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ZIRC
ZFIN ID: ZDB-GENE-030131-9529
Gene Name: ATPase H+ transporting V1 subunit Ab
Gene Symbol: atp6v1ab    Nomenclature History

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Previous Names: atp6v1a, im:7154831, wu:fj85a05

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 24 Mapping Details/Browsers
Description: Predicted to have proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in ATP metabolic process and proton transmembrane transport. Predicted to localize to the apical plasma membrane and vacuolar membrane. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IID. Is expressed in several structures, including integument ionocyte; lateral line ganglion; neural crest; yolk; and yolk syncytial layer. Orthologous to human ATP6V1A (ATPase H+ transporting V1 subunit A).
Genome Resources: Alliance (1),  Gene:337583 (1),  Ensembl(GRCz11):ENSDARG00000076318 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa24491 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH atp6v1ab 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 atp6v1ab VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process ATP metabolic process (more)
    Cellular Component apical plasma membrane (more)
    Molecular Function ATP binding (more)
    GO Terms (all 8)
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA atp6v1ab-201 (1)    Ensembl 2555
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM atp6v1ab No data available
    MARKER RELATIONSHIPS
    atp6v1ab Contained in: [BAC] CH73-93K15 (1) (order this)
    atp6v1ab Encodes: [EST] fj85a05, IMAGE:7154831 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_002666640 (1) 2518 bp
    Genomic GenBank:CU929332 (1) 74139 bp
    Select Tool
    Polypeptide UniProtKB:E7FCD8 (1) 617 aa
    Sequence Clusters UniGene:120534 (1)
    Sequence Information (all 15)
    ORTHOLOGY for atp6v1ab ( Chr: 24 )
    CITATIONS (25)