Atlas of Genetics and Cytogenetics in Oncology and Haematology

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XBP1 (X-box binding protein 1)

Identity

Alias_namesXBP2
Other aliasTREB-5
TREB5
XBP-1
HGNC (Hugo) XBP1
LocusID (NCBI) 7494
Atlas_Id 42842
Location 22q12.1  [Link to chromosome band 22q12]
Location_base_pair Starts at 28794560 and ends at 28800572 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CYB561 (17q23.3) / XBP1 (22q12.1)RAB1B (11q13.2) / XBP1 (22q12.1)XBP1 (22q12.1) / JUP (17q21.2)
XBP1 (22q12.1) / XBP1 (22q12.1)XXbac-B461K10.4 () / XBP1 (22q12.1)ZNRF3 (22q12.1) / XBP1 (22q12.1)
CYB561 17q23.3 / XBP1 22q12.1RAB1B 11q13.2 / XBP1 22q12.1XXbac-B461K10.4 XBP1 22q12.1
ZNRF3 22q12.1 / XBP1 22q12.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(11;22)(q13;q12) RAB1B/XBP1
t(17;22)(q23;q12) CYB561/XBP1
ZNRF3/XBP1 (22q12)

External links

Nomenclature
HGNC (Hugo)XBP1   12801
Cards
Entrez_Gene (NCBI)XBP1  7494  X-box binding protein 1
AliasesTREB-5; TREB5; XBP-1; XBP2
GeneCards (Weizmann)XBP1
Ensembl hg19 (Hinxton)ENSG00000100219 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100219 [Gene_View]  ENSG00000100219 [Sequence]  chr22:28794560-28800572 [Contig_View]  XBP1 [Vega]
ICGC DataPortalENSG00000100219
TCGA cBioPortalXBP1
AceView (NCBI)XBP1
Genatlas (Paris)XBP1
WikiGenes7494
SOURCE (Princeton)XBP1
Genetics Home Reference (NIH)XBP1
Genomic and cartography
GoldenPath hg38 (UCSC)XBP1  -     chr22:28794560-28800572 -  22q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)XBP1  -     22q12.1   [Description]    (hg19-Feb_2009)
EnsemblXBP1 - 22q12.1 [CytoView hg19]  XBP1 - 22q12.1 [CytoView hg38]
Mapping of homologs : NCBIXBP1 [Mapview hg19]  XBP1 [Mapview hg38]
OMIM194355   612371   
Gene and transcription
Genbank (Entrez)AB076383 AB076384 AK093842 AK292188 AK313761
RefSeq transcript (Entrez)NM_001079539 NM_005080
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)XBP1
Cluster EST : UnigeneHs.437638 [ NCBI ]
CGAP (NCI)Hs.437638
Alternative Splicing GalleryENSG00000100219
Gene ExpressionXBP1 [ NCBI-GEO ]   XBP1 [ EBI - ARRAY_EXPRESS ]   XBP1 [ SEEK ]   XBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)XBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7494
GTEX Portal (Tissue expression)XBP1
Human Protein AtlasENSG00000100219-XBP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17861   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17861  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17861
Splice isoforms : SwissVarP17861
PhosPhoSitePlusP17861
Domaine pattern : Prosite (Expaxy)BZIP (PS50217)    BZIP_BASIC (PS00036)   
Domains : Interpro (EBI)bZIP   
Domain families : Pfam (Sanger)bZIP_2 (PF07716)   
Domain families : Pfam (NCBI)pfam07716   
Domain families : Smart (EMBL)BRLZ (SM00338)  
Conserved Domain (NCBI)XBP1
DMDM Disease mutations7494
Blocks (Seattle)XBP1
SuperfamilyP17861
Human Protein Atlas [tissue]ENSG00000100219-XBP1 [tissue]
Peptide AtlasP17861
HPRD01908
IPIIPI00056479   IPI00411953   IPI00879089   IPI00878907   IPI00879158   
Protein Interaction databases
DIP (DOE-UCLA)P17861
IntAct (EBI)P17861
FunCoupENSG00000100219
BioGRIDXBP1
STRING (EMBL)XBP1
ZODIACXBP1
Ontologies - Pathways
QuickGOP17861
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  enhancer sequence-specific DNA binding  angiogenesis  liver development  endothelial cell proliferation  positive regulation of immunoglobulin production  DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  endoplasmic reticulum  transcription by RNA polymerase II  transcription by RNA polymerase II  ubiquitin-dependent protein catabolic process  fatty acid biosynthetic process  autophagy  immune response  positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response  positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response  muscle organ development  positive regulation of cell proliferation  positive regulation of cell proliferation  regulation of autophagy  negative regulation of myotube differentiation  protein transport  integral component of endoplasmic reticulum membrane  positive regulation of cell migration  endoplasmic reticulum unfolded protein response  exocrine pancreas development  protein destabilization  cellular response to nutrient  cellular response to insulin stimulus  cellular triglyceride homeostasis  positive regulation of vascular wound healing  IRE1-mediated unfolded protein response  ATF6-mediated unfolded protein response  cellular response to glucose starvation  cholesterol homeostasis  negative regulation of apoptotic process  positive regulation of MHC class II biosynthetic process  positive regulation of B cell differentiation  positive regulation of T cell differentiation  positive regulation of fat cell differentiation  positive regulation of angiogenesis  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  neuron development  positive regulation of immunoglobulin secretion  fatty acid homeostasis  sterol homeostasis  adipose tissue development  epithelial cell maturation involved in salivary gland development  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  cellular response to lipopolysaccharide  cellular response to amino acid stimulus  cellular response to fructose stimulus  cellular response to glucose stimulus  cellular response to interleukin-4  cellular response to peptide hormone stimulus  positive regulation of plasma cell differentiation  positive regulation of endoplasmic reticulum unfolded protein response  positive regulation of endoplasmic reticulum unfolded protein response  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  positive regulation of lactation  response to insulin-like growth factor stimulus  cellular response to leukemia inhibitory factor  positive regulation of hepatocyte proliferation  positive regulation of interleukin-6 secretion  
