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TBL1XR1 (TBL1X receptor 1)

Identity

Alias (NCBI)C21
DC42
IRA1
MRD41
TBLR1
HGNC (Hugo) TBL1XR1
HGNC Alias symbIRA1
FLJ12894
TBLR1
C21
DC42
HGNC Previous nametransducin (beta)-like 1X-linked receptor 1
 transducin beta like 1 X-linked receptor 1
LocusID (NCBI) 79718
Atlas_Id 47600
Location 3q26.32  [Link to chromosome band 3q26]
Location_base_pair Starts at 177019344 and ends at 177197482 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)
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 / TP63 3q28TBL1XR1 3q26.32 AC135352.2TBL1XR1 3q26.32 / CACNA1C 12p13.33
TBL1XR1 3q26.32 / LXN 3q25.32TBL1XR1 3q26.32 / MAST3 19p13.11TBL1XR1 3q26.32 / MIPEP 13q12.12
TBL1XR1 3q26.32 / PIK3CA 3q26.32TBL1XR1 3q26.32 / RET 10q11.21TBL1XR1 3q26.32 RP11-433C9.2
TBL1XR1 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) [ 15 ]
  Anaplastic large cell lymphoma, ALK-negative
TBL1XR1/MECOM fusion::del(3)(q26.2q26.3) TBL1XR1/MECOM
Juvenile myelomonocytic leukemia (JMML)
M3/M3v acute myeloid leukemia (AML M3/M3v)
::Acute promyelocytic leukemia (APL)
::Acute promyelocytic leukemia (APL) PML/RARA

Ocular adnexal marginal zone lymphoma (OAMZL)
t(3;17)(q26;q12-21) TBL1XR1/RARA
t(9;17)(p13;p12) PAX5/NCOR1
t(5;17)(q35;q21) NPM1/RARA
inv(3)(q26q28) TBL1XR1/TP63
inv(3)(q26q28) TP63/TBL1XR1
t(3;3)(q22;q26) MSL2/TBL1XR1
t(3;3)(q23;q26) TBL1XR1/COPB2
t(3;3)(q26;q26) FXR1/TBL1XR1
t(3;5)(q26;q32) TBL1XR1/CSF1R
t(3;20)(q26;q11) TBL1XR1/C20orf24


External links

Nomenclature
HGNC (Hugo)TBL1XR1   29529
Cards
Entrez_Gene (NCBI)TBL1XR1    TBL1X receptor 1
AliasesC21; DC42; IRA1; MRD41; 
TBLR1
GeneCards (Weizmann)TBL1XR1
Ensembl hg19 (Hinxton)ENSG00000177565 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177565 [Gene_View]  ENSG00000177565 [Sequence]  chr3:177019344-177197482 [Contig_View]  TBL1XR1 [Vega]
ICGC DataPortalENSG00000177565
TCGA cBioPortalTBL1XR1
AceView (NCBI)TBL1XR1
Genatlas (Paris)TBL1XR1
SOURCE (Princeton)TBL1XR1
Genetics Home Reference (NIH)TBL1XR1
Genomic and cartography
GoldenPath hg38 (UCSC)TBL1XR1  -     chr3:177019344-177197482 -  3q26.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBL1XR1  -     3q26.32   [Description]    (hg19-Feb_2009)
GoldenPathTBL1XR1 - 3q26.32 [CytoView hg19]  TBL1XR1 - 3q26.32 [CytoView hg38]
ImmunoBaseENSG00000177565
genome Data Viewer NCBITBL1XR1 [Mapview hg19]  
OMIM602342   608628   616944   
Gene and transcription
Genbank (Entrez)AF086399 AF267864 AF268193 AF314544 AK022956
RefSeq transcript (Entrez)NM_001321193 NM_001321194 NM_001321195 NM_001374327 NM_001374328 NM_001374329 NM_001374330 NM_024665
Consensus coding sequences : CCDS (NCBI)TBL1XR1
Alternative Splicing GalleryENSG00000177565
Gene ExpressionTBL1XR1 [ NCBI-GEO ]   TBL1XR1 [ EBI - ARRAY_EXPRESS ]   TBL1XR1 [ SEEK ]   TBL1XR1 [ MEM ]
Gene Expression Viewer (FireBrowse)TBL1XR1 [ Firebrowse - Broad ]
GenevisibleExpression of TBL1XR1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79718
GTEX Portal (Tissue expression)TBL1XR1
Human Protein AtlasENSG00000177565-TBL1XR1 [pathology]   [cell]   [tissue]
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
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_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    WD40_repeat_dom_sf   
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
PDB (RSDB)4LG9   
PDB Europe4LG9   
PDB (PDBSum)4LG9   
PDB (IMB)4LG9   
Structural Biology KnowledgeBase4LG9   
SCOP (Structural Classification of Proteins)4LG9   
CATH (Classification of proteins structures)4LG9   
SuperfamilyQ9BZK7
AlphaFold pdb e-kbQ9BZK7   
Human Protein Atlas [tissue]ENSG00000177565-TBL1XR1 [tissue]
HPRD15476
Protein Interaction databases
DIP (DOE-UCLA)Q9BZK7
IntAct (EBI)Q9BZK7
BioGRIDTBL1XR1
STRING (EMBL)TBL1XR1
ZODIACTBL1XR1
Ontologies - Pathways
QuickGOQ9BZK7
Ontology : AmiGOhistone deacetylase complex  histone deacetylase complex  negative regulation of transcription by RNA polymerase II  transcription cis-regulatory region binding  transcription cis-regulatory region binding  transcription corepressor activity  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  regulation of transcription by RNA polymerase II  transcription initiation from RNA polymerase II promoter  beta-catenin binding  histone deacetylation  transcription repressor complex  regulation of lipid metabolic process  intracellular receptor signaling pathway  histone binding  proteasome-mediated ubiquitin-dependent protein catabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  protein N-terminus binding  mitotic spindle  positive regulation of canonical Wnt signaling pathway  
Ontology : EGO-EBIhistone deacetylase complex  histone deacetylase complex  negative regulation of transcription by RNA polymerase II  transcription cis-regulatory region binding  transcription cis-regulatory region binding  transcription corepressor activity  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  regulation of transcription by RNA polymerase II  transcription initiation from RNA polymerase II promoter  beta-catenin binding  histone deacetylation  transcription repressor complex  regulation of lipid metabolic process  intracellular receptor signaling pathway  histone binding  proteasome-mediated ubiquitin-dependent protein catabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  protein N-terminus binding  mitotic spindle  positive regulation of canonical Wnt signaling pathway  
Pathways : KEGGWnt signaling pathway   
NDEx NetworkTBL1XR1
Atlas of Cancer Signalling NetworkTBL1XR1
Wikipedia pathwaysTBL1XR1
Orthology - Evolution
OrthoDB79718
GeneTree (enSembl)ENSG00000177565
Phylogenetic Trees/Animal Genes : TreeFamTBL1XR1
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]  
Fusion : MitelmanTBL1XR1/GRM1 [3q26.32/6q24.3]  
Fusion : MitelmanTBL1XR1/LXN [3q26.32/3q25.32]  
Fusion : MitelmanTBL1XR1/MAST3 [3q26.32/19p13.11]  
Fusion : MitelmanTBL1XR1/MIPEP [3q26.32/13q12.12]  
Fusion : MitelmanTBL1XR1/PIK3CA [3q26.32/3q26.32]  
Fusion : MitelmanTBL1XR1/RARA [3q26.32/17q21.2]  
Fusion : MitelmanTBL1XR1/RET [3q26.32/10q11.21]  
Fusion : MitelmanTBL1XR1/RGS17 [3q26.32/6q25.2]  
Fusion : MitelmanTBL1XR1/TP63 [3q26.32/3q28]  
Fusion : MitelmanTBL1XR1/USP13 [3q26.32/3q26.33]  
Fusion : MitelmanTP63/TBL1XR1 [3q28/3q26.32]  
Fusion PortalTBL1XR1 3q26.32 AC135352.2 HNSC
Fusion PortalTBL1XR1 3q26.32 CACNA1C 12p13.33 BRCA
Fusion PortalTBL1XR1 3q26.32 LXN 3q25.32 BRCA
Fusion PortalTBL1XR1 3q26.32 MAST3 19p13.11 OV
Fusion PortalTBL1XR1 3q26.32 MIPEP 13q12.12 OV
Fusion PortalTBL1XR1 3q26.32 PIK3CA 3q26.32 BRCA
Fusion PortalTBL1XR1 3q26.32 RET 10q11.21 THCA
Fusion PortalTBL1XR1 3q26.32 RP11-433C9.2 BRCA
Fusion PortalTBL1XR1 3q26.32 USP13 3q26.33 BRCA
Fusion : QuiverTBL1XR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBL1XR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBL1XR1
dbVarTBL1XR1
ClinVarTBL1XR1
MonarchTBL1XR1
1000_GenomesTBL1XR1 
Exome Variant ServerTBL1XR1
GNOMAD BrowserENSG00000177565
Varsome BrowserTBL1XR1
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]  
Somatic Mutations in Cancer : COSMIC3DTBL1XR1
Mutations and Diseases : HGMDTBL1XR1
intOGen PortalTBL1XR1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
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)
Cancer3DTBL1XR1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602342    608628    616944   
Orphanet8559   
DisGeNETTBL1XR1
MedgenTBL1XR1
Genetic Testing Registry TBL1XR1
NextProtQ9BZK7 [Medical]
GENETestsTBL1XR1
Target ValidationTBL1XR1
Huge Navigator TBL1XR1 [HugePedia]
ClinGenTBL1XR1
Clinical trials, drugs, therapy
MyCancerGenomeTBL1XR1
Protein Interactions : CTDTBL1XR1
Pharm GKB GenePA134928556
PharosQ9BZK7
Clinical trialTBL1XR1
Miscellaneous
canSAR (ICR)TBL1XR1
HarmonizomeTBL1XR1
DataMed IndexTBL1XR1
Probes
Litterature
PubMed111 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBL1XR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Sep 15 22:40:04 CEST 2021

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