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FLASH GENE

Symbol

CHD5

contributors: - updated : 11-06-2007

HGNC name	chromodomain helicase DNA binding protein 5
HGNC id	16816

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

regionally located

. in a region commonly deleted in neuroblastoma

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive pancreas exocrine       moderately Endocrine adrenal gland         Lymphoid/Immune thymus       moderately Nervous brain hindbrain cerebellum   highly Reproductive male system testis     highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in neuroblastoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS