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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 enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). The resulting loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. A pseudogene of XBP1 has been identified and localized to chromosome 5. [provided by RefSeq, Jul 2008]
XBP1 (X-Box Binding Protein 1) is a Protein Coding gene. Diseases associated with XBP1 include Major Affective Disorder 7 and Bipolar Disorder. Among its related pathways are Metabolism of proteins and Unfolded Protein Response (UPR). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | -- |
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA,IBA | 21873635 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | ISS | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IBA | 21873635 |
GO:0000987 | proximal promoter sequence-specific DNA binding | IDA | 2196176 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | ISS | -- |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 23529610 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | -- |
GO:0001525 | angiogenesis | ISS | -- |
GO:0001558 | regulation of cell growth | IDA | -- |
GO:0001889 | liver development | ISS | -- |
GO:0001934 | positive regulation of protein phosphorylation | IDA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Platinum compounds | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | XBP1 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | XBP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Xbp1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Xbp1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | XBP1 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | XBP1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | XBP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | XBP1 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | xbp1-prov 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.6630 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | xbp1 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8787 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Xbp1 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | xbp-1 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4536 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1379560430 | A breast cancer sample |
p.Arg232Lys |
|||
rs1601436804 | Uncertain Significance: Major affective disorder 7 | 28,796,046(-) |
C/A NM_005080.3(XBP1):c.599+1G>T |
SPLICE_DONOR | |
rs182389895 | Likely Benign: not provided | 28,797,070(-) |
G/T NM_005080.3(XBP1):c.453+7C>A |
INTRON | |
VAR_035998 | A breast cancer sample |
p.Asp12Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1064079 | CNV | gain | 25217958 |
nsv834169 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
major affective disorder 7 |
|
|
bipolar disorder |
|
|
fatty liver disease |
|
|
breast cancer |
|
|
b-cell lymphoma |
|
|