MTARC1 Gene (Protein Coding)

Mitochondrial Amidoxime Reducing Component 1

GC01P220788
GIFtS:
28
See more...

Aliases for MTARC1 Gene

Aliases for MTARC1 Gene

  • Mitochondrial Amidoxime Reducing Component 1 2 3 5
  • MARC1 3 4 4
  • Molybdenum Cofactor Sulfurase C-Terminal Domain-Containing Protein 1 3 4
  • Moco Sulfurase C-Terminal Domain-Containing Protein 1 3 4
  • MOCO Sulphurase C-Terminal Domain Containing 1 2 3
  • Mitochondrial Amidoxime-Reducing Component 1 3 4
  • MOSC1 3 4
  • MOSC Domain-Containing Protein 1, Mitochondrial 3
  • MOSC Domain-Containing Protein 1 4
  • EC 1.7.-.- 4
  • FLJ22390 2
  • MTARC1 5

External Ids for MTARC1 Gene

Previous HGNC Symbols for MTARC1 Gene

  • MOSC1
  • MARC1

Summaries for MTARC1 Gene

GeneCards Summary for MTARC1 Gene

MTARC1 (Mitochondrial Amidoxime Reducing Component 1) is a Protein Coding gene. Diseases associated with MTARC1 include Good Syndrome and Microphthalmia, Syndromic 10. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. An important paralog of this gene is ENSG00000286231.

UniProtKB/Swiss-Prot Summary for MTARC1 Gene

  • Catalyzes the reduction of N-oxygenated molecules, acting as a counterpart of cytochrome P450 and flavin-containing monooxygenases in metabolic cycles (PubMed:19053771, PubMed:21029045, PubMed:30397129). As a component of prodrug-converting system, reduces a multitude of N-hydroxylated prodrugs particularly amidoximes, leading to increased drug bioavailability (PubMed:19053771). May be involved in mitochondrial N(omega)-hydroxy-L-arginine (NOHA) reduction, regulating endogenous nitric oxide levels and biosynthesis (PubMed:21029045). Postulated to cleave the N-OH bond of N-hydroxylated substrates in concert with electron transfer from NADH to cytochrome b5 reductase then to cytochrome b5, the ultimate electron donor that primes the active site for substrate reduction (PubMed:21029045, PubMed:19053771).

Additional gene information for MTARC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTARC1 Gene

Genomics for MTARC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MTARC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J220785 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 266.6 +0.8 773 3.9 ZBTB10 FEZF1 BRCA1 ZIC2 ZNF610 CEBPB SIN3A CTCF ZNF639 MAX MTARC1 ENSG00000286231 C1orf115 HSALNG0010758 HLX
GH01J220746 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 9.4 -37.3 -37326 5.2 ZBTB10 MXD4 CEBPA ZNF610 CEBPB MAX SMAD4 SAP130 ZNF341 POLR2A HSALNG0010752 MTARC2 RF00017-482 C1orf115 MTARC1
GH01J220689 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 6.5 -95.6 -95596 3 ZBTB10 CEBPA ZNF217 CTCF ZBTB7B ZEB1 ZIC2 ZNF610 TRIM22 SMAD4 C1orf115 MTARC1 HSALNG0010747 MTARC2
GH01J220766 Enhancer 0.9 ENCODE 12.8 -18.6 -18637 3.5 CEBPA ZIC2 KDM6A FOXA2 ZNF511 MAFF SMAD4 SAP130 TAL1 RXRA NONHSAG004355.2 C1orf115 MTARC1 MTARC2 HSALNG0010754
GH01J220770 Enhancer 0.6 ENCODE 16 -16.1 -16112 0.9 EBF1 MAX PRDM10 IKZF1 ZNF687 TRIM22 ZBTB33 DPF2 RELB ARNT NONHSAG004355.2 MTARC1 C1orf115 HSALNG0010757 MTARC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTARC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTARC1

Genomic Locations for MTARC1 Gene

Latest Assembly
chr1:220,786,697-220,819,659
(GRCh38/hg38)
Size:
32,963 bases
Orientation:
Plus strand

Previous Assembly
chr1:220,960,255-220,993,001
(GRCh37/hg19 by Entrez Gene)
Size:
32,747 bases
Orientation:
Plus strand

chr1:220,960,101-220,987,735
(GRCh37/hg19 by Ensembl)
Size:
27,635 bases
Orientation:
Plus strand

Genomic View for MTARC1 Gene

Genes around MTARC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTARC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTARC1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MTARC1 Gene

Proteins for MTARC1 Gene

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  • Protein details for MTARC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VT66-MARC1_HUMAN
    Recommended name:
    Mitochondrial amidoxime-reducing component 1
    Protein Accession:
    Q5VT66
    Secondary Accessions:
    • A8K447
    • B2D078
    • Q5VVS9
    • Q5VVT0
    • Q5VVT1
    • Q8N9P5
    • Q96FN8
    • Q9H6C7

    Protein attributes for MTARC1 Gene

    Size:
    337 amino acids
    Molecular mass:
    37499 Da
    Cofactor:
    Name=Mo-molybdopterin; Xref=ChEBI:CHEBI:71302;
    Quaternary structure:
    • Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase and MTARC1.
    SequenceCaution:
    • Sequence=BAB15333.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MTARC1 Gene

