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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

XBP1 Gene

protein-coding GIFtS: 66
GCID: GC22M029190

X-box binding protein 1

(Previous symbol: XBP2)

Explore 68 diseases affiliated with
XBP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
X-Box Binding Protein 1¹ ²
XBP2¹ ² ³ ⁵
Tax-Responsive Element-Binding Protein 5² ³
TREB5² ³
XBP-1² ³
X-Box-Binding Protein 1²

External Ids:	HGNC: 12801¹	Entrez Gene: 7494²	Ensembl: ENSG00000100219⁷	OMIM: 194355⁵	UniProtKB: P17861³

Export aliases for XBP1 gene to outside databases

Previous GC identifers: GC22M025886 GC22M027515 GC22M012155

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for XBP1:

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)

UniProtKB/Swiss-Prot: XBP1_HUMAN, P17861

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]N(3)[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

Gene Wiki entry for XBP1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011520.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the XBP1 gene promoter:
CRE-BP1 C/EBPbeta ATF-2 ATF ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: XBP1 promoter sequence

Search SABiosciences Chromatin IP Primers for XBP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XBP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q12.1|22q12 Ensembl cytogenetic band: 22q12.1 HGNC cytogenetic band: 22q12.1

XBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XBP1 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M029190: view genomic region (about GC identifiers)

Start:	29,190,543 bp from pter	End:	29,196,585 bp from pter
Size:	6,043 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: XBP1_HUMAN, P17861 (See protein sequence)

Recommended Name: X-box-binding protein 1

Size: 261 amino acids; 28695 Da

Subcellular location: Nucleus

Secondary accessions: Q8WYK6 Q969P1 Q96BD7

Alternative splicing: 2 isoforms: P17861-1 P17861-2 (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)

Explore the universe of human proteins at neXtProt for XBP1: NX_P17861

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P17861

XBP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001073007.1 NP_005071.2

ENSEMBL proteins:

ENSP00000216037 ENSP00000385162 ENSP00000409864 ENSP00000384295 ENSP00000343155

Reactome Protein details: P17861
Human Recombinant Protein Products:

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	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate (see all 3): XBP1 OriGene Custom Protein Services for XBP1
	GenScript Custom Purified and Recombinant Proteins Services for XBP1
	Novus Biologicals XBP1 Proteins Novus Biologicals XBP1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for XBP1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--

XBP1 for ontologies About GeneDecksing

XBP1 Antibody Products:

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	Novus Biologicals XBP1 Antibodies
	Abcam antibodies for XBP1
	Uscn Antibodies for XBP1
	ThermoFisher Antibody for XBP1

Assay Products for XBP1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for XBP1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for XBP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

XBP1 for domains About GeneDecksing

1 InterPro domain/family:

IPR004827 bZIP

Graphical View of Domain Structure for InterPro Entry P17861

ProtoNet protein and cluster: P17861

UniProtKB/Swiss-Prot: XBP1_HUMAN, P17861

Similarity: Belongs to the bZIP family

Similarity: Contains 1 bZIP (basic-leucine zipper) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: XBP1_HUMAN, P17861

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]N(3)[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

Induction: Up-regulated by ATF6 via direct binding to the ERSE in response to endoplasmic reticulum stress

Genatlas biochemistry entry for XBP1:

X-box protein 1,binding HLA-DRA,HLA-DRB promoter

		10/406 SABiosciences Target genes for XBP1 (see all 406):
		ABCA3 ABCA7 ACOX3 ACVR1C ADAMTS13 AGPAT9 AHCTF1 ALG1 ALG8 ALKBH5

miRNA Products:		miRTarBase miRNAs that target XBP1: hsa-mir-127-3p (MIRT004462)

		OriGene 3'-UTR Clone (see all 2): XBP1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat XBP1
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate XBP1:
		hsa-miR-302f hsa-miR-513a-3p hsa-miR-3119 hsa-miR-33b hsa-miR-33a hsa-miR-3916 hsa-miR-3125
		SwitchGear 3'UTR luciferase reporter plasmid: XBP1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for XBP1 (see all 7) OriGene shRNA RFP: XBP1 OriGene siRNA: XBP1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat XBP1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for XBP1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for XBP1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for XBP1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): XBP1 (NM_001032221)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for XBP1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XBP1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for XBP1
		Search LifeMap BioReagents cell lines for XBP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XBP1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	TAS	1718857
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0043565	sequence-specific DNA binding	IEA	--
GO:0046983	protein dimerization activity	--	--

XBP1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for XBP1:

Decreased viability

Animal Models:
Mouse knock-outs for XBP1: Xbp1^tm1Glm Xbp1^tm1Tiw Xbp1^tm1Nogu
15/17 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Xbp1) (see all 17):

behavior/neurological	cardiovascular system	cellular	digestive/alimentary	embryogenesis
endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism	immune system
integument	liver/biliary system	mortality/aging	muscle	nervous system

XBP1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Activation of Chaperone Genes by ATF6-alpha

	Activation of Chaperone Genes by ATF6-alpha	1.00			Translation and translocation of XBP1(S) to the Nucleus	0.20
	Activation of Chaperones by ATF6-alpha	0.62			Expression of Xbp1(S)	0.20

Activation of Chaperone Genes by XBP1(S)

Activation of Chaperones by IRE1alpha

0.94

Unfolded Protein Response

0.71

Insulin Signaling

Insulin Signaling

1.00

FOXA1 transcription factor network

FOXA1 transcription factor network

1.00

Protein processing in endoplasmic reticulum

Protein processing in endoplasmic reticulum

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for XBP1

	Insulin Signaling
	FOXA1 transcription factor network

5/7 Reactome Pathways for XBP1 (see all 7)

	Activation of Chaperones by ATF6-alpha
	Metabolism of proteins
	Activation of Chaperone Genes by ATF6-alpha
	Activation of Chaperones by IRE1alpha
	Expression of Xbp1(S)

1 Kegg Pathway (Kegg details for XBP1):

Protein processing in endoplasmic reticulum

XBP1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for XBP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/33 Interacting proteins for XBP1 (P17861^{2, 3} ENSP00000216037⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PSMA5	P28066²^,³, ENSP00000271308⁴	MINT-7302163 I2D: score=1 STRING: ENSP00000271308
PSMA6	P60900²^,³, ENSP00000261479⁴	MINT-7302186 I2D: score=1 STRING: ENSP00000261479
SSX4	O60224³, ENSP00000366083⁴	I2D: score=1 STRING: ENSP00000366083
SRSF1	Q07955³, ENSP00000258962⁴	I2D: score=1 STRING: ENSP00000258962
SSX4B	O60224³	I2D: score=1

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002070	epithelial cell maturation	--	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006366	transcription from RNA polymerase II promoter	IEA	--
GO:0006955	immune response	TAS	1718857
GO:0006987	activation of signaling protein activity involved in unfolded protein response	TAS	--

XBP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

XBP1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for XBP1
10/19 Novoseek chemical compound relationships for XBP1 gene (see all 19) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tunicamycin	75.9	8	19412428 (1), 18477628 (1), 19302790 (1), 18287238 (1) (see all 7)
thapsigargin	63.6	7	18266951 (1), 18477628 (1), 18771604 (1), 16364319 (1) (see all 5)
2-methoxyestradiol	56.8	3	17257674 (2)
cdp choline	46.3	7	19420237 (1)
2-deoxyglucose	44	1	20003459 (1)
valproate	30.8	1	12949534 (1)
palmitate	29.5	3	16601139 (1), 20206402 (1), 19478146 (1)
estrogen	24.5	12	17660348 (3), 12958656 (1), 15351732 (1), 15597897 (1) (see all 7)
leucine	22.6	3	7608116 (1), 18287238 (1), 15936220 (1)
lithium	12.6	3	15927087 (2), 15836800 (1)

Search CenterWatch for drugs/clinical trials and news about XBP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for XBP1 gene (2 alternative transcripts):

NM_001079539.1 NM_005080.3

Unigene Cluster for XBP1:

X-box binding protein 1

Hs.437638 [show with all ESTs]

Unigene Representative Sequence: AK093842

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000216037(uc021wnp.1) ENST00000403532 ENST00000484256(uc003aec.3)

ENST00000415306 ENST00000405219 ENST00000344347 ENST00000482720

miRNA Products:		OriGene 3'-UTR Clone (see all 2): XBP1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat XBP1
		7 QIAGEN miScript miRNA Assays for microRNAs that regulate XBP1:
		hsa-miR-302f hsa-miR-513a-3p hsa-miR-3119 hsa-miR-33b hsa-miR-33a hsa-miR-3916 hsa-miR-3125
		SwitchGear 3'UTR luciferase reporter plasmid: XBP1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for XBP1 (see all 7) OriGene shRNA RFP: XBP1 OriGene siRNA: XBP1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat XBP1

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XBP1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XBP1

Additional cDNA sequence:

AB076383.1 AB076384.1 AK093842.1 AK292188.1 AK313761.1 BC000938.1 BC012841.1 BC015709.1

CR456611.1 M31627.1

24/39 DOTS entries (see all 39):

DT.95200416 DT.97768015 DT.453400 DT.100890065 DT.95247259 DT.100890079 DT.95247456 DT.420045

DT.100833925 DT.100890066 DT.100890063 DT.100890057 DT.100681205 DT.100890062 DT.100890083 DT.100890080

DT.100890087 DT.429997 DT.97855250 DT.95366361 DT.100890047 DT.100890071 DT.420044 DT.100890090

24/1012 AceView cDNA sequences (see all 1012):

BM509367 AW512178 BU627013 AW468595 AW874017 BQ215842 AA302487 AA369981

AW273423 BM825293 CB853965 BE049490 BQ778440 AI758814 BU956247 BF875002

N89709 AA738114 AI565465 CA941668 BU517230 AW513811 AW779016 AI299174

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for XBP1 About this scheme

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

ECgene alternative splicing isoforms for XBP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

XBP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAATTAAAAG

About this image

XBP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Paraxial Mesoderm Cells

Bone, Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Midbrain dopaminergic-like neurons (Generation of midbra...)

See XBP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for XBP1

SOURCE GeneReport for Unigene cluster: Hs.437638

SABiosciences Expression via Pathway-Focused PCR Arrays including XBP1 (see all 6):

Estrogen Receptor Signaling in human mouse rat

Breast Cancer in human mouse rat

Fatty Liver in human mouse rat

Unfolded Protein Response in human mouse rat

Stress & Toxicity PathwayFinder in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for XBP1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XBP1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XBP1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XBP1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for XBP1 gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Xbp1^{1 , 5}	X-box binding protein 1^{1, 5}	86.48(n)¹ 83.07(a)¹		11 (3.61 cM)⁵ 22433¹ NM_013842.2¹ NP_038870.2¹ 5520659⁵
chicken (Gallus gallus)	Aves	XBP1¹	X-box binding protein 1	69.82(n) 65.43(a)		416918 NM_001006192.2 NP_001006192.2
African clawed frog (Xenopus laevis)	Amphibia	xbp1-prov²	X-box binding protein 1	76.01(n)		BC043852.1
zebrafish (Danio rerio)	Actinopterygii	xbp1²	X-box binding protein 1	78.69(n)		140614 AY237651.1
fruit fly (Drosophila melanogaster)	Insecta	Xbp1⁶	X box binding protein-1	11(a)	1 ↔ 1	2R(17031050-17033255)
worm (Caenorhabditis elegans)	Secernentea	xbp-1⁶	X-box Binding Protein homolog family member (xbp-1...	18(a)	1 ↔ 1	III(4193795-4195330)

ENSEMBL Gene Tree for XBP1 (if available)
TreeFam Gene Tree for XBP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for XBP1 gene

XBP1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for XBP1
PGOHUM00000235731

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs56058284^1,2		--	12155467(+)	`CTGCAC/TTGTAC`	2	--	ut3¹		0	--	--	--	--
rs34731735^1,2	C,F,	--	12155552(-)	`AATGCT/CTGATG`	2	--	ut3¹		5		MN	400
rs14963^1,2	C	--	12155558(-)	`TATGTA/GAATGC`	2	--	ut3¹ ese³		6		MN	588
rs80010340^1,2	C,F,	--	12155834(+)	`ATCTTA/GAAAGC`	2	--	ut3¹		1		WA	118
rs1064181^1,2	H	--	12156173(-)	`CCCTTT/CCCCCA`	3	/P /S	mis¹ ut3¹ trp³		5		MN NS EA	590
rs74741032^1,2		--	12156691(+)	`AATCTA/TACTGG`	2	--	int¹		0	--	--	--	--
rs34842534^1,2	C,F,	--	12156813(-)	`CCTTCC/TTAGTT`	2	--	int¹		5		MN	408
rs35873774^1,2	C,F,	--	12156847(-)	`AGTTTT/CTGGTG`	2	--	int¹		6		MN NA	528
rs5752800^1,2	C,F,H	--	12157200(+)	`AGATTC/TTAGGG`	2	--	int¹		10		NS EA NA	1550
rs35771921^1,2	C,F,	--	12157370(-)	`AAGTCC/TTCAAG`	2	--	int¹		5		MN	408

