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Gene : CREBBP Homo sapiens

Name  ? CREB binding protein Cytological Location  16p13.3
Brief Description  CREB binding protein
Description  This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]
  • synonyms:
  • CBP,
  • U85962,
  • Rubinstein-Taybi syndrome,
  • RSTS,
  • RSTS1,
  • RTS,
  • CREBBP,
  • HGNC:2348,
  • NM_004380,
  • uc002cvv.4,
  • CBP,
  • RSTS,
  • MKHK1,
  • OTTHUMG00000129431,
  • KAT3A,
  • KAT3A
  • identifiers:
  • 1387,
  • ENSG00000005339,
  • CREBBP

Genome feature

Region: gene ? Length: 155674  
Location: 16:3725054-3880727 reverse strand Cyto location: 16p13.3


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Function

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82 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

82 Pathways

78 SN Ps

5 Cross References

19 Data Sets

6 Homologues

9 Located Features

97 Rna Seq Results