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P17861 (XBP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 144. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
X-box-binding protein 1

Short name=XBP-1
Alternative name(s):
Tax-responsive element-binding protein 5
Gene names
Name:XBP1
Synonyms:TREB5, XBP2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length261 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Transcription factor essential for hepatocyte growth, the differentiation of plasma cells, the immunoglobulin secretion, and the unfolded protein response (UPR). Acts during endoplasmic reticulum stress (ER) by activating unfolded protein response (UPR) target genes via direct binding to the UPR element (UPRE). Binds DNA preferably to the CRE-like element 5'-GATGACGTG[TG]N3[AT]T-3', and also to some TPA response elements (TRE). Binds to the HLA DR-alpha promoter. Binds to the Tax-responsive element (TRE) of HTLV-I. Ref.1 Ref.2 Ref.3 Ref.4 Ref.8

Subcellular location

Nucleus.

Induction

Up-regulated by ATF6 via direct binding to the ERSE in response to endoplasmic reticulum stress. Ref.4

Involvement in disease

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 variations affecting the gene represented in this entry.

Sequence similarities

Belongs to the bZIP family.

Contains 1 bZIP (basic-leucine zipper) domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactivation of signaling protein activity involved in unfolded protein response

Traceable author statement. Source: Reactome

cellular protein metabolic process

Traceable author statement. Source: Reactome

cellular response to antibiotic

Inferred from electronic annotation. Source: Ensembl

endoplasmic reticulum unfolded protein response

Traceable author statement. Source: Reactome

epithelial cell maturation involved in salivary gland development

Inferred from electronic annotation. Source: Ensembl

exocrine pancreas development

Inferred from electronic annotation. Source: Ensembl

immune response

Traceable author statement PubMed 1718857. Source: ProtInc

positive regulation of endoplasmic reticulum unfolded protein response

Inferred from mutant phenotype PubMed 16645094. Source: UniProtKB

response to drug

Inferred from electronic annotation. Source: Ensembl

response to electrical stimulus

Inferred from electronic annotation. Source: Ensembl

serotonin secretion, neurotransmission

Inferred from electronic annotation. Source: Ensembl

transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay. Source: LIFEdb

   Molecular_functionDNA binding

Traceable author statement PubMed 1718857. Source: ProtInc

sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding transcription factor activity

Traceable author statement PubMed 1718857Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P17861-1)

Also known as: XBP-1U;

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.
Isoform 2 (identifier: P17861-2)

Also known as: XBP-1S;

The sequence of this isoform differs from the canonical sequence as follows:
     167-261: LRLRAPLQQV...HQPSWKPLMN → GAGPVVTPPE...NELFPQLISV
Note: Potent transcriptional activator. Induced by ERN1 in response to endoplasmic reticulum stress. ENR1 cleaves a 26-bp fragment causing a frameshift of the mRNA transcript.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 261261X-box-binding protein 1
PRO_0000076543

Regions

Domain70 – 13364bZIP
Region72 – 9423Basic motif By similarity
Region98 – 13336Leucine-zipper By similarity

Natural variations

Alternative sequence167 – 26195LRLRA…KPLMN → GAGPVVTPPEHLPMDSGGID SSDSESDILLGILDNLDPVM FFKCPSPEPASLEELPEVYP EGPSSLPASLSLSVGTSSAK LEAINELIRFDHIYTKPLVL EIPSETESQANVVVKIEEAP LSPSENDHPEFIVSVKEEPV EDDLVPELGISNLLSSSHCP KPSSCLLDAYSDCGYGGSLS PFSDMSSLLGVNHSWEDTFA NELFPQLISV in isoform 2.
VSP_012936
Natural variant121D → V in a breast cancer sample; somatic mutation. Ref.10
VAR_035998
Natural variant2321R → K in a breast cancer sample; somatic mutation. Ref.11
VAR_033023

Experimental info

Sequence conflict33 – 353GQA → AR in AAA36031. Ref.1
Sequence conflict1301N → T in L13850. Ref.3
Sequence conflict1961L → F in L13850. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (XBP-1U) [UniParc].

Last modified March 1, 2005. Version 2.
Checksum: A4EF69EEE0D344A6

FASTA26128,695
        10         20         30         40         50         60 
MVVVAAAPNP ADGTPKVLLL SGQPASAAGA PAGQALPLMV PAQRGASPEA ASGGLPQARK 

        70         80         90        100        110        120 
RQRLTHLSPE EKALRRKLKN RVAAQTARDR KKARMSELEQ QVVDLEEENQ KLLLENQLLR 

       130        140        150        160        170        180 
EKTHGLVVEN QELRQRLGMD ALVAEEEAEA KGNEVRPVAG SAESAALRLR APLQQVQAQL 

       190        200        210        220        230        240 
SPLQNISPWI LAVLTLQIQS LISCWAFWTT WTQSCSSNAL PQSLPAWRSS QRSTQKDPVP 

       250        260 
YQPPFLCQWG RHQPSWKPLM N 

« Hide

Isoform 2 (XBP-1S) [UniParc].