Ontology : EGO-EBIRNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  enhancer sequence-specific DNA binding  angiogenesis  liver development  endothelial cell proliferation  positive regulation of immunoglobulin production  DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  endoplasmic reticulum  transcription by RNA polymerase II  transcription by RNA polymerase II  ubiquitin-dependent protein catabolic process  fatty acid biosynthetic process  autophagy  immune response  positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response  positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response  muscle organ development  positive regulation of cell proliferation  positive regulation of cell proliferation  regulation of autophagy  negative regulation of myotube differentiation  protein transport  integral component of endoplasmic reticulum membrane  positive regulation of cell migration  endoplasmic reticulum unfolded protein response  exocrine pancreas development  protein destabilization  cellular response to nutrient  cellular response to insulin stimulus  cellular triglyceride homeostasis  positive regulation of vascular wound healing  IRE1-mediated unfolded protein response  ATF6-mediated unfolded protein response  cellular response to glucose starvation  cholesterol homeostasis  negative regulation of apoptotic process  positive regulation of MHC class II biosynthetic process  positive regulation of B cell differentiation  positive regulation of T cell differentiation  positive regulation of fat cell differentiation  positive regulation of angiogenesis  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  neuron development  positive regulation of immunoglobulin secretion  fatty acid homeostasis  sterol homeostasis  adipose tissue development  epithelial cell maturation involved in salivary gland development  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  cellular response to lipopolysaccharide  cellular response to amino acid stimulus  cellular response to fructose stimulus  cellular response to glucose stimulus  cellular response to interleukin-4  cellular response to peptide hormone stimulus  positive regulation of plasma cell differentiation  positive regulation of endoplasmic reticulum unfolded protein response  positive regulation of endoplasmic reticulum unfolded protein response  negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  positive regulation of lactation  response to insulin-like growth factor stimulus  cellular response to leukemia inhibitory factor  positive regulation of hepatocyte proliferation  positive regulation of interleukin-6 secretion  
Pathways : KEGGProtein processing in endoplasmic reticulum    Non-alcoholic fatty liver disease (NAFLD)    HTLV-I infection   
NDEx NetworkXBP1
Atlas of Cancer Signalling NetworkXBP1
Wikipedia pathwaysXBP1
Orthology - Evolution
OrthoDB7494
GeneTree (enSembl)ENSG00000100219
Phylogenetic Trees/Animal Genes : TreeFamXBP1
HOGENOMP17861
Homologs : HomoloGeneXBP1
Homology/Alignments : Family Browser (UCSC)XBP1
Gene fusions - Rearrangements
Fusion : MitelmanCYB561/XBP1 [17q23.3/22q12.1]  [t(17;22)(q23;q12)]  
Fusion : MitelmanRAB1B/XBP1 [11q13.2/22q12.1]  [t(11;22)(q13;q12)]  
Fusion : MitelmanZNRF3/XBP1 [22q12.1/22q12.1]  [t(22;22)(q12;q12)]  
Fusion PortalCYB561 17q23.3 XBP1 22q12.1 PRAD
Fusion PortalRAB1B 11q13.2 XBP1 22q12.1 LUAD
Fusion PortalXXbac-B461K10.4 XBP1 22q12.1 GBM
Fusion PortalZNRF3 22q12.1 XBP1 22q12.1 SKCM
Fusion : QuiverXBP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerXBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)XBP1
dbVarXBP1
ClinVarXBP1
1000_GenomesXBP1 
Exome Variant ServerXBP1
ExAC (Exome Aggregation Consortium)ENSG00000100219
GNOMAD BrowserENSG00000100219
Varsome BrowserXBP1
Genetic variants : HAPMAP7494
Genomic Variants (DGV)XBP1 [DGVbeta]
DECIPHERXBP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisXBP1 
Mutations
ICGC Data PortalXBP1 
TCGA Data PortalXBP1 
Broad Tumor PortalXBP1
OASIS PortalXBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICXBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDXBP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch XBP1
DgiDB (Drug Gene Interaction Database)XBP1
DoCM (Curated mutations)XBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)XBP1 (select a term)
intoGenXBP1
Cancer3DXBP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM194355    612371   
Orphanet
DisGeNETXBP1
MedgenXBP1
Genetic Testing Registry XBP1
NextProtP17861 [Medical]
TSGene7494
GENETestsXBP1
Target ValidationXBP1
Huge Navigator XBP1 [HugePedia]
snp3D : Map Gene to Disease7494
BioCentury BCIQXBP1
ClinGenXBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7494
Chemical/Pharm GKB GenePA37400
Clinical trialXBP1
Miscellaneous
canSAR (ICR)XBP1 (select the gene name)
DataMed IndexXBP1
Probes
Litterature
PubMed235 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineXBP1
EVEXXBP1
GoPubMedXBP1
iHOPXBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 17 18:46:15 CET 2019
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