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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 (Chromodomain Helicase DNA Binding Protein 5) is a Protein Coding gene. Diseases associated with CHD5 include Neuroblastoma and Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency. Among its related pathways are Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include hydrolase activity and hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides. An important paralog of this gene is CHD4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003678 | DNA helicase activity | IEA | -- |
GO:0004386 | helicase activity | IEA | -- |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000792 | heterochromatin | ISS | -- |
GO:0005634 | nucleus | IEA,IDA | 21931736 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin Regulation / Acetylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IMP | 23948251 |
GO:0007283 | spermatogenesis | IEA | -- |
GO:0007399 | nervous system development | IEA | -- |
GO:0008285 | negative regulation of cell proliferation | ISS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
ExUns: | 23 | ^ | 24 | ^ | 25a | · | 25b | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41a | · | 41b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CHD5 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CHD5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CHD5 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Chd5 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Chd5 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CHD5 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CHD5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CHD5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CHD5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chd5 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | chd5 30 |
|
||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11169 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012009 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Mi-2 30 31 |
|
ManyToMany | |
Chd3 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | chd-3 31 |
|
ManyToMany | |
let-418 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CHD1 31 |
|
OneToMany | |
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.4332 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8509 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
983057 | Uncertain Significance: Neurodevelopmental disorder | 6,111,775(-) |
G/A NM_015557.3(CHD5):c.5249C>T (p.Thr1750Met) |
MISSENSE | |
rs112316734 | Benign: not provided | 6,152,418(-) |
G/A NM_015557.3(CHD5):c.864C>T (p.Gly288=) |
SYNONYMOUS | |
rs112932753 | Benign: not provided | 6,151,087(-) |
G/C NM_015557.3(CHD5):c.939C>G (p.Ser313=) |
SYNONYMOUS | |
rs115365176 | Benign: not provided | 6,112,153(-) |
G/A NM_015557.3(CHD5):c.5127C>T (p.Asp1709=) |
SYNONYMOUS | |
rs115664978 | Benign: not provided | 6,121,240(-) |
G/A NM_015557.3(CHD5):c.4780-3C>T |
INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv75n54 | CNV | loss | 21841781 |
dgv76n54 | CNV | gain | 21841781 |
esv21998 | CNV | gain | 19812545 |
esv2676924 | CNV | deletion | 23128226 |
esv2739139 | CNV | deletion | 23290073 |
esv2739250 | CNV | deletion | 23290073 |
esv2739361 | CNV | deletion | 23290073 |
esv2739473 | CNV | deletion | 23290073 |
esv2739584 | CNV | deletion | 23290073 |
esv3383496 | CNV | duplication | 20981092 |
nsv1076981 | CNV | deletion | 25765185 |
nsv1115334 | CNV | duplication | 24896259 |
nsv1143431 | CNV | deletion | 24896259 |
nsv1148543 | CNV | duplication | 26484159 |
nsv1149305 | CNV | duplication | 26484159 |
nsv461283 | CNV | loss | 19166990 |
nsv470689 | CNV | loss | 18288195 |
nsv545229 | CNV | loss | 21841781 |
nsv545232 | CNV | gain | 21841781 |
nsv545235 | CNV | loss | 21841781 |
nsv545236 | CNV | loss | 21841781 |
nsv818555 | CNV | loss | 17921354 |
nsv825697 | CNV | gain | 20364138 |
nsv831425 | CNV | loss | 17160897 |
nsv854 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuroblastoma |
|
|
dystonia, dopa-responsive, due to sepiapterin reductase deficiency |
|
|
charge syndrome |
|
|
chromosome 1p36 deletion syndrome |
|
|