Preferred Label : XBP1 wt Allele;
NCIt synonyms : X-Box Binding Protein 1 wt Allele; TREB5; XBP2;
NCIt definition : Human XBP1 wild-type allele is located in the vicinity of 22q12.1 or 22q12 and is
approximately 6 kb in length. This allele, which encodes X-box binding protein 1,
plays a role in the regulation of hepatocyte growth, immunoglobulin secretion and
the response to endoplasmic reticulum stress. Aberrant expression and splicing of
this gene may be involved in the pathogenesis of multiple myeloma.;
NCIt note : Upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA
of the XBP-1 gene is processed to an active form by an unconventional splicing mechanism
that is mediated by the endonuclease inositol-requiring enzyme 1. The resulting loss
of 26 nucleotides causes a frame-shift and produces an isoform, XBP1(S), which is
a functional transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U),
is constitutively expressed, and thought to function as a negative feedback regulator
for the active isoform, by inhibiting the transcription of target genes during the
recovery phase of ER stress. (Entrez Gene);
GenBank Accession Number : M31627;
Origin ID : C71426;
UMLS CUI : C2349161;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
