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Protein

X-box-binding protein 1

Gene

XBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity3 Publications
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 PI3K/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]N3[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).By similarity12 Publications
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).By similarity8 Publications

GO - Molecular functioni

  • chromatin DNA binding Source: UniProtKB
  • core promoter binding Source: UniProtKB
  • DNA binding Source: ProtInc
  • enhancer sequence-specific DNA binding Source: UniProtKB
  • estrogen receptor binding Source: ParkinsonsUK-UCL
  • protease binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: ParkinsonsUK-UCL
  • protein kinase binding Source: UniProtKB
  • RNA polymerase II regulatory region sequence-specific DNA binding Source: UniProtKB
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: Ensembl
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB
  • transcription regulatory region DNA binding Source: UniProtKB
  • ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Angiogenesis, Apoptosis, Autophagy, Differentiation, Lipid biosynthesis, Lipid metabolism, Myogenesis, Protein transport, Stress response, Transcription, Transcription regulation, Transport, Unfolded protein response

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100219-MONOMER.
ReactomeiR-HSA-381038. XBP1(S) activates chaperone genes.
R-HSA-381070. IRE1alpha activates chaperones.
R-HSA-381183. ATF6 (ATF6-alpha) activates chaperone genes.
SignaLinkiP17861.
SIGNORiP17861.

Names & Taxonomyi

Protein namesi
Recommended name:
X-box-binding protein 11 PublicationImported
Short name:
XBP-11 Publication
Alternative name(s):
Tax-responsive element-binding protein 51 Publication
Short name:
TREB-51 Publication
Cleaved into the following 2 chains:
X-box-binding protein 1, cytoplasmic form1 Publication
X-box-binding protein 1, luminal form1 Publication
Gene namesi
Name:XBP1Imported
Synonyms:TREB51 Publication, XBP2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:12801. XBP1.

Subcellular locationi

Isoform 1 :
  • Nucleus By similarity2 Publications
  • Cytoplasm By similarity4 Publications
  • Endoplasmic reticulum membrane 1 Publication; Single-pass type II membrane protein 1 Publication
  • Endoplasmic reticulum membrane 1 Publication; Peripheral membrane protein 1 Publication
  • Membrane 1 Publication; Peripheral membrane protein 1 Publication

  • 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).By similarity3 Publications
Isoform 2 :
  • Nucleus By similarity4 Publications
  • Cytoplasm By similarity

  • 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).By similarity
X-box-binding protein 1, cytoplasmic form :
  • Cytoplasm 1 Publication
  • Nucleus 1 Publication

  • Note: Localizes in the cytoplasm and nucleus after HM13/SPP-mediated intramembranaire proteolytic cleavage of isoform 1 (PubMed:25239945).1 Publication

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 185Cytoplasmic1 PublicationAdd BLAST185
Transmembranei186 – 203Helical; Signal-anchor for type II membrane protein1 PublicationSequence analysis1 PublicationAdd BLAST18
Topological domaini204 – 261Lumenal1 PublicationAdd BLAST58

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of endoplasmic reticulum membrane Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • nucleoplasm Source: Reactome
  • nucleus Source: LIFEdb
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Major affective disorder 7 (MAFD7)
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612371