    Alternative splice isoforms for MTARC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTARC1 Gene

Post-translational modifications for MTARC1 Gene

  • Ubiquitination at Lys310
  • Modification sites at PhosphoSitePlus

Other Protein References for MTARC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MTARC1 Gene

Domains & Families for MTARC1 Gene

Gene Families for MTARC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MTARC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MTARC1 Gene

GenScript: Design optimal peptide antigens:
  • MOSC domain-containing protein 1, mitochondrial (MOSC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VT66

UniProtKB/Swiss-Prot:

MARC1_HUMAN :
  • Comprises two structural domains, the molybdenum cofactor/Moco sulfurase C-terminal (MOSC) domain and the MOSC N-terminal region, forming a cleft that accommodates Moco. The MOSC domain, which contains a large seven-stranded mostly antiparallel beta-barrel, engages multiple interactions with Moco both pterin ring and phosphate group, allowing for a tight coordination of Moco within the core of the enzyme.
Domain:
  • Comprises two structural domains, the molybdenum cofactor/Moco sulfurase C-terminal (MOSC) domain and the MOSC N-terminal region, forming a cleft that accommodates Moco. The MOSC domain, which contains a large seven-stranded mostly antiparallel beta-barrel, engages multiple interactions with Moco both pterin ring and phosphate group, allowing for a tight coordination of Moco within the core of the enzyme.
genes like me logo Genes that share domains with MTARC1: view

Function for MTARC1 Gene

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Molecular function for MTARC1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reduction of N-oxygenated molecules, acting as a counterpart of cytochrome P450 and flavin-containing monooxygenases in metabolic cycles (PubMed:19053771, PubMed:21029045, PubMed:30397129). As a component of prodrug-converting system, reduces a multitude of N-hydroxylated prodrugs particularly amidoximes, leading to increased drug bioavailability (PubMed:19053771). May be involved in mitochondrial N(omega)-hydroxy-L-arginine (NOHA) reduction, regulating endogenous nitric oxide levels and biosynthesis (PubMed:21029045). Postulated to cleave the N-OH bond of N-hydroxylated substrates in concert with electron transfer from NADH to cytochrome b5 reductase then to cytochrome b5, the ultimate electron donor that primes the active site for substrate reduction (PubMed:21029045, PubMed:19053771).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(II)-cytochrome b5] + 2 H(+) + N(omega)-hydroxy-L-arginine = 2 [Fe(III)-cytochrome b5] + H2O + L-arginine; Xref=Rhea:RHEA:61644, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:32682, ChEBI:CHEBI:60107; Evidence={ECO:0000269|PubMed:21029045};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=180 uM for benzamidoxime {ECO:0000269|PubMed:21029045}; KM=86 uM for NOHA {ECO:0000269|PubMed:21029045}; KM=272 uM for NHAM {ECO:0000269|PubMed:21029045}; Vmax=34 nmol/min/mg enzyme toward benzamidoxime {ECO:0000269|PubMed:21029045}; Vmax=105 nmol/min/mg enzyme toward benzamidoxime (at pH 6.0 and 37 degrees Celsius) {ECO:0000269|PubMed:24423752}; Vmax=55 nmol/min/mg enzyme toward NOHA {ECO:0000269|PubMed:21029045}; Vmax=43 nmol/min/mg enzyme toward NHAM {ECO:0000269|PubMed:21029045};

Enzyme Numbers (IUBMB) for MTARC1 Gene

Phenotypes From GWAS Catalog for MTARC1 Gene

Gene Ontology (GO) - Molecular Function for MTARC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 32296183
GO:0008940 nitrate reductase activity IBA,IDA 20861021
GO:0016491 oxidoreductase activity IEA --
GO:0016661 oxidoreductase activity, acting on other nitrogenous compounds as donors IDA 25713076
genes like me logo Genes that share ontologies with MTARC1: view

Phenotypes for MTARC1 Gene

GenomeRNAi human phenotypes for MTARC1:
genes like me logo Genes that share phenotypes with MTARC1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTARC1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTARC1 Gene

Localization for MTARC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTARC1 Gene

Mitochondrion outer membrane. Single-pass type II membrane protein. Membrane. Lipid-anchor. Note=Mitochondrial import is mediated by AA 1-40 and requires ATP.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTARC1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTARC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,ISS 20861021
GO:0005741 mitochondrial outer membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:1903958 nitric-oxide synthase complex IDA 24500710
genes like me logo Genes that share ontologies with MTARC1: view

Pathways & Interactions for MTARC1 Gene

genes like me logo Genes that share pathways with MTARC1: view

Pathways by source for MTARC1 Gene

Gene Ontology (GO) - Biological Process for MTARC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS --
GO:0006809 nitric oxide biosynthetic process IDA 24500710
GO:0042126 nitrate metabolic process IBA,IDA 20861021
GO:0051410 detoxification of nitrogen compound NAS 20861021
GO:0055114 oxidation-reduction process IBA --
genes like me logo Genes that share ontologies with MTARC1: view

