Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    ATP7A ATPase copper transporting alpha [ Homo sapiens (human) ]

    Gene ID: 538, updated on 6-Jun-2017
    Official Symbol
    ATP7Aprovided by HGNC
    Official Full Name
    ATPase copper transporting alphaprovided by HGNC
    Primary source
    HGNC:HGNC:869
    See related
    Ensembl:ENSG00000165240 MIM:300011; Vega:OTTHUMG00000021885
    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
    MK; MNK; DSMAX; SMAX3
    Summary
    This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
    Orthologs
    Location:
    Xq21.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (77910656..78050395)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (77166194..77305892)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 854, pseudogene Neighboring gene magnesium transporter 1 Neighboring gene cytochrome c oxidase subunit 7B Neighboring gene chromosome 4 open reading frame 46 pseudogene Neighboring gene phosphoglycerate mutase family member 4 Neighboring gene phosphoglycerate kinase 1 Neighboring gene TATA-box binding protein associated factor 9b

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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 channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • 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...
    • Ion transport by P-type ATPases, organism-specific biosystem (from REACTOME)
      Ion transport by P-type ATPases, organism-specific biosystemThe P-type ATPases (E1-E2 ATPases) are a large group of evolutionarily related ion pumps that are found in bacteria, archaea and eukaryotes. They are referred to as P-type ATPases because they catal...
    • 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 ...
    • Platinum drug resistance, organism-specific biosystem (from KEGG)
      Platinum drug resistance, organism-specific biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Platinum drug resistance, conserved biosystem (from KEGG)
      Platinum drug resistance, conserved biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ17790, FLJ39348

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Rac GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    chaperone binding IEA
    Inferred from Electronic Annotation
    more info
     
    copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper ion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    copper-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    copper-exporting ATPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cuprous ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    superoxide dismutase copper chaperone activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    ATP hydrolysis coupled cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    T-helper cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    antimicrobial humoral response TAS
    Traceable Author Statement
    more info
     
    blood vessel development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    blood vessel remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cartilage development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    catecholamine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular copper ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to antibiotic IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to cobalt ion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to copper ion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to iron ion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to lead ion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to platelet-derived growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cerebellar Purkinje cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    copper ion export ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    copper ion import ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    copper ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    detoxification of copper ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dopamine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    elastic fiber assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    elastin biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epinephrine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular matrix organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hair follicle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    lactation IEA
    Inferred from Electronic Annotation
    more info
     
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lung alveolus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrion organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of catalytic activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of iron ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    norepinephrine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peptidyl-lysine modification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pigmentation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane copper ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of catalytic activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell size IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of lamellipodium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of response to wounding IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of vascular associated smooth muscle cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    pyramidal neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cytochrome-c oxidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of oxidative phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    removal of superoxide radicals ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to iron(III) ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to manganese ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    serotonin metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skin development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    tryptophan metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    brush border membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell leading edge IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    secretory granule IEA
    Inferred from Electronic Annotation
    more info
     
    trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trans-Golgi network transport vesicle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    copper-transporting ATPase 1
    Names
    ATPase, Cu++ transporting, alpha polypeptide
    Cu++-transporting P-type ATPase
    Menkes disease-associated protein
    copper pump 1
    NP_000043.4
    NP_001269153.1

    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.

    Genomic

    1. NG_013224.2 RefSeqGene

      Range
      4960..144699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000052.6NP_000043.4  copper-transporting ATPase 1 isoform 1

      See identical proteins and their annotated locations for NP_000043.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB117973, AK299449, AL356235, AL645821, BU753163, DB164588, L06476
      Consensus CDS
      CCDS35339.1
      UniProtKB/Swiss-Prot
      Q04656
      UniProtKB/TrEMBL
      B4DRW0, Q762B6
      Related
      ENSP00000345728.6, OTTHUMP00000023593, ENST00000341514.10, OTTHUMT00000057306
      Conserved Domains (4) summary
      COG2217
      Location:5661389
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      cd00371
      Location:380443
      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 ...
      pfam00122
      Location:7861033
      E1-E2_ATPase; E1-E2 ATPase
      cl21460
      Location:11981341
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    2. NM_001282224.1NP_001269153.1  copper-transporting ATPase 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. This variant is supported by data in PMIDs 7490081 and 10970802.
      Source sequence(s)
      AB117973, AK299449, AL356235, AL645821, BU753163, DB164588, L06476
      Consensus CDS
      CCDS75997.1
      UniProtKB/Swiss-Prot
      Q04656
      UniProtKB/TrEMBL
      B4DRW0, Q762B6
      Related
      ENSP00000343026.5, ENST00000343533.9
      Conserved Domains (4) summary
      COG2217
      Location:5661311
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      cd00371
      Location:380443
      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 ...
      pfam00122
      Location:711955
      E1-E2_ATPase; E1-E2 ATPase
      cl21460
      Location:11201263
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    RNA

    1. NR_104109.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple consecutive internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1. This variant is supported by data in PMID 9693104.
      Source sequence(s)
      AB117973, AK299449, AL356235, AL645821, BU753163, DB164588

    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_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      77910656..78050395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      77058841..77198586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center