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FLASH GENE
Symbol KIAA0415 contributors: shn - updated : 02-08-2010
HGNC name KIAA0415
HGNC id 22197
Corresponding disease
SPG48 spastic paraplegia 48
Location 7p22.1      Physical location : 4.815.263 - 4.831.397
Synonym name hypothetical protein LOC9907
Synonym symbol(s) SPG48
DNA
TYPE functioning gene
STRUCTURE 16.13 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D7S2445 - D7S511 - KIAA0415 - D7S2478 - D7S2201 - cen
Physical map
MLL5 7q22.1 myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) LOC392710 7 LOC392710 LOC221937 7p22.2 forkhead box K1 LOC392711 7 similar to 60S ribosomal protein L35 KCTD7 7q11.21 potassium channel tetramerisation domain containing 7 SRPK2 7q22 SFRS protein kinase 2 KIAA0415 7p22.2 KIAA0415 gene product FLJ10324 7p22 hypothetical protein FLJ10324 RABGEF1 7q11.21 RAB guanine nucleotide exchange factor (GEF) 1 PAPOLB 7p22.2 poly(A) polymerase beta (testis specific) PAQR10 7p22.2 progestin and adipoQ receptor family member X LOC392741 7 LOC392741 LOC392972 7 similar to hypothetical protein LOC392858 7 similar to hypothetical protein FLJ10307 LOC392936 7 similar to ribosomal protein L31 FLJ10099 7q11.22 hypothetical protein FLJ10099 RBAK 7p22.2 hypothetical protein FLJ10099 LOC221937 7p22.2 forkhead box K1 LOC392622 7 hypothetical gene supported by BC031661 SBDS 7q11.21 Shwachman-Bodian-Diamond syndrome FLJ10900 7q11.22 hypothetical protein FLJ10900 FLJ20485 7q22.2 hypothetical protein FLJ20485 LOC392859 7 similar to olfactory receptor MOR267-3 LOC285924 7p22.2 hypothetical protein LOC285924 KIAA0415 7p22.2 KIAA0415 gene product FLJ11785 7q22.2 Rad50-interacting protein 1 FLJ10324 7p22 hypothetical protein FLJ10324 DKFZP434J154 7p22.2 DKFZP434J154 protein LOC392773 7 hypothetical gene supported by M24070; NM_004559 PAPOLB 7p22.2 poly(A) polymerase beta (testis specific) LOC392774 7 similar to KIAA1218 protein SLC29A4 7p22.2 solute carrier family 29 (nucleoside transporters), member 4 PAQR10 7p22.2 progestin and adipoQ receptor family member X KIAA1856 7p22.2 KIAA1856 protein LOC391996 7 similar to hypothetical protein FLJ10307 LOC392712 7 similar to Williams-Beuren syndrome critical region protein 19 LOC392713 7 similar to PMS4 homolog mismatch repair protein - human FLJ13195 7p11.2-q11.2 hypothetical protein FLJ13195 similar to stromal antigen 3 MGC33190 7q22.2 hypothetical protein MGC33190 LOC392623 7 LOC392623 FLJ11467 7p22.2 hypothetical protein FLJ11467 RBAK 7p22.2 hypothetical protein FLJ11467 LOC389458 7 hypothetical gene supported by BC031661 LOC391997 7 similar to olfactory receptor MOR267-3 LOC285924 7p22.2 hypothetical protein LOC285924 ACTB 7p22 actin, beta LOC392860 7 similar to Calgizzarin (S100C protein) (MLN 70)
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