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi189W → E: Reduces endoplasmic reticulum localization of its own mRNA; when associated with E-193 and D-196. 1 Publication1
Mutagenesisi193V → E: Reduces endoplasmic reticulum localization of its own mRNA; when associated with E-189 and D-196. 1 Publication1
Mutagenesisi194L → E: Reduces endoplasmic reticulum localization of its own mRNA; when associated with D-198 and E-205. 1 Publication1
Mutagenesisi196L → D: Reduces endoplasmic reticulum localization of its own mRNA; when associated with E-189 and E-193. 1 Publication1
Mutagenesisi197Q → L: Inhibits HM13/SPP-mediated degradation of XBP1; when associated with L-199; L-200 and L-203. 1 Publication1
Mutagenesisi198I → D: Reduces endoplasmic reticulum localization of its own mRNA; when associated with E-194 and E-205. 1 Publication1
Mutagenesisi199Q → L: Inhibits HM13/SPP-mediated degradation of XBP1; when associated with L-197; L-200 and L-203. 1 Publication1
Mutagenesisi200S → L: Inhibits HM13/SPP-mediated degradation of XBP1; when associated with L-197; L-199 and L-203. 1 Publication1
Mutagenesisi203S → L: Inhibits HM13/SPP-mediated degradation of XBP1; when associated with L-197; L-199 and L-200. 1 Publication1
Mutagenesisi205W → E: Reduces endoplasmic reticulum localization of its own mRNA; when associated with E-194 and D-198. 1 Publication1
Mutagenesisi212T → N: Does not induce glycosylation. 1 Publication1
Mutagenesisi215C → N: Induces glycosylation. 1 Publication1
Mutagenesisi232R → N: Induces glycosylation. 1 Publication1
Mutagenesisi246L → A: Reduces translational pausing, membrane targeting and cytoplasmic splicing of its own mRNA. 1 Publication1
Mutagenesisi255S → A: Increases translational pausing of its own mRNA. 1 Publication1
Mutagenesisi256W → A: Reduces translational pausing, membrane targeting and cytoplasmic splicing of its own mRNA. 1 Publication1

Keywords - Diseasei

Oncogene

Organism-specific databases

DisGeNETi7494.
MalaCardsiXBP1.
MIMi612371. phenotype.
OpenTargetsiENSG00000100219.
PharmGKBiPA37400.

Chemistry databases

ChEMBLiCHEMBL1741176.

Polymorphism and mutation databases

BioMutaiXBP1.
DMDMi60416406.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000765431 – 261X-box-binding protein 1Add BLAST261
ChainiPRO_00004318911 – 193X-box-binding protein 1, cytoplasmic form1 PublicationAdd BLAST193
ChainiPRO_0000431892196 – 261X-box-binding protein 1, luminal form1 PublicationAdd BLAST66

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei47PhosphoserineCombined sources1
Modified residuei68PhosphoserineCombined sources1

Post-translational modificationi

Isoform 2 is 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).1 Publication1 Publication
Isoform 1 is ubiquitinated, leading to proteasome-mediated degradation in response to ER stress (PubMed:11779464, PubMed:16461360, PubMed:25239945).By similarity3 Publications
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).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei194 – 195Cleavage; by HM13/SPP1 Publication2

Keywords - PTMi

Acetylation, Cleavage on pair of basic residues, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP17861.
MaxQBiP17861.
PaxDbiP17861.
PeptideAtlasiP17861.
PRIDEiP17861.

PTM databases

iPTMnetiP17861.
PhosphoSitePlusiP17861.

Expressioni

Tissue specificityi

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).3 Publications

Inductioni

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).10 Publications

Gene expression databases

BgeeiENSG00000100219.
CleanExiHS_XBP1.
ExpressionAtlasiP17861. baseline and differential.

Organism-specific databases

HPAiHPA044305.

Interactioni

Subunit structurei

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).By similarity6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ATF6P188502EBI-6942961,EBI-852157
CREBZFQ9NS372EBI-6942961,EBI-632965
HM13Q8TCT92EBI-7631279,EBI-347472

GO - Molecular functioni

  • estrogen receptor binding Source: ParkinsonsUK-UCL
  • protease binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: ParkinsonsUK-UCL
  • protein kinase binding Source: UniProtKB
  • ubiquitin protein ligase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi113331. 31 interactors.
DIPiDIP-41692N.
IntActiP17861. 11 interactors.
MINTiMINT-268152.
STRINGi9606.ENSP00000216037.

Chemistry databases

BindingDBiP17861.

