TBL1XR1 (TBL1X receptor 1)

2007-07-01  

Identity

HGNC
TBL1XR1
LOCATION
3q26.32
LOCUSID
79718
ALIAS
C21,DC42,IRA1,MRD41,TBLR1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79718
MIM: 608628
HGNC: 29529
Ensembl: ENSG00000177565

Variants:

dbSNP: 79718
ClinVar: 79718
TCGA: ENSG00000177565
COSMIC: TBL1XR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177565ENST00000352800F8W9D8
ENSG00000177565ENST00000413084C9JCW4
ENSG00000177565ENST00000422066C9J3H2
ENSG00000177565ENST00000422442C9JY82
ENSG00000177565ENST00000424913C9JCK0
ENSG00000177565ENST00000427349C9JTW8
ENSG00000177565ENST00000428970C9JBN1
ENSG00000177565ENST00000430069Q9BZK7
ENSG00000177565ENST00000431421C9JLJ1
ENSG00000177565ENST00000431674C9J903
ENSG00000177565ENST00000437738C9IYU9
ENSG00000177565ENST00000443315C9JEC9
ENSG00000177565ENST00000450267C9J7E1
ENSG00000177565ENST00000457928Q9BZK7
ENSG00000177565ENST00000626758A0A0D9SFI2
ENSG00000177565ENST00000630796A0A0D9SF25
ENSG00000177565ENST00000630833A0A0D9SEW5
ENSG00000177565ENST00000631253A0A0D9SF63
ENSG00000177565ENST00000635794A0A1B0GUU2
ENSG00000177565ENST00000637659A0A1B0GVH3

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Wnt signaling pathwayKEGGko04310
Wnt signaling pathwayKEGGhsa04310
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by NOTCH1 in CancerREACTOMER-HSA-2644603
Signaling by NOTCH1 PEST Domain Mutants in CancerREACTOMER-HSA-2644602
Constitutive Signaling by NOTCH1 PEST Domain MutantsREACTOMER-HSA-2644606
Signaling by NOTCH1 HD+PEST Domain Mutants in CancerREACTOMER-HSA-2894858
Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsREACTOMER-HSA-2894862
Signal TransductionREACTOMER-HSA-162582
Signaling by NOTCHREACTOMER-HSA-157118
Signaling by NOTCH1REACTOMER-HSA-1980143
NOTCH1 Intracellular Domain Regulates TranscriptionREACTOMER-HSA-2122947
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
YAP1- and WWTR1 (TAZ)-stimulated gene expressionREACTOMER-HSA-2032785
Circadian ClockREACTOMER-HSA-400253
BMAL1:CLOCK,NPAS2 activates circadian gene expressionREACTOMER-HSA-1368108
RORA activates gene expressionREACTOMER-HSA-1368082
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Activation of gene expression by SREBF (SREBP)REACTOMER-HSA-2426168
Developmental BiologyREACTOMER-HSA-1266738
Transcriptional regulation of white adipocyte differentiationREACTOMER-HSA-381340
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HDACs deacetylate histonesREACTOMER-HSA-3214815

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA448320allopurinolChemicalClinicalAnnotation, VariantAnnotationassociatedPD30924126

References

Pubmed IDYearTitleCitations
380734402024lncRNA799/TBL1XR1/ZEB1 Axis Forms a Feedback Loop to Promote the Epithelial-Mesenchymal Transition of Cervical Cancer Cells.0
383786922024The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.0
380734402024lncRNA799/TBL1XR1/ZEB1 Axis Forms a Feedback Loop to Promote the Epithelial-Mesenchymal Transition of Cervical Cancer Cells.0
383786922024The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.0
376837652023Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.0
379099602023Exploring TBL1XR1 and NCOR1 Expression in B-cell Lymphoma Subtypes: Interaction With DNA Damage Repair Genes.0
376837652023Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.0
379099602023Exploring TBL1XR1 and NCOR1 Expression in B-cell Lymphoma Subtypes: Interaction With DNA Damage Repair Genes.0
356366692022Knockdown of circ_0026579 ameliorates lipopolysaccharide (bacterial origin)-induced inflammatory injury in bronchial epithelium cells by targeting miR-338-3p/TBL1XR1 axis.1
362068732022TBL1X: At the crossroads of transcriptional and posttranscriptional regulation.4
356366692022Knockdown of circ_0026579 ameliorates lipopolysaccharide (bacterial origin)-induced inflammatory injury in bronchial epithelium cells by targeting miR-338-3p/TBL1XR1 axis.1
362068732022TBL1X: At the crossroads of transcriptional and posttranscriptional regulation.4
335273602021TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.2
335280662021Deficiency of TBL1XR1 causes asthenozoospermia.3
341172122021A novel fusion protein TBLR1-RARα acts as an oncogene to induce murine promyelocytic leukemia: identification and treatment strategies.1

Citation

Dessen P

TBL1XR1 (TBL1X receptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47600/tbl1xr1-(tbl1x-receptor-1)