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

    Gene ID: 538, updated on 8-Jul-2021

    Summary

    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
    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]
    Expression
    Ubiquitous expression in skin (RPKM 5.4), thyroid (RPKM 2.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ATP7A in Genome Data Viewer
    Location:
    Xq21.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (77910693..78050395)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (77166190..77305892)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene magnesium transporter 1 Neighboring gene RNA, 7SL, cytoplasmic 460, pseudogene 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

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ17790, FLJ39348

    Gene Ontology Provided by GOA

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

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4997..144699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000052.7NP_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, ENST00000341514.11
      Conserved Domains (2) summary
      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 ...
      cd02094
      Location:6521388
      P-type_ATPase_Cu-like; P-type heavy metal-transporting ATPase, similar to human copper-transporting ATPases, ATP7A and ATP7B
    2. NM_001282224.2NP_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_104109.2 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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      77910693..78050395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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