 13 reduce severity of nonalcoholic fatty liver disease in children and suppress fibrotic pathways through distinct mechanisms.
      Title: Variants in mitochondrial amidoxime reducing component 1 and hydroxysteroid 17-beta dehydrogenase 13 reduce severity of nonalcoholic fatty liver disease in children and suppress fibrotic pathways through distinct mechanisms.
    8. A genome-first approach to mortality and metabolic phenotypes in MTARC1 p.Ala165Thr (rs2642438) heterozygotes and homozygotes.
      Title: A genome-first approach to mortality and metabolic phenotypes in MTARC1 p.Ala165Thr (rs2642438) heterozygotes and homozygotes.
    9. MARC1 p.A165T variant is associated with decreased markers of liver injury and enhanced antioxidant capacity in autoimmune hepatitis.
      Title: MARC1 p.A165T variant is associated with decreased markers of liver injury and enhanced antioxidant capacity in autoimmune hepatitis.
    10. Genome-Wide Association Study for Alcohol-Related Cirrhosis Identifies Risk Loci in MARC1 and HNRNPUL1.
      Title: Genome-Wide Association Study for Alcohol-Related Cirrhosis Identifies Risk Loci in MARC1 and HNRNPUL1.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    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
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genetic and clinical correlates of early-outgrowth colony-forming units.
    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

    • FLJ22390

    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 
    contributes_to nitrite reductase (NO-forming) 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    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
    		 PubMed 
    part_of nitric-oxide synthase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitochondrial amidoxime-reducing component 1
    Names
    MOCO sulphurase C-terminal domain containing 1
    MOSC domain-containing protein 1, mitochondrial
    moco sulfurase C-terminal domain-containing protein 1
    molybdenum cofactor sulfurase C-terminal domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    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)

    1. NM_022746.4 → NP_073583.3  mitochondrial amidoxime-reducing component 1 precursor

      See identical proteins and their annotated locations for NP_073583.3

      Status: VALIDATED

      Source sequence(s)
      AK290812, AL445423, CA439234, CB048738, DA878171
      Consensus CDS
      CCDS1526.1
      UniProtKB/Swiss-Prot
      A8K447, B2D078, Q5VT66, Q5VVS9, Q5VVT0, Q5VVT1, Q8N9P5, Q96FN8, Q9H6C7
      UniProtKB/TrEMBL
      A0A8Q3SHG3
      Related
      ENSP00000355877.5, ENST00000366910.10
      Conserved Domains (3) summary
      COG3217
      Location:57 → 335
      YcbX; Uncharacterized conserved protein YcbX, contains MOSC and Fe-S domains [General function prediction only]
      pfam03473
      Location:204 → 333
      MOSC; MOSC domain
      pfam03476
      Location:55 → 176
      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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      220786913..220819659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509900.4 → XP_011508202.1  mitochondrial amidoxime-reducing component 1 isoform X1

      UniProtKB/TrEMBL
      A0A8Q3SHG3
      Conserved Domains (3) summary
      COG3217
      Location:57 → 352
      YcbX; Uncharacterized conserved protein YcbX, contains MOSC and Fe-S domains [General function prediction only]
      pfam03473
      Location:204 → 350
      MOSC; MOSC domain
      pfam03476
      Location:55 → 176
      MOSC_N; MOSC N-terminal beta barrel domain

    2. XM_011509904.4 → XP_011508206.1  mitochondrial amidoxime-reducing component 1 isoform X4

      UniProtKB/TrEMBL
      H7BYZ9
      Related
      ENSP00000385327.2, ENST00000407981.6
      Conserved Domains (2) summary
      pfam03473
      Location:102 → 248
      MOSC; MOSC domain
      pfam03476
      Location:1 → 74
      MOSC_N; MOSC N-terminal beta barrel domain

    3. XM_011509903.4 → XP_011508205.1  mitochondrial amidoxime-reducing component 1 isoform X2

      UniProtKB/TrEMBL
      H7BYZ9
      Conserved Domains (2) summary
      pfam03473
      Location:121 → 267
      MOSC; MOSC domain
      pfam03476
      Location:7 → 93
      MOSC_N; MOSC N-terminal beta barrel domain

    4. XM_017002096.3 → XP_016857585.1  mitochondrial amidoxime-reducing component 1 isoform X3

      UniProtKB/TrEMBL
      A0A8Q3SHL7
      Related
      ENSP00000511593.1, ENST00000694918.1

    RNA

    1. XR_001737362.2 RNA Sequence

    2. XR_921908.2 RNA Sequence

    3. XR_007063025.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      220026620..220059373
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338280.1 → XP_054194255.1  mitochondrial amidoxime-reducing component 1 isoform X1

    2. XM_054338283.1 → XP_054194258.1  mitochondrial amidoxime-reducing component 1 isoform X4

    3. XM_054338281.1 → XP_054194256.1  mitochondrial amidoxime-reducing component 1 isoform X2

    4. XM_054338282.1 → XP_054194257.1  mitochondrial amidoxime-reducing component 1 isoform X3

    RNA

    1. XR_008486140.1 RNA Sequence

    2. XR_008486139.1 RNA Sequence

    3. XR_008486141.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VT66.1 GenPept UniProtKB/Swiss-Prot:Q5VT66

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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