XBP1 (X-box binding protein 1)

2003-12-01  

Identity

HGNC
XBP1
LOCATION
22q12.1
LOCUSID
7494
ALIAS
TREB-5,TREB5,XBP-1,XBP2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7494
MIM: 194355
HGNC: 12801
Ensembl: ENSG00000100219

Variants:

dbSNP: 7494
ClinVar: 7494
TCGA: ENSG00000100219
COSMIC: XBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100219ENST00000216037P17861
ENSG00000100219ENST00000216037A0A024R1F0
ENSG00000100219ENST00000344347P17861
ENSG00000100219ENST00000403532B1AHH2
ENSG00000100219ENST00000405219B1AHH1
ENSG00000100219ENST00000611155P17861

Expression (GTEx)

0
100
200
300
400
500
600
700
800
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
ATF6 (ATF6-alpha) activates chaperonesREACTOMER-HSA-381033
ATF6 (ATF6-alpha) activates chaperone genesREACTOMER-HSA-381183
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713176Platinum compoundsChemicalClinicalAnnotationassociatedPD23510626
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD23510626

References

Pubmed IDYearTitleCitations
117794642001XBP1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factor.1295
187753082008XBP1 links ER stress to intestinal inflammation and confers genetic risk for human inflammatory bowel disease.504
185839792008Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.395
246706412014XBP1 promotes triple-negative breast cancer by controlling the HIF1α pathway.247
125860692003A time-dependent phase shift in the mammalian unfolded protein response.211
186358912008Epithelial endoplasmic reticulum stress and apoptosis in sporadic idiopathic pulmonary fibrosis.190
180827452008Activation and dysregulation of the unfolded protein response in nonalcoholic fatty liver disease.177
260739412015ER Stress Sensor XBP1 Controls Anti-tumor Immunity by Disrupting Dendritic Cell Homeostasis.176
155988912004Differential contributions of ATF6 and XBP1 to the activation of endoplasmic reticulum stress-responsive cis-acting elements ERSE, UPRE and ERSE-II.156
174184112007The differentiation and stress response factor XBP-1 drives multiple myeloma pathogenesis.155

Citation

Dessen P

XBP1 (X-box binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/42842/xbp1