基因總覽
XBP1（X-box binding protein 1）是蛋白質編碼基因，產物屬於 bZIP 家族轉錄因子。其蛋白質具有不同異構型，特徵包括 bZIP 區域，以及與膜相關的區段；異構型間的差異與其細胞內行為及作用方式相關。XBP1的主要角色與細胞面對內質網壓力時的反應有關，並參與免疫細胞分化、血管內皮細胞活動及代謝相關調節。其功能並不限於單一細胞情境，也會隨刺激與異構型而有所不同。
基因異名與舊稱
異名取自 HGNC，可能包含歷史名稱；蛋白質名稱以 UniProt 註解為準。
染色體位置與基因結構
查看實際轉錄本與 exon 註解
| Transcript | Genomic coordinates | Exons |
|---|---|---|
| ENST00000344347 ★ | 28,794,560–28,800,569 | 6 |
| ENST00000216037 | 28,793,534–28,800,597 | 5 |
| ENST00000403532 | 28,793,534–28,800,597 | 5 |
| ENST00000405219 | 28,793,534–28,800,133 | 5 |
| ENST00000933819 | 28,793,534–28,800,597 | 4 |
| ENST00000977387 | 28,793,534–28,800,597 | 5 |
| ENST00001131974 | 28,793,534–28,800,597 | 6 |
| ENST00000977384 | 28,794,369–28,800,597 | 5 |
| ENST00001119358 | 28,794,560–28,800,597 | 2 |
| ENST00000877101 | 28,794,564–28,800,597 | 3 |
顯示 10/10 個蛋白質編碼轉錄本；canonical 優先。
帶型與著絲點依 Ensembl 座標繪製；核染色體長度以 GRCh38 第 1 號染色體為共同尺度。黃色標記表示本基因位置，細小區間加粗以利辨識；實際基因長度與 exon 見下方資料。
分子功能與生物學過程
在內質網壓力下，XBP1參與未摺疊蛋白反應（UPR）的轉錄調控。作為可受壓力誘導的轉錄活化因子，XBP1結合UPR element（UPRE）及內質網壓力反應元件，促使靶基因表現；其中包括編碼內質網伴護蛋白與內質網相關降解（ERAD）組件的基因，有助於提升蛋白質摺疊及降解能力，維持內質網恆定。XBP1也促進磷脂質生合成與內質網擴張。來源並指出，XBP1可調節細胞對內質網壓力的反應，且此作用依賴PIK3R。
XBP1參與自身mRNA的非典型細胞質剪接加工。內質網壓力下，初生XBP1多肽鏈隨mRNA－核糖體－新生鏈複合體短暫停留於內質網膜，並協助招募尚未加工的自身mRNA，使ERN1／IRE1介導的剪接及XBP1 mRNA isoform 2產生更有效率。在內皮細胞中，VEGF相關的KDR作用也與促進IRE1介導的isoform 2生成有關。相對地，isoform 1可透過蛋白酶體介導的降解降低isoform 2蛋白質量，並抑制其轉錄活性，避免內質網壓力訊號持續活化。
在免疫系統中，XBP1參與B淋巴細胞末端分化為漿細胞及免疫球蛋白生成；在漿細胞分化所需刺激存在時，也與免疫球蛋白及interleukin-6的產生有關。胚胎發育方面，來源以相似性推論指出XBP1為心肌形成、肝臟發生，以及外分泌胰臟和唾液腺等分泌組織發育所需。
XBP1亦參與血管內皮細胞反應。它與VEGF誘導的內皮細胞增殖、胚胎視網膜血管形成，以及成人缺血條件下的血管新生有關；相關作用可連結至β-catenin核轉位與E2F2基因表現。另一方面，來源指出XBP1可在caspase依賴路徑中促進臍靜脈內皮細胞凋亡，並與動脈粥樣硬化發展有關；這些不同效應須依研究條件理解。XBP1也參與endostatin誘導的內皮細胞自噬，並與HDAC3及NFE2L2介導的HMOX1表現相關。
其他報告指出，XBP1在乳癌細胞中可促進SNAI1轉錄，進而涉及上皮間質轉化、細胞移動與侵襲；在肝臟則與胰島素敏感性、葡萄糖恆定及肝細胞脂質生成調控有關，部分作用被描述為不依賴內質網壓力或UPR。來源亦提及其參與脂肪細胞分化及多巴胺神經元存活，部分敘述屬相似性推論。
Promoter 與基因調控
>XBP1 ENST00000344347 GRCh38 chr22:28800469-28801569 strand=-1 5′→3′ 相對 TSS：-1000 到 +100 bp；1101 bp 依轉錄本 TSS 擷取的基因組序列；TSS = 0，兩端包含，未驗證為 promoter CAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT TGCTTGAACCCGGAGGCGAAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGTGACAGAG CCTGACTCCGTCTCAAAAAATAAGAAAAAAAAATAAAATAAAAATAATAGAGGCCGAAGCGGGAGGTTCA CTTGAGCTCAGAAGTTCGAGATCAGCCTGGGCAACACAGTGAGACCTCGTTTCTATTTAAAAAATAAAAT AAAACTAAATTTAAAAAAATGCACGCTCATAGTACAAACTTTAGAAATGGAACGAAAAACTAAAATTGAA GGTATTCCCCTCCAACCCAGAGATAACACCTATCGTTTATTAAGCCCTCACTATTGTTAAACTTAGTTTT