Homo sapiens Protein: CHD5 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-87290.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | CHD5 | ||||||||||||||||||||||
Protein Name | chromodomain helicase DNA binding protein 5 | ||||||||||||||||||||||
Synonyms | CHD-5; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000262450 | ||||||||||||||||||||||
InnateDB Gene | IDBG-87288 (CHD5) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Chromatin-remodeling protein that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated 'Lys-27' (H3K27me3) and non- methylated 'Lys-4' of histone H3. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at 'Lys- 27' thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Tumor suppressor, it regulates the expression of genes involved in cell proliferation and differentiation. Downstream activated genes may include CDKN2A that positively regulates the p53/TP53 pathway, which in turn, prevents cell proliferation. In spermatogenesis, it probably regulates histone hyperacetylation and the replacement of histones by transition proteins in chromatin, a crucial step in the condensation of spermatid chromatin and the production of functional spermatozoa. {ECO:0000269PubMed:23948251}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000269PubMed:21931736, ECO:0000269PubMed:23948251}. Note=Associates with heterochromatin. {ECO:0000250}. | ||||||||||||||||||||||
Disease Associations | Note=Defects in CHD5 may be a cause of the development of cancers from epithelial, neural and hematopoietic origin. CHD5 is one of the missing genes in the del(1p36), a deletion which is extremely common in this type of cancers. A decrease of its expression, results in increased susceptibility of cells to Ras- mediated transformation in vitro and in vivo (PubMed:17289567). {ECO:0000269PubMed:17289567}. | ||||||||||||||||||||||
Tissue Specificity | Preferentially expressed in total brain, fetal brain, and cerebellum. It is also moderately expressed in the adrenal gland and detected in testis. {ECO:0000269PubMed:12592387, ECO:0000269PubMed:21931736}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000330
SNF2-related IPR000953 Chromo domain/shadow IPR001650 Helicase, C-terminal IPR001965 Zinc finger, PHD-type IPR006935 Helicase/UvrB domain IPR009071 High mobility group box domain IPR009462 Domain of unknown function DUF1086 IPR009463 Domain of unknown function DUF1087 IPR011011 Zinc finger, FYVE/PHD-type IPR012957 CHD, C-terminal 2 IPR012958 CHD, N-terminal IPR014001 Helicase, superfamily 1/2, ATP-binding domain IPR016197 Chromo domain-like IPR019787 Zinc finger, PHD-finger IPR023780 Chromo domain IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00176
PF00271 PF04851 PF00505 PF09011 PF06461 PF06465 PF08074 PF08073 PF00628 PF00385 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00298
SM00490 SM00249 SM00398 SM00487 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q8TDI0 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q8TDI0 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 26038 | ||||||||||||||||||||||
UniGene | Hs.618109 | ||||||||||||||||||||||
RefSeq | NP_056372 | ||||||||||||||||||||||
HUGO | HGNC:16816 | ||||||||||||||||||||||
OMIM | 610771 | ||||||||||||||||||||||
CCDS | CCDS57 | ||||||||||||||||||||||
HPRD | 10828 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB007913 AF425231 AL031847 AL035406 AL117491 | ||||||||||||||||||||||
GenPept | AAL98962 BAA32289 CAB55959 CAI19450 CAI19891 | ||||||||||||||||||||||