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InnateDB Protein
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IDBP-375384.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CHD6
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Protein Name
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chromodomain helicase DNA binding protein 6
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000392503
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InnateDB Gene
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IDBG-75446 (CHD6)
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Protein Structure
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| Function |
Probable chromatin-remodeling protein with a DNA- dependent ATPase activity. May play a role in transcription regulation, activating for instance, the transcription of specific genes in response to oxidative stress through interaction with NFE2L2. {ECO:0000269PubMed:16314513}.
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| Subcellular Localization |
Nucleus, nucleoplasm {ECO:0000269PubMed:17027977}. Note=Enriched at sites of mRNA synthesis.
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| Disease Associations |
Note=A chromosomal aberration disrupting CHD6 has been found in a patient with mild to moderate mental retardation and minor facial anomalies. Translocation t(18;20)(q21.1;q11.2) with TCF4 producing a CHD6-TCF4 fusion transcript (PubMed:18627065). {ECO:0000269PubMed:18627065}.
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| Tissue Specificity |
Widely expressed.
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| Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
| Experimentally validated |
| Total |
10
[view]
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| Protein-Protein |
10
[view]
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| Protein-DNA |
0
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| Protein-RNA |
0
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| DNA-DNA |
0
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| RNA-RNA |
0
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| DNA-RNA |
0
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| PDB ID |
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| InterPro |
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| PFAM |
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| PRINTS |
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| PIRSF |
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| SMART |
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| TIGRFAMs |
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| Modification |
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| SwissProt |
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| PhosphoSite |
PhosphoSite-Q8TD26
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| TrEMBL |
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| UniProt Splice Variant |
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| Entrez Gene |
84181
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| UniGene |
Hs.741381
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| RefSeq |
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| HUGO |
HGNC:19057
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| OMIM |
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| CCDS |
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| HPRD |
13049
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| IMGT |
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| EMBL |
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| GenPept |
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Version 5.4