AAAGGGCACGATCTCATTTCTTAAAGACTTCTATTCCGCAGAATTTCTTTCCAGGCTTTTTTCTTTTTCT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGGGTGCAGTGGCGCGATCTCGGCTCACTGAAAC CTCTGTCCAGTCTTTTCGAACCCAAGGCCCAACTGCGCTCTATCTCGACTTTCGGCTCCACTCGGATCCC GAAGTGGCGCACGAGATAAAATGTTGTCAGGCTGAGGTAATTCTCTGTTAGTCCCGGTAAAAATTCGTCA GTCTGGAAAGCTCTCGGTTTGGAATTAAATTCTGTCACTCCGGATGGAAATAAGTCCGCTTAAGGGGGGA AAATCCGTTTGTGGAGGACACGCTCCCGCACGTAACCCCCCGCGGAAAATGACCCCAAGTACCTTTGGCC AGGGATTGCCGCTGCCACGCCGGACTCCATAGCCACGGTCCTGAAACGCCCCGCCGGGCAGGCCGGACCA ATGGACGCCGAGCTCGGCCGTGCGTCACGCGACGCTGGCCAATCGCGGAGGGCCACGACCGTAGAAAGGC CGGGCGCGGCGAGGCTGGGCGCTGGGCGGCTGCGGCGCGCGGTGCGCGGTGCGTAGTCTGGAGCTATGGT GGTGGTGGCAGCCGCGCCGAACCCGGCCGACGGGACCCCTAAAGTTCTGCT
EPDnew 實驗支持 promoter／TSS · 1 筆
| EPDnew ID | TSS（1-based） | 股向 | 來源顯示區間 |
|---|---|---|---|
| XBP1_1 ↗ | 22:28,800,537 | 負股 | 28,800,527–28,800,586 |
EPDnew human v006 · UCSC hg38，GRCh38/hg38，透過 UCSC 取得。TSS 具有 CAGE／RAMPAGE 等實驗資料支持；任意擷取的上下游區間仍需另行判讀調控功能，不能視為整段皆經功能驗證。
EPD 封存狀態 ↗ · UCSC 資料說明 ↗ · EPD team, SIB Swiss Institute of Bioinformatics; UCSC Genome Browser · CC BY 4.0
查看已取得的調控／motif 註解
ENSR22_B7PBP · promoter · 28800123–28800698 · regulatory
ENSR22_D3FKP · enhancer · 28800699–28803156 · regulatory
· motif · 28796187–28796200 · motif
· motif · 28796187–28796200 · motif
· motif · 28796600–28796613 · motif
· motif · 28797398–28797405 · motif
· motif · 28797563–28797575 · motif
· motif · 28797565–28797572 · motif
· motif · 28797565–28797580 · motif
· motif · 28800621–28800637 · motif
· motif · 28800744–28800751 · motif
· motif · 28801135–28801148 · motif
· motif · 28801142–28801155 · motif
· motif · 28801184–28801197 · motif
· motif · 28801188–28801200 · motif
· motif · 28802526–28802537 · motif
· motif · 28802951–28802966 · motif
· motif · 28802951–28802966 · motif
· motif · 28802952–28802966 · motif
· motif · 28802953–28802966 · motif
· motif · 28803226–28803240 · motif
XBP1在內質網壓力反應早期上升，之後逐漸下降；早期上升可依賴ATF6。內皮細胞中，層流與擾動流對XBP1蛋白量的影響方向相反；VEGF可使其短暫上升，活性氧亦與其上升相關。漿細胞分化、IL-6及endostatin也與表現增加相關；PAX5則會下調XBP1。
蛋白質結構域與序列
參考蛋白質長度：261 aa
XBP1蛋白長261個胺基酸，屬於bZIP家族。其bZIP區域位於胺基酸70至133，包含基本基序與leucine-zipper；胺基酸75至92另有核定位訊號。isoform 1具有單次穿膜的第二型膜蛋白拓樸，細胞質側區段為胺基酸1至185，跨膜螺旋位於186至203，腔內區段為204至261。C端胺基酸235至261與自身mRNA的轉譯停頓有關。
蛋白質三維結構
細胞內定位
XBP1 isoform 1主要位於內質網膜，並可在細胞核與細胞質間依賴CRM1穿梭；其核與細胞質定位未呈現明確偏好。 isoform 2則主要位於細胞核，並可在PIK3R、內質網壓力及／或胰島素相關條件下轉入細胞核。 內皮細胞中，VEGF依賴的條件下XBP1可與ERN1及KDR在內質網共定位。 isoform 1經HM13/SPP切割後的形式則見於細胞質與細胞核。
深綠色圓點：來源記載的蛋白質定位；數量不表示含量。
