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

    Gene ID: 475, updated on 23-Sep-2016
    Official Symbol
    ATOX1provided by HGNC
    Official Full Name
    antioxidant 1 copper chaperoneprovided by HGNC
    Primary source
    HGNC:HGNC:798
    See related
    Ensembl:ENSG00000177556 HPRD:03779; MIM:602270; Vega:OTTHUMG00000163499
    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]
    Orthologs
    Location:
    5q32
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC101927096 Neighboring gene RNA, 7SK small nuclear pseudogene 232 Neighboring gene uncharacterized LOC105378235 Neighboring gene uncharacterized LOC100652758 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 6 Neighboring gene G3BP stress granule assembly factor 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • 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...
    • 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...
    • 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 ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC138453, MGC138455

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    copper chaperone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper ion transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    copper ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    copper ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular copper ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    copper transport protein ATOX1
    Names
    ATX1 antioxidant protein 1 homolog
    metal transport protein ATX1
    NP_004036.1

    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_004045.3NP_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, ENST00000313115
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      151742822..151758649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      150554807..150570651 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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