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    Atp7a ATPase, Cu++ transporting, alpha polypeptide [ Mus musculus (house mouse) ]

    Gene ID: 11977, updated on 3-Feb-2019

    Summary

    Official Symbol
    Atp7aprovided by MGI
    Official Full Name
    ATPase, Cu++ transporting, alpha polypeptideprovided by MGI
    Primary source
    MGI:MGI:99400
    See related
    Ensembl:ENSMUSG00000033792
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MNK
    Expression
    Broad expression in placenta adult (RPKM 10.0), liver E18 (RPKM 4.8) and 24 other tissues See more
    Orthologs

    Genomic context

    See Atp7a in Genome Data Viewer
    Location:
    X D; X 47.36 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) X NC_000086.7 (106027224..106128160)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (103222615..103323499)

    Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene magnesium transporter 1 Neighboring gene cytochrome c oxidase subunit 7B Neighboring gene toll-like receptor 13 Neighboring gene TM2 domain containing 2 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DXHXS1608e

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    Rac GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    cation-transporting ATPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    chaperone binding ISO
    Inferred from Sequence Orthology
    more info
     
    copper ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    copper ion transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    copper-dependent protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    copper-exporting ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    copper-exporting ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper-transporting ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cuprous ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    superoxide dismutase copper chaperone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    T-helper cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood vessel remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    catecholamine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cation transport IEA
    Inferred from Electronic Annotation
    more info
     
    cellular copper ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular copper ion homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cellular copper ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular copper ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to amino acid stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to copper ion ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to platelet-derived growth factor stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    central nervous system neuron development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cerebellar Purkinje cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    copper ion export IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    copper ion export IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    copper ion export ISO
    Inferred from Sequence Orthology
    more info
     
    copper ion import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    copper ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    copper ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    dendrite morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    detoxification of copper ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dopamine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    elastic fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    elastin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epinephrine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    extracellular matrix organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hair follicle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hindlimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
     
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lung alveolus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metal ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of catalytic activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of iron ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron projection morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    norepinephrine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    norepinephrine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-lysine modification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of catalytic activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cell size ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of epithelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of lamellipodium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of oxidoreductase activity ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of response to wounding ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of vascular associated smooth muscle cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    pyramidal neuron development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cytochrome-c oxidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of oxidative phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    removal of superoxide radicals IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to copper ion ISO
    Inferred from Sequence Orthology
    more info
     
    response to manganese ion ISO
    Inferred from Sequence Orthology
    more info
     
    serotonin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tryptophan metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tyrosine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    brush border membrane ISO
    Inferred from Sequence Orthology
    more info
     
    cell leading edge ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane ISO
    Inferred from Sequence Orthology
    more info
     
    late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft ISO
    Inferred from Sequence Orthology
    more info
     
    microvillus ISO
    Inferred from Sequence Orthology
    more info
     
    neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    perikaryon ISO
    Inferred from Sequence Orthology
    more info
     
    perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    secretory granule ISO
    Inferred from Sequence Orthology
    more info
     
    trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
     
    trans-Golgi network transport vesicle ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    copper-transporting ATPase 1
    Names
    Menkes protein
    copper pump 1
    menkes disease-associated protein homolog
    NP_001103227.1
    NP_033856.3

    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_001109757.2NP_001103227.1  copper-transporting ATPase 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL672288
      Consensus CDS
      CCDS53169.1
      UniProtKB/TrEMBL
      A2AG68
      Related
      ENSMUSP00000058840.6, ENSMUST00000055941.6
      Conserved Domains (4) 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 ...
      TIGR01511
      Location:7191381
      ATPase-IB1_Cu; copper-(or silver)-translocating P-type ATPase
      pfam00122
      Location:7781025
      E1-E2_ATPase; E1-E2 ATPase
      cl21460
      Location:11901333
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    2. NM_009726.5NP_033856.3  copper-transporting ATPase 1 isoform 2

      See identical proteins and their annotated locations for NP_033856.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      AL672288
      Consensus CDS
      CCDS41097.1
      UniProtKB/Swiss-Prot
      Q64430
      Related
      ENSMUSP00000109186.1, ENSMUST00000113557.7
      Conserved Domains (4) 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 ...
      TIGR01511
      Location:7181380
      ATPase-IB1_Cu; copper-(or silver)-translocating P-type ATPase
      pfam00122
      Location:7771024
      E1-E2_ATPase; E1-E2 ATPase
      cl21460
      Location:11891332
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000086.7 Reference GRCm38.p4 C57BL/6J

      Range
      106027224..106128160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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