Gene Gene information from NCBI Gene database.
Entrez ID 7494
Gene name X-box binding protein 1
Gene symbol XBP1
Synonyms (NCBI Gene)
TREB-5TREB5XBP-1XBP2
Chromosome 22
Chromosome location 22q12.1|22q12
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 enhance
miRNA miRNA information provided by mirtarbase database.
412
miRTarBase ID miRNA Experiments Reference
MIRT004462 hsa-miR-127-3p Luciferase reporter assay 19530237
MIRT006375 hsa-miR-214-3p ELISAFlowLuciferase reporter assayqRT-PCRWestern blot 22359598
MIRT006375 hsa-miR-214-3p ELISAFlowLuciferase reporter assayqRT-PCRWestern blot 22359598
MIRT006375 hsa-miR-214-3p ELISAFlowLuciferase reporter assayqRT-PCRWestern blot 22359598
MIRT006375 hsa-miR-214-3p ELISAFlowLuciferase reporter assayqRT-PCRWestern blot 22359598
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
160
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 16461360, 25239945, 25280941
GO:0000976 Function Transcription cis-regulatory region binding IDA 23184933, 25190803
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 11779464
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
194355 12801 ENSG00000100219
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- risk factor rs2269577 RCV000012978
Autosomal dominant polycystic liver disease Likely benign rs1394430611, rs570172086, rs528996789 RCV001844944
RCV001844946
RCV001844947
Major affective disorder 7 Uncertain significance rs1601436804 RCV001001988
Associations from Text MiningDisease associations identified through Pubtator
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