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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]
[中文简述(自动翻译):]  该基因普遍表达,并参与许多不同的转录因子的转录共激活。首先分离出结合于cAMP反应元件结合蛋白(CREB)的核蛋白,该基因是目前已知由染色质重塑耦合到转录因子的识别来在胚胎发育,生长控制和平衡的关键角色。由该基因编码的蛋白质具有固有的组蛋白乙酰转移酶活性和也用作脚手架以稳定与转录复合额外的蛋白质的相互作用。这种蛋白乙酰化既组蛋白和非组蛋白。这种蛋白共享很高的序列相似性的区域,在其布罗莫蛋白P300,富含半胱氨酸 - 组氨酸区域和组蛋白乙酰转移域。突变这个基因导致鲁宾斯坦 - 泰必氏综合症(RTS)。涉及该基因的染色体易位已与急性骨髓性白血病有关。在多个转录剪接变异体导致编码不同亚型。 [由RefSeq的,2009年2月提供]
CREBBP基因(以及对应的蛋白质)的细胞分布位置:
CREBBP基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Rubinstein-Taybi Syndrome | 0.589289435 | 52 | 74 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
Lymphoma, Follicular | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Prostatic Neoplasms | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Squamous cell carcinoma of esophagus | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Bladder Neoplasm | 0.12 | 1 | 0 | CTD_human |
Carcinoma, Transitional Cell | 0.12 | 1 | 0 | CTD_human |
Adenoid Cystic Carcinoma | 0.12 | 1 | 0 | CTD_human |
Sezary Syndrome | 0.12 | 1 | 0 | CTD_human |
Small cell carcinoma of lung | 0.12 | 1 | 0 | CTD_human |
AMYOTROPHIC LATERAL SCLEROSIS 1 | 0.12 | 1 | 0 | CTD_human |
CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL | 0.12 | 0 | 0 | ORPHANET |
Leukemia, Myelocytic, Acute | 0.090596165 | 29 | 0 | BeFree_LHGDN_MGD |
Attention deficit hyperactivity disorder | 0.08 | 1 | 0 | RGD |
MYELODYSPLASTIC SYNDROME | 0.08 | 0 | 0 | MGD |
leukemia | 0.008977445 | 15 | 0 | BeFree_LHGDN |
Rothmund-Thomson syndrome | 0.008414698 | 31 | 0 | BeFree |
Rett Syndrome | 0.007600372 | 28 | 0 | BeFree |
Bone necrosis | 0.0054487 | 2 | 0 | LHGDN |
Malaria | 0.004614512 | 17 | 0 | BeFree |
Malignant neoplasm of breast | 0.003724241 | 5 | 0 | BeFree_GAD |
Squamous cell carcinoma | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Leukemogenesis | 0.003257302 | 12 | 0 | BeFree |
Lung Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Alzheimer's Disease | 0.002638474 | 2 | 0 | BeFree_GAD |
Femur Head Necrosis | 0.002367032 | 1 | 0 | GAD |
Weight Gain | 0.002367032 | 1 | 0 | GAD |
Spina Bifida | 0.002367032 | 1 | 0 | GAD |
Weight Gain Adverse Event | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of prostate | 0.002171535 | 8 | 0 | BeFree |
Prostate carcinoma | 0.002171535 | 8 | 0 | BeFree |
Carcinogenesis | 0.001628651 | 6 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.001357209 | 5 | 0 | BeFree |
Mental Retardation | 0.001357209 | 5 | 0 | BeFree |
Breast Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Treatment related acute myeloid leukaemia | 0.001357209 | 5 | 0 | BeFree |
Hepatitis B | 0.001085767 | 4 | 0 | BeFree |
Acute lymphocytic leukemia | 0.001085767 | 4 | 0 | BeFree |
Acute leukemia | 0.001085767 | 4 | 0 | BeFree |
Tumor Progression | 0.001085767 | 4 | 0 | BeFree |
Congenital Abnormality | 0.000814326 | 3 | 0 | BeFree |
Malignant tumor of colon | 0.000814326 | 3 | 0 | BeFree |
Developmental Disabilities | 0.000814326 | 3 | 0 | BeFree |
Medulloblastoma | 0.000814326 | 3 | 0 | BeFree |
Neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
Diffuse Large B-Cell Lymphoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of lung | 0.000814326 | 3 | 0 | BeFree |
Impaired cognition | 0.000814326 | 3 | 0 | BeFree |
Hematologic Neoplasms | 0.000814326 | 3 | 0 | BeFree |
Neurodegenerative Disorders | 0.000814326 | 3 | 0 | BeFree |
Carcinoma of lung | 0.000814326 | 3 | 0 | BeFree |
Colon Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Central neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
Amyotrophic Lateral Sclerosis | 0.000542884 | 2 | 0 | BeFree |
Rheumatoid Arthritis | 0.000542884 | 2 | 0 | BeFree |
Asthma | 0.000542884 | 2 | 0 | BeFree |
Autistic Disorder | 0.000542884 | 2 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Congenital Heart Defects | 0.000542884 | 2 | 0 | BeFree |
Acute myelomonocytic leukemia | 0.000542884 | 2 | 0 | BeFree |
