CHD1 - chromodomain helicase DNA binding protein 1 Gene

Also Known as CHD-1; PILBOS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1105

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables methylated histone binding	IDA IDA: Inferred from direct assay	21029866	GOA
enables methylated histone binding	IMP IMP: Inferred from mutant phenotype	28866611	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22419161	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chromatin remodeling	IMP IMP: Inferred from mutant phenotype	28866611	GOA
involved in positive regulation by host of viral transcription	IMP IMP: Inferred from mutant phenotype	25297984	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	22046413	GOA
is active in nuclear chromosome	IDA IDA: Inferred from direct assay	9326634	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22046413	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHD1 Protein Structure

Chromo

SNF2_N

Helicase_C

DUF4208

0
300
600
900
1200
1500
1710 a.a.

Protein Preferred Names	Protein Names
chromodomain-helicase-DNA-binding protein 1	ATP-dependent helicase CHD1

CHD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHD1	O14646	KDM1A	Homo sapiens	O60341-1	GMS	26751641

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-159989	UNC10142	Antagonist	99.74%	Phase 2

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-144256	CHD1Li 6.11		99.54%	Unkown
HY-170565	CHD-1	Inhibitor	/	Unkown
HY-183602	FRC-303	Inhibitor	/	Unkown
HY-183603	FRC-222	Inhibitor	/	Unkown
HY-RS02605	CHD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02606	CHD1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-185041	CHD1L-IN-2		/	Unkown
HY-RS17405	Chd1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17654	Chd1l Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23860	Chd1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24114	Chd1l Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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