InnateDB Protein
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IDBP-75452.7
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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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ENSP00000362319
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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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Molecular Function |
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Biological Process |
GO:0006200
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ATP catabolic process
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GO:0006351
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transcription, DNA-templated
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GO:0016568
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chromatin modification
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GO:0036091
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positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress
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Cellular Component |
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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 |
Q8TD26
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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 |
AB037756
AF525085
AK026022
AL031667
AL031669
AL121674
AY034072
BC021907
BC039860
BC040016
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GenPept |
AAH21907
AAK56405
AAN59903
BAA92573
BAB15325
CAI21743
CAI21744
CAI21745
CAI22254
CAI22255
CAI22256
CAI42977
CAI42981
CAI42983
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