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This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis, and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
[中文简述(自动翻译):] 这个基因编码属于该集团电话同源盒家族的转录因子的核蛋白质。在小鼠中的研究表明,该基因可能参与成骨的调节,以及对骨骼肌的图案化和编程所需。染色体易位,叔(1; 19),涉及该基因和TCF3 / E2A基因,与前B细胞急性淋巴细胞性白血病相关联。所得的融合蛋白,其中E2A的DNA结合结构域是由该蛋白质的DNA结合结构域取代,由组成性激活由PBX蛋白家族调节的基因的转录变换细胞。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的,2011年3月提供]
PBX1基因(以及对应的蛋白质)的细胞分布位置:
PBX1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Burkitt Lymphoma | 0.120542884 | 4 | 0 | BeFree_CTD_human |
Substance-Related Disorders | 0.12 | 1 | 0 | CTD_human |
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 | 0.12 | 0 | 0 | ORPHANET |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.016306375 | 41 | 0 | BeFree_LHGDN |
Acute lymphocytic leukemia | 0.013843535 | 51 | 0 | BeFree |
Pituitary Diseases | 0.010043349 | 37 | 0 | BeFree |
leukemia | 0.008967513 | 23 | 0 | BeFree_LHGDN |
Adenoma | 0.008957582 | 33 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.006243163 | 23 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.00554839 | 3 | 0 | BeFree_GAD |
Malignant neoplasm of breast | 0.005428837 | 20 | 0 | BeFree |
Breast Carcinoma | 0.005157396 | 19 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.00434307 | 16 | 0 | BeFree |
Lymphoid leukemia | 0.003538676 | 3 | 0 | BeFree_LHGDN |
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 0.003257302 | 12 | 0 | BeFree |
Pituitary Adenoma | 0.003257302 | 12 | 0 | BeFree |
Diabetes Mellitus | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Pituitary Neoplasms | 0.002985861 | 11 | 0 | BeFree |
Squamous cell carcinoma | 0.00272435 | 1 | 0 | LHGDN |
Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
ovarian neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Osteoporosis | 0.002638474 | 2 | 0 | BeFree_GAD |
Carcinogenesis | 0.002442977 | 9 | 0 | BeFree |
Hypertensive disease | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Prolactinoma | 0.002171535 | 8 | 0 | BeFree |
Hyperprolactinemia | 0.001628651 | 6 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.001628651 | 6 | 0 | BeFree |
Lymphoma | 0.001628651 | 6 | 0 | BeFree |
Neoplasm Metastasis | 0.001628651 | 6 | 0 | BeFree |
Leukemogenesis | 0.001357209 | 5 | 0 | BeFree |
Hypothyroidism, Congenital, Nongoitrous, 4 | 0.001085767 | 4 | 0 | BeFree |
Pre B-cell acute lymphoblastic leukemia | 0.001085767 | 4 | 0 | BeFree |
Secondary hypothyroidism | 0.001085767 | 4 | 0 | BeFree |
Fibroid Tumor | 0.000814326 | 3 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000814326 | 3 | 0 | BeFree |
Lupus Vulgaris | 0.000814326 | 3 | 0 | BeFree |
Lupus Erythematosus, Discoid | 0.000814326 | 3 | 0 | BeFree |
Obesity | 0.000814326 | 3 | 0 | BeFree |
Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Uterine Fibroids | 0.000814326 | 3 | 0 | BeFree |
Acute leukemia | 0.000814326 | 3 | 0 | BeFree |
Galactorrhea not associated with childbirth | 0.000814326 | 3 | 0 | BeFree |
Panhypopituitarism | 0.000814326 | 3 | 0 | BeFree |
Neoplasm, Residual | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000814326 | 3 | 0 | BeFree |
Lupus Erythematosus | 0.000814326 | 3 | 0 | BeFree |
Prostate carcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000814326 | 3 | 0 | BeFree |
Mammary Neoplasms | 0.000814326 | 3 | 0 | BeFree |
Galactorrhea | 0.000814326 | 3 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Dwarfism | 0.000542884 | 2 | 0 | BeFree |
Hypoglycemia | 0.000542884 | 2 | 0 | BeFree |
Myeloid Leukemia | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000542884 | 2 | 0 | BeFree |
Galactorrhea associated with childbirth | 0.000542884 | 2 | 0 | BeFree |
Adrenocorticotropic hormone (ACTH) deficiency (disorder) | 0.000542884 | 2 | 0 | BeFree |
Common acute lymphoblastic leukemia | 0.000542884 | 2 | 0 | BeFree |
Adult Acute Lymphocytic Leukemia | 0.000542884 | 2 | 0 | BeFree |
Mammary Tumorigenesis | 0.000542884 | 2 | 0 | BeFree |
Hyperdiploid B Acute Lymphoblastic Leukemia | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Addison Disease | 0.000271442 | 1 | 0 | BeFree |
Adrenal Gland Diseases | 0.000271442 | 1 | 0 | BeFree |
Adrenal gland hypofunction | 0.000271442 | 1 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of endometrium | 0.000271442 | 1 | 0 | BeFree |
Exanthema | 0.000271442 | 1 | 0 | BeFree |
Disorder of eye | 0.000271442 | 1 | 0 | BeFree |
Ganglioneuroma | 0.000271442 | 1 | 0 | BeFree |
Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree |
Hematological Disease | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Hydrocephalus | 0.000271442 | 1 | 0 | BeFree |
insulinoma | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute Promyelocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, T-Cell | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Premature Menopause | 0.000271442 | 1 | 0 | BeFree |
Myoepithelioma | 0.000271442 | 1 | 0 | BeFree |
Neoplasms, Experimental | 0.000271442 | 1 | 0 | BeFree |
Nephroblastoma | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Nodule | 0.000271442 | 1 | 0 | BeFree |
Obesity, Morbid | 0.000271442 | 1 | 0 | BeFree |
Obsessive-Compulsive Disorder | 0.000271442 | 1 | 0 | BeFree |
Osteochondritis Dissecans | 0.000271442 | 1 | 0 | BeFree |
Parathyroid Diseases | 0.000271442 | 1 | 0 | BeFree |
Retinopathy of Prematurity | 0.000271442 | 1 | 0 | BeFree |
Retroviridae Infections | 0.000271442 | 1 | 0 | BeFree |
Tetralogy of Fallot | 0.000271442 | 1 | 0 | BeFree |
Truncus Arteriosus, Persistent | 0.000271442 | 1 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Ovarian Failure, Premature | 0.000271442 | 1 | 0 | BeFree |
Rous Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Central hypothyroidism | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma in Situ | 0.000271442 | 1 | 0 | BeFree |
Non-Functioning Pituitary Gland Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Growth Hormone-Secreting Pituitary Adenoma | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Chromosome 8, trisomy | 0.000271442 | 1 | 0 | BeFree |
Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Aqueous Humor Disorders | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Spots on skin | 0.000271442 | 1 | 0 | BeFree |
Hurthle Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
Mature B-Cell Non-Hodgkin Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Oncocytic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Oxyphilic Adenoma | 0.000271442 | 1 | 0 | BeFree |
androgen independent prostate cancer | 0.000271442 | 1 | 0 | BeFree |
Null Cell Pituitary Gland Adenoma | 0.000271442 | 1 | 0 | BeFree |
Uterine Corpus Cancer | 0.000271442 | 1 | 0 | BeFree |
Leukemia, B-Cell | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Promyelocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
ESTROGEN RESISTANCE | 0.000271442 | 1 | 0 | BeFree |
Lymphoblastic leukemia in children | 0.000271442 | 1 | 0 | BeFree |
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