CHD5 - chromodomain helicase DNA binding protein 5 Gene
Also Known as CHD-5; PMNDS
Species: Homo sapiens
About CHD5
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 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables H3K27me3 modified histone binding |
IDA
IDA: Inferred from direct assay
|
23948251 | GOA |
| Biological Process GO Annotation | Evidence | References | 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 | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
21931736 | GOA |
CHD5 Protein Structure
CHDNT: CHDNT (NUC034) domain (146 - 200)
PHD: PHD-finger (345 - 389)
PHD: PHD-finger (418 - 462)
Chromo: Chromo (CHRromatin Organisation MOdifier) domain (508 - 531)
Chromo: Chromo (CHRromatin Organisation MOdifier) domain (594 - 628)
SNF2_N: SNF2 family N-terminal domain (703 - 999)
Helicase_C: Helicase conserved C-terminal domain (1059 - 1138)
DUF1087: Domain of Unknown Function (DUF1087) (1297 - 1359)
DUF1086: Domain of Unknown Function (DUF1086) (1389 - 1529)
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 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Parenti-Mignot Neurodevelopmental Syndrome |
|
|
| Neuroblastoma |
|
|
| Chromosome 1p36 Deletion Syndrome |
|
|
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 |
| Others | CHD5 | NCBI |