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FLASH GENE

Symbol

CHD1

contributors: mct/npt/pgu - updated : 15-01-2013

HGNC name	chromodomain helicase DNA binding protein 1
HGNC id	1915

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q21.1      Physical location : 98.190.908 - 98.262.238
Synonym name	ATP-dependent helicase CHD1
Synonym symbol(s)	DKFZp686E2337, CHD-1
EC.number	3.6.4.12

DNA

TYPE	functioning gene
STRUCTURE	71.33 kb     35 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001270 35 - 6457 NP_001261 196.7 1710 - 2005 16263726

EXPRESSION

Type

widely

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 pharynx       highly Lymphoid/Immune thymus       highly Respiratory respiratory tract larynx     moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a double chromodomain, Snf2-related ATPase domain toward the N terminal, essential for specific binding to a K4 methylated histone H3 (H3 MeK4) peptide and are found to bind cooperatively in the crystal structure , and can bind to histone H3 methylated at lysine 4 and thus might serve to recruit and/or maintain CHD1 at the chromatin
	a region with similarity to the Myb-DNA binding domain, DNA binding domain located at C-terminus, with a crystal structure revealing the presence of structural homology to SLIDE domain
	DNA-binding protein 1 required for coupling ATP hydrolysis to nucleosome sliding

mono polymer

complex

HOMOLOGY

interspecies	homolog to murine Chd 1
	homolog to C.elegans h06001.2

Homologene

FAMILY	CHD family
	SNF2/RAD54 helicase family

CATEGORY

regulatory , DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,chromatin/chromosome
text	released into cytoplasm during mitosis
	functional link between CHD1 and the spliceosome

basic FUNCTION	involved in chromosome organization and biogenesis
	having a helicase activity
	having a hydrolase activity
	ATP-dependent chromatin remodeling protein, directly and selectively recognizing histone H3 methylated on lysine 4
	critical factor for proper development of the follicular epithelium in terms of whole-cell chromatin arrangement
	required for efficient reprogramming of fibroblasts to the pluripotent stem cell state
	essential for open chromatin and pluripotency of embryonic stem cells, and for somatic cell reprogramming to the pluripotent state
	necessary for embryonic stem (ES) cell pluripotency
	distinct CHD1-associated alterations of genomic structure evolve during and are required for the development of Prostate carcinoma
	specific role for CHD1 remodelers in the positioning of nucleosomes in gene coding regions

CELLULAR PROCESS	nucleotide, chromatin organization, remodeling
	nucleotide, transcription, elongation
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of the chromatin remodeling complex
	component of SAGA
	component of SLIK

INTERACTION

DNA

binding

RNA

small molecule	nucleotide,
	ATP

protein	lys-4 methylated histone 3 by its second chromodomain
	binds to methylated H3K4 in a manner that requires both of its tandem chromodomains

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   leads to accumulation of heterochromatin

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS