CHD1 - chromodomain helicase DNA binding protein 1 Gene

中文名称：染色质域解旋酶 DNA 结合蛋白 1

种属: Homo sapiens

同用名: CHD-1; PILBOS

基因 ID: 1105 | 基因类型: protein coding

关于 CHD1

Cytogenetic location: 5q15-q21.1 Genomic coordinates (GRCh38): 5:98,853,985-98,929,007 (from NCBI)

This gene has 13 transcripts (splice variants), 206 orthologues, 30 paralogues and is associated with 3 phenotypes. Broad expression in bone marrow (RPKM 30.4), appendix (RPKM 9.5) and 23 other tissues.

功能概要

CHD 蛋白质家族的特征在于存在染色质 (染色质组织修饰剂) 结构域和 SNF2 相关解旋酶/ATP 酶结构域。 CHD 基因可能通过染色质结构的修饰来改变基因表达，从而改变转录装置对其染色体 DNA 模板的访问。[RefSeq 提供，2008 年 7 月]

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]

CHD1 基因产物(3)

mRNA	Protein	Name
NM_001270.4	NP_001261.2	chromodomain-helicase-DNA-binding protein 1 isoform 2
NM_001364113.3	NP_001351042.1	chromodomain-helicase-DNA-binding protein 1 isoform 1
NM_001376194.2	NP_001363123.1	chromodomain-helicase-DNA-binding protein 1 isoform 2

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables methylated histone binding	IDA IDA: 通过直接分析推断	21029866	GOA
enables methylated histone binding	IMP IMP: 通过突变表型推断	28866611	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	22419161	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in chromatin remodeling	IMP IMP: 通过突变表型推断	28866611	GOA
involved in positive regulation by host of viral transcription	IMP IMP: 通过突变表型推断	25297984	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	22046413	GOA
is active in nuclear chromosome	IDA IDA: 通过直接分析推断	9326634	GOA
located in nucleus	IDA IDA: 通过直接分析推断	22046413	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CHD1 蛋白结构

Chromo

SNF2_N

Helicase_C

DUF4208

0
300
600
900
1200
1500
1710 a.a.

蛋白主名

其他名称

chromodomain-helicase-DNA-binding protein 1

ATP-dependent helicase CHD1

CHD1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	CHD1	O14646	KDM1A	Homo sapiens	O60341-1	GMS	26751641

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Pilarowski-Bjornsson Syndrome

PILBOS	Developmental Delay And Speech Apraxia With Or Without Seizures
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome

Schizophrenia 8

SCZD8	Schizophrenia Susceptibility Locus, Chromosome 18-Related
Schizophrenia 8 With Or Without An Affective Disorder

Apraxia

Apraxias

Dyspraxia

Pancreatic Cancer

Pancreatic Carcinoma	Carcinoma Of Pancreas
Familial Pancreatic Carcinoma	Pancreatic Neoplasm
Pancreatic Carcinoma, Familial	Malignant Neoplasm Of Pancreas
Pancreatic Acinar Carcinoma	Pancreatic Tumor
Familial Pancreatic Cancer	Neoplasm Of The Pancreas
Cancer Of The Pancreas	Pancreatic Carcinoma, Somatic
Pancreatic Cancer, Somatic	Ca Body Of Pancreas
Ca Head Of Pancreas	Ca Tail Of Pancreas
Malignant Neoplasm Of Body Of Pancreas	Malignant Neoplasm Of Head Of Pancreas
Malignant Neoplasm Of Tail Of Pancreas	Pancreas Neoplasm
Exocrine Cancer	Exocrine Pancreas Carcinoma
Hereditary Pancreatic Cancer	Hereditary Pancreatic Carcinoma
PNCA	Pancreatic Cancer, Susceptibility To
Carcinoma Of Head Of Pancreas	Pancreatic Neoplasms
Pancreatic Tumors	Cancer, Pancreatic
Cancer Of Pancreas	Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Charge Syndrome

Charge Association	Hall-Hittner Syndrome
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies	Hhs
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies	Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
CHARGES

Diffuse Gastric And Lobular Breast Cancer Syndrome

Hereditary Diffuse Gastric Cancer	HDGC
LBC	Familial Diffuse Gastric Cancer
Fdgc	Hereditary Diffuse Gastric Adenocarcinoma
Breast Cancer, Lobular	Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate
DGLBC	Gastric Cancer, Hereditary Diffuse
Gastric Cancer, Familial Diffuse Breast Cancer, Lobular	Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate
E-Cadherin-Associated Hereditary Gastric Cancer	Familial Diffuse Cancer Of Stomach
Hereditary Diffuse Cancer Of Stomach	Gastric Cancer Familial Diffuse
Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate	Cancer, Gastric, Hereditary Diffuse

Primary Hyperoxaluria

Hyperoxaluria	Hyperoxaluria, Primary
Oxalosis	Primary Oxalosis
Congenital Oxaluria	D-Glycerate Dehydrogenase Deficiency
Glyceric Aciduria	Glycolic Aciduria
Hepatic Agt Deficiency	Oxaluria, Primary
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Primary Oxaluria
Hyperoxaluria Primary	Primary Hyperoxaluria Type 2
Primary Hyperoxaluria, Type I

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-144256	CHD1Li 6.11	Inhibitor	99.54%	否
HY-159989	UNC10142	Antagonist	/	否
HY-RS02605	CHD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS02606	CHD1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	CHD1	VGNC	VGNC:71026
Canis familiaris	CHD1	VGNC	VGNC:39199
Mus musculus	CHD1	MGD	MGI:88393
Bos taurus	CHD1	VGNC	VGNC:27276
Felis catus	CHD1	VGNC	VGNC:60842
Rattus norvegicus	CHD1	RGD	RGD:1306794
Others	CHD1	NCBI

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