GENERAL INFORMATIONi
Gene namei XBP1
Synonyms XBP2
Gene descriptioni X-box binding protein 1
Protein classi Cancer-related genes
Disease related genes
Human disease related genes
Transcription factors
Predicted locationi Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome 22
Cytoband q12.1
Chromosome location (bp) 28794555 - 28800597
Number of transcriptsi 4
Ensembl ENSG00000100219 (version 109)
Entrez gene 7494
HGNC HGNC:12801
UniProt P17861 (UniProt - Evidence at protein level)
neXtProt NX_P17861
GeneCards XBP1
Antibodypedia XBP1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i 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 1. Modulates the cellular response to ER stress in a PIK3R-dependent manner 2. Binds to the cis-acting X box present in the promoter regions of major histocompatibility complex class II genes 3. 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. Functions also 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). show less
Molecular function (UniProt)i Activator, Developmental protein, DNA-binding
Biological process (UniProt)i Angiogenesis, Apoptosis, Autophagy, Differentiation, Lipid biosynthesis, Lipid metabolism, Myogenesis, Protein transport, Stress response, Transcription, Transcription regulation, Transport, Unfolded protein response
Gene summary (Entrez)i 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] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
XBP1-201
ENSP00000216037
ENST00000216037
P17861
[Direct mapping] X-box-binding protein 1 X-box-binding protein 1, cytoplasmic form X-box-binding protein 1, luminal form
Show all
A0A024R1F0
[Target identity:100%; Query identity:100%] X-box binding protein 1, isoform CRA_b
Show all
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Basic domains
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000976 [transcription cis-regulatory region binding]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0000987 [cis-regulatory region sequence-specific DNA binding]
GO:0001525 [angiogenesis]
GO:0001889 [liver development]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0002020 [protease binding]
GO:0002639 [positive regulation of immunoglobulin production]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0006366 [transcription by RNA polymerase II]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0006629 [lipid metabolic process]
GO:0006633 [fatty acid biosynthetic process]
GO:0006914 [autophagy]
GO:0006915 [apoptotic process]
GO:0006955 [immune response]
GO:0006986 [response to unfolded protein]
GO:0006990 [positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response]
GO:0007517 [muscle organ development]
GO:0008284 [positive regulation of cell population proliferation]
GO:0010832 [negative regulation of myotube differentiation]
GO:0015031 [protein transport]
GO:0016020 [membrane]
GO:0030154 [cell differentiation]
GO:0030335 [positive regulation of cell migration]
GO:0030968 [endoplasmic reticulum unfolded protein response]
GO:0031490 [chromatin DNA binding]
GO:0031625 [ubiquitin protein ligase binding]
GO:0031647 [regulation of protein stability]
GO:0031648 [protein destabilization]
GO:0031670 [cellular response to nutrient]
GO:0032008 [positive regulation of TOR signaling]
GO:0032755 [positive regulation of interleukin-6 production]
GO:0032869 [cellular response to insulin stimulus]
GO:0034599 [cellular response to oxidative stress]
GO:0034976 [response to endoplasmic reticulum stress]
GO:0035356 [cellular triglyceride homeostasis]
GO:0035470 [positive regulation of vascular wound healing]
GO:0035924 [cellular response to vascular endothelial growth factor stimulus]
GO:0036498 [IRE1-mediated unfolded protein response]
GO:0036500 [ATF6-mediated unfolded protein response]
GO:0036503 [ERAD pathway]
GO:0042149 [cellular response to glucose starvation]
GO:0042307 [positive regulation of protein import into nucleus]
GO:0042632 [cholesterol homeostasis]
GO:0042802 [identical protein binding]
GO:0043066 [negative regulation of apoptotic process]
GO:0045348 [positive regulation of MHC class II biosynthetic process]
GO:0045579 [positive regulation of B cell differentiation]
GO:0045582 [positive regulation of T cell differentiation]
GO:0045600 [positive regulation of fat cell differentiation]
GO:0045766 [positive regulation of angiogenesis]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046982 [protein heterodimerization activity]
GO:0048666 [neuron development]
GO:0055089 [fatty acid homeostasis]
GO:0055092 [sterol homeostasis]
GO:0060612 [adipose tissue development]
GO:0071222 [cellular response to lipopolysaccharide]
GO:0071230 [cellular response to amino acid stimulus]
GO:0071332 [cellular response to fructose stimulus]
GO:0071333 [cellular response to glucose stimulus]
GO:0071353 [cellular response to interleukin-4]
GO:0071375 [cellular response to peptide hormone stimulus]
GO:0071498 [cellular response to fluid shear stress]
GO:0071499 [cellular response to laminar fluid shear stress]
GO:0090575 [RNA polymerase II transcription regulator complex]
GO:1900100 [positive regulation of plasma cell differentiation]
GO:1900102 [negative regulation of endoplasmic reticulum unfolded protein response]
GO:1900103 [positive regulation of endoplasmic reticulum unfolded protein response]
GO:1902236 [negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway]
GO:1903489 [positive regulation of lactation]
GO:1990418 [response to insulin-like growth factor stimulus]
GO:1990837 [sequence-specific double-stranded DNA binding]
GO:2000347 [positive regulation of hepatocyte proliferation]
Show all
 261 aa
28.7 kDa 		No 0
XBP1-202
ENSP00000343155
ENST00000344347
P17861