未繪示構造：Membrane。這些構造未在通用細胞圖中標點，仍保留來源定位名稱。
動物細胞結構示意；器官大小與數量不按比例。點選細胞構造可查看定位註解。
交互作用與訊號網絡
拖曳節點後放開可帶動位置變化；點選夥伴查看證據。位置與連線長度不代表結合強度，圖中未推定夥伴彼此之間的關係。
更多交互作用夥伴 · 已取得 6 個夥伴
- ATF6P18850 · UniProt INTERACTION · 4 experiments
- ATF6BQ99941 · UniProt INTERACTION · 2 experiments
- CREBZFQ9NS37 · UniProt INTERACTION · 4 experiments
- HIF1AQ16665 · UniProt INTERACTION · 3 experiments
- UBE2V1Q13404 · UniProt INTERACTION · 3 experiments
- HM13Q8TCT9 · UniProt INTERACTION · 2 experiments
XBP1與HM13、RNF139及DERL1有交互作用；RNF139相關作用會促進isoform 1泛素化與降解，而DERL1與其腔內區域的交互作用，則可免除HM13/SPP切割前對胞外區段剪切的需求。isoform 1與isoform 2互相作用時，可使isoform 2滯留於細胞質並增加其降解。另有研究指出，XBP1與PIK3R1、PIK3R2直接結合，並與ATF6、FOXO1、SIRT1、HDAC3、AKT1及FOS交互作用；其中ATF6相關交互作用在內質網壓力下與UPRE DNA結合所需。
疾病與遺傳關聯
資料庫列出XBP1與Major affective disorder 7（MAFD7）的易感性關聯，指出影響此基因的變異可能與疾病易感性相關。該條目描述的疾病特徵包括躁期與重度憂鬱期之間的情緒波動；此資訊屬疾病關聯，不代表XBP1變異已被證明會直接造成疾病。
Contextual Functional Evidence Matrix
矩陣以「功能主張」為列，以細胞情境、干預條件、量測結果與證據來源為欄，方便比較同一功能在不同條件下的支持情形。只有含情境與實驗資訊的紀錄會列入矩陣；一般功能註解另列於下方。
功能註解總覽 · 13 筆
| 功能面向 | 功能敘述 | 證據類型 | 可查核來源 |
|---|---|---|---|
| 功能 | XBP1在內質網壓力時作為轉錄因子調節未摺疊蛋白反應。依相似性資料，它對胚胎期心肌形成、肝臟發育及外分泌胰臟、唾液腺等分泌組織發育有所需；也參與B淋巴細胞分化為漿細胞與免疫球蛋白生成。其內質網壓力反應調節依賴PIK3R，並可結合主要組織相容性複合體第二類基因啟動子中的X box。它亦與VEGF誘導的內皮細胞增殖、胚胎視網膜血管形成及缺血條件下成人血管新生有關；肥胖相關胰島素阻抗及第二型糖尿病的UPR調節則屬相似性推論。 | 含實驗來源 | 證據與來源Functions as a transcription factor during endoplasmic reticulum (ER) stress by regulating the unfolded protein response (UPR). Required for cardiac myogenesis and hepatogenesis during embryonic development, and the development of secretory tissues such as exocrine pancreas and salivary gland (By similarity). Involved in terminal differentiation of B lymphocytes to plasma cells and production of immunoglobulins. Modulates the cellular response to ER stress in a PIK3R-dependent manner. Binds to the cis-acting X box present in the promoter regions of major histocompatibility complex class II genes. Involved in VEGF-induced endothelial cell (EC) proliferation and retinal blood vessel formation during embryonic development but also for angiogenesis in adult tissues under ischemic conditions. Also functions as a major regulator of the UPR in obesity-induced insulin resistance and type 2 diabetes for the management of obesity and diabetes prevention (By similarity) PMID 11460154 ↗ · PMID 20348923 ↗ · PMID 8349596 ↗ |
| 功能 | 內質網壓力下，初生XBP1多肽鏈隨mRNA－核糖體－新生鏈複合體短暫停留於內質網膜，並招募自身未加工mRNA，藉轉譯暫停促進ERN1／IRE1介導的isoform 2生成。內皮細胞中，VEGF依賴的KDR相關作用也促進此剪接及血管新生。isoform 1可透過蛋白酶體降解調節isoform 2蛋白量，避免壓力訊號持續活化，並在骨髓瘤細胞中抑制isoform 2轉錄活性。XBP1可弱化轉錄因子，也會結合多種調控元件及基因啟動子；在內皮細胞擾動流／氧化壓力下，並與HDAC3共同參與NFE2L2介導的HMOX1表現及細胞存活。 | 含實驗來源 | 證據與來源Plays a role in the unconventional cytoplasmic splicing processing of its own mRNA triggered by the endoplasmic reticulum (ER) transmembrane endoribonuclease ERN1: upon ER stress, the emerging XBP1 polypeptide chain, as part of a mRNA-ribosome-nascent chain (R-RNC) complex, cotranslationally recruits its own unprocessed mRNA through transient docking to the ER membrane and translational pausing, therefore facilitating efficient IRE1-mediated XBP1 mRNA isoform 2 production. In endothelial cells (EC), associated with KDR, promotes IRE1-mediated XBP1 mRNA isoform 2 productions in a vascular endothelial growth factor (VEGF)-dependent manner, leading to EC proliferation and angiogenesis. Functions as a negative feed-back regulator of the potent transcription factor XBP1 isoform 2 protein levels through proteasome-mediated degradation, thus preventing the constitutive activation of the ER stress response signaling pathway. Inhibits the transactivation activity of XBP1 isoform 2 in myeloma cells (By similarity). Acts as a weak transcriptional factor. Together with HDAC3, contributes to the activation of NFE2L2-mediated HMOX1 transcription factor gene expression in a PI(3)K/mTORC2/Akt-dependent signaling pathway leading to EC survival under disturbed flow/oxidative stress. Binds to the ER stress response element (ERSE) upon ER stress. Binds to the consensus 5'-GATGACGTG[TG]N(3)[AT]T-3' sequence related to cAMP responsive element (CRE)-like sequences. Binds the Tax-responsive element (TRE) present in the long terminal repeat (LTR) of T-cell leukemia virus type 1 (HTLV-I) and to the TPA response elements (TRE). Associates preferentially to the HDAC3 gene promoter region in a static flow-dependent manner. Binds to the CDH5/VE-cadherin gene promoter region PMID 11779464 ↗ · PMID 16461360 ↗ · PMID 1903538 ↗ · PMID 19394296 ↗ · PMID 19416856 ↗ · PMID 21233347 ↗ · PMID 2196176 ↗ · PMID 2321018 ↗ · PMID 23529610 ↗ · PMID 25190803 ↗ · PMID 25239945 ↗ · PMID 8657566 ↗ |
