Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol XBP1 contributors: mct - updated : 06-09-2016
HGNC name X-box binding protein 1
HGNC id 12801
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       loss of function
in prostate cancer in progression
tumoral     --over  
in primary colorectal carcinomas and in colorectal adenomas
constitutional     --over  
increased XBP1 expression may contribute to a reduction of oxidative stress and prevention of aging
constitutional     --low  
led to augmented expression of FOXO1, a key transcription factor regulating autophagy in neurons
Susceptibility
  • to bipolar disorder
  • to inflammatory bowel disease
  • Variant & Polymorphism other
  • C116G increases the risk of bipolar disorder
  • variants increasing the risk of inflammatory bowel disease
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    potential of XBP1 as targets for Alzheimer disease therapeutics
    diabetetype 2 
    potential new therapeutic approach for the treatment of type 2 diabetes
    ANIMAL & CELL MODELS
  • mutant SOD1 transgenic mice with specific deletion of XBP-1 in the nervous system were more resistant to developing disease, correlating with increased levels of autophagy in motoneurons and reduced accumulation of mutant SOD1 aggregates in the spinal cord
  • Xbp1-deficient mice were more resistant to developing disease features, associated with improved neuronal survival and motor performance, and a drastic decrease in mHtt levels