Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7494
Gene name Gene Name - the full gene name approved by the HGNC.
X-box binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
XBP1
Synonyms (NCBI Gene) Gene synonyms aliases
TREB-5, TREB5, XBP-1, XBP2
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.1|22q12
Summary Summary of gene provided in NCBI Entrez 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 enhance
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004462 hsa-miR-127-3p Luciferase reporter assay 19530237
MIRT006375 hsa-miR-214-3p ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot 22359598
MIRT006375 hsa-miR-214-3p ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot 22359598
MIRT006375 hsa-miR-214-3p ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot 22359598
MIRT006375 hsa-miR-214-3p ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot 22359598
Transcription factors
Transcription factor Regulation Reference
ATF6 Unknown 20003459;24269637
BACH2 Repression 24821775
BCL6 Repression 24821775
CEBPB Activation 19717648
PAX5 Repression 8627152
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000987 Function Cis-regulatory region sequence-specific DNA binding IDA 2196176
GO:0001525 Process Angiogenesis ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
194355 12801 ENSG00000100219
Protein
UniProt ID P17861
Protein name X-box-binding protein 1 (XBP-1) (Tax-responsive element-binding protein 5) (TREB-5) [Cleaved into: X-box-binding protein 1, cytoplasmic form; X-box-binding protein 1, luminal form]
Protein function Functions as a transcription factor during endoplasmic reticulum (ER) stress by regulating the unfolded protein response (UPR). Required for cardiac myogenesis and hepatogenesis during embryonic development, and the development of secretory tiss
PDB 6R5Q , 6R6G , 6R6P , 6R7Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07716 bZIP_2 68 122 Basic region leucine zipper Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in plasma cells in rheumatoid synovium (PubMed:11460154). Over-expressed in primary breast cancer and metastatic breast cancer cells (PubMed:25280941). Isoform 1 and isoform 2 are expressed at higher level in proliferating as
Sequence
MVVVAAAPNPADGTPKVLLLSGQPASAAGAPAGQALPLMVPAQRGASPEAASGGLPQARK
RQRLTHLSPEEKALRRKLKNRVAAQTARDRKKARMSELEQQVVDLEEENQKLLLENQLLR
EK
THGLVVENQELRQRLGMDALVAEEEAEAKGNEVRPVAGSAESAALRLRAPLQQVQAQL
SPLQNISPWILAVLTLQIQSLISCWAFWTTWTQSCSSNALPQSLPAWRSSQRSTQKDPVP
YQPPFLCQWGRHQPSWKPLMN
Sequence length 261
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Protein processing in endoplasmic reticulum
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Lipid and atherosclerosis
  XBP1(S) activates chaperone genes
IRE1alpha activates chaperones
ATF6 (ATF6-alpha) activates chaperone genes
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 22960999
Esophagus neoplasm Esophageal Neoplasms, Squamous cell carcinoma of esophagus rs28934578, rs121918714, rs1567556006, rs1575166666 22960999, 25129146
Glioma Glioma, mixed gliomas, Malignant Glioma rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499
View all (13 more)
21138464
Unknown
Disease term Disease name Evidence References Source
Major affective disorder MAJOR AFFECTIVE DISORDER 7 ClinVar
Uterine Fibroids Uterine Fibroids GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acidosis Stimulate 28134810
Adenoma Stimulate 17352224
Adenoma Associate 26066753
Adrenocortical Carcinoma Associate 27631436
Alzheimer Disease Associate 23421912, 29725981, 40430038
Amyotrophic Lateral Sclerosis Stimulate 29725981
Aortic Aneurysm Abdominal Associate 31239294
Arthralgia Stimulate 29720240
Arthritis Stimulate 29720240
Arthritis Rheumatoid Associate 24387801