CREBBP - CREB binding protein Gene
Also Known as CBP; RSTS; KAT3A; MKHK1; RSTS1
Species: Homo sapiens
About CREBBP
This gene has 20 transcripts (splice variants), 277 orthologues, 1 paralogue and is associated with 181 phenotypes. Ubiquitous expression in testis (RPKM 12.8), bone marrow (RPKM 12.2) and 25 other tissues.
Summary
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]
CREBBP Products (10)
| mRNA | Protein | Name |
|---|---|---|
| NM_001079846.1 | NP_001073315.1 | CREB-binding protein isoform b |
| XM_017022944.2 | XP_016878433.1 | CREB-binding protein isoform X1 |
| XM_011522381.3 | XP_011520683.1 | CREB-binding protein isoform X7 |
| XM_006720848.4 | XP_006720911.1 | CREB-binding protein isoform X5 |
| XM_011522382.4 | XP_011520684.1 | CREB-binding protein isoform X8 |
| XM_005255125.5 | XP_005255182.1 | CREB-binding protein isoform X6 |
| XM_047433624.1 | XP_047289580.1 | CREB-binding protein isoform X3 |
| XM_005255124.5 | XP_005255181.1 | CREB-binding protein isoform X2 |
| NM_004380.3 | NP_004371.2 | CREB-binding protein isoform a |
| XM_047433625.1 | XP_047289581.1 | CREB-binding protein isoform X4 |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in chromatin |
IDA
IDA: Inferred from direct assay
|
21539536 | GOA |
| is active in cytoplasm |
IDA
IDA: Inferred from direct assay
|
35675826 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
12929931 | GOA |
| located in nuclear body |
IDA
IDA: Inferred from direct assay
|
15488321 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
12929931 | GOA |
CREBBP Protein Structure
zf-TAZ: TAZ zinc finger (353 - 432)
KIX: KIX domain (588 - 667)
Bromodomain: Bromodomain (1104 - 1178)
DUF902: Domain of Unknown Function (DUF902) (1191 - 1232)
HAT_KAT11: Histone acetylation protein (1344 - 1639)
ZZ: Zinc finger, ZZ type (1702 - 1742)
zf-TAZ: TAZ zinc finger (1771 - 1843)
Creb_binding: Creb binding (2016 - 2115)
- 0
- 400
- 800
- 1200
- 1600
- 2000
- 2442 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
CREB-binding protein |
|
CREBBP Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
CREBBP | Q92793 | MTDH | Homo sapiens | Q86UE4 | 18316612 | |
|
Intra
|
CREBBP | Q92793 | COPS2 | Homo sapiens | P61201 | 23441852 | |
|
Intra
|
CREBBP | Q92793 | FOXO1 | Homo sapiens | Q12778 | 15220471 | |
|
Intra
|
CREBBP | Q92793 | FOXO3 | Homo sapiens | O43524 | 15126506 | |
|
Intra
|
CREBBP | Q92793 | IRF3 | Homo sapiens | Q14653 | 20581830 | |
|
Intra
|
CREBBP | Q92793 | IRF3 | Homo sapiens | Q14653 | 18309294 | |
|
Intra
|
CREBBP | Q92793 | AKT1 | Homo sapiens | P31749 | 23434580 | |
|
Intra
|
CREBBP | Q92793 | H4C16 | Homo sapiens | P62805 | 24361270 | |
|
Intra
|
CREBBP | Q92793 | H4C16 | Homo sapiens | P62805 | 24361270 | |
|
Intra
|
CREBBP | Q92793 | H4C16 | Homo sapiens | P62805 | 24361270 | |
|
Intra
|
CREBBP | Q92793 | NAP1L1 | Homo sapiens | P55209 | 11940655 | |
|
Intra
|
CREBBP | Q92793 | NAP1L1 | Homo sapiens | P55209 | 11940655 | |
|
Intra
|
CREBBP | Q92793 | TP53 | Homo sapiens | P04637 | 10823891 | |
|
Intra
|
CREBBP | Q92793 | TP53 | Homo sapiens | P04637 | 19805293 | |
|
Intra
|
CREBBP | Q92793 | TP53 | Homo sapiens | P04637 | 10196247 | |
|
Intra
|
CREBBP | Q92793 | TP53 | Homo sapiens | P04637 | 19234109 | |
|
Intra
|
CREBBP | Q92793 | TP53 | Homo sapiens | P04637 | 14759370 | |
|
Intra
|
CREBBP | Q92793 | TP53 | Homo sapiens | P04637 | 9194564 | |
|
Intra
|
CREBBP | Q92793 | TP53 | Homo sapiens | P04637 | 9194564 | |
|
Intra
|
CREBBP | Q92793 | TP53 | Homo sapiens | P04637 | 10196247 | |
|
Intra
|
CREBBP | Q92793 | TBX21 | Homo sapiens | Q9UL17 | 17075044 | |
|
Intra
|
CREBBP | Q92793 | HIF1A | Homo sapiens | Q16665 | 17382325 | |
|
Intra
|
CREBBP | Q92793 | SREBF2 | Homo sapiens | Q12772 | 16799563 | |
|
Intra
|
CREBBP | Q92793 | KAT2B | Homo sapiens | Q92831 | 8684459 | |
|
Intra
|
CREBBP | Q92793 | AR | Homo sapiens | P10275 | 20541699 | |
|
Intra
|
CREBBP | Q92793 | CREB1 | Homo sapiens | P16220 | 16799563 | |
|
Intra
|
CREBBP | Q92793 | RELA | Homo sapiens | Q04206 | 17362989 | |
