ZFIN ID: ZDB-GENE-040628-2
Gene Name: aprataxin
Gene Symbol: aptx

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Previous Name: FHA-HIT (1)

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(Including Attributions)
Location: Chr: 1 Mapping Details/Browsers
Nomenclature History
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa1297 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH aptx HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    ataxia with oculomotor apraxia type 1 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 208920
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process DNA repair (more)
    Cellular Component nucleolus (more)
    Molecular Function DNA 5'-adenosine monophosphate hydrolase activity (more)
    GO Terms (all 13)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR000253 (1)
  • InterPro:IPR007087 (1)
  • InterPro:IPR008984 (1)
  • InterPro:IPR011146 (1)
  • InterPro:IPR019808 (1)
  • InterPro:IPR026963 (1)
  • InterPro:IPR032566 (1)
  • PROSITE:PS00892 (1)
  • PROSITE:PS50157 (1)
  • PROSITE:PS51084 (1)
  • Pfam:PF00498 (1)
  • Pfam:PF16278 (1)
  • EC:3.-.-.- (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA aptx-001 (1) 1303
    ncRNA aptx-002 (1) 867
    mRNA aptx-003 (1) 797
    GENE PRODUCT DESCRIPTION
    INTERACTIONS AND PATHWAYSNo data available
    ANTIBODIESNo data available
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM aptx No data available
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    aptxContained in: [BAC] CH211-149G8 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_214729 (1) 1103bp
    Genomic GenBank:BX004781 (1) 169991bp
    Select Tool
    Polypeptide UniProtKB:B8A444 (1) 324aa
    Sequence Clusters UniGene:90868 (1)
    Sequence Information (all 16)
    OTHER aptx GENE PAGES
  • Gene:405797 (1)
  • VEGA:OTTDARG00000019452 (1)
  • Ensembl(GRCz10):ENSDARG00000027143 (1)
  • ORTHOLOGY for aptx (Chr: 1)
    Species Symbol Chromosome Accession # Evidence
    Human APTX 9
  • Gene:54840
  • OMIM:606350
  • HGNC:15984
  • Amino acid sequence comparison (1)
    Conserved genome location (synteny) (1)
    Download Curated Orthology
    CITATIONS (14)