| 功能 | 內質網壓力時，XBP1結合UPRE並活化UPR靶基因，包括內質網伴護蛋白及ERAD組件，以提升蛋白質摺疊與降解能力、維持內質網恆定；它也促進磷脂質合成和內質網擴張。XBP1參與漿細胞分化相關的免疫球蛋白及interleukin-6生成、VEGF相關內皮細胞增殖與血管新生，也涉及內皮細胞凋亡、自噬及動脈粥樣硬化發展。其他來源描述其與乳癌細胞轉移相關表型、脂肪細胞分化、神經元存活，以及肝臟葡萄糖與脂質代謝調節有關；部分內容依相似性推論，或明確指出不依賴內質網壓力及UPR。 | 含實驗來源 | 證據與來源Functions as a stress-inducible potent transcriptional activator during endoplasmic reticulum (ER) stress by inducing unfolded protein response (UPR) target genes via binding to the UPR element (UPRE). Up-regulates target genes encoding ER chaperones and ER-associated degradation (ERAD) components to enhance the capacity of productive folding and degradation mechanism, respectively, in order to maintain the homeostasis of the ER under ER stress. Plays a role in the production of immunoglobulins and interleukin-6 in the presence of stimuli required for plasma cell differentiation (By similarity). Induces phospholipid biosynthesis and ER expansion. Contributes to the VEGF-induced endothelial cell (EC) growth and proliferation in a Akt/GSK-dependent and/or -independent signaling pathway, respectively, leading to beta-catenin nuclear translocation and E2F2 gene expression. Promotes umbilical vein EC apoptosis and atherosclerotisis development in a caspase-dependent signaling pathway, and contributes to VEGF-induced EC proliferation and angiogenesis in adult tissues under ischemic conditions. Involved in the regulation of endostatin-induced autophagy in EC through BECN1 transcriptional activation. Plays a role as an oncogene by promoting tumor progression: stimulates zinc finger protein SNAI1 transcription to induce epithelial-to-mesenchymal (EMT) transition, cell migration and invasion of breast cancer cells. Involved in adipocyte differentiation by regulating lipogenic gene expression during lactation. Plays a role in the survival of both dopaminergic neurons of the substantia nigra pars compacta (SNpc), by maintaining protein homeostasis and of myeloma cells. Increases insulin sensitivity in the liver as a response to a high carbohydrate diet, resulting in improved glucose tolerance. Also improves glucose homeostasis in an ER stress- and/or insulin-independent manner through both binding and proteasome-induced degradation of the transcription factor FOXO1, hence resulting in suppression of gluconeogenic genes expression and in a reduction of blood glucose levels. Controls the induction of de novo fatty acid synthesis in hepatocytes by regulating the expression of a subset of lipogenic genes in an ER stress- and UPR-independent manner (By similarity). Associates preferentially to the HDAC3 gene promoter region in a disturbed flow-dependent manner. Binds to the BECN1 gene promoter region. Binds to the CDH5/VE-cadherin gene promoter region. Binds to the ER stress response element (ERSE) upon ER stress. Binds to the 5'-CCACG-3' motif in the PPARG promoter (By similarity). Binds to the HEPN1 gene promoter region and activates transcription PMID 11779464 ↗ · PMID 15466483 ↗ · PMID 19416856 ↗ · PMID 23184933 ↗ · PMID 23529610 ↗ · PMID 25190803 ↗ · PMID 25239945 ↗ · PMID 25280941 ↗ · PMID 25448679 ↗ |