|
Intra
|
CREBBP | Q92793 | NCOA6 | Homo sapiens | Q14686 | 12482968 | |
|
Intra
|
CREBBP | Q92793 | NCOA6 | Homo sapiens | Q14686 | 10866662 | |
|
Intra
|
CREBBP | Q92793 | SREBF1 | Homo sapiens | P36956-1 | 16799563 | |
|
Intra
|
CREBBP | Q92793 | SREBF1 | Homo sapiens | P36956-3 | 16799563 | |
|
Intra
|
CREBBP | Q92793 | IFNAR2 | Homo sapiens | P48551 | 17923090 | |
|
Cross
|
CREBBP | Q92793 | e1a_ade05 | Human adenovirus C | P03255 | 9018065 | |
|
Cross
|
CREBBP | Q92793 | p03259-2 | Human adenovirus A | P03259-2 | 10722738 |
CREBBP Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P85800 | CREBBP Antibody (YA5492) | WB, ICC/IF, ELISA | Human |
| HY-P86349 | CREBBP Antibody (YA6041) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hematologic Cancer |
|
|
| Squamous Cell Carcinoma |
|
|
| Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag |
|
|
| Kabuki Syndrome 1 |
|
|
| Rasopathy |
|
|
| Menke-Hennekam Syndrome |
|
|
| Acute Myelomonocytic Leukemia |
|
|
| Familial Isolated Trichomegaly |
|
|
| Hair Follicle Neoplasm |
|
|
| Chromosomal Disease |
|
|
| T-Cell Acute Lymphoblastic Leukemia |
|
|
| Scoliosis |
|
|
| Myeloid Leukemia |
|
|
| Male Infertility |
|
|
| Hepatocellular Carcinoma |
|
|
| Plasma Cell Neoplasm |
|
|
| Motor Neuron Disease |
|
|
| Rare Genetic Intellectual Disability |
|
|
| Huntington Disease |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
|
| Squamous Cell Carcinoma, Head And Neck |
|
|
| Retinal Degeneration |
|
|
| Coffin-Siris Syndrome 1 |
|
|
| Skin Melanoma |
|
|
| Leukemia, Acute Myeloid |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Corpus Callosum, Agenesis Of |
|
|
| Atrial Heart Septal Defect |
|
|
| Rubinstein-Taybi Syndrome 1 |
|
|
| Cornelia De Lange Syndrome 2 |
|
|
| Autism |
|
|
| Autosomal Dominant Intellectual Developmental Disorder 31 |
|
|
| Prostate Cancer |
|
|
| Floating-Harbor Syndrome |
|
|
| Pilomatrixoma |
|
|
| Giant Cell Glioblastoma |
|
|
| Hennekam Syndrome |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Menke-Hennekam Syndrome 1 |
|
|
| Acute Leukemia |
|
|
| Machado-Joseph Disease |
|
|
| Bladder Urothelial Carcinoma |
|
|
| High-Grade B-Cell Lymphoma Double-Hit/Triple-Hit |
|
|
| Ezb Diffuse Large B-Cell Lymphoma |
|
|
| Nervous System Disease |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Follicular Lymphoma |
|
|
| Bartholin'S Gland Adenoid Cystic Carcinoma |
|
|
| Acute Myeloid Leukemia With T(8;16)(P11;P13) Translocation |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Congenital Nervous System Abnormality |
|
|
| Meningioma, Familial |
|
|
| Gastric Adenocarcinoma |
|
|
| Otopalatodigital Syndrome Spectrum Disorder |
|
|
| Otopalatodigital Syndrome, Type I |
|
|
| Cervical Cancer |
|
|
| Myelodysplastic Syndrome |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Tethered Spinal Cord Syndrome |
|
|
| Microcephaly |
|
|
| Colorectal Cancer |
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
|
| Basal Cell Carcinoma |
|
|
| Leukemia, Acute Monocytic |
|
|
| Myeloma, Multiple |
|
|
| Glioblastoma |
|
|
| Spasticity |
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
|
| Hypertrichosis |
|
|
| Adenoid Cystic Carcinoma |
|
|
| Bladder Small Cell Carcinoma |
|
|
| Chromosomal Deletion Syndrome |
|
|
| Pectus Carinatum |
|
|
| Leukemia |
|
|
| B-Cell Lymphoma |
|
|
| Chromosome 16p13.3 Duplication Syndrome |
|
|
| Cornelia De Lange Syndrome |
|
|
| Medulloblastoma |
|
|
| Neonatal Leukemia |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
|
| Noonan Syndrome 1 |
|
|
| Gliosarcoma |
|
|
| Lung Squamous Cell Carcinoma |
|
|
| Interatrial Communication |
|
|
| Thumb Deformity |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | CREBBP | VGNC | VGNC:39601 |
| Mus musculus | CREBBP | MGD | MGI:1098280 |
| Felis catus | CREBBP | VGNC | VGNC:61171 |
| Rattus norvegicus | CREBBP | RGD | RGD:2401 |
| Bos taurus | CREBBP | VGNC | VGNC:27698 |
| Macaca mulatta | CREBBP | VGNC | VGNC:71487 |
| Others | CREBBP | NCBI |