ZFIN ID: ZDB-GENE-040426-1143
Gene Name: ATPase H+ transporting V1 subunit Aa
Gene Symbol: atp6v1aa    Nomenclature History

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Previous Names: atp6v1al, zgc:63516

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 5 Mapping Details/Browsers
Description: Exhibits proton transmembrane transporter activity. Involved in cellular calcium ion homeostasis; cellular sodium ion homeostasis; and proton transmembrane transport. Predicted to localize to apical plasma membrane and vacuolar membrane. Is expressed in several structures, including extension; hatching gland; integument; ionocyte progenitor cell; and sensory system. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IID and childhood onset epileptic encephalopathy. Orthologous to human ATP6V1A (ATPase H+ transporting V1 subunit A).
Genome Resources: Alliance (1),  Gene:394110 (1),  Ensembl(GRCz11):ENSDARG00000034534 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa20406 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-atp6v1aa N/A 6
    MO2-atp6v1aa N/A 1
    MO3-atp6v1aa N/A 1
    DISEASE ASSOCIATED WITH atp6v1aa HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    autosomal recessive cutis laxa type IID Alliance Cutis laxa, autosomal recessive, type IID 617403
    Epileptic encephalopathy, infantile or early childhood, 3 618012
    DISEASE ASSOCIATED WITH atp6v1aa VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process cellular calcium ion homeostasis (more)
    Cellular Component apical plasma membrane (more)
    Molecular Function proton transmembrane transporter activity (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA atp6v1aa-201 (1)    Ensembl 2609
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM atp6v1aa
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(myo6b:atp6v1aa-EGFP,myl7:EGFP) myl7myo6b atp6v1aaEGFP Danio rerio 1 3
    MARKER RELATIONSHIPS
    atp6v1aa Contained in: [BAC] CH211-137I24 (1)
    atp6v1aa Encodes: [EST] fi81d12
    [cDNA] MGC:63516 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_201135 (1) 2627 nt
    Genomic GenBank:BX119902 (1) 170241 nt
    Select Tool
    Polypeptide UniProtKB:A2BEN1 (1) 617 aa
    Sequence Information (all 11)
    ORTHOLOGY for atp6v1aa ( Chr: 5 )
    CITATIONS (54)