| 交互作用 | XBP1與HM13、RNF139及DERL1交互作用；RNF139相關作用會誘導isoform 1泛素化與降解，DERL1則透過結合腔內區域，使HM13/SPP切割isoform 1前不必先剪切胞外區段。isoform 1與isoform 2交互作用時，會使isoform 2滯留於細胞質並促進其降解。XBP1也與HDAC3、AKT1交互作用，且此交互作用見於擾動流下的內皮細胞；此外，它與致癌蛋白FOS交互作用。 | 含實驗來源 | 證據與來源Interacts with HM13. Interacts with RNF139; the interaction induces ubiquitination and degradation of isoform 1. Interacts (via luminal domain) with DERL1; the interaction obviates the need for ectodomain shedding prior to HM13/SPP-mediated XBP1 isoform 1 cleavage. Interacts with isoform 2; the interaction sequesters isoform 2 from the nucleus and enhances isoform 2 degradation in the cytoplasm. Interacts with HDAC3 and AKT1; the interactions occur in endothelial cells (EC) under disturbed flow. Interacts with the oncoprotein FOS PMID 16461360 ↗ · PMID 1903538 ↗ · PMID 25190803 ↗ · PMID 25239945 ↗ |
| 交互作用 | XBP1與SIRT1交互作用，並直接結合PIK3R1及PIK3R2；在內質網壓力及／或胰島素相關條件下，此作用可促使isoform 2進入細胞核並活化依賴XBP1的UPR靶基因，且被描述為不依賴PI3K。XBP1也直接結合FOXO1，並在肝細胞促使其泛素化及蛋白酶體降解；此機制依相似性資料提出。isoform 1與isoform 2交互作用可使後者留在細胞質並促進降解；內質網壓力依賴的XBP1與ATF6交互作用則是結合UPRE DNA所需。 | 含實驗來源 | 證據與來源Interacts with SIRT1. Interacts with PIK3R1 and PIK3R2; the interactions are direct and induce translocation of XBP1 isoform 2 into the nucleus and the unfolded protein response (UPR) XBP1-dependent target gene activation in a ER stress- and/or insulin-dependent but PI3K-independent manner. Interacts with FOXO1; the interaction is direct and leads to FOXO1 ubiquitination and degradation via the proteasome pathway in hepatocytes (By similarity). Interacts with isoform 1; the interaction sequesters isoform 2 from the nucleus and enhances isoform 2 degradation in the cytoplasm. Interacts with ATF6; the interaction occurs in a ER stress-dependent manner and is required for DNA binding to the unfolded protein response element (UPRE) PMID 16461360 ↗ · PMID 17765680 ↗ · PMID 20348923 ↗ · PMID 25239945 ↗ |
| 細胞定位 | 在內皮細胞中，XBP1會與ERN1及KDR於內質網共定位；此共定位依賴血管內皮生長因子（VEGF）。 | 含實驗來源 | 證據與來源Endoplasmic reticulum; Colocalizes with ERN1 and KDR in the endoplasmic reticulum in endothelial cells in a vascular endothelial growth factor (VEGF)-dependent manner PMID 23529610 ↗ |
| 細胞定位 | isoform 1可見於細胞核、細胞質及內質網膜，主要以穿膜蛋白形式位於內質網膜，在細胞質側作為周邊膜蛋白的定位可能僅占少數。它在細胞核與細胞質間依賴CRM1穿梭，且沒有明確偏向其中一處；部分定位敘述依相似性資料。 | 含實驗來源 | 證據與來源Isoform 1; Nucleus; Cytoplasm; Endoplasmic reticulum membrane / Single-pass type II membrane protein; Endoplasmic reticulum membrane / Peripheral membrane protein; Membrane / Peripheral membrane protein; Shows no preferential localization to either the nucleus or the cytoplasm (By similarity). Shuttles between the nucleus and the cytoplasm in a CRM1-dependent manner. Localizes predominantly at the endoplasmic reticulum membrane as a membrane-spanning protein; whereas may be only marginally localized on the cytosolic side of the ER membrane as a peripheral membrane PMID 16461360 ↗ · PMID 19394296 ↗ · PMID 20348923 ↗ · PMID 25190803 ↗ · PMID 25239945 ↗ |
| 細胞定位 | isoform 2主要定位於細胞核，並與SIRT1在核內共定位。它可在PIK3R、內質網壓力誘導及／或胰島素依賴的條件下轉入細胞核；此定位變化的部分敘述依相似性資料。 | 含實驗來源 | 證據與來源Isoform 2; Nucleus; Cytoplasm; Localizes predominantly in the nucleus. Colocalizes in the nucleus with SIRT1. Translocates into the nucleus in a PIK3R-, ER stress-induced- and/or insulin-dependent manner (By similarity) PMID 16461360 ↗ · PMID 19394296 ↗ · PMID 20348923 ↗ · PMID 20955178 ↗ |
| 細胞定位 | isoform 1經HM13/SPP介導的膜內蛋白水解切割後，X-box-binding protein 1的細胞質形式可定位於細胞質與細胞核。 | 含實驗來源 | 證據與來源X-box-binding protein 1, cytoplasmic form; Cytoplasm; Nucleus; Localizes in the cytoplasm and nucleus after HM13/SPP-mediated intramembrane proteolytic cleavage of isoform 1 PMID 25239945 ↗ |
| 調控 | B細胞專一性轉錄因子PAX5會下調XBP1；IL-6則會在骨髓瘤細胞中使其上升。XBP1也會在漿細胞分化期間增加，可能透過CD40受體訊號路徑，或由脂多醣等有絲分裂原誘導。 | 含實驗來源 | 證據與來源Down-regulated by the B-cell-specific transcription factor PAX5. Up-regulated by interleukin IL-6 in myeloma cells. Up-regulated during plasma-cell differentiation, either through the CD40 receptor signaling pathway or mitogens such as lipopolysaccharide (LPS) PMID 10375612 ↗ · PMID 11460154 ↗ · PMID 8627152 ↗ |
| 調控 | XBP1會在內質網壓力反應的恢復階段上升。體外培養的人臍靜脈內皮細胞中，層流會降低XBP1蛋白量，而擾動流則會使蛋白量增加。 | 含實驗來源 | 證據與來源Up-regulated at the recovery phase of the endoplasmic reticulum (ER) stress response. Down-regulated by laminar flow but up-regulated by disturbed flow in umbilical vein endothelial cells in vitro (at protein level) PMID 16461360 ↗ · PMID 19416856 ↗ · PMID 25190803 ↗ |
