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FLASH GENE
Symbol AP5Z1 contributors: shn/ mct - updated : 02-08-2010
HGNC name adaptor-related protein complex 5, zeta 1 subunit
HGNC id 22197
DNA
TYPE functioning gene
STRUCTURE 16.13 kb     17 Exon(s)
MAPPING cloned Y linked N status confirmed
Map pter - D7S2445 - D7S511 - KIAA0415 - D7S2478 - D7S2201 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 2890 - 807 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion lymph
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • potential SF2 helicase motifs
  • a helicase-like domain
  • HOMOLOGY
    interspecies ortholog to Kiaa0415, Rattus norvegicus
    ortholog to Kiaa0415, Mus musculus
    Homologene
    FAMILY
  • fold family "P-loop containing nucleoside triphosphate hydrolases"
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • a putative helicase associated with hereditary spastic paraplegia (Slabicki 2010)
  • a putative SF2 helicase required for efficient homologous recombination-mediated double strand break repair (Slabicki et al, 2010)
  • CELLULAR PROCESS nucleotide, repair
    PHYSIOLOGICAL PROCESS
    text DNA repair
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SPG11, SPG15, DKFZp761E198 and C20orf29 (Slabicki 2010)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG48
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS