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FLASH GENE
Symbol CHD5 contributors: - updated : 11-06-2007
HGNC name chromodomain helicase DNA binding protein 5
HGNC id 16816
Location 1p36.31      Physical location : 6.161.848 - 6.240.194
Synonym name autoantigen, 218kDa, MI2 related
Synonym symbol(s) KIAA0444, MI2R
EC.number 3.6.1.-
DNA
TYPE functioning gene
STRUCTURE 78.00 kb     42 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
LOC126772 1p36.31 similar to erythrocyte membrane-associated giant protein antigen 332 NPHP4 1p36.22 nephronophthisis 4 LOC388590 1 LOC388590 KCNAB2 1p36.3 potassium voltage-gated channel, shaker-related subfamily, beta member 2 CHD5 1p36.23 chromodomain helicase DNA binding protein 5 RPL22 1p36.3-p36.2 ribosomal protein L22 LOC388591 1 hypothetical gene supported by AK128246 FLJ32096 1p36.23 hypothetical protein FLJ32096 ICMT 1p36.21 isoprenylcysteine carboxyl methyltransferase MGC40168 1p36.23 hypothetical protein MGC40168 LOC390992 1 similar to helix-loop-helix transcription factor GPR153 G protein-coupled receptor 153 BACH 1p36.2 G protein-coupled receptor 153 LOC388592 1 similar to Transcription factor HES-2 (Hairy and enhancer of split 2) ESPN 1p36.31-p36.11 espin TNFRSF25 1p36.2 tumor necrosis factor receptor superfamily, member 25 KIAA0720 1p36.23 tumor necrosis factor receptor superfamily, member 25 FLJ23323 1p36.23 hypothetical protein FLJ23323 TAS1R1 1p36.23 taste receptor, type 1, member 1 HKR3 1p36.31 GLI-Kruppel family member HKR3 KIAA0469 1p36.23 KIAA0469 gene product PHF13 1p36.23 PHD finger protein 13 MGC33488 1p36.23 hypothetical protein MGC33488 FLJ10737 1p36.23 hypothetical protein FLJ10737 CAMTA1 1p36.31-p36.23 calmodulin binding transcription activator 1
regionally located . in a region commonly deleted in neuroblastoma
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivepancreas exocrine   moderately
Endocrineadrenal gland    
Lymphoid/Immunethymus   moderately
Nervousbrainhindbraincerebellum highly
Reproductivemale systemtestis  highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a paired PHD type (C4-H-C3) zinc finger motif
  • two DNA binding chromodomains toward the N terminal
  • a central helicase ATPase related SNF2 domain
  • an helicase C-terminal domain
  • a region with similarity to the Myb-DNA binding domain
  • a DEAH box
    • conjugated HemoP
    HOMOLOGY
    interspecies homolog to chimpanzee CHD5 (98.1 pc)
    homolog to murine Chd5 (94.9 pc)
    homolog to C. elegans chd-3 (55.3 pc)
    intraspecies homolog to CHD3
    homolog to CHD4
    Homologene
    FAMILY
  • CHD family
  • chromodomain SNF2/RAD54 helicase subfamily
    • CATEGORY enzyme , regulatory , DNA associated , transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • may play a role in the development of the nervous system and the pathogenesis of neural tumors
  • acting as an ATP-dependent helicase
    • CELLULAR PROCESS nucleotide, chromatin organization, remodeling
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • nervous system development
    • PATHWAY
    metabolism
    signaling
    a component component of the chromatin remodeling complex
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding, nucleotide,
  • ATP
  • Zn2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in neuroblastoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS