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XBP1 Gene

protein-coding   GIFtS: 67
GCID: GC22M029190

X-Box Binding Protein 1


(Previous symbol: XBP2)
  See XBP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cavernous hemangioma. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   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 plasmidXBP1 promoter sequence
   Search Chromatin IP Primers for XBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: XBP1_HUMAN, P17861 (See protein sequence)
Recommended Name: X-box-binding protein 1  
Size: 261 amino acids; 28695 Da
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

Explore proteomics data for XBP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys236
  • Modification sites at PhosphoSitePlus

  • See XBP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001073007.1  NP_005071.2  

    ENSEMBL proteins: 
     ENSP00000216037   ENSP00000385162   ENSP00000384295   ENSP00000343155  
    Reactome Protein details: P17861

    XBP1 Human Recombinant Protein Products:

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    Novus Biologicals XBP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for XBP1

     
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    antibodies-online proteins for XBP1 (4 products) 

     
    antibodies-online peptides for XBP1

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    XBP1 Assay Products:

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    Cloud-Clone Corp. ELISAs for XBP1
    Cloud-Clone Corp. CLIAs for XBP1
    Search eBioscience for ELISAs for XBP1 
    antibodies-online kits for XBP1 (24 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bZIP: basic leucine zipper proteins

    1 InterPro protein domain:
     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


    Find genes that share domains with XBP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS1718857
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with XBP1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for XBP1:
     Decreased viability 

         Selected 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/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  muscle  nervous system 

    Find genes that share phenotypes with XBP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for XBP1: Xbp1tm1Glm Xbp1tm1Tiw Xbp1tm1Nogu

       genOway: Develop your customized and physiologically relevant rodent model for XBP1

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for XBP1 (see all 390):
    ABCA3,  ABCA7,  ACOX3,  ACVR1C,  ADAMTS13,  AGPAT9,  AHCTF1,  ALG1,  ALG8,  ALKBH5

    miRNA
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    miRTarBase miRNAs that target XBP1:
    hsa-mir-320a (MIRT044687), hsa-mir-124-3p (MIRT022880), hsa-mir-214-3p (MIRT006375), hsa-mir-127-3p (MIRT004462), hsa-mir-93-5p (MIRT048823), hsa-mir-625-3p (MIRT037784)

    Block miRNA regulation of human, mouse, rat XBP1 using miScript Target Protectors
    7 qRT-PCR 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 plasmidXBP1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for XBP1
    Predesigned siRNA for gene silencing in human, mouse, rat XBP1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): XBP1 (NM_001032221)
    Sino Biological Human cDNA Clone for XBP1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XBP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XBP1

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    eBioscience FlowRNA Probe Sets ( VA1-10174) for XBP1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    XBP1_HUMAN, P17861: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    endoplasmic reticulum4
    cytosol1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--

    Find genes that share ontologies with XBP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for XBP1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperones by ATF6-alpha0.00
    Activation of Chaperones by IRE1alpha0.61
    Activation of Chaperone Genes by ATF6-alpha0.00
    Activation of Chaperone Genes by XBP1(S)0.59
    2Translational Control
    Translational Control
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Non-alcoholic fatty liver disease (NAFLD)0.41
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    5Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum


    Find genes that share SuperPaths with XBP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for XBP1
        Translational Control

    2 BioSystems Pathways for XBP1
        Insulin Signaling
    FOXA1 transcription factor network


    3 Reactome Pathways for XBP1
        XBP1(S) activates chaperone genes
    IRE1alpha activates chaperones
    ATF6-alpha activates chaperone genes


    3 Kegg Pathways  (Kegg details for XBP1):
        Protein processing in endoplasmic reticulum
    Non-alcoholic fatty liver disease (NAFLD)
    HTLV-I infection

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for XBP1

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

    Selected Interacting proteins for XBP1 (P178612, 3 ENSP000002160374) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    ENSG00000223952P013753I2D: score=1 
    ENSG00000228321P013753I2D: score=1 
    ENSG00000228849P013753I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002070epithelial cell maturation ----
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter IEA--
    GO:0006955immune response TAS1718857
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--

    Find genes that share ontologies with XBP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for XBP1

    Selected Novoseek inferred 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)



    Find genes that share compounds with XBP1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216037(uc021wnp.1) ENST00000403532 ENST00000484256(uc003aec.3)
    ENST00000405219 ENST00000344347 ENST00000482720
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    SwitchGear 3'UTR luciferase reporter plasmidXBP1 3' UTR sequence
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    Additional mRNA sequence: 

    AB076383.1 AB076384.1 AK093842.1 AK292188.1 AK313761.1 BC000938.1 BC012841.1 BC015709.1 
    CR456611.1 M31627.1 

    Selected 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 

    Selected AceView cDNA sequences (see all 1012):

    BM509367 AW512178 BU627013 AW468595 AW874017 AA302487 BQ215842 AA369981 
    AW273423 BM825293 CB853965 BE049490 BQ778440 AI758814 BU956247 BF875002 
    AA738114 N89709 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    XBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATTAAAAG
    XBP1 Expression
    About this image


    XBP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Liver (Hepatobiliary System)
             Hepatoblasts Liver Bud
     
     Epithelial Cells
             Hepatoblasts Liver Bud
     
     Neurons
             Midbrain dopaminergic-like neurons
     
     Brain (Nervous System)
             Midbrain dopaminergic-like neurons
     
     Bone (Muscoskeletal System)
             Bone Marrow
    XBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    XBP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437638
        Pathway & Disease-focused RT2 Profiler 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
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for XBP1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xbp11 , 5 X-box binding protein 11, 5 85.19(n)1
    86.18(a)1
      11 (3.61 cM)5
    224331  NM_001271730.11  NP_001258659.11 
     55206595 
    chicken
    (Gallus gallus)
    Aves XBP16
    Gallus gallus X-box binding protein 1 (XBP1), mRNA...
    60(a)
    1 ↔ 1
    15(7713031-7716156)
    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
    13(a)
    1 ↔ 1
    2R(17031050-17033255)
    worm
    (Caenorhabditis elegans)
    Secernentea xbp-16
    Protein XBP-1, isoform a
    19(a)
    1 ↔ 1
    III(4193821-4195356) WBGene00006959


    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)
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    Paralogs for XBP1 gene

    Find genes that share paralogs with XBP1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for XBP1
    PGOHUM00000235731


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for XBP1 (see all 189)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359984
    A breast cancer sample4--see VAR_0359982 D V mis40--------
    VAR_0330234
    A breast cancer sample4--see VAR_0330232 R K mis40--------
    rs1470187311,2
    --13111910(+) TGATGA/GTGTGT 2 -- ds50010--------
    rs1886143941,2
    --13111914(+) GGTGTA/GTCCTT 2 -- ds50010--------
    rs1932561431,2
    --13111949(+) GCAAAC/TAGTGG 2 -- ds50010--------
    rs1476474351,2
    C--13112124(+) AAAAGC/TGTTAG 2 -- ds50010--------
    rs346652581,2
    C,F--13112131(-) AGTGAG/ACCTAA 2 -- ds50015Minor allele frequency- A:0.01MN 404
    rs22671311,2
    C,F,O,H--13112150(+) ATTAAT/CTCCTA 2 -- ds500128Minor allele frequency- C:0.16EA NS NA MN WA 3778
    rs1118830611,2
    C--13112225(+) AGGATG/TCTGCA 2 -- ds50010--------
    rs560582841,2
    F--13112231(+) CTGCAC/TTGTAC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for XBP1 (29190543 - 29196585 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for XBP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834169CNV Loss17160897

    Human Gene Mutation Database (HGMD): XBP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 194355   
    OMIM disorders: 612371  
    UniProtKB/Swiss-Prot: XBP1_HUMAN, P17861
  • 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

  • 6 diseases for XBP1:    
    About MalaCards
    major affective disorder-7    cavernous hemangioma    primary effusion lymphoma    bipolar disorder
    amyotrophic lateral sclerosis    schizophrenia

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

    Find genes that share disorders with XBP1           About GenesLikeMe

    Selected Novoseek inferred 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)
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    PubMed articles for XBP1 gene, integrated from 10 sources (see all 334):
    (articles sorted by number of sources associating them with XBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (EMBO J. 1990)
    2. Impaired feedback regulation of XBP1 as a genetic risk factor for bipolar disorder. (PubMed id 12949534)1, 2, 9 Kakiuchi C....Kato T. (Nat. Genet. 2003)
    3. Relationship between functional promoter polymorphism in the XBP1 gene (-116C/G) and atherosclerosis, ischemic stroke and hyperhomocysteinemia. (PubMed id 19669932)1, 4, 9 Yilmaz E....Akar N. (Mol. Biol. Rep. 2010)
    4. The X-box binding protein 1 (XBP1) gene is not associated with methamphetamine dependence. (PubMed id 15936534)1, 4, 9 Morita Y....Ozaki N. (Neurosci. Lett. 2005)
    5. Genetic variation of promoter sequence modulates XBP1 expression and genetic risk for vitiligo. (PubMed id 19543371)1, 4, 9 Ren Y....Zhang X. (PLoS Genet. 2009)
    6. Lack of evidence of a role of XBP1 and PRDM1 polymorphisms in Spanish patients with immunoglobulin A deficiency. (PubMed id 19735688)1, 4, 9 del Pozo N....NA_A+ez C. (Hum. Immunol. 2009)
    7. Association of X-box binding protein 1 ( XBP1) genotype with morning cortisol and 1-year clinical course after a major depressive episode. (PubMed id 19154631)1, 4, 9 Grunebaum M.F....Mann J.J. (Int. J. Neuropsychopharmacol. 2009)
    8. Relationship between XBP1 genotype and personality traits assessed by TCI and NEO-FFI. (PubMed id 16154272)1, 4, 9 Kusumi I....Koyama T. (Neurosci. Lett. 2005)
    9. Association study of a functional promoter polymorphism in the XBP1 gene and schizophrenia. (PubMed id 16342282)1, 4, 9 JAPnsson E.G....NAPthen M.M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006)
    10. 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. (Int. J. Neuropsychopharmacol. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 7494 HGNC: 12801 AceView: XBP1 Ensembl:ENSG00000100219 euGenes: HUgn7494
    ECgene: XBP1 Kegg: 7494 H-InvDB: XBP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for XBP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for XBP1 Genetics and Cytogenetics in Oncology and Haematology

    (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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