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Gene: TBL1X (transducin beta like 1 X-linked) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on TBL1X
Alliance Gene
NCBI 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



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