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    ATOX1 antioxidant 1 copper chaperone [ Homo sapiens (human) ]

    Gene ID: 475, updated on 15-Jun-2019

    Summary

    Official Symbol
    ATOX1provided by HGNC
    Official Full Name
    antioxidant 1 copper chaperoneprovided by HGNC
    Primary source
    HGNC:HGNC:798
    See related
    Ensembl:ENSG00000177556 MIM:602270
    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
    ATX1; HAH1
    Summary
    This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 54.4), kidney (RPKM 49.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See ATOX1 in Genome Data Viewer
    Location:
    5q33.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (151742822..151758649, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (151122383..151138210, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene secreted protein acidic and cysteine rich Neighboring gene colorectal liver metastasis associated transcript 3 Neighboring gene RN7SK pseudogene 232 Neighboring gene uncharacterized LOC105378235 Neighboring gene uncharacterized LOC100652758 Neighboring gene Sharpr-MPRA regulatory region 5918 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 6 Neighboring gene G3BP stress granule assembly factor 1

    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 FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of ATX1 antioxidant protein 1 homolog (ATOX1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Antimicrobial peptides, organism-specific biosystem (from REACTOME)
      Antimicrobial peptides, organism-specific biosystemAntimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum of antimicrobial activity against bacteria, viruses, and fungi (Zasloff M 2002; Radek K & Gallo R 2007). The majo...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • Copper homeostasis, organism-specific biosystem (from WikiPathways)
      Copper homeostasis, organism-specific biosystemCopper is a redox-active transition metal and an essential trace element for life. It is a catalytic cofactor for numerous enzymes involved in critical biological processes (eg. detoxyfication by oxy...
    • Detoxification of Reactive Oxygen Species, organism-specific biosystem (from REACTOME)
      Detoxification of Reactive Oxygen Species, organism-specific biosystemReactive oxygen species such as superoxide (O2.-), peroxides (ROOR), singlet oxygen, peroxynitrite (ONOO-), and hydroxyl radical (OH.) are generated by cellular processes such as respiration (reviewe...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Ion influx/efflux at host-pathogen interface, organism-specific biosystem (from REACTOME)
      Ion influx/efflux at host-pathogen interface, organism-specific biosystemEssential metal ions act as co-factors that enable enzymes to catalyse a wider range of chemical transformations than would be achievable using solely organic catalysts. The precise metal requirement...
    • Mineral absorption, organism-specific biosystem (from KEGG)
      Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Mineral absorption, conserved biosystem (from KEGG)
      Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC138453, MGC138455

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    copper chaperone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    copper chaperone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metallochaperone activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular copper ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    copper ion export IEA
    Inferred from Electronic Annotation
    more info
     
    copper ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    copper transport protein ATOX1
    Names
    ATX1 antioxidant protein 1 homolog
    metal transport protein ATX1
    NP_004036.1

    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_004045.4NP_004036.1  copper transport protein ATOX1

      See identical proteins and their annotated locations for NP_004036.1

      Status: REVIEWED

      Source sequence(s)
      BI599233, CN280769
      Consensus CDS
      CCDS47317.1
      UniProtKB/Swiss-Prot
      O00244
      Related
      ENSP00000316854.6, ENST00000313115.11
      Conserved Domains (1) summary
      cd00371
      Location:563
      HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      151742822..151758631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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