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

Gene ID: 7494, updated on 7-Aug-2014
Official Symbol
XBP1provided by HGNC
Official Full Name
X-box binding protein 1provided by HGNC
Primary source
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
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]
See XBP1 in Epigenomics, MapViewer
Location:
22q12.1; 22q12
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 chromosome 9 open reading frame 16 pseudogene Neighboring gene zinc and ring finger 3 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
not available

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

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 Protein 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 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
activation of signaling protein activity involved in unfolded protein response TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to antibiotic IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum unfolded protein response TAS
Traceable Author Statement
more info
 
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
 
immune response TAS
Traceable Author Statement
more info
PubMed 
positive regulation of endoplasmic reticulum unfolded protein response IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
serotonin secretion, neurotransmission IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
X-box-binding protein 1
Names
X-box-binding protein 1
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 

    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 proteins identical to 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
    Conserved Domains (1) summary
    cd12193
    Location:72123
    Blast Score: 125
    B_zip1; basic leucine zipper DNA-binding and multimerization region of GCN4 and related proteins
  2. NM_005080.3NP_005071.2  X-box-binding protein 1 isoform XBP1(U)

    See proteins identical to 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
    Related
    ENSP00000216037, OTTHUMP00000199111, ENST00000216037, OTTHUMT00000321274
    Conserved Domains (1) summary
    cd12193
    Location:72123
    Blast Score: 122
    B_zip1; basic leucine zipper DNA-binding and multimerization region of GCN4 and related proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000022.11 

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

Alternate HuRef

Genomic

  1. AC_000154.1 

    Range
    12155463..12161487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 

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