CREB-Binding Protein

Alternative Names

  • CREBBP
  • CBP
  • CBP/MOZ Fusion Gene

Associated Diseases

Rubinstein-Taybi Syndrome 1
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OMIM Number

600140

NCBI Gene ID

1387

Uniprot ID

Q92793

Length

155,674 bases

No. of Exons

33

No. of isoforms

2

Protein Name

CREB-binding protein

Molecular Mass

265351 Da

Amino Acid Count

2442

Genomic Location

chr16:3,725,053-3,880,726

Gene Map Locus
16p13.3

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000016.10:g.3828398_5219398delUnited Arab EmiratesNC_000016.10:g.3828398_5219398delLikely PathogenicRubinstein-Taybi Syndrome 1
NM_001079846.1:c.685C>TUnited Arab EmiratesNC_000016.10:g.3850410G>ALikely PathogenicRubinstein-Taybi Syndrome 1NG_009873.2:g.35304C>T; NM_001079846.1:c.685C>T; NP_001073315.1:p.Pro229Ser771371997
NM_004380.3:c.2204delSaudi ArabiaNC_000016.10:g.3774649delPathogenicRubinstein-Taybi Syndrome 1NG_009873.1:g.110473del; NM_004380.3:c.2204del; NP_004371.2:p.Pro735HisfsTer13
NM_004380.3:c.4890+2T>CSaudi ArabiaNC_000016.10:g.3731774A>GLikely PathogenicPathogenicRubinstein-Taybi Syndrome 1NG_009873.1:g.153347T>C; NM_004380.3:c.4890+2T>C786205495191065
NM_004380.3:c.881dupSaudi ArabiaNC_000016.10:g.3810698dupPathogenicRubinstein-Taybi Syndrome 1NG_009873.1:g.74424dup; NM_004380.3:c.881dup; NP_004371.2:p.Asn294Lysfs*56
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