Chronic Obstructive Airway Disease | 0.000542884 | 2 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000542884 | 2 | 0 | BeFree |
Multiple Myeloma | 0.000542884 | 2 | 0 | BeFree |
Ovarian Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Virus Diseases | 0.000542884 | 2 | 0 | BeFree |
pediatric acute myeloblastic leukemia | 0.000542884 | 2 | 0 | BeFree |
Memory impairment | 0.000542884 | 2 | 0 | BeFree |
Endometrial Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Floating-harbor syndrome | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
Chromosome 16p13.3 Deletion Syndrome | 0.000542884 | 2 | 0 | BeFree |
Adenovirus Infections | 0.000271442 | 1 | 0 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
Mental disorders | 0.000271442 | 1 | 0 | BeFree |
Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
Blast Phase | 0.000271442 | 1 | 0 | BeFree |
Burkitt Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Candidiasis | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of endometrium | 0.000271442 | 1 | 0 | BeFree |
Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Drug abuse | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Hematological Disease | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000271442 | 1 | 0 | BeFree |
Acute monocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelomonocytic, Chronic | 0.000271442 | 1 | 0 | BeFree |
Leukoencephalopathy, Progressive Multifocal | 0.000271442 | 1 | 0 | BeFree |
Lupus Vulgaris | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Discoid | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
Melanocytic nevus | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Rabies (disorder) | 0.000271442 | 1 | 0 | BeFree |
Septicemia | 0.000271442 | 1 | 0 | BeFree |
Unipolar Depression | 0.000271442 | 1 | 0 | BeFree |
Ataxia, Spinocerebellar | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Sarcoma, Clear Cell | 0.000271442 | 1 | 0 | BeFree |
Premature aging syndrome | 0.000271442 | 1 | 0 | BeFree |
Neonatal leukaemia | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Color blindness | 0.000271442 | 1 | 0 | BeFree |
Panhypopituitarism | 0.000271442 | 1 | 0 | BeFree |
Parasitemia | 0.000271442 | 1 | 0 | BeFree |
Sepsis | 0.000271442 | 1 | 0 | BeFree |
Cornelia De Lange Syndrome | 0.000271442 | 1 | 0 | BeFree |
Senile Plaques | 0.000271442 | 1 | 0 | BeFree |
Maturity onset diabetes mellitus in young | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Poikiloderma | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus | 0.000271442 | 1 | 0 | BeFree |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | 0.000271442 | 1 | 0 | BeFree |
Skeletal dysplasia | 0.000271442 | 1 | 0 | BeFree |
Poorly differentiated carcinoma | 0.000271442 | 1 | 0 | BeFree |
Spinocerebellar Ataxia Type 1 | 0.000271442 | 1 | 0 | BeFree |
Atrophy, Muscular, Spinobulbar | 0.000271442 | 1 | 0 | BeFree |
lupus erythematodes | 0.000271442 | 1 | 0 | BeFree |
Ductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Major Depressive Disorder | 0.000271442 | 1 | 0 | BeFree |
Congenital central hypoventilation | 0.000271442 | 1 | 0 | BeFree |
Therapy-related myelodysplastic syndrome | 0.000271442 | 1 | 0 | BeFree |
M5b Acute differentiated monocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Narrow palate | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Tumor Angiogenesis | 0.000271442 | 1 | 0 | BeFree |
Neurodevelopmental Disorders | 0.000271442 | 1 | 0 | BeFree |
Bulbo-Spinal Atrophy, X-Linked | 0.000271442 | 1 | 0 | BeFree |
Poikiloderma with Neutropenia | 0.000271442 | 1 | 0 | BeFree |
Uterine Corpus Cancer | 0.000271442 | 1 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Hyperdiploid B Acute Lymphoblastic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Promyelocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Treatment related leukaemia | 0.000271442 | 1 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
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