Checksum: 4C1758D7BA055061
Show »

FASTA37640,148

References

« Hide 'large scale' references
[1]"A new member of the leucine zipper class of proteins that binds to the HLA DR alpha promoter."
Liou H.-C., Boothby M.R., Finn P.W., Davidon R., Nabavi N., Zeleznik-Le N.J., Ting J.P.-Y., Glimcher L.H.
Science 247:1581-1584(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
[2]"Multiple cDNA clones encoding nuclear proteins that bind to the tax-dependent enhancer of HTLV-1: all contain a leucine zipper structure and basic amino acid domain."
Yoshimura T., Fujisawa J., Yoshida M.
EMBO J. 9:2537-2542(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
[3]"The regulatory gene, hXBP-1, and its target, HLA-DRA, utilize both common and distinct regulatory elements and protein complexes."
Ponath P.D., Fass D., Liou H.C., Glimcher L.H., Strominger J.L.
J. Biol. Chem. 268:17074-17082(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION.
[4]"XBP1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factor."
Yoshida H., Matsui T., Yamamoto A., Okada T., Mori K.
Cell 107:881-891(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INDUCTION, FUNCTION.
[5]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Ovary and Placenta.
[8]"The basic domain/leucine zipper protein hXBP-1 preferentially binds to and transactivates CRE-like sequences containing an ACGT core."
Clauss I.M., Chu M., Zhao J.-L., Glimcher L.H.
Nucleic Acids Res. 24:1855-1864(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[9]"Impaired feedback regulation of XBP1 as a genetic risk factor for bipolar disorder."
Kakiuchi C., Iwamoto K., Ishiwata M., Bundo M., Kasahara T., Kusumi I., Tsujita T., Okazaki Y., Nanko S., Kunugi H., Sasaki T., Kato T.
Nat. Genet. 35:171-175(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO MAJOR AFFECTIVE DISORDER TYPE 7.
[10]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-12.
[11]"Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas."
Chanock S.J., Burdett L., Yeager M., Llaca V., Langeroed A., Presswalla S., Kaaresen R., Strausberg R.L., Gerhard D.S., Kristensen V., Perou C.M., Boerresen-Dale A.-L.
Breast Cancer Res. 9:R5-R5(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LYS-232.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRA36299.
RefSeqNP_001073007.1. NM_001079539.1.
NP_005071.2. NM_005080.3.
UniGeneHs.437638.

3D structure databases

ProteinModelPortalP17861.
SMRP17861. Positions 71-133.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113331. 25 interactions.
IntActP17861. 4 interactions.
MINTMINT-268152.
STRING9606.ENSP00000216037.

Chemistry

BindingDBP17861.
ChEMBLCHEMBL1741176.

PTM databases

PhosphoSiteP17861.

Polymorphism databases

DMDM60416406.

Proteomic databases

PaxDbP17861.
PRIDEP17861.

Protocols and materials databases

DNASU7494.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000216037; ENSP00000216037; ENSG00000100219. [P17861-1]
ENST00000344347; ENSP00000343155; ENSG00000100219. [P17861-2]
GeneID7494.
KEGGhsa:7494.
UCSCuc003aec.3. human. [P17861-2]

Organism-specific databases

CTD7494.
GeneCardsGC22M029190.
HGNCHGNC:12801. XBP1.
HPAHPA044305.
MIM194355. gene.
612371. phenotype.
neXtProtNX_P17861.
PharmGKBPA37400.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG285368.
HOGENOMHOG000007671.
HOVERGENHBG061457.
KOK09027.
OMAFDHIYTK.
OrthoDBEOG74BJVQ.
PhylomeDBP17861.
TreeFamTF319837.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
SignaLinkP17861.

Gene expression databases

ArrayExpressP17861.
BgeeP17861.
CleanExHS_XBP1.
GenevestigatorP17861.

Family and domain databases

InterProIPR004827. bZIP.
[Graphical view]
PfamPF07716. bZIP_2. 1 hit.
[Graphical view]
SMARTSM00338. BRLZ. 1 hit.
[Graphical view]
PROSITEPS50217. BZIP. 1 hit.
PS00036. BZIP_BASIC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiXBP1.
GenomeRNAi7494.
NextBio29352.
PROP17861.
SOURCESearch...

Entry information

Entry nameXBP1_HUMAN
AccessionPrimary (citable) accession number: P17861
Secondary accession number(s): Q8WYK6, Q969P1, Q96BD7
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: March 1, 2005
Last modified: April 16, 2014
This is version 144 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM