1. Gene
  2. CHD5 - chromodomain helicase DNA binding protein 5 Gene

CHD5 - chromodomain helicase DNA binding protein 5 Gene

Homo sapiens

Also known as CHD-5; PMNDS

Gene ID: 26038 | Gene type: protein coding

About CHD5

Cytogenetic location: 1p36.31 Genomic coordinates (GRCh38): 1:6,101,787-6,180,321 (from NCBI)

This gene has 6 transcripts (splice variants), 171 orthologues, 30 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 14.5), testis (RPKM 9.9) and 1 other tissue.

Summary

This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]

CHD5 Products(1)

mRNA Protein Name
NM_015557.3 NP_056372.1 chromodomain-helicase-DNA-binding protein 5
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables H3K27me3 modified histone binding IDA
IDA: Inferred from direct assay
23948251 GOA
Biological Process GO Annotation Evidence Reference Source
involved in chromatin remodeling IMP
IMP: Inferred from mutant phenotype
23948251 GOA
involved in regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
23948251 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
21931736 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

CHD5 Protein Structure

CHDNT

CHDNT: CHDNT (NUC034) domain (146 - 200)

PHD

PHD: PHD-finger (345 - 389)

PHD

PHD: PHD-finger (418 - 462)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (508 - 531)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (594 - 628)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (703 - 999)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (1059 - 1138)

DUF1087

DUF1087: Domain of Unknown Function (DUF1087) (1297 - 1359)

DUF1086

DUF1086: Domain of Unknown Function (DUF1086) (1389 - 1529)

CHDCT2

CHDCT2: CHDCT2 (NUC038) domain (1731 - 1903)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 1954 a.a.
Protein Preferred Names Protein Names

chromodomain-helicase-DNA-binding protein 5

ATP-dependent helicase CHD5

Related Diseases

Diseases Alias
Parenti-Mignot Neurodevelopmental Syndrome

PMNDS

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

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
Bos taurus CHD5 VGNC VGNC:59327
Macaca mulatta CHD5 VGNC VGNC:70959
Rattus norvegicus CHD5 RGD RGD:1582725
Mus musculus CHD5 MGD MGI:3036258
Felis catus CHD5 VGNC VGNC:60846
Canis familiaris CHD5 VGNC VGNC:39203