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This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). The resulting loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. A pseudogene of XBP1 has been identified and localized to chromosome 5. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码通过结合被称为一个X框的启动子元件调节MHC II类基因的转录因子。这个基因的产物是一个的bZIP蛋白,其也被确定为结合到增强的T细胞白血病病毒1型启动子的启动子的细胞转录因子。它可以通过作为病毒反的DNA结合伙伴增加病毒蛋白质的表达。业已发现,在内质网(ER)折叠蛋白的积累,该基因的mRNA通过一个由内切核酸酶肌醇需要酶1(IRE1)介导的一种非常规的剪接机制加工成活性形式。核苷酸从剪接的mRNA的26造成的损失会导致移码和同种型XBP1(S),它是有功能活性的转录因子。由未剪接的mRNA所编码的同种型,XBP1(U)组成型表达,并且被认为充当XBP1(S)的一个负反馈调节器,其在ER应激的恢复阶段关闭靶基因的转录。 XBP1的假基因已被确定和定位于[由RefSeq的,2008年7月提供] 5号染色体
XBP1基因(以及对应的蛋白质)的细胞分布位置:
XBP1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Fatty Liver | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Glioma | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Non-alcoholic Fatty Liver Disease | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Squamous cell carcinoma of esophagus | 0.12 | 1 | 1 | GWASCAT |
Malignant neoplasm of esophagus | 0.12 | 1 | 1 | GWASCAT |
MAJOR AFFECTIVE DISORDER 1 | 0.12 | 0 | 0 | CTD_human |
MAJOR AFFECTIVE DISORDER 7 | 0.12 | 0 | 0 | CTD_human |
Schizophrenia | 0.013549688 | 6 | 0 | BeFree_GAD_LHGDN |
Bipolar Disorder | 0.011530042 | 15 | 0 | BeFree_GAD_LHGDN |
Mammary Neoplasms | 0.008444493 | 3 | 0 | BeFree_LHGDN |
Multiple Myeloma | 0.006795978 | 15 | 0 | BeFree_LHGDN |
Vitiligo | 0.005005506 | 2 | 0 | BeFree_GAD |
Personality Traits | 0.004734064 | 2 | 0 | GAD |
Crohn Disease | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Adenocarcinoma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.003257302 | 12 | 0 | BeFree |
Ulcerative Colitis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Breast Carcinoma | 0.002985861 | 11 | 0 | BeFree |
Obesity | 0.002909916 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Mental Depression | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of lung | 0.002367032 | 1 | 0 | GAD |
Amyotrophic Lateral Sclerosis | 0.001628651 | 6 | 1 | BeFree |
Inflammatory Bowel Diseases | 0.001357209 | 5 | 0 | BeFree |
Ischemia | 0.000814326 | 3 | 0 | BeFree |
B-Cell Lymphomas | 0.000814326 | 3 | 0 | BeFree |
Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
Generalized vitiligo | 0.000814326 | 3 | 0 | BeFree |
Arteriosclerosis | 0.000542884 | 2 | 0 | BeFree |
Atherosclerosis | 0.000542884 | 2 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
Enteritis | 0.000542884 | 2 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.000542884 | 2 | 0 | BeFree |
Lymphoma | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000542884 | 2 | 0 | BeFree |
Plasmacytoma | 0.000542884 | 2 | 0 | BeFree |
Unipolar Depression | 0.000542884 | 2 | 0 | BeFree |
Sarcoma | 0.000542884 | 2 | 0 | BeFree |
Major Depressive Disorder | 0.000542884 | 2 | 0 | BeFree |
Primary Effusion Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Mental disorders | 0.000271442 | 1 | 0 | BeFree |
Bone Diseases | 0.000271442 | 1 | 0 | BeFree |
Borderline Personality Disorder | 0.000271442 | 1 | 0 | BeFree |
Bronchopulmonary Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cerebral Infarction | 0.000271442 | 1 | 0 | BeFree |
Colitis | 0.000271442 | 1 | 0 | BeFree |
Depressive disorder | 0.000271442 | 1 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
Hearing Loss, High-Frequency | 0.000271442 | 1 | 0 | BeFree |
Heart failure | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Hodgkin Disease | 0.000271442 | 1 | 0 | BeFree |
Hyperinsulinism | 0.000271442 | 1 | 0 | BeFree |
Immune System Diseases | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Alcoholic Liver Diseases | 0.000271442 | 1 | 0 | BeFree |
Lymphocytic Choriomeningitis | 0.000271442 | 1 | 0 | BeFree |
Waldenstrom Macroglobulinemia | 0.000271442 | 1 | 0 | BeFree |
Single major depressive episode | 0.000271442 | 1 | 0 | BeFree |
Monoclonal Gammopathy of Undetermined Significance | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Skin Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Low Grade Lymphoma (neoplasm) | 0.000271442 | 1 | 0 | BeFree |
Synovial Cyst | 0.000271442 | 1 | 0 | BeFree |
Pancreatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
Idiopathic pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Adrenoleukodystrophy | 0.000271442 | 1 | 0 | BeFree |
Dyslipidemias | 0.000271442 | 1 | 0 | BeFree |
Prediabetes syndrome | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Necrotizing Enterocolitis | 0.000271442 | 1 | 0 | BeFree |
Metabolic Syndrome X | 0.000271442 | 1 | 0 | BeFree |
Hypotriglyceridaemia | 0.000271442 | 1 | 0 | BeFree |
Periodic syndrome | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Inclusion Body Myopathy, Sporadic | 0.000271442 | 1 | 0 | BeFree |
Bipolar I disorder | 0.000271442 | 1 | 0 | BeFree |
latent infection | 0.000271442 | 1 | 0 | BeFree |
Cerebral Ischemia | 0.000271442 | 1 | 0 | BeFree |
West Nile viral infection | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Myxoid cyst | 0.000271442 | 1 | 0 | BeFree |
Inflammatory disorder | 0.000271442 | 1 | 0 | BeFree |
Human T-cell lymphotropic virus 1 infection | 0.000271442 | 1 | 0 | BeFree |
Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 0.000271442 | 1 | 0 | BeFree |
AMYOTROPHIC LATERAL SCLEROSIS 1 | 0.000271442 | 1 | 0 | BeFree |
Plasma Cell Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pulmonary arterial hypertension | 0.000271442 | 1 | 0 | BeFree |
Nonalcoholic Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
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