Research
General Information
ZIRC
ZFIN ID: ZDB-GENE-040628-2
Gene Name: aprataxin
Gene Symbol: aptx
Previous Name: FHA-HIT (1)
Nomenclature History
GENE EXPRESSION No data available
MUTANTS AND TARGETED KNOCKDOWNS
Mutant lines: 1 genotype
Alleles: sa1297
PHENOTYPE
Phenotype of Human Orthologue OMIM Phenotype ID
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 binding (more)
GO Terms (all 9)
PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR000253 (1)
  • InterPro:IPR001310 (1)
  • InterPro:IPR007087 (1)
  • InterPro:IPR008984 (1)
  • InterPro:IPR011146 (1)
  • InterPro:IPR015880 (1)
  • InterPro:IPR019808 (1)
  • PROSITE:PS00892 (1)
  • PROSITE:PS50157 (1)
  • PROSITE:PS51084 (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
    ANTIBODIES No data available
    CONSTRUCTS WITH SEQUENCES FROM aptx No data available
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    aptx Contained in: [BAC] CH211-149G8 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_214729 (1) 1103 bp
    Genomic GenBank:BX004781 (1) 169991 bp
    Select Tool
    Polypeptide UniProtKB:B8A444 (1) 324 aa
    Sequence Clusters UniGene:90868 (1)
    Sequence Information (all 12)
    OTHER aptx GENE PAGES
  • Gene:405797 (1)
  • VEGA:OTTDARG00000019452 (1)
  • Ensembl(Zv9):ENSDARG00000027143 (1)
  • MAPPING INFORMATION
    Chr: 1 Details
    ORTHOLOGY
      Evidence
    Species Symbol Chromosome (Position) Accession # AA CL
    Zebrafish aptx 1  
    Human APTX 9 (9p13.3)
  • OMIM:606350
  • Gene:54840
  • CITATIONS (13)