[Direct mapping] X-box-binding protein 1 X-box-binding protein 1, cytoplasmic form X-box-binding protein 1, luminal form
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Basic domains
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000976 [transcription cis-regulatory region binding]
GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0000987 [cis-regulatory region sequence-specific DNA binding]
GO:0001525 [angiogenesis]
GO:0001558 [regulation of cell growth]
GO:0001889 [liver development]
GO:0001934 [positive regulation of protein phosphorylation]
GO:0001935 [endothelial cell proliferation]
GO:0002639 [positive regulation of immunoglobulin production]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0006366 [transcription by RNA polymerase II]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0006629 [lipid metabolic process]
GO:0006633 [fatty acid biosynthetic process]
GO:0006914 [autophagy]
GO:0006915 [apoptotic process]
GO:0006955 [immune response]
GO:0006986 [response to unfolded protein]
GO:0006990 [positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response]
GO:0006996 [organelle organization]
GO:0007517 [muscle organ development]
GO:0008284 [positive regulation of cell population proliferation]
GO:0010508 [positive regulation of autophagy]
GO:0010832 [negative regulation of myotube differentiation]
GO:0014065 [phosphatidylinositol 3-kinase signaling]
GO:0015031 [protein transport]
GO:0016020 [membrane]
GO:0019901 [protein kinase binding]
GO:0030154 [cell differentiation]
GO:0030331 [nuclear estrogen receptor binding]
GO:0030335 [positive regulation of cell migration]
GO:0030512 [negative regulation of transforming growth factor beta receptor signaling pathway]
GO:0030968 [endoplasmic reticulum unfolded protein response]
GO:0031062 [positive regulation of histone methylation]
GO:0031490 [chromatin DNA binding]
GO:0031648 [protein destabilization]
GO:0031670 [cellular response to nutrient]
GO:0032755 [positive regulation of interleukin-6 production]
GO:0032869 [cellular response to insulin stimulus]
GO:0034976 [response to endoplasmic reticulum stress]
GO:0035356 [cellular triglyceride homeostasis]
GO:0035470 [positive regulation of vascular wound healing]
GO:0035924 [cellular response to vascular endothelial growth factor stimulus]
GO:0036498 [IRE1-mediated unfolded protein response]
GO:0036500 [ATF6-mediated unfolded protein response]
GO:0036503 [ERAD pathway]
GO:0042149 [cellular response to glucose starvation]
GO:0042632 [cholesterol homeostasis]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043066 [negative regulation of apoptotic process]
GO:0045348 [positive regulation of MHC class II biosynthetic process]
GO:0045579 [positive regulation of B cell differentiation]
GO:0045582 [positive regulation of T cell differentiation]
GO:0045600 [positive regulation of fat cell differentiation]
GO:0045766 [positive regulation of angiogenesis]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0046982 [protein heterodimerization activity]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048666 [neuron development]
GO:0051897 [positive regulation of protein kinase B signaling]
GO:0055089 [fatty acid homeostasis]
GO:0055092 [sterol homeostasis]
GO:0060394 [negative regulation of pathway-restricted SMAD protein phosphorylation]
GO:0060612 [adipose tissue development]
GO:0070373 [negative regulation of ERK1 and ERK2 cascade]
GO:0071073 [positive regulation of phospholipid biosynthetic process]
GO:0071222 [cellular response to lipopolysaccharide]
GO:0071230 [cellular response to amino acid stimulus]
GO:0071332 [cellular response to fructose stimulus]
GO:0071333 [cellular response to glucose stimulus]
GO:0071353 [cellular response to interleukin-4]
GO:0071375 [cellular response to peptide hormone stimulus]
GO:0071498 [cellular response to fluid shear stress]
GO:0071499 [cellular response to laminar fluid shear stress]
GO:0090575 [RNA polymerase II transcription regulator complex]
GO:1900100 [positive regulation of plasma cell differentiation]
GO:1900103 [positive regulation of endoplasmic reticulum unfolded protein response]
GO:1901985 [positive regulation of protein acetylation]
GO:1902236 [negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway]
GO:1903071 [positive regulation of ER-associated ubiquitin-dependent protein catabolic process]
GO:1903489 [positive regulation of lactation]
GO:1904707 [positive regulation of vascular associated smooth muscle cell proliferation]
GO:1904754 [positive regulation of vascular associated smooth muscle cell migration]
GO:1990418 [response to insulin-like growth factor stimulus]
GO:1990440 [positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress]
GO:1990837 [sequence-specific double-stranded DNA binding]
GO:2000347 [positive regulation of hepatocyte proliferation]
GO:2000353 [positive regulation of endothelial cell apoptotic process]
Show all
 376 aa
40.1 kDa 		No 0
XBP1-203
ENSP00000385162
ENST00000403532
B1AHH2
[Direct mapping] X-box-binding protein 1
Show all
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [DNA-binding transcription factor activity]
GO:0005634 [nucleus]
GO:0006355 [regulation of DNA-templated transcription]
Show all
 266 aa
29.3 kDa 		No 0
XBP1-204
ENSP00000384295
ENST00000405219
B1AHH1
[Direct mapping] X-box-binding protein 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Other diseases
   Mental and behavioural disorders
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [DNA-binding transcription factor activity]
GO:0005634 [nucleus]
GO:0006355 [regulation of DNA-templated transcription]
Show all
 211 aa
24 kDa 		No 1

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