ZFIN ID: ZDB-GENE-060825-45
Gene Name: ATPase copper transporting alpha
Gene Symbol: atp7a    Nomenclature History

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Previous Names: cal, calamity, wu:fc43e01, zgc:153422, zgc:158633

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 14 Mapping Details/Browsers
Description: Predicted to have copper transmembrane transporter activity, phosphorylative mechanism. Involved in response to copper ion. Predicted to localize to perinuclear region of cytoplasm and trans-Golgi network. Is expressed in digestive system; gill; locus coeruleus; neural tube; and notochord. Used to study Menkes disease. Human ortholog(s) of this gene implicated in Menkes disease; X-linked distal spinal muscular atrophy 3; cutis laxa; and occipital horn syndrome. Orthologous to human ATP7A (ATPase copper transporting alpha).
Genome Resources: Alliance (1),  Gene:564924 (1),  Ensembl(GRCz11):ENSDARG00000003699 (2)
GENE EXPRESSION
All Expression Data: 10 figures from 7 publications
Wild-type Stages, Structures: Blastula:1k-cell (3.0h-3.33h) to Adult (90d-730d, breeding adult)
 
High Throughput Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
gw71 Point Mutation Unknown Missense ENU
hza4 Small Deletion Unknown Unknown CRISPR
j246 Small Deletion Unknown Splice Site, Inframe Deletion ENU
sa17337 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa22467 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa35686 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa35687 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa38992 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa42389 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • vu69 Point Mutation Intron 8 Cryptic Acceptor Splice Site, Frameshift, Premature Stop ENU
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-atp7a 1
    MO1-atp7a N/A 2
    MO2-atp7a N/A 2
    MO3-atp7a N/A 2
    DISEASE ASSOCIATED WITH atp7a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Menkes disease Alliance Menkes disease 309400
    occipital horn syndrome Alliance Occipital horn syndrome 304150
    X-linked distal spinal muscular atrophy 3 Alliance Spinal muscular atrophy, distal, X-linked 3 300489
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process response to copper ion (more)
    Cellular Component integral component of membrane (more)
    Molecular Function ATPase-coupled cation transmembrane transporter activity (more)
    GO Terms (all 16)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA atp7a-201 (1)    Ensembl 7709
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-atp7a polyclonal Rabbit WB 2
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM atp7a No data available
    MARKER RELATIONSHIPS
    atp7a Contained in: [BAC] CH211-107M4 (1), CH211-215G18 (1), DKEY-179C7 (1) (order this)
    atp7a Encodes: [EST] fc43e01 (1)
    [cDNA] MGC:153422 (1), MGC:158633 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001042720 (1) 4449 nt
    Genomic GenBank:BX120008 (1) 221928 nt Blast at MegaBLAST
    Polypeptide UniProtKB:F1Q5B3 (1) 1500 aa
    Sequence Information (all 27)
    ORTHOLOGY for atp7a ( Chr: 14 )
    CITATIONS (43)