XBP1 Gene (Protein Coding)

X-Box Binding Protein 1

GC22M028794
GIFtS:
46
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... See more...

Aliases for XBP1 Gene

Aliases for XBP1 Gene

  • X-Box Binding Protein 1 2 3 5
  • Tax-Responsive Element-Binding Protein 5 3 4
  • X-Box-Binding Protein 1 3 4
  • TREB-5 3 4
  • TREB5 3 4
  • XBP-1 3 4
  • XBP2 3 4
  • XBP1 5

External Ids for XBP1 Gene

Previous HGNC Symbols for XBP1 Gene

  • XBP2

Previous GeneCards Identifiers for XBP1 Gene

  • GC22M025886
  • GC22M027515
  • GC22M029190
  • GC22M012155

Summaries for XBP1 Gene

Entrez Gene Summary for XBP1 Gene

  • 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]

GeneCards Summary for XBP1 Gene

XBP1 (X-Box Binding Protein 1) is a Protein Coding gene. Diseases associated with XBP1 include Major Affective Disorder 7 and Bipolar Disorder. Among its related pathways are Metabolism of proteins and Unfolded Protein Response (UPR). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding.

UniProtKB/Swiss-Prot Summary for XBP1 Gene

  • 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 (PubMed:11460154). Modulates the cellular response to ER stress in a PIK3R-dependent manner (PubMed:20348923). Binds to the cis-acting X box present in the promoter regions of major histocompatibility complex class II genes (PubMed:8349596). 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).
  • [Isoform 1]: Plays a role in the unconventional cytoplasmic splicing processing of its own mRNA triggered by the endoplasmic reticulum (ER) transmembrane endoribonuclease ENR1: 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 (PubMed:19394296, PubMed:21233347). 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 (PubMed:23529610). 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 (PubMed:16461360, PubMed:25239945). Inhibits the transactivation activity of XBP1 isoform 2 in myeloma cells (By similarity). Acts as a weak transcriptional factor (PubMed:8657566). 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 (PubMed:25190803). Binds to the ER stress response element (ERSE) upon ER stress (PubMed:11779464). Binds to the consensus 5'-GATGACGTG[TG]N(3)[AT]T-3' sequence related to cAMP responsive element (CRE)-like sequences (PubMed:8657566). 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) (PubMed:2321018, PubMed:2196176, PubMed:1903538, PubMed:8657566). Associates preferentially to the HDAC3 gene promoter region in a static flow-dependent manner (PubMed:25190803). Binds to the CDH5/VE-cadherin gene promoter region (PubMed:19416856).
  • [Isoform 2]: 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 (PubMed:11779464, PubMed:25239945). 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 (PubMed:15466483). 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 (PubMed:23529610). 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 (PubMed:19416856, PubMed:23529610). Involved in the regulation of endostatin-induced autophagy in EC through BECN1 transcriptional activation (PubMed:23184933). 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 (PubMed:25280941). 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. Improves also 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 (PubMed:25190803). Binds to the BECN1 gene promoter region (PubMed:23184933). Binds to the CDH5/VE-cadherin gene promoter region (PubMed:19416856). Binds to the ER stress response element (ERSE) upon ER stress (PubMed:11779464). Binds to the 5'-CCACG-3' motif in the PPARG promoter (By similarity).

Gene Wiki entry for XBP1 Gene

Additional gene information for XBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for XBP1 Gene

Genomics for XBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for XBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around XBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for XBP1

Top Transcription factor binding sites by QIAGEN in the XBP1 gene promoter:
  • ATF
  • ATF-2
  • ATF6
  • C/EBPbeta
  • CRE-BP1

Genomic Locations for XBP1 Gene

Latest Assembly
chr22:28,794,555-28,800,597
(GRCh38/hg38)
Size:
6,043 bases
Orientation:
Minus strand

Previous Assembly
chr22:29,190,548-29,196,557
(GRCh37/hg19 by Entrez Gene)
Size:
6,010 bases
Orientation:
Minus strand

chr22:29,190,543-29,196,585
(GRCh37/hg19 by Ensembl)
Size:
6,043 bases
Orientation:
Minus strand

Genomic View for XBP1 Gene

Genes around XBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XBP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for XBP1 Gene

Proteins for XBP1 Gene

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  • Protein details for XBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17861-XBP1_HUMAN
    Recommended name:
    X-box-binding protein 1
    Protein Accession:
    P17861
    Secondary Accessions:
    • Q8WYK6
    • Q969P1
    • Q96BD7

    Protein attributes for XBP1 Gene

    Size:
    261 amino acids
    Molecular mass:
    28695 Da
    Quaternary structure:
    • Isoform 2 interacts with SIRT1. Isoform 2 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 genes activation in a ER stress- and/or insulin-dependent but PI3K-independent manner. Isoform 2 interacts with FOXO1; the interaction is direct and leads to FOXO1 ubiquitination and degradation via the proteasome pathway in hepatocytes (By similarity). Isoform 1 interacts with HM13 (PubMed:25239945). Isoform 1 interacts with RNF139; the interaction induces ubiquitination and degradation of isoform 1 (PubMed:25239945). Isoform 1 interacts (via luminal domain) with DERL1; the interaction obviates the need for ectodomain shedding prior HM13/SPP-mediated XBP1 isoform 1 cleavage (PubMed:25239945). Isoform 1 interacts with isoform 2; the interaction sequesters isoform 2 from the nucleus and enhances isoform 2 degradation in the cytoplasm (PubMed:16461360, PubMed:25239945). Isoform 1 interacts with HDAC3 and AKT1; the interactions occur in endothelial cell (EC) under disturbed flow (PubMed:25190803). Isoform 1 interacts with the oncoprotein FOS (PubMed:1903538). Isoform 2 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) (PubMed:17765680). Isoform 2 interacts with PIK3R1; the interaction is direct and induces translocation of XBP1 isoform 2 into the nucleus and the unfolded protein response (UPR) XBP1-dependent target genes activation in a ER stress- and/or insulin-dependent but PI3K-independent manner (PubMed:20348923).
    Miscellaneous:
    • [Isoform 2]: Potent transcriptional activator. Induced by unconventional ERN1-dependent splicing in response to endoplasmic reticulum stress (PubMed:11779464, PubMed:19622636, PubMed:19394296). ENR1 cleaves a 26-bp fragment causing a frameshift of the mRNA transcript (PubMed:11779464).

    Three dimensional structures from OCA and Proteopedia for XBP1 Gene

    Alternative splice isoforms for XBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XBP1 Gene

Protein Expression for XBP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for XBP1 Gene

  • [Isoform 2]: Acetylated by EP300; acetylation positively regulates the transcriptional activity of XBP1 isoform 2 (PubMed:20955178). Isoform 2 is deacetylated by SIRT1; deacetylation negatively regulates the transcriptional activity of XBP1 isoform 2 (PubMed:20955178).
  • [Isoform 1]: Ubiquitinated, leading to proteasome-mediated degradation in response to ER stress (PubMed:11779464, PubMed:16461360, PubMed:25239945).
  • X-box-binding protein 1, cytoplasmic form and luminal form are produced by intramembrane proteolytic cleavage of ER membrane-anchored isoform 1 triggered by HM13/SPP in a DERL1-RNF139-dependent and VCP/p97-independent manner. X-box-binding protein 1, luminal form is ubiquitinated leading to proteasomal degradation (PubMed:25239945).
  • Ubiquitination at Lys236
  • Modification sites at PhosphoSitePlus

Other Protein References for XBP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for XBP1

No data available for DME Specific Peptides for XBP1 Gene

Domains & Families for XBP1 Gene

Gene Families for XBP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transcription factors

Protein Domains for XBP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for XBP1 Gene

GenScript: Design optimal peptide antigens:
  • X-box binding protein 1 (B1AHH1_HUMAN)
  • X-box binding protein 1 (B1AHH2_HUMAN)
  • Tax-responsive element-binding protein 5 (XBP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17861

UniProtKB/Swiss-Prot:

XBP1_HUMAN :
  • Isoform 1 and isoform 2 N-terminus domains are necessary for nuclear localization targeting. Isoform 1 C-terminus domain confers localization to the cytoplasm and is sufficient to impose rapid degradation (By similarity). Isoform 1 transmembrane signal-anchor domain is necessary for its own mRNA to be recruited to the endoplasmic reticulum (ER) which will undergo unconventional ERN1-dependent splicing in response to ER stress (PubMed:19394296, PubMed:21233347). Isoform 1 N-terminus and C-terminus regions are necessary for DNA-binding and weak transcriptional activity, respectively. Isoform 2 N-terminus and C-terminus regions are necessary for DNA-binding and strong transcriptional activity upon ER stress, respectively (PubMed:11779464, PubMed:8657566). Isoform 2 C-terminus region contains a nuclear exclusion signal (NES) at positions 186 through 208. Isoform 2 C-terminus region contains a degradation domain at positions 209 through 261 (PubMed:16461360).
  • Belongs to the bZIP family.
Domain:
  • Isoform 1 and isoform 2 N-terminus domains are necessary for nuclear localization targeting. Isoform 1 C-terminus domain confers localization to the cytoplasm and is sufficient to impose rapid degradation (By similarity). Isoform 1 transmembrane signal-anchor domain is necessary for its own mRNA to be recruited to the endoplasmic reticulum (ER) which will undergo unconventional ERN1-dependent splicing in response to ER stress (PubMed:19394296, PubMed:21233347). Isoform 1 N-terminus and C-terminus regions are necessary for DNA-binding and weak transcriptional activity, respectively. Isoform 2 N-terminus and C-terminus regions are necessary for DNA-binding and strong transcriptional activity upon ER stress, respectively (PubMed:11779464, PubMed:8657566). Isoform 2 C-terminus region contains a nuclear exclusion signal (NES) at positions 186 through 208. Isoform 2 C-terminus region contains a degradation domain at positions 209 through 261 (PubMed:16461360).
Family:
  • Belongs to the bZIP family.
genes like me logo Genes that share domains with XBP1: view

