CHD3 - chromodomain helicase DNA binding protein 3 Gene

Also Known as ZFH; Mi-2a; SNIBCPS; Mi2-ALPHA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1107

About CHD3

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,884,796-7,912,755 (from NCBI)

This gene has 23 transcripts (splice variants), 201 orthologues, 30 paralogues and is associated with 2 phenotypes. Ubiquitous expression in prostate (RPKM 26.5), brain (RPKM 24.4) and 24 other tissues.

Summary

This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

CHD3 Products (3)

mRNA Protein Name
NM_001005271.3 NP_001005271.2 chromodomain-helicase-DNA-binding protein 3 isoform 3
NM_001005273.3 NP_001005273.1 chromodomain-helicase-DNA-binding protein 3 isoform 1
NM_005852.4 NP_005843.2 chromodomain-helicase-DNA-binding protein 3 isoform 2
Molecular Function GO Annotation Evidence Références Source
enables ATP hydrolysis activity IDA
IDA: Inferred from direct assay
28977666 GOA
enables ATP-dependent chromatin remodeler activity IDA
IDA: Inferred from direct assay
28977666 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9804427 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
27068747 GOA
Biological Process GO Annotation Evidence Références Source
involved in centrosome cycle IDA
IDA: Inferred from direct assay
17626165 GOA
involved in chromatin remodeling IDA
IDA: Inferred from direct assay
9790534 GOA
involved in chromatin remodeling IMP
IMP: Inferred from mutant phenotype
30397230 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
27068747 GOA
involved in spindle organization IDA
IDA: Inferred from direct assay
17626165 GOA
Cellular Component GO Annotation Evidence Références Source
part of NuRD complex IDA
IDA: Inferred from direct assay
17827154 GOA
part of NuRD complex IPI
IPI: Inferred from physical interaction
27068747 GOA
located in PML body IDA
IDA: Inferred from direct assay
27068747 GOA
located in centrosome IDA
IDA: Inferred from direct assay
17626165 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
17626165 GOA
located in nucleus IDA
IDA: Inferred from direct assay
22720776 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

CHD3 Protein Structure

CHDNT

CHDNT: CHDNT (NUC034) domain (147 - 201)

PHD

PHD: PHD-finger (381 - 425)

PHD

PHD: PHD-finger (458 - 502)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (547 - 570)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (632 - 681)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (739 - 1035)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (1095 - 1174)

DUF1087

DUF1087: Domain of Unknown Function (DUF1087) (1295 - 1357)

DUF1086

DUF1086: Domain of Unknown Function (DUF1086) (1378 - 1517)

CHDCT2

CHDCT2: CHDCT2 (NUC038) domain (1735 - 1907)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000 a.a.
Protein Preferred Names Protein Names

chromodomain-helicase-DNA-binding protein 3

  • ATP-dependent helicase CHD3

CHD3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
CHD3 Q12873 DDX5 Homo sapiens P17844 20676135
Intra
CHD3 Q12873 HTT Homo sapiens P42858
Y2H
15383276
Intra
CHD3 Q12873 HTT Homo sapiens P42858 15383276
Intra
CHD3 Q12873 GIT1 Homo sapiens Q9Y2X7 15383276
Intra
CHD3 Q12873 GIT1 Homo sapiens Q9Y2X7
Y2H
15383276
Intra
CHD3 Q12873 SUMO2 Homo sapiens P61956
Y2H
15383276
Intra
CHD3 Q12873 PRPF40A Homo sapiens O75400
Y2H
15383276
Intra
CHD3 Q12873 PRPF40A Homo sapiens O75400 15383276
Intra
CHD3 Q12873 SERBP1 Homo sapiens Q8NC51
Y2H
12505151
Cross: Cross-species interaction Intra: Intraspecies interaction

CHD3 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P81264 CHD3 Antibody (YA944) WB, ICC/IF, IP Human, Mouse, Rat
HY-P81264A CHD3 Antibody (YA945) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
Snijders Blok-Campeau Syndrome
  • SNIBCPS

  • Intellectual Developmental Disorder With Macrocephaly, Speech Delay, And Dysmorphic Facies

  • Iddmsf

  • Chd3-Related Developmental Delay-Speech Delay-Intellectual Disability-Abnormalities Of Vision-Facial Dysmorphism Syndrome

Dermatomyositis
  • Amyopathic Dermatomyositis

  • Dermatopolymyositis

  • Adult Dermatomyositis

  • Polymyositis With Skin Involvement

  • Adult Type Dermatomyositis

  • Petges-Clejat Syndrome

Stuttering
  • Stammering

  • Familial Persistent Stuttering

  • Stuttering, Familial Persistent 1

Hutchinson-Gilford Progeria Syndrome
  • Progeria

  • HGPS

  • Hutchinson-Gilford Syndrome

  • Hutchinson-Gilford Progeria

  • Hutchinson Gilford Syndrome

  • Hutchinson Gilford Progeria Syndrome

  • Hutchinson-Gilford Disease

  • Progeria Of Childhood

  • Hutchinson-Gilford-Progeria Syndrome

Apraxia
  • Apraxias

  • Dyspraxia

Myasthenic Syndrome, Congenital, 1a, Slow-Channel
  • Congenital Myasthenic Syndrome 1a

  • Congenital Myasthenic Syndrome 2a

  • CMS1A

  • Cms Iia

  • Congenital Myasthenic Syndrome Type Iia

  • Cms2a

  • Myasthenic Syndrome, Congenital, Type Iia, Formerly

  • Cms2a, Formerly

  • Cms Iia, Formerly

  • Congenital Myasthenic Syndrome 1a, Slow-Channel

  • Congenital Myasthenic Syndrome 2a Slow-Channel

  • Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel

  • Myasthenic Syndrome, Congenital, Slow-Channel

  • Sccms

  • Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel

  • Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel

  • Myasthenic Syndromes, Congenital, Slow Channel

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

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

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

Orthologs Information

Species Symbol Source ID
Canis familiaris CHD3 VGNC VGNC:39201
Mus musculus CHD3 MGD MGI:1344395
Rattus norvegicus CHD3 RGD RGD:1311923
Felis catus CHD3 VGNC VGNC:60845
Bos taurus CHD3 VGNC VGNC:27279
Others CHD3 NCBI