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

    Gene ID: 7494, updated on 17-Oct-2021

    Summary

    Official Symbol
    XBP1provided by HGNC
    Official Full Name
    X-box binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:12801
    See related
    Ensembl:ENSG00000100219 MIM:194355
    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]
    Expression
    Ubiquitous expression in salivary gland (RPKM 196.1), urinary bladder (RPKM 191.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See XBP1 in Genome Data Viewer
    Location:
    22q12.1; 22q12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (28794560..28800569, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29190548..29196557, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene HscB mitochondrial iron-sulfur cluster cochaperone Neighboring gene coiled-coil domain containing 117 Neighboring gene zinc and ring finger 3 Neighboring gene uncharacterized LOC107985549 Neighboring gene bublin coiled coil protein pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
    GeneReviews: Not available
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    GeneReviews: Not available
    Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
    GeneReviews: Not available
    Major affective disorder 7
    MedGen: C2700438 OMIM: 612371 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 Env gp120 upregulates XBP-1 in SVGA cells, human fetal astrocytes, and the prefrontal cortex of gp120 transgenic mice PubMed
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in IRE1-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in adipose tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to amino acid stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to fructose stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to glucose starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to glucose stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to insulin stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to interleukin-4 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to nutrient ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to peptide hormone stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular triglyceride homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endoplasmic reticulum unfolded protein response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fatty acid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in fatty acid homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in liver development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of myotube differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of B cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of MHC class II biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of T cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of endoplasmic reticulum unfolded protein response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of hepatocyte proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of immunoglobulin production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of immunoglobulin production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-6 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of lactation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of plasma cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of vascular wound healing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to insulin-like growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    X-box-binding protein 1
    Names
    tax-responsive element-binding protein 5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001079539.2NP_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
      ENSP00000481170.1, ENST00000611155.4
      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_001393999.1NP_001380928.1  X-box-binding protein 1 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      Z93930
      Conserved Domains (1) summary
      cd14691
      Location:2676
      bZIP_XBP1; Basic leucine zipper (bZIP) domain of X-box binding protein 1 (XBP1) and similar proteins: a DNA-binding and dimerization domain
    3. NM_001394000.1NP_001380929.1  X-box-binding protein 1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      Z93930
      Conserved Domains (1) summary
      cd14691
      Location:2676
      bZIP_XBP1; Basic leucine zipper (bZIP) domain of X-box binding protein 1 (XBP1) and similar proteins: a DNA-binding and dimerization domain
    4. NM_005080.4NP_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/Swiss-Prot
      P17861
      UniProtKB/TrEMBL
      A0A024R1F0
      Related
      ENSP00000216037.6, ENST00000216037.10
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      28794560..28800569 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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