Function for XBP1 Gene

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Molecular function for XBP1 Gene

UniProtKB/Swiss-Prot Function:
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 (PubMed:11460154). Modulates the cellular response to ER stress in a PIK3R-dependent manner (PubMed:20348923). Binds to the cis-acting X box present in the promoter regions of major histocompatibility complex class II genes (PubMed:8349596). 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).
UniProtKB/Swiss-Prot Function:
[Isoform 1]: Plays a role in the unconventional cytoplasmic splicing processing of its own mRNA triggered by the endoplasmic reticulum (ER) transmembrane endoribonuclease ENR1: 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 (PubMed:19394296, PubMed:21233347). 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 (PubMed:23529610). 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 (PubMed:16461360, PubMed:25239945). Inhibits the transactivation activity of XBP1 isoform 2 in myeloma cells (By similarity). Acts as a weak transcriptional factor (PubMed:8657566). 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 (PubMed:25190803). Binds to the ER stress response element (ERSE) upon ER stress (PubMed:11779464). Binds to the consensus 5'-GATGACGTG[TG]N(3)[AT]T-3' sequence related to cAMP responsive element (CRE)-like sequences (PubMed:8657566). 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) (PubMed:2321018, PubMed:2196176, PubMed:1903538, PubMed:8657566). Associates preferentially to the HDAC3 gene promoter region in a static flow-dependent manner (PubMed:25190803). Binds to the CDH5/VE-cadherin gene promoter region (PubMed:19416856).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: 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 (PubMed:11779464, PubMed:25239945). 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 (PubMed:15466483). 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 (PubMed:23529610). 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 (PubMed:19416856, PubMed:23529610). Involved in the regulation of endostatin-induced autophagy in EC through BECN1 transcriptional activation (PubMed:23184933). 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 (PubMed:25280941). 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. Improves also 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 (PubMed:25190803). Binds to the BECN1 gene promoter region (PubMed:23184933). Binds to the CDH5/VE-cadherin gene promoter region (PubMed:19416856). Binds to the ER stress response element (ERSE) upon ER stress (PubMed:11779464). Binds to the 5'-CCACG-3' motif in the PPARG promoter (By similarity).
UniProtKB/Swiss-Prot Induction:
Isoform 1 is up-regulated at the recovery phase of the endoplasmic reticulum (ER) stress response and isoform 2 is up-regulated early during the ER stress response and gradually decreased at later phase of ER stress (PubMed:16461360). Isoform 1 and isoform 2 are down-regulated by laminar flow but up-regulated by disturbed flow in umbilical vein endothelial cells in vitro (at protein level) (PubMed:19416856). Down-regulated by the B-cell-specific transcription factor PAX5 (PubMed:8627152). Up-regulated by interleukin IL-6 in myeloma cells (PubMed:10375612). Up-regulated during plasma-cell differentiation, either through the CD40 receptor signaling pathway or mitogens such as lipopolysaccharide (LPS) (PubMed:11460154). Isoform 1 and isoform 2 are down-regulated by laminar flow but up-regulated by disturbed flow in umbilical vein endothelial cells in vitro (PubMed:25190803). Isoform 2 is up-regulated early during the ER stress response in a ATF6-dependent manner (PubMed:11779464, PubMed:17110785, PubMed:16461360). Isoform 2 is up-regulated by endostatin in a ERN1-dependent manner (PubMed:23184933). Isoform 2 is transiently up-regulated by the mitogenic vascular endothelial growth factor (VEGF) in endothelial cells (PubMed:23529610).
GENATLAS Biochemistry:
X-box protein 1,binding HLA-DRA,HLA-DRB promoter

Phenotypes From GWAS Catalog for XBP1 Gene

Gene Ontology (GO) - Molecular Function for XBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA --
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA,IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISS --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000987 proximal promoter sequence-specific DNA binding IDA 2196176
genes like me logo Genes that share ontologies with XBP1: view
genes like me logo Genes that share phenotypes with XBP1: view

Animal Models for XBP1 Gene

MGI Knock Outs for XBP1:
  • Xbp1 Xbp1<tm1Nogu>
  • Xbp1 Xbp1<tm1a(EUCOMM)Wtsi>
  • Xbp1 Xbp1<tm1b(EUCOMM)Wtsi>
  • Xbp1 Xbp1<tm1.2Geno>
  • Xbp1 Xbp1<tm1Glm>
  • Xbp1 Xbp1<tm1Tiw>

Animal Models for research

Transcription Factor Targets for XBP1 Gene

Selected GeneGlobe predicted Target genes for XBP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XBP1

Clone products for research

  • Addgene plasmids for XBP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for XBP1 Gene

Localization for XBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XBP1 Gene

Endoplasmic reticulum. Note=Colocalizes with ERN1 and KDR in the endoplasmic reticulum in endothelial cells in a vascular endothelial growth factor (VEGF)-dependent manner (PubMed:23529610). {ECO:0000269 PubMed:23529610}.
[Isoform 1]: Nucleus. Cytoplasm. Endoplasmic reticulum membrane. Single-pass type II membrane protein. Endoplasmic reticulum membrane. Peripheral membrane protein. Membrane. Peripheral membrane protein. Note=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 (PubMed:16461360). 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 (PubMed:19394296, PubMed:25190803). {ECO:0000250 UniProtKB:O35426, ECO:0000269 PubMed:16461360, ECO:0000269 PubMed:19394296, ECO:0000269 PubMed:25190803}.
[Isoform 2]: Nucleus. Cytoplasm. Note=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). {ECO:0000250 UniProtKB:O35426}.
[X-box-binding protein 1, cytoplasmic form]: Cytoplasm. Nucleus. Note=Localizes in the cytoplasm and nucleus after HM13/SPP-mediated intramembranaire proteolytic cleavage of isoform 1 (PubMed:25239945). {ECO:0000269 PubMed:25239945}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for XBP1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
mitochondrion 3
golgi apparatus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endosome 2
lysosome 2

Gene Ontology (GO) - Cellular Components for XBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
GO:0005783 endoplasmic reticulum IEA,IDA 23529610
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with XBP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for XBP1 Gene

Pathways & Interactions for XBP1 Gene

genes like me logo Genes that share pathways with XBP1: view

SIGNOR curated interactions for XBP1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for XBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA --
GO:0001525 angiogenesis ISS --
GO:0001558 regulation of cell growth IDA --
GO:0001889 liver development ISS --
GO:0001934 positive regulation of protein phosphorylation IDA --
genes like me logo Genes that share ontologies with XBP1: view

Drugs & Compounds for XBP1 Gene

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(12) Drugs for XBP1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Platinum compounds Pharma 0

(8) Additional Compounds for XBP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with XBP1: view

Transcripts for XBP1 Gene

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mRNA/cDNA for XBP1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XBP1

Clone products for research

  • Addgene plasmids for XBP1

Alternative Splicing Database (ASD) splice patterns (SP) for XBP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c
SP1: - - -
SP2: - -
SP3: - -
SP4: - -
SP5:

Relevant External Links for XBP1 Gene

GeneLoc Exon Structure for
XBP1

Expression for XBP1 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for XBP1 Gene

mRNA expression in normal human tissues for XBP1 Gene
mRNA expression by GTEx for XBP1 GenemRNA expression by BioGPS for XBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for XBP1 Gene

This gene is overexpressed in Pancreas (x10.4) and Liver (x4.9).

Protein differential expression in normal tissues from HIPED for XBP1 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for XBP1 Gene



Protein tissue co-expression partners for XBP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for XBP1

SOURCE GeneReport for Unigene cluster for XBP1 Gene:

Hs.437638

mRNA Expression by UniProt/SwissProt for XBP1 Gene:

P17861-XBP1_HUMAN
Tissue specificity: Expressed in plasma cells in rheumatoid synovium (PubMed:11460154). Over-expressed in primary breast cancer and metastatic breast cancer cells (PubMed:25280941). Isoform 1 and isoform 2 are expressed at higher level in proliferating as compared to confluent quiescent endothelial cells (PubMed:19416856).

Evidence on tissue expression from TISSUES for XBP1 Gene

  • Pancreas(4.6)
  • Intestine(4.3)
  • Nervous system(4.3)
  • Lung(4.2)
  • Liver(4.1)
  • Bone marrow(3.4)
  • Spleen(3.4)
  • Stomach(3.3)
  • Lymph node(3.2)
  • Kidney(3.2)
  • Heart(3.2)
  • Skin(3.2)
  • Eye(3.1)
  • Blood(3.1)
  • Muscle(3)
  • Thyroid gland(2.9)
  • Adrenal gland(2.9)
  • Gall bladder(2.4)
  • Bone(2.2)
genes like me logo Genes that share expression patterns with XBP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for XBP1 Gene

Orthologs for XBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for XBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
 Mammalia XBP1 30
  • 90.96 (n)
-- 31
  • 44 (a)
 OneToMany
-- 31
  • 29 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia XBP1 30 31
  • 90.16 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Xbp1 30
  • 86.72 (n)
Mouse
(Mus musculus)
 Mammalia Xbp1 30 17 31
  • 85.19 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia XBP1 31
  • 75 (a)
 OneToOne
Chimpanzee
(Pan troglodytes)
 Mammalia XBP1 31
  • 48 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia XBP1 31
  • 33 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves XBP1 31
  • 60 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia xbp1-prov 30
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.6630 30
Zebrafish
(Danio rerio)
 Actinopterygii xbp1 30 31
  • 26 (a)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8787 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Xbp1 31
  • 13 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea xbp-1 31
  • 19 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.4536 31
  • 19 (a)
 OneToOne
Species where no ortholog for XBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for XBP1 Gene

ENSEMBL:
Gene Tree for XBP1 (if available)
TreeFam:
Gene Tree for XBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for XBP1: view image

Paralogs for XBP1 Gene

Pseudogenes.org Pseudogenes for XBP1 Gene

genes like me logo Genes that share paralogs with XBP1: view

No data available for Paralogs for XBP1 Gene

Variants for XBP1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for XBP1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs1379560430 A breast cancer sample p.Arg232Lys
rs1601436804 Uncertain Significance: Major affective disorder 7 28,796,046(-) C/A
NM_005080.3(XBP1):c.599+1G>T 		SPLICE_DONOR
rs182389895 Likely Benign: not provided 28,797,070(-) G/T
NM_005080.3(XBP1):c.453+7C>A 		INTRON
VAR_035998 A breast cancer sample p.Asp12Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for XBP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for XBP1 Gene

Variant ID Type Subtype PubMed ID
nsv1064079 CNV gain 25217958
nsv834169 CNV loss 17160897

Variation tolerance for XBP1 Gene

Residual Variation Intolerance Score: 42.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.02; 80.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for XBP1 Gene

Human Gene Mutation Database (HGMD)
XBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XBP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XBP1 Gene

Disorders for XBP1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for XBP1 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
major affective disorder 7
  • mafd7
bipolar disorder
  • bipolar depression
fatty liver disease
  • alcoholic fatty liver
breast cancer
  • breast cancer, familial
b-cell lymphoma
  • b-cell lymphocytic neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search XBP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XBP1_HUMAN
  • Major affective disorder 7 (MAFD7) [MIM:612371]: 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. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Additional Disease Information for XBP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with XBP1: view

No data available for Genatlas for XBP1 Gene

Publications for XBP1 Gene

  1. Impaired feedback regulation of XBP1 as a genetic risk factor for bipolar disorder. (PMID: 12949534) Kakiuchi C … Kato T (Nature genetics 2003) 3 4 23 74
  2. Relationship between functional promoter polymorphism in the XBP1 gene (-116C/G) and obesity. (PMID: 18840627) Yilmaz E … Akar N (Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2010) 3 23 41
  3. Relationship between functional promoter polymorphism in the XBP1 gene (-116C/G) and atherosclerosis, ischemic stroke and hyperhomocysteinemia. (PMID: 19669932) Yilmaz E … Akar N (Molecular biology reports 2010) 3 23 41
  4. Unconventional splicing of XBP1 mRNA occurs in the cytoplasm during the mammalian unfolded protein response. (PMID: 19622636) Uemura A … Yoshida H (Journal of cell science 2009) 3 4 23
  5. Sustained activation of XBP1 splicing leads to endothelial apoptosis and atherosclerosis development in response to disturbed flow. (PMID: 19416856) Zeng L … Xu Q (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 23

ExternalLinks

View latest publications for XBP1 gene in Mastermind

Products for XBP1 Gene

  • Addgene plasmids for XBP1

Sources for XBP1 Gene