| 調控 | XBP1在內質網壓力早期上升，之後逐漸下降；早期上升依賴ATF6。人臍靜脈內皮細胞中，層流下調而擾動流上調其蛋白量。endostatin以ERN1依賴方式使其增加，VEGF在內皮細胞中則引起短暫上升；活性氧也與XBP1增加相關。 | 含實驗來源 | 證據與來源Up-regulated early during the ER stress response and gradually decreased at later phase of ER stress. Down-regulated by laminar flow but up-regulated by disturbed flow in umbilical vein endothelial cells in vitro (at protein level). Up-regulated early during the ER stress response in a ATF6-dependent manner. Up-regulated by endostatin in a ERN1-dependent manner. Transiently up-regulated by the mitogenic vascular endothelial growth factor (VEGF) in endothelial cells. Up-regulated by reactive oxygen species PMID 11779464 ↗ · PMID 16461360 ↗ · PMID 17110785 ↗ · PMID 19416856 ↗ · PMID 23184933 ↗ · PMID 23529610 ↗ · PMID 25190803 ↗ · PMID 25448679 ↗ |
| 疾病關聯 | 資料庫列出Major affective disorder 7（MAFD7），這是一種以躁期與重度憂鬱期交替為特徵的主要精神疾病；躁期可能伴隨欣快、易怒或興奮，憂鬱期則有低落情緒、動機與精力下降。資料指出，影響此條目所代表基因的變異可能與疾病易感性相關，並未表示該基因變異必然造成疾病。 | 資料庫紀錄 | 證據與來源Major affective disorder 7 MAFD7 A major psychiatric disorder that is characterized by severe mood swings, with fluctuation between two abnormal mood states (manic or major depressive episode). Mania is accompanied by symptoms of euphoria, irritability, or excitation, whereas depression is associated with low mood and decreased motivation and energy. Disease susceptibility may be associated with variants affecting the gene represented in this entry MIM: 612371 |
核酸與蛋白質序列
GCTGGGCGGCTGCGGCGCGCGGTGCGCGGTGCGTAGTCTG40GAGCTATGGTGGTGGTGGCAGCCGCGCCGAACCCGGCCGA80CGGGACCCCTAAAGTTCTGCTTCTGTCGGGGCAGCCCGCC120TCCGCCGCCGGAGCCCCGGCCGGCCAGGCCCTGCCGCTCA160TGGTGCCAGCCCAGAGAGGGGCCAGCCCGGAGGCAGCGAG200CGGGGGGCTGCCCCAGGCGCGCAAGCGACAGCGCCTCACG240CACCTGAGCCCCGAGGAGAAGGCGCTGAGGAGGAAACTGA280AAAACAGAGTAGCAGCTCAGACTGCCAGAGATCGAAAGAA320GGCTCGAATGAGTGAGCTGGAACAGCAAGTGGTAGATTTA360GAAGAAGAGAACCAAAAACTTTTGCTAGAAAATCAGCTTT400TACGAGAGAAAACTCATGGCCTTGTAGTTGAGAACCAGGA440GTTAAGACAGCGCTTGGGGATGGATGCCCTGGTTGCTGAA480GAGGAGGCGGAAGCCAAGGGGAATGAAGTGAGGCCAGTGG520CCGGGTCTGCTGAGTCCGCAGCAGGTGCAGGCCCAGTTGT560CACCCCTCCAGAACATCTCCCCATGGATTCTGGCGGTATT600GACTCTTCAGATTCAGAGTCTGATATCCTGTTGGGCATTC640TGGACAACTTGGACCCAGTCATGTTCTTCAAATGCCCTTC680CCCAGAGCCTGCCAGCCTGGAGGAGCTCCCAGAGGTCTAC720CCAGAAGGACCCAGTTCCTTACCAGCCTCCCTTTCTCTGT760CAGTGGGGACGTCATCAGCCAAGCTGGAAGCCATTAATGA800ACTAATTCGTTTTGACCACATATATACCAAGCCCCTAGTC840TTAGAGATACCCTCTGAGACAGAGAGCCAAGCTAATGTGG880TAGTGAAAATCGAGGAAGCACCTCTCAGCCCCTCAGAGAA920TGATCACCCTGAATTCATTGTCTCAGTGAAGGAAGAACCT960cDNA 使用 DNA 字母 T；mRNA 模式改以 U 顯示。轉錄本保留已註解的非編碼區，未另外加入 poly(A) 尾；非編碼 RNA 的參考轉錄本也可能仍需後續加工。數字為所選序列的 1-based 位置。長序列以黃色捲軸瀏覽，可複製或下載完整轉錄本與蛋白質；基因組 DNA 隨捲動取得所需範圍。