No data available for SIGNOR curated interactions for MTARC1 Gene

Drugs & Compounds for MTARC1 Gene

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  1. Drug products for research

(1) Drugs for MTARC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Molybdenum Approved Pharma 28
genes like me logo Genes that share compounds with MTARC1: view

Transcripts for MTARC1 Gene

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mRNA/cDNA for MTARC1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTARC1

Alternative Splicing Database (ASD) splice patterns (SP) for MTARC1 Gene

No ASD Table

Relevant External Links for MTARC1 Gene

GeneLoc Exon Structure for
MTARC1

Expression for MTARC1 Gene

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  1. Primer products for research

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for MTARC1 Gene:

Hs.497816

Evidence on tissue expression from TISSUES for MTARC1 Gene

  • Kidney(4.3)
  • Adrenal gland(4.2)
  • Eye(4.1)
  • Liver(2.7)
genes like me logo Genes that share expression patterns with MTARC1: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTARC1 Gene

Orthologs for MTARC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTARC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MOSC1 30
  • 99.31 (n)
MARC1 31
  • 99 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MARC1 30 31
  • 86.45 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MARC1 30 31
  • 86.21 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Marc1 30
  • 80.17 (n)
Mouse
(Mus musculus)
 Mammalia Marc1 30 31
  • 79.34 (n)
 OneToOne
Mtarc1 17
Platypus
(Ornithorhynchus anatinus)
 Mammalia MARC1 31
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MARC2 30
  • 67.59 (n)
-- 31
  • 56 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 56 (a)
 ManyToMany
-- 31
  • 55 (a)
 ManyToMany
-- 31
  • 48 (a)
 ManyToMany
-- 31
  • 6 (a)
 ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100487963 30
  • 58.88 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.25253 30
Zebrafish
(Danio rerio)
 Actinopterygii zgc:110783 30
  • 58.36 (n)
MARC2 31
  • 45 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta CG1665 31
  • 29 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea F56A11.5 30 31
  • 48.63 (n)
 ManyToMany
F53E10.1 31
  • 29 (a)
 ManyToMany
F22B8.7 31
  • 29 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 17 (a)
 OneToMany
Species where no ortholog for MTARC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MTARC1 Gene

ENSEMBL:
Gene Tree for MTARC1 (if available)
TreeFam:
Gene Tree for MTARC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTARC1: view image

Paralogs for MTARC1 Gene

Paralogs for MTARC1 Gene

genes like me logo Genes that share paralogs with MTARC1: view

Variants for MTARC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTARC1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs111997659 Benign: not provided 220,813,282(+) C/T
NM_022746.4(MTARC1):c.888-10C>T 		INTRON
rs12023067 Benign: not provided. - 220,791,501(+) G/Cp.Val96Leu
NM_022746.4(MTARC1):c.286G>C (p.Val96Leu) 		MISSENSE
rs17850677 Benign: not provided. - 220,796,753(+) T/Ap.Met187Lys
NM_022746.4(MTARC1):c.560T>A (p.Met187Lys) 		MISSENSE
rs200421901 Benign: not provided 220,791,572(+) C/T
NM_022746.4(MTARC1):c.357C>T (p.Cys119=) 		SYNONYMOUS
rs72470600 Benign: not provided 220,797,921(+) G/A
NM_022746.4(MTARC1):c.660G>A (p.Ser220=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTARC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MTARC1 Gene

Variant ID Type Subtype PubMed ID
esv1008867 CNV deletion 20482838

Variation tolerance for MTARC1 Gene

Residual Variation Intolerance Score: 91.9% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTARC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTARC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTARC1 Gene

Disorders for MTARC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MTARC1 Gene - From: COP

Disorder Aliases PubMed IDs
good syndrome
  • thymoma with hypogammaglobulinemia
microphthalmia, syndromic 10
  • mcops10
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MTARC1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MTARC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTARC1 Gene

Publications for MTARC1 Gene

  1. Crystal structure of human mARC1 reveals its exceptional position among eukaryotic molybdenum enzymes. (PMID: 30397129) Kubitza C … Scheidig AJ (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 4
  2. Functional characterization of protein variants encoded by nonsynonymous single nucleotide polymorphisms in MARC1 and MARC2 in healthy Caucasians. (PMID: 24423752) Ott G … Havemeyer A (Drug metabolism and disposition: the biological fate of chemicals 2014) 3 4
  3. The mitochondrial amidoxime-reducing component (mARC1) is a novel signal-anchored protein of the outer mitochondrial membrane. (PMID: 23086957) Klein JM … Schwarz G (The Journal of biological chemistry 2012) 3 4
  4. Reduction of N(ω)-hydroxy-L-arginine by the mitochondrial amidoxime reducing component (mARC). (PMID: 21029045) Kotthaus J … Clement B (The Biochemical journal 2011) 3 4
  5. The fourth molybdenum containing enzyme mARC: cloning and involvement in the activation of N-hydroxylated prodrugs. (PMID: 19053771) Gruenewald S … Clement B (Journal of medicinal chemistry 2008) 3 4

ExternalLinks

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