Structurei

3D structure databases

ProteinModelPortaliP17861.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini70 – 133bZIPPROSITE-ProRule annotationAdd BLAST64

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni72 – 94Basic motifPROSITE-ProRule annotationAdd BLAST23
Regioni75 – 92Nuclear localization signal (NLS); in isoforms 1 and isoform 21 PublicationAdd BLAST18
Regioni98 – 133Leucine-zipperPROSITE-ProRule annotationAdd BLAST36
Regioni235 – 261Necessary for the translational pausing of its own mRNA1 PublicationAdd BLAST27

Domaini

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).By similarity5 Publications

Sequence similaritiesi

Belongs to the bZIP family.Curated
Contains 1 bZIP (basic-leucine zipper) domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4005. Eukaryota.
ENOG410XSJI. LUCA.
GeneTreeiENSGT00390000017751.
HOGENOMiHOG000007671.
HOVERGENiHBG061457.
InParanoidiP17861.
KOiK09027.
OMAiFDHIYTK.
OrthoDBiEOG091G0T4E.
PhylomeDBiP17861.
TreeFamiTF319837.

Family and domain databases

InterProiIPR004827. bZIP.
[Graphical view]
PfamiPF07716. bZIP_2. 1 hit.
[Graphical view]
SMARTiSM00338. BRLZ. 1 hit.
[Graphical view]
PROSITEiPS50217. BZIP. 1 hit.
PS00036. BZIP_BASIC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P17861-1) [UniParc]FASTAAdd to basket
Also known as: Unprocessed XBP-1Curated, XBP-1U1 Publication, XBP1u1 Publication

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVVVAAAPNP ADGTPKVLLL SGQPASAAGA PAGQALPLMV PAQRGASPEA
60 70 80 90 100
ASGGLPQARK RQRLTHLSPE EKALRRKLKN RVAAQTARDR KKARMSELEQ
110 120 130 140 150
QVVDLEEENQ KLLLENQLLR EKTHGLVVEN QELRQRLGMD ALVAEEEAEA
160 170 180 190 200
KGNEVRPVAG SAESAALRLR APLQQVQAQL SPLQNISPWI LAVLTLQIQS
210 220 230 240 250
LISCWAFWTT WTQSCSSNAL PQSLPAWRSS QRSTQKDPVP YQPPFLCQWG
260
RHQPSWKPLM N
Length:261
Mass (Da):28,695
Last modified:March 1, 2005 - v2
Checksum:iA4EF69EEE0D344A6
GO
Isoform 2 (identifier: P17861-2) [UniParc]FASTAAdd to basket
Also known as: Processed XBP-1Curated, XBP-1S1 Publication, XBP1s1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     167-261: LRLRAPLQQV...HQPSWKPLMN → GAGPVVTPPE...NELFPQLISV

Note: 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).3 Publications
Show »
Length:376
Mass (Da):40,148
Checksum:i4C1758D7BA055061
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti33 – 35GQA → AR in AAA36031 (PubMed:2321018).Curated3
Sequence conflicti130N → T in L13850 (PubMed:8349596).Curated1
Sequence conflicti196L → F in L13850 (PubMed:8349596).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03599812D → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_033023232R → K in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_012936167 – 261LRLRA…KPLMN → GAGPVVTPPEHLPMDSGGID SSDSESDILLGILDNLDPVM FFKCPSPEPASLEELPEVYP EGPSSLPASLSLSVGTSSAK LEAINELIRFDHIYTKPLVL EIPSETESQANVVVKIEEAP LSPSENDHPEFIVSVKEEPV EDDLVPELGISNLLSSSHCP KPSSCLLDAYSDCGYGGSLS PFSDMSSLLGVNHSWEDTFA NELFPQLISV in isoform 2. 1 PublicationAdd BLAST95

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M31627 mRNA. Translation: AAA36031.1.
X55543 Genomic DNA. Translation: CAA39149.1.
L13850 Genomic DNA. No translation available.
AB076383 mRNA. Translation: BAB82981.1.
AB076384 mRNA. Translation: BAB82982.1.
CR456611 mRNA. Translation: CAG30497.1.
Z93930 Genomic DNA. Translation: CAB45016.1.
BC000938 mRNA. Translation: AAH00938.1.
BC012841 mRNA. Translation: AAH12841.1.
BC015709 mRNA. Translation: AAH15709.1.
CCDSiCCDS13847.1. [P17861-1]
PIRiA36299.
RefSeqiNP_001073007.1. NM_001079539.1. [P17861-2]
NP_005071.2. NM_005080.3. [P17861-1]
UniGeneiHs.437638.

