ZFIN ID: ZDB-GENE-040628-2
Gene Name: aprataxin
Gene Symbol: aptx
Previous Name: FHA-HIT (1)
Location: Chr: 1   Details
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 5'-adenosine monophosphate hydrolase activity (more)
GO Terms (all 13)
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)
  • InterPro:IPR026963 (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
    PLASMIDS 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 16)
    OTHER aptx GENE PAGES
  • Gene:405797 (1)
  • VEGA:OTTDARG00000019452 (1)
  • Ensembl(Zv9):ENSDARG00000027143 (1)
  • ORTHOLOGY
      Evidence
    Species Symbol Chr (Position) Accession # AA CL
    Zebrafish aptx 1  
    Human APTX 9 (9p13.3)
  • OMIM:606350
  • Gene:54840
  • Orthology Details
    CITATIONS (14)