XBP1 (X-box binding protein 1)
- symbol:
- XBP1
- locus group:
- protein-coding gene
- location:
- 22q12.1
- gene_family:
- Basic leucine zipper proteins
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 7494
- ensembl gene id:
- ENSG00000100219
- ucsc gene id:
- uc062cvg.1
- refseq accession:
- NM_005080
- hgnc_id:
- HGNC:12801
- approved reserved:
- 1992-02-13
XBP1（X-box binding protein 1）是一种关键的转录因子，属于碱性亮氨酸拉链（bZIP）转录因子家族，主要参与未折叠蛋白反应（UPR, unfolded protein response）和内质网应激（ER stress）的调控。该基因有两种剪接形式：XBP1u（未剪接的非活性形式）和XBP1s（剪接后的活性形式）。当细胞遭遇内质网应激时，IRE1α酶会剪接XBP1u的mRNA，产生XBP1s，后者进入细胞核激活一系列靶基因的表达，帮助细胞恢复蛋白质稳态。XBP1的靶基因主要涉及内质网相关降解（ERAD）、分子伴侣合成和脂质代谢等。XBP1的功能异常与多种疾病相关，如糖尿病、神经退行性疾病（阿尔茨海默病、帕金森病）和癌症。在癌症中，XBP1的过度表达可能促进肿瘤细胞存活和耐药性，而XBP1缺失可能导致内质网应激加剧，引发细胞凋亡。XBP1属于CREB/ATF转录因子家族，该家族成员通常通过结合DNA的特定序列（如CRE或ATF位点）调控基因表达，参与应激反应、代谢和细胞周期等过程。XBP1过表达可能增强细胞对内质网应激的耐受性，但长期激活可能导致病理状态；而XBP1表达降低则可能削弱细胞的应激适应能力，诱发炎症或凋亡。此外，XBP1与其他UPR通路分子（如ATF6、PERK）协同作用，共同维持内质网功能。在免疫系统中，XBP1还调控浆细胞的分化和抗体分泌，其突变可能导致免疫缺陷。
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]
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
基因本体信息
XBP1基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
XBP1基因的本体（GO）信息：
| 名称 |
|---|
| 4141 Protein processing in endoplasmic reticulum [PATH:hsa04141] |
| 4932 Non-alcoholic fatty liver disease (NAFLD) [PATH:hsa04932] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 名称 |
|---|
| ATF6-alpha activates chaperone genes |
| ATF6-alpha activates chaperones |
| IRE1alpha activates chaperones |
| Metabolism of proteins |
| Unfolded Protein Response (UPR) |
| XBP1(S) activates chaperone genes |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Glioma | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Fatty Liver | 0.120271442 | 2 | 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 |
| MAJOR AFFECTIVE DISORDER 7 | 0.12 | 0 | 0 | CTD_human |
| Malignant neoplasm of esophagus | 0.12 | 1 | 1 | GWASCAT |
| MAJOR AFFECTIVE DISORDER 1 | 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 |
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