TBL1X (transducin beta like 1 X-linked)

2016-05-01 Affiliation

Identity

HGNC

TBL1X

LOCATION

Xp22.31

LOCUSID

6907

ALIAS

CHNG8,EBI,SMAP55,TBL1

FUSION GENES

Show Gene Fusions

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

Other Information

Locus ID:

NCBI: 6907
MIM: 300196
HGNC: 11585
Ensembl: ENSG00000101849

Variants:

dbSNP: 6907
ClinVar: 6907
TCGA: ENSG00000101849
COSMIC: TBL1X

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000101849	ENST00000380961	O60907
ENSG00000101849	ENST00000407597	O60907
ENSG00000101849	ENST00000407597	A0A024RBV9
ENSG00000101849	ENST00000415293	C9JYQ8
ENSG00000101849	ENST00000422314	C9JCW3
ENSG00000101849	ENST00000424279	O60907
ENSG00000101849	ENST00000441088	C9JP56
ENSG00000101849	ENST00000452824	C9J5F9
ENSG00000101849	ENST00000645353	O60907
ENSG00000101849	ENST00000645353	A0A024RBV9
ENSG00000101849	ENST00000645686	O60907
ENSG00000101849	ENST00000645686	A0A024RBV9
ENSG00000101849	ENST00000646640	O60907
ENSG00000101849	ENST00000646640	A0A024RBV9
ENSG00000101849	ENST00000647060	A0A2R8YFW3
ENSG00000101849	ENST00000647172	A0A2R8Y757

Expression (GTEx)

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

Pathway	Source	External ID
Wnt signaling pathway	KEGG	ko04310
Wnt signaling pathway	KEGG	hsa04310
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Mitochondrial biogenesis	REACTOME	R-HSA-1592230
Transcriptional activation of mitochondrial biogenesis	REACTOME	R-HSA-2151201
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
Signaling by NOTCH1 in Cancer	REACTOME	R-HSA-2644603
Signaling by NOTCH1 PEST Domain Mutants in Cancer	REACTOME	R-HSA-2644602
Constitutive Signaling by NOTCH1 PEST Domain Mutants	REACTOME	R-HSA-2644606
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	REACTOME	R-HSA-2894858
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	REACTOME	R-HSA-2894862
Signal Transduction	REACTOME	R-HSA-162582
Signaling by NOTCH	REACTOME	R-HSA-157118
Signaling by NOTCH1	REACTOME	R-HSA-1980143
NOTCH1 Intracellular Domain Regulates Transcription	REACTOME	R-HSA-2122947
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
YAP1- and WWTR1 (TAZ)-stimulated gene expression	REACTOME	R-HSA-2032785
Circadian Clock	REACTOME	R-HSA-400253
BMAL1:CLOCK,NPAS2 activates circadian gene expression	REACTOME	R-HSA-1368108
RORA activates gene expression	REACTOME	R-HSA-1368082
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	REACTOME	R-HSA-400206
PPARA activates gene expression	REACTOME	R-HSA-1989781
Regulation of cholesterol biosynthesis by SREBP (SREBF)	REACTOME	R-HSA-1655829
Activation of gene expression by SREBF (SREBP)	REACTOME	R-HSA-2426168
Developmental Biology	REACTOME	R-HSA-1266738
Transcriptional regulation of white adipocyte differentiation	REACTOME	R-HSA-381340
Chromatin organization	REACTOME	R-HSA-4839726
Chromatin modifying enzymes	REACTOME	R-HSA-3247509
HDACs deacetylate histones	REACTOME	R-HSA-3214815

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18193033	2008	TBL1-TBLR1 and beta-catenin recruit each other to Wnt target-gene promoter for transcription activation and oncogenesis.	73
15601853	2005	Reading and function of a histone code involved in targeting corepressor complexes for repression.	45
16258276	2005	Novel functional features of the Lis-H domain: role in protein dimerization, half-life and cellular localization.	32
28348241	2017	Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.	17
27603907	2016	Mutations in TBL1X Are Associated With Central Hypothyroidism.	16
26070566	2015	Exchange Factor TBL1 and Arginine Methyltransferase PRMT6 Cooperate in Protecting G Protein Pathway Suppressor 2 (GPS2) from Proteasomal Degradation.	6
26070712	2015	Transcriptional co-factor Transducin beta-like (TBL) 1 acts as a checkpoint in pancreatic cancer malignancy.	5
27129164	2016	SUMOylation of TBL1 and TBLR1 promotes androgen-independent prostate cancer cell growth.	5
23665419	2013	Prenatal smoke exposure: effects on infant auditory system and placental gene expression.	3
30463081	2018	Integrated Transcriptome Sequencing Analysis Reveals Role of miR-138-5p/ TBL1X in Placenta from Gestational Diabetes Mellitus.	3

Citation

Dessen P

TBL1X (transducin beta like 1 X-linked)

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/gene/55748/tbl1x