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

Gene ID: 64757, updated on 2-Nov-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, Nov 2024]
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_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (220786913..220819659)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (220026620..220059373)
RS_2024_09 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 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. Mitochondrial amidoxime-reducing component 1 p.Ala165Thr increases protein degradation mediated by the proteasome. Dutta T, et al. Liver Int, 2024 May. PMID 38375985
  2. Biochemical and functional characterization of the p.A165T missense variant of mitochondrial amidoxime-reducing component 1. Hou W, et al. J Biol Chem, 2024 Jun. PMID 38723751, 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. 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
  5. 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

See all (69) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biochemical and functional characterization of the p.A165T missense variant of mitochondrial amidoxime-reducing component 1.
    Title: Biochemical and functional characterization of the p.A165T missense variant of mitochondrial amidoxime-reducing component 1.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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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)

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 HTP PubMed 
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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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_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
    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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