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    XBP1 X-box binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 7494, updated on 7-Feb-2016
    Official Symbol
    XBP1provided by HGNC
    Official Full Name
    X-box binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:12801
    See related
    Ensembl:ENSG00000100219; HPRD:01908; MIM:194355; Vega:OTTHUMG00000151094
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    XBP2; TREB5; XBP-1; TREB-5
    Summary
    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]
    Orthologs
    See XBP1 in Epigenomics, MapViewer
    Location:
    22q12.1; 22q12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (28794560..28800572, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29190548..29196560, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene HscB mitochondrial iron-sulfur cluster co-chaperone Neighboring gene coiled-coil domain containing 117 Neighboring gene zinc and ring finger 3 Neighboring gene chromosome 9 open reading frame 16 pseudogene Neighboring gene ZNRF3 antisense RNA 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Major affective disorder 7
    MedGen: C2700438 OMIM: 612371 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    NHGRI GWA Catalog
    Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Neurons exposed to HIV-1 Tat induces calcium loss from the endoplasmic reticulum via ryanodine receptor (RyR) and increases the phosphorylated levels of PERK, eIF2a, and XBP1 PubMed

    Go to the HIV-1, Human Interaction Database

    • ATF6-alpha activates chaperone genes, organism-specific biosystem (from REACTOME)
      ATF6-alpha activates chaperone genes, organism-specific biosystemThe N-terminal fragment of ATF6-alpha contains a bZIP domain and binds the sequence CCACG in ER Stress Response Elements (ERSEs). ATF6-alpha binds ERSEs together with the heterotrimeric transcription...
    • ATF6-alpha activates chaperones, organism-specific biosystem (from REACTOME)
      ATF6-alpha activates chaperones, organism-specific biosystemATF6-alpha is a transmembrane protein that normally resides in the Endoplasmic Reticulum (ER) membrane. Here its luminal C-terminal domain is associated with BiP, shielding 2 Golgi-targeting regions ...
    • FOXA1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      FOXA1 transcription factor network, organism-specific biosystem
      FOXA1 transcription factor network
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • IRE1alpha activates chaperones, organism-specific biosystem (from REACTOME)
      IRE1alpha activates chaperones, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
    • Insulin Signaling, organism-specific biosystem (from WikiPathways)
      Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystem (from KEGG)
      Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
    • Non-alcoholic fatty liver disease (NAFLD), conserved biosystem (from KEGG)
      Non-alcoholic fatty liver disease (NAFLD), conserved biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Unfolded Protein Response (UPR), organism-specific biosystem (from REACTOME)
      Unfolded Protein Response (UPR), organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
    • XBP1(S) activates chaperone genes, organism-specific biosystem (from REACTOME)
      XBP1(S) activates chaperone genes, organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    RNA polymerase II regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    core promoter binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enhancer sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    estrogen receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    histone deacetylase binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol 3-kinase regulatory subunit binding IEA
    Inferred from Electronic Annotation
    more info
     
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein heterodimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein homodimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ATF6-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
     
    IRE1-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
    PubMed 
    adipose tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular response to amino acid stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to fluid shear stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to fructose stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to glucose starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to glucose stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to insulin stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to interleukin-4 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to laminar fluid shear stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to nutrient ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to peptide hormone stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to vascular endothelial growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular triglyceride homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum unfolded protein response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum unfolded protein response TAS
    Traceable Author Statement
    more info
     
    endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epithelial cell maturation involved in salivary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    exocrine pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    fatty acid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    fatty acid homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IEA
    Inferred from Electronic Annotation
    more info
     
    liver development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endoplasmic reticulum unfolded protein response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of myotube differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    organelle organization TAS
    Traceable Author Statement
    more info
    PubMed 
    phosphatidylinositol 3-kinase signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of B cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ER-associated ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of MHC class II biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of T cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of autophagy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of endoplasmic reticulum unfolded protein response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of endothelial cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of hepatocyte proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of histone methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of immunoglobulin production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of immunoglobulin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of interleukin-6 secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of lactation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of phospholipid biosynthetic process by positive regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of plasma cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of proteasomal protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription factor import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein destabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of protein stability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to endoplasmic reticulum stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to insulin-like growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vascular endothelial growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    X-box-binding protein 1
    Names
    tax-responsive element-binding protein 5

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012266.1 RefSeqGene

      Range
      5001..11013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001079539.1NP_001073007.1  X-box-binding protein 1 isoform XBP1(S)

      See identical proteins and their annotated locations for NP_001073007.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a 26 nt segment in the CDS compared to variant 1, that causes a frameshift. The resulting isoform, XBP1(S), has the same N-terminus, but a longer and distinct C-terminus compared to isoform XBP1(U). Isoform XBP1(S) functions as a transcription factor.
      Source sequence(s)
      AB076383, AB076384, BC015709, BI545390
      UniProtKB/Swiss-Prot
      P17861
      Related
      ENSP00000481170, ENST00000611155
      Conserved Domains (1) summary
      cd14691
      Location:70126
      bZIP_XBP1; Basic leucine zipper (bZIP) domain of X-box binding protein 1 (XBP1) and similar proteins: a DNA-binding and dimerization domain
    2. NM_005080.3NP_005071.2  X-box-binding protein 1 isoform XBP1(U)

      See identical proteins and their annotated locations for NP_005071.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform, XBP1(U).
      Source sequence(s)
      Z93930
      Consensus CDS
      CCDS13847.1
      UniProtKB/TrEMBL
      A0A024R1F0
      UniProtKB/Swiss-Prot
      P17861
      Related
      ENSP00000216037, OTTHUMP00000199111, ENST00000216037, OTTHUMT00000321274
      Conserved Domains (1) summary
      cd14691
      Location:70126
      bZIP_XBP1; Basic leucine zipper (bZIP) domain of X-box binding protein 1 (XBP1) and similar proteins: a DNA-binding and dimerization domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

      Range
      28794560..28800572 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      29149582..29155594 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)