Genome annotation databases

EnsembliENST00000216037; ENSP00000216037; ENSG00000100219. [P17861-1]
ENST00000344347; ENSP00000343155; ENSG00000100219. [P17861-2]
ENST00000611155; ENSP00000481170; ENSG00000100219. [P17861-2]
GeneIDi7494.
KEGGihsa:7494.
UCSCiuc062cvg.1. human. [P17861-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M31627 mRNA. Translation: AAA36031.1.
X55543 Genomic DNA. Translation: CAA39149.1.
L13850 Genomic DNA. No translation available.
AB076383 mRNA. Translation: BAB82981.1.
AB076384 mRNA. Translation: BAB82982.1.
CR456611 mRNA. Translation: CAG30497.1.
Z93930 Genomic DNA. Translation: CAB45016.1.
BC000938 mRNA. Translation: AAH00938.1.
BC012841 mRNA. Translation: AAH12841.1.
BC015709 mRNA. Translation: AAH15709.1.
CCDSiCCDS13847.1. [P17861-1]
PIRiA36299.
RefSeqiNP_001073007.1. NM_001079539.1. [P17861-2]
NP_005071.2. NM_005080.3. [P17861-1]
UniGeneiHs.437638.

3D structure databases

ProteinModelPortaliP17861.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113331. 31 interactors.
DIPiDIP-41692N.
IntActiP17861. 11 interactors.
MINTiMINT-268152.
STRINGi9606.ENSP00000216037.

Chemistry databases

BindingDBiP17861.
ChEMBLiCHEMBL1741176.

PTM databases

iPTMnetiP17861.
PhosphoSitePlusiP17861.

Polymorphism and mutation databases

BioMutaiXBP1.
DMDMi60416406.

Proteomic databases

EPDiP17861.
MaxQBiP17861.
PaxDbiP17861.
PeptideAtlasiP17861.
PRIDEiP17861.

Protocols and materials databases

DNASUi7494.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216037; ENSP00000216037; ENSG00000100219. [P17861-1]
ENST00000344347; ENSP00000343155; ENSG00000100219. [P17861-2]
ENST00000611155; ENSP00000481170; ENSG00000100219. [P17861-2]
GeneIDi7494.
KEGGihsa:7494.
UCSCiuc062cvg.1. human. [P17861-1]

Organism-specific databases

CTDi7494.
DisGeNETi7494.
GeneCardsiXBP1.
HGNCiHGNC:12801. XBP1.
HPAiHPA044305.
MalaCardsiXBP1.
MIMi194355. gene.
612371. phenotype.
neXtProtiNX_P17861.
OpenTargetsiENSG00000100219.
PharmGKBiPA37400.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4005. Eukaryota.
ENOG410XSJI. LUCA.
GeneTreeiENSGT00390000017751.
HOGENOMiHOG000007671.
HOVERGENiHBG061457.
InParanoidiP17861.
KOiK09027.
OMAiFDHIYTK.
OrthoDBiEOG091G0T4E.
PhylomeDBiP17861.
TreeFamiTF319837.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100219-MONOMER.
ReactomeiR-HSA-381038. XBP1(S) activates chaperone genes.
R-HSA-381070. IRE1alpha activates chaperones.
R-HSA-381183. ATF6 (ATF6-alpha) activates chaperone genes.
SignaLinkiP17861.
SIGNORiP17861.

Miscellaneous databases

ChiTaRSiXBP1. human.
GeneWikiiXBP1.
GenomeRNAii7494.
PROiP17861.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100219.
CleanExiHS_XBP1.
ExpressionAtlasiP17861. baseline and differential.

Family and domain databases

InterProiIPR004827. bZIP.
[Graphical view]
PfamiPF07716. bZIP_2. 1 hit.
[Graphical view]
SMARTiSM00338. BRLZ. 1 hit.
[Graphical view]
PROSITEiPS50217. BZIP. 1 hit.
PS00036. BZIP_BASIC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiXBP1_HUMAN
AccessioniPrimary (citable) accession number: P17861
Secondary accession number(s): Q8WYK6, Q969P1, Q96BD7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: March 1, 2005
Last modified: November 30, 2016
This is version 174 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.