GenTIGS

CREB binding protein (CREBBP) Associated conditions: 1. Glioblastoma 2. Multiple myeloma 3. Rubinstein-Taybi syndrome due to CREBBP mutations

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001079846.1	NP_001073315.1	NC_000016.10	(3725053..3880712, complement)	Reference GRCh38.p14 Primary Assembly	Q92793
2	REVIEWED	NM_004380.3	NP_004371.2	NC_000016.10	(3725053..3880712, complement)	Reference GRCh38.p14 Primary Assembly	Q92793

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1957 reference articles

Variant Information CREB binding protein (CREBBP) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene CREB binding protein (CREBBP)

ClinVar variants:Revealing mutagenic patterns

GO Term of CREB binding protein (CREBBP)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	involved_in	negative regulation of transcription by RNA polymerase II	Process	21539536
2	Homo sapiens	IBA	part_of	histone acetyltransferase complex	Component	21873635
3	Homo sapiens	IDA	part_of	chromatin	Component	21539536
4	Homo sapiens	IPI	enables	transcription coactivator binding	Function	11349124
5	Homo sapiens	TAS	involved_in	response to hypoxia	Process	15261140
6	Homo sapiens	IPI	enables	p53 binding	Function	9194565
7	Homo sapiens	TAS	involved_in	stimulatory C-type lectin receptor signaling pathway	Process	-
8	Homo sapiens	IDA	enables	chromatin binding	Function	24939902
9	Homo sapiens	IDA	enables	damaged DNA binding	Function	24939902
10	Homo sapiens	IBA	enables	transcription coactivator activity	Function	21873635
11	Homo sapiens	IDA	enables	transcription coactivator activity	Function	12169688 12435739 12586840 12929931 14645221
12	Homo sapiens	IPI	enables	transcription coactivator activity	Function	8684459
13	Homo sapiens	TAS	enables	transcription coactivator activity	Function	10362258 11001584
14	Homo sapiens	IDA	enables	transcription corepressor activity	Function	21539536
15	Homo sapiens	IBA	enables	histone acetyltransferase activity	Function	21873635
16	Homo sapiens	IDA	enables	histone acetyltransferase activity	Function	11742995
17	Homo sapiens	TAS	enables	histone acetyltransferase activity	Function	10362258
18	Homo sapiens	IPI	enables	protein binding	Function	8684459 9018065 9194564 9323138 9687513 9811832 9887100 10049825 10196247 10347196 10428834 10722728 10722738 10823891 10866662 11568182 11799127 11897665 11940655 12435739 12482968 14645221 14716005 14759370 15075319 15126506 15220471 15273251 16154084 16291753 16611888 16799563 17075044 17362989 17382325 17500595 17761676 17923090 18250304 18309294 18316612 18836453 19234109 19805293 20541699 20541704 20581830 21483817 21602890 21670263 21751375 21903422 23273993 23434580 23441852 23746807 24207024 24361270 24939902 25314079 25609649 28128295 28680062 28790157 30540930 33640491 33894414 35140242
19	Homo sapiens	IC	located_in	nucleus	Component	12169688
20	Homo sapiens	IDA	located_in	nucleus	Component	12929931 25593309
21	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
22	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
23	Homo sapiens	IBA	part_of	transcription regulator complex	Component	21873635
24	Homo sapiens	IDA	is_active_in	cytoplasm	Component	35675826
25	Homo sapiens	IDA	located_in	cytoplasm	Component	12929931
26	Homo sapiens	TAS	located_in	cytosol	Component	-
27	Homo sapiens	IEA	involved_in	chromatin remodeling	Process	-
28	Homo sapiens	TAS	involved_in	regulation of DNA-templated transcription	Process	15261140
29	Homo sapiens	IDA	involved_in	protein acetylation	Process	15273251 24207024 24939902 28790157
30	Homo sapiens	TAS	involved_in	protein acetylation	Process	28386764
31	Homo sapiens	NAS	involved_in	signal transduction	Process	15261140
32	Homo sapiens	IEA	enables	zinc ion binding	Function	-
33	Homo sapiens	TAS	involved_in	regulation of smoothened signaling pathway	Process	11001584
34	Homo sapiens	EXP	enables	acetyltransferase activity	Function	12456660 16135789
35	Homo sapiens	IDA	enables	acetyltransferase activity	Function	11742995 15273251 24939902
36	Homo sapiens	IDA	involved_in	negative regulation of transcription by RNA polymerase I	Process	30540930
37	Homo sapiens	IBA	involved_in	histone acetylation	Process	21873635
38	Homo sapiens	IDA	located_in	nuclear body	Component	15488321
39	Homo sapiens	IDA	involved_in	N-terminal peptidyl-lysine acetylation	Process	12435739
40	Homo sapiens	IMP	involved_in	positive regulation of transforming growth factor beta receptor signaling pathway	Process	25514493
41	Homo sapiens	IBA	enables	chromatin DNA binding	Function	21873635
42	Homo sapiens	IMP	involved_in	protein destabilization	Process	24939902
43	Homo sapiens	IDA	involved_in	cellular response to nutrient levels	Process	35675826
44	Homo sapiens	TAS	enables	peptide N-acetyltransferase activity	Function	-
45	Homo sapiens	IDA	involved_in	cellular response to UV	Process	24939902
46	Homo sapiens	IDA	involved_in	non-canonical NF-kappaB signal transduction	Process	11742995
47	Homo sapiens	NAS	involved_in	homeostatic process	Process	15261140
48	Homo sapiens	TAS	involved_in	embryonic digit morphogenesis	Process	11001584
49	Homo sapiens	IDA	enables	MRF binding	Function	8621548
50	Homo sapiens	IDA	involved_in	positive regulation of DNA-templated transcription	Process	11742995
51	Homo sapiens	ISS	involved_in	positive regulation of DNA-templated transcription	Process	-
52	Homo sapiens	IBA	involved_in	positive regulation of transcription by RNA polymerase II	Process	21873635
53	Homo sapiens	IDA	involved_in	positive regulation of transcription by RNA polymerase II	Process	12169688
54	Homo sapiens	IEA	involved_in	rhythmic process	Process	-
55	Homo sapiens	IPI	enables	RNA polymerase II-specific DNA-binding transcription factor binding	Function	16043483 21539536
56	Homo sapiens	TAS	enables	RNA polymerase II-specific DNA-binding transcription factor binding	Function	11001584
57	Homo sapiens	EXP	enables	peptide-lysine-N-acetyltransferase activity	Function	34239064
58	Homo sapiens	IDA	enables	peptide-lysine-N-acetyltransferase activity	Function	24207024 28790157 30540930 35675826
59	Homo sapiens	TAS	involved_in	protein-containing complex assembly	Process	7913207
60	Homo sapiens	IPI	enables	DNA-binding transcription factor binding	Function	15509593 15674325
61	Homo sapiens	TAS	involved_in	regulation of cellular response to heat	Process	-
62	Homo sapiens	IDA	involved_in	positive regulation of protein localization to nucleus	Process	35675826