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TBL1XR1 (transducin beta like 1 X-linked receptor 1)

Identity

Alias_namestransducin (beta)-like 1X-linked receptor 1
Alias_symbol (synonym)IRA1
FLJ12894
TBLR1
C21
DC42
Other aliasMRD41
HGNC (Hugo) TBL1XR1
LocusID (NCBI) 79718
Atlas_Id 47600
Location 3q26.32  [Link to chromosome band 3q26]
Location_base_pair Starts at 177019355 and ends at 177196484 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COQ6 (14q24.3) / TBL1XR1 (3q26.32)GRIP1 (12q14.3) / TBL1XR1 (3q26.32)TBL1XR1 (3q26.32) / AC135352.2 ()
TBL1XR1 (3q26.32) / C20orf24 (20q11.23)TBL1XR1 (3q26.32) / CACNA1C (12p13.33)TBL1XR1 (3q26.32) / ENPP2 (8q24.12)
TBL1XR1 (3q26.32) / GRM1 (6q24.3)TBL1XR1 (3q26.32) / LXN (3q25.32)TBL1XR1 (3q26.32) / MAST3 (19p13.11)
TBL1XR1 (3q26.32) / MIPEP (13q12.12)TBL1XR1 (3q26.32) / PIK3CA (3q26.32)TBL1XR1 (3q26.32) / RARA (17q21.2)
TBL1XR1 (3q26.32) / RET (10q11.21)TBL1XR1 (3q26.32) / RGS17 (6q25.2)TBL1XR1 (3q26.32) / RP11-433C9.2 ()
TBL1XR1 (3q26.32) / TP63 (3q28)TBL1XR1 (3q26.32) / UEVLD (11p15.1)TBL1XR1 (3q26.32) / USP13 (3q26.33)
TBL1XR1 (3q26.32) / ZBTB4 (17p13.1)TP63 (3q28) / TBL1XR1 (3q26.32)TPM4 (19p13.12) / TBL1XR1 (3q26.32)
TBL1XR1 3q26.32 AC135352.2TBL1XR1 3q26.32 / CACNA1C 12p13.33TBL1XR1 3q26.32 / LXN 3q25.32
TBL1XR1 3q26.32 / MAST3 19p13.11TBL1XR1 3q26.32 / MIPEP 13q12.12TBL1XR1 3q26.32 / PIK3CA 3q26.32
TBL1XR1 3q26.32 / RET 10q11.21TBL1XR1 3q26.32 RP11-433C9.2TBL1XR1 3q26.32 / USP13 3q26.33

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  Anaplastic large cell lymphoma, ALK-negative
M3/M3v acute myeloid leukemia (AML M3/M3v)
::Acute promyelocytic leukemia (APL)
::Acute promyelocytic leukemia (APL) PML/RARA

t(3;17)(q26;q12-21) TBL1XR1/RARA
t(9;17)(p13;p12) PAX5/NCOR1
t(5;17)(q35;q21) NPM1/RARA


External links

Nomenclature
HGNC (Hugo)TBL1XR1   29529
Cards
Entrez_Gene (NCBI)TBL1XR1  79718  transducin beta like 1 X-linked receptor 1
AliasesC21; DC42; IRA1; MRD41; 
TBLR1
GeneCards (Weizmann)TBL1XR1
Ensembl hg19 (Hinxton)ENSG00000177565 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177565 [Gene_View]  chr3:177019355-177196484 [Contig_View]  TBL1XR1 [Vega]
ICGC DataPortalENSG00000177565
TCGA cBioPortalTBL1XR1
AceView (NCBI)TBL1XR1
Genatlas (Paris)TBL1XR1
WikiGenes79718
SOURCE (Princeton)TBL1XR1
Genetics Home Reference (NIH)TBL1XR1
Genomic and cartography
GoldenPath hg38 (UCSC)TBL1XR1  -     chr3:177019355-177196484 -  3q26.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBL1XR1  -     3q26.32   [Description]    (hg19-Feb_2009)
EnsemblTBL1XR1 - 3q26.32 [CytoView hg19]  TBL1XR1 - 3q26.32 [CytoView hg38]
Mapping of homologs : NCBITBL1XR1 [Mapview hg19]  TBL1XR1 [Mapview hg38]
OMIM270710   602342   608628   616944   
Gene and transcription
Genbank (Entrez)AF086399 AF267864 AF268193 AF314544 AK022956
RefSeq transcript (Entrez)NM_001321193 NM_001321194 NM_001321195 NM_024665
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBL1XR1
Cluster EST : UnigeneHs.715026 [ NCBI ]
CGAP (NCI)Hs.715026
Alternative Splicing GalleryENSG00000177565
Gene ExpressionTBL1XR1 [ NCBI-GEO ]   TBL1XR1 [ EBI - ARRAY_EXPRESS ]   TBL1XR1 [ SEEK ]   TBL1XR1 [ MEM ]
Gene Expression Viewer (FireBrowse)TBL1XR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79718
GTEX Portal (Tissue expression)TBL1XR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZK7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BZK7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BZK7
Splice isoforms : SwissVarQ9BZK7
PhosPhoSitePlusQ9BZK7
Domaine pattern : Prosite (Expaxy)LISH (PS50896)    WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)G-protein_beta_WD-40_rep    LisH    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)LisH (PF08513)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam08513    pfam00400   
Domain families : Smart (EMBL)LisH (SM00667)  WD40 (SM00320)  
Conserved Domain (NCBI)TBL1XR1
DMDM Disease mutations79718
Blocks (Seattle)TBL1XR1
PDB (SRS)4LG9   
PDB (PDBSum)4LG9   
PDB (IMB)4LG9   
PDB (RSDB)4LG9   
Structural Biology KnowledgeBase4LG9   
SCOP (Structural Classification of Proteins)4LG9   
CATH (Classification of proteins structures)4LG9   
SuperfamilyQ9BZK7
Human Protein AtlasENSG00000177565
Peptide AtlasQ9BZK7
HPRD15476
IPIIPI00002922   IPI00922336   IPI00008472   IPI00925198   IPI00924550   IPI00924818   IPI00927546   IPI00927791   IPI00927137   IPI00926594   IPI00926848   IPI00926628   IPI00926545   
Protein Interaction databases
DIP (DOE-UCLA)Q9BZK7
IntAct (EBI)Q9BZK7
FunCoupENSG00000177565
BioGRIDTBL1XR1
STRING (EMBL)TBL1XR1
ZODIACTBL1XR1
Ontologies - Pathways
QuickGOQ9BZK7
Ontology : AmiGOhistone deacetylase complex  negative regulation of transcription from RNA polymerase II promoter  response to dietary excess  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  spindle microtubule  transcription, DNA-templated  beta-catenin binding  lipid catabolic process  histone deacetylation  transcriptional repressor complex  regulation of cAMP metabolic process  multicellular organism growth  histone binding  proteasome-mediated ubiquitin-dependent protein catabolic process  transcription regulatory region DNA binding  transcription regulatory region DNA binding  cellular lipid metabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  white fat cell differentiation  canonical Wnt signaling pathway  fat pad development  regulation of triglyceride metabolic process  
Ontology : EGO-EBIhistone deacetylase complex  negative regulation of transcription from RNA polymerase II promoter  response to dietary excess  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  spindle microtubule  transcription, DNA-templated  beta-catenin binding  lipid catabolic process  histone deacetylation  transcriptional repressor complex  regulation of cAMP metabolic process  multicellular organism growth  histone binding  proteasome-mediated ubiquitin-dependent protein catabolic process  transcription regulatory region DNA binding  transcription regulatory region DNA binding  cellular lipid metabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  white fat cell differentiation  canonical Wnt signaling pathway  fat pad development  regulation of triglyceride metabolic process  
Pathways : KEGGWnt signaling pathway   
NDEx NetworkTBL1XR1
Atlas of Cancer Signalling NetworkTBL1XR1
Wikipedia pathwaysTBL1XR1
Orthology - Evolution
OrthoDB79718
GeneTree (enSembl)ENSG00000177565
Phylogenetic Trees/Animal Genes : TreeFamTBL1XR1
HOVERGENQ9BZK7
HOGENOMQ9BZK7
Homologs : HomoloGeneTBL1XR1
Homology/Alignments : Family Browser (UCSC)TBL1XR1
Gene fusions - Rearrangements
Fusion : MitelmanTBL1XR1/C20orf24 [3q26.32/20q11.23]  
Fusion : MitelmanTBL1XR1/CACNA1C [3q26.32/12p13.33]  [t(3;12)(q26;p13)]  
Fusion : MitelmanTBL1XR1/GRM1 [3q26.32/6q24.3]  [t(3;6)(q26;q24)]  
Fusion : MitelmanTBL1XR1/LXN [3q26.32/3q25.32]  [t(3;3)(q25;q26)]  
Fusion : MitelmanTBL1XR1/MAST3 [3q26.32/19p13.11]  [t(3;19)(q26;p13)]  
Fusion : MitelmanTBL1XR1/MIPEP [3q26.32/13q12.12]  [t(3;13)(q26;q12)]  
Fusion : MitelmanTBL1XR1/PIK3CA [3q26.32/3q26.32]  [t(3;3)(q26;q26)]  
Fusion : MitelmanTBL1XR1/RARA [3q26.32/17q21.2]  [t(3;17)(q26;q21)]  
Fusion : MitelmanTBL1XR1/RET [3q26.32/10q11.21]  [t(3;10)(q26;q11)]  
Fusion : MitelmanTBL1XR1/RGS17 [3q26.32/6q25.2]  [t(3;6)(q26;q25)]  
Fusion : MitelmanTBL1XR1/TP63 [3q26.32/3q28]  [inv(3)(q26q28)]  
Fusion : MitelmanTBL1XR1/USP13 [3q26.32/3q26.33]  [t(3;3)(q26;q26)]  
Fusion : MitelmanTP63/TBL1XR1 [3q28/3q26.32]  [inv(3)(q26q28)]  
Fusion: TCGATBL1XR1 3q26.32 AC135352.2 HNSC
Fusion: TCGATBL1XR1 3q26.32 CACNA1C 12p13.33 BRCA
Fusion: TCGATBL1XR1 3q26.32 LXN 3q25.32 BRCA
Fusion: TCGATBL1XR1 3q26.32 MAST3 19p13.11 OV
Fusion: TCGATBL1XR1 3q26.32 MIPEP 13q12.12 OV
Fusion: TCGATBL1XR1 3q26.32 PIK3CA 3q26.32 BRCA
Fusion: TCGATBL1XR1 3q26.32 RET 10q11.21 THCA
Fusion: TCGATBL1XR1 3q26.32 RP11-433C9.2 BRCA
Fusion: TCGATBL1XR1 3q26.32 USP13 3q26.33 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBL1XR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBL1XR1
dbVarTBL1XR1
ClinVarTBL1XR1
1000_GenomesTBL1XR1 
Exome Variant ServerTBL1XR1
ExAC (Exome Aggregation Consortium)TBL1XR1 (select the gene name)
Genetic variants : HAPMAP79718
Genomic Variants (DGV)TBL1XR1 [DGVbeta]
DECIPHERTBL1XR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBL1XR1 
Mutations
ICGC Data PortalTBL1XR1 
TCGA Data PortalTBL1XR1 
Broad Tumor PortalTBL1XR1
OASIS PortalTBL1XR1 [ Somatic mutations - Copy number]
Cancer Gene: CensusTBL1XR1 
Somatic Mutations in Cancer : COSMICTBL1XR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBL1XR1
intOGen PortalTBL1XR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TBL1XR1
DgiDB (Drug Gene Interaction Database)TBL1XR1
DoCM (Curated mutations)TBL1XR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBL1XR1 (select a term)
intoGenTBL1XR1
Cancer3DTBL1XR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM270710    602342    608628    616944   
Orphanet8559   
MedgenTBL1XR1
Genetic Testing Registry TBL1XR1
NextProtQ9BZK7 [Medical]
TSGene79718
GENETestsTBL1XR1
Target ValidationTBL1XR1
Huge Navigator TBL1XR1 [HugePedia]
snp3D : Map Gene to Disease79718
BioCentury BCIQTBL1XR1
ClinGenTBL1XR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79718
Chemical/Pharm GKB GenePA134928556
Clinical trialTBL1XR1
Miscellaneous
canSAR (ICR)TBL1XR1 (select the gene name)
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBL1XR1
EVEXTBL1XR1
GoPubMedTBL1XR1
iHOPTBL1XR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:34:25 CEST 2017

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