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Gene: TBL1X (transducin beta like 1 X-linked) Homo sapiens
Symbol: TBL1X
Name: transducin beta like 1 X-linked
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EBI; F-box-like/WD repeat-containing protein TBL1X; SMAP55; TBL1; transducin (beta)-like 1X-linked; transducin beta like 1X-linked; transducin beta-like protein 1X; transducin-beta-like protein 1, X-linked
Mus musculus (house mouse) : Tbl1x (transducin (beta)-like 1 X-linked)  MGI  Alliance
Rattus norvegicus (Norway rat) : Tbl1x (transducin (beta)-like 1 X-linked)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Tbl1x (transducin beta like 1 X-linked)
Pan paniscus (bonobo/pygmy chimpanzee) : TBL1X (transducin beta like 1 X-linked)
Canis lupus familiaris (dog) : TBL1X (transducin beta like 1 X-linked)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Tbl1x (transducin beta like 1 X-linked)
Sus scrofa (pig) : TBL1X (transducin beta like 1 X-linked)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X9,463,295 - 9,719,740 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X9,431,335 - 9,687,780 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X9,393,048 - 9,647,778 (+)NCBINCBI36hg18NCBI36
Build 34X9,242,774 - 9,497,513NCBI
CeleraX13,603,270 - 13,859,701 (+)NCBI
Cytogenetic MapXp22.31-p22.2NCBI
HuRefX7,267,520 - 7,520,083 (+)NCBIHuRef
CHM1_1X9,461,907 - 9,718,276 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on TBL1X
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1346534
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.