HapMap Linkage Disequilibrium report for XBP1 (29190543 - 29196585 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for XBP1: --
Human Gene Mutation Database (HGMD): XBP1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing XBP1

DNA2.0 Custom Variant and Variant Library Synthesis for XBP1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

XBP1 for disorders           About GeneDecksing

OMIM gene information: 194355
OMIM disorders: 612371
UniProtKB/Swiss-Prot: XBP1_HUMAN, P17861

Genetic variations in XBP1 could be associated with susceptibility to major affective disorder type 7 (MAFD7)

[MIM:612371]. Major affective disorders represent a class of mental disorders characterized by a disturbance in mood

as their predominant feature

20/68 diseases for XBP1 (see all 68): About MalaCards

major affective disorder-7 major affective disorder otitis media diffuse large b-cell lymphoma

amyotrophic lateral sclerosis leukemia b-cell lymphomas common variable immunodeficiency

waldenstrom macroglobulinemia inflammatory bowel disease lateral sclerosis cavernous hemangioma

corneal neovascularization primary effusion lymphoma idiopathic pulmonary fibrosis bipolar i disorder

plasmacytoma fatty liver disease macroglobulinemia bipolar disorder

1 disease from the University of Copenhagen DISEASES database for XBP1:

Multiple myeloma

10/21 Novoseek disease relationships for XBP1 gene (see all 21) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bipolar disorder	57.8	18	12949534 (4), 15331160 (2), 15927087 (1), 16154272 (1) (see all 12)
myeloma	44.5	13	16532968 (3), 17257674 (2), 12902539 (2), 18069259 (1) (see all 6)
lymphoma b-cell	42.2	9	19380033 (5), 19389935 (4)
plasmacytoma	25.1	2	12925741 (1), 17709512 (1)
breast cancer	23.8	20	17660348 (4), 18386815 (3), 14634507 (2), 15487507 (2) (see all 8)
cancer	23.2	5	17352224 (2), 19609461 (1), 15270080 (1)
colon cancer	22.3	3	17352224 (2)
leukemia t-cell	21.3	1	7608116 (1)
shock	18	4	17563070 (1), 17932454 (1), 17906960 (1)
neurodegenerative diseases	17.2	1	17170705 (1)

Genetic Association Database (GAD): XBP1
Human Genome Epidemiology (HuGE) Navigator: XBP1 (25 documents)

Export disorders for XBP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for XBP1 gene, integrated from 9 sources (see all 318):
(articles sorted by number of sources associating them with XBP1)

Utopia: connect your pdf to the dynamic
world of online information

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. (PubMed id 2196176)^{1, 2, 3} Yoshimura T....Yoshida M. (1990)
Impaired feedback regulation of XBP1 as a genetic risk factor for bipolar disorder. (PubMed id 12949534)^{1, 2, 9} Kakiuchi C....Kato T. (2003)
The X-box binding protein 1 (XBP1) gene is not associated with methamphetamine dependence. (PubMed id 15936534)^{1, 4, 9} Morita Y....Ozaki N. (2005)
Relationship between XBP1 genotype and personality traits assessed by TCI and NEO-FFI. (PubMed id 16154272)^{1, 4, 9} Kusumi I....Koyama T. (2005)
A possible association between the -116C/G single nucleotide polymorphism of the XBP1 gene and lithium prophylaxis in bipolar disorder. (PubMed id 15927087)^{1, 4, 9} Masui T....Koyama T. (2006)
Lack of association between XBP1 genotype and calcium signaling in the platelets of healthy subjects. (PubMed id 15380296)^{1, 4, 9} Kusumi I....Koyama T. (2004)
X-box binding protein 1 (XBP1) C--116G polymorphisms in bipolar disorders and age of onset. (PubMed id 15331160)^{1, 4, 9} Hou S.J....Hong C.J. (2004)
XBP1 gene polymorphism (-116C/G) and personality. (PubMed id 15892135)^{1, 4, 9} Kato C....Sasaki T. (2005)
Association of the XBP1-116C/G polymorphism with schizophrenia in the Japanese population. (PubMed id 15298659)^{1, 4} Kakiuchi C....Kato T. (2004)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7494	HGNC: 12801	AceView: XBP1	Ensembl:ENSG00000100219	euGenes: HUgn7494
ECgene: XBP1	Kegg: 7494	H-InvDB: XBP1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for XBP1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for XBP1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for XBP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for XBP1 gene:
Search GeneIP for patents involving XBP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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