TBL1X

GENE INFORMATION

? »

Gene name

TBL1X (HGNC Symbol)

Synonyms

EBI, TBL1

Description

Transducin (beta)-like 1X-linked (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]

Chromosome

X

Cytoband

p22.2

Chromosome location (bp)

9431335 - 9687780

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000101849 (version 75.37)

Entrez gene

6907

UniProt

O60907 (UniProt - Evidence at protein level)

neXtProt

NX_O60907

Antibodypedia

TBL1X antibodies
 

PROTEIN VIEW

? »
 
 
 
TBL1X-001
 
TBL1X-002
 
TBL1X-003
 
TBL1X-004
 
TBL1X-005
 
TBL1X-006
 
TBL1X-201
 
TBL1X-202
 
TBL1X-203
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TBL1X-001 ENSP00000397878
ENST00000452824
C9J5F9
Show all »
Show » 80 8.8 No 0
TBL1X-002 ENSP00000370348
ENST00000380961
O60907
Show all »
Show » Show » 526 57 No 0
TBL1X-003 ENSP00000217964
ENST00000217964
O60907
Show all »
Show » Show » 577 62.5 No 0
TBL1X-004 ENSP00000402923
ENST00000441088
C9JP56
Show all »
Show » 59 6.3 No 0
TBL1X-005 ENSP00000407069
ENST00000415293
C9JYQ8
Show all »
Show » Show » 75 8.2 No 0
TBL1X-006 ENSP00000415508
ENST00000422314
C9JCW3
Show all »
Show » Show » 45 5 No 0
TBL1X-201 ENSP00000385988
ENST00000407597
O60907
Show all »
Show » Show » 577 62.5 No 0
TBL1X-202 ENSP00000394097
ENST00000424279
O60907
Show all »
Show » Show » 526 57 No 0
TBL1X-203 ENSP00000445317
ENST00000536365
O60907
Show all »
Show » Show » 526 57 No 0