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    Atp7b ATPase, Cu++ transporting, beta polypeptide [ Mus musculus (house mouse) ]

    Gene ID: 11979, updated on 22-Aug-2021

    Summary

    Official Symbol
    Atp7bprovided by MGI
    Official Full Name
    ATPase, Cu++ transporting, beta polypeptideprovided by MGI
    Primary source
    MGI:MGI:103297
    See related
    Ensembl:ENSMUSG00000006567
    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
    At; WN; tx; WND; Atp7a
    Expression
    Broad expression in placenta adult (RPKM 9.8), lung adult (RPKM 9.6) and 16 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Atp7b in Genome Data Viewer
    Location:
    8 A2; 8 10.78 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (22482799..22550632, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (21992783..22060074, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (23104820..23170546, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 29821 Neighboring gene family with sequence similarity 90, member A1A Neighboring gene coiled-coil domain containing 70 Neighboring gene asparagine-linked glycosylation 11 (alpha-1,2-mannosyltransferase) Neighboring gene NIMA (never in mitosis gene a)-related expressed kinase 5 Neighboring gene small nucleolar RNA U13

    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 Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (2) 
    • Targeted (2)  1 citation
    • Chemically induced (ENU) (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATPase-coupled cation transmembrane transporter 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables P-type divalent copper transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables P-type divalent copper transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables P-type monovalent copper transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables copper ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables copper ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables copper ion transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in cation transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular copper ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within cellular copper ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to copper ion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cellular zinc ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in copper ion export IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in copper ion export ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in copper ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in copper ion import IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in copper ion import ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within copper ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within copper ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in copper ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within lactation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein maturation by copper ion transfer IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to copper ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sequestering of calcium ion ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in apical part of cell ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in bicellular tight junction ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    colocalizes_with perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in tight junction ISO
    Inferred from Sequence Orthology
    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 
    colocalizes_with trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
     
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
     
    located_in trans-Golgi network membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    copper-transporting ATPase 2
    Names
    Wilson protein
    copper pump 2
    toxic milk
    wilson disease-associated protein homolog
    NP_031537.2
    XP_006509070.1
    XP_011240421.1

    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.

    mRNA and Protein(s)

    1. NM_007511.2NP_031537.2  copper-transporting ATPase 2

      See identical proteins and their annotated locations for NP_031537.2

      Status: VALIDATED

      Source sequence(s)
      AC163439, AL590619
      Consensus CDS
      CCDS22168.1
      UniProtKB/Swiss-Prot
      Q64446
      Related
      ENSMUSP00000006742.5, ENSMUST00000006742.11
      Conserved Domains (4) summary
      COG2217
      Location:5681352
      ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]
      COG4087
      Location:11871306
      COG4087; Soluble P-type ATPase [General function prediction only]
      cd00371
      Location:156219
      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:7711018
      E1-E2_ATPase; E1-E2 ATPase

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      22482799..22550632 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509007.5XP_006509070.1  copper-transporting ATPase 2 isoform X1

      Conserved Domains (2) summary
      cd00371
      Location:205268
      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:7031400
      P-type_ATPase_Cu-like; P-type heavy metal-transporting ATPase, similar to human copper-transporting ATPases, ATP7A and ATP7B
    2. XM_011242119.4XP_011240421.1  copper-transporting ATPase 2 isoform X2

      Conserved Domains (2) summary
      cd00371
      Location:205268
      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 ...
      cl21460
      Location:703995
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    RNA

    1. XR_378777.5 RNA Sequence

    2. XR_004934752.1 RNA Sequence

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