TBL1X

Protein identityUniProt · HPA

UniProt accession

O60907

Gene

TBL1X

Ensembl

ENSG00000101849

Chromosome

X

Canonical length

577 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli

Quaternary structure

Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

577 residues, UniProt reviewed canonical sequence.

>O60907|TBL1X
     1  MTELAGASSS CCHRPAGRGA MQSVLHHFQR LRGREGGSHF INTSSPRGEA KMSITSDEVN
    61  FLVYRYLQES GFSHSAFTFG IESHISQSNI NGTLVPPAAL ISILQKGLQY VEAEISINED
   121  GTVFDGRPIE SLSLIDAVMP DVVQTRQQAF REKLAQQQAS AAAAAAAATA AATAATTTSA
   181  GVSHQNPSKN REATVNGEEN RAHSVNNHAK PMEIDGEVEI PSSKATVLRG HESEVFICAW
   241  NPVSDLLASG SGDSTARIWN LNENSNGGST QLVLRHCIRE GGHDVPSNKD VTSLDWNTNG
   301  TLLATGSYDG FARIWTEDGN LASTLGQHKG PIFALKWNRK GNYILSAGVD KTTIIWDAHT
   361  GEAKQQFPFH SAPALDVDWQ NNTTFASCST DMCIHVCRLG CDRPVKTFQG HTNEVNAIKW
   421  DPSGMLLASC SDDMTLKIWS MKQEVCIHDL QAHNKEIYTI KWSPTGPATS NPNSNIMLAS
   481  ASFDSTVRLW DIERGVCTHT LTKHQEPVYS VAFSPDGKYL ASGSFDKCVH IWNTQSGNLV
   541  HSYRGTGGIF EVCWNARGDK VGASASDGSV CVLDLRK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBL1X can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

41 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBL1X.

Disease | AllUniProt

Conditions TBL1X is implicated in, by any mechanism.

• Hypothyroidism, congenital, non-goitrous, 8 (CHNG8) MIM:301033

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 218 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypothyroidism, congenital, nongoitrous, 8

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.31

gnomAD pLI

0.98

gnomAD missense Z

2.48

DepMap mean gene effect

0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of transcription by RNA polymerase II
• positive regulation of canonical Wnt signaling pathway
• positive regulation of DNA-templated transcription
• positive regulation of transcription by RNA polymerase II
• proteasome-mediated ubiquitin-dependent protein catabolic process
• protein stabilization
• proteolysis
• regulation of transcription by RNA polymerase II
• sensory perception of sound

Molecular functions

• histone binding
• identical protein binding
• transcription cis-regulatory region binding
• transcription corepressor activity

Cellular components

• histone deacetylase complex
• mitotic spindle
• nucleoplasm
• nucleus
• transcription repressor complex

Protein domainsUniProt · Pfam · InterPro

• WD40 repeat
• LIS1 homology motif
• Quinoprotein alcohol dehydrogenase-like superfamily
• WD40/YVTN repeat-like-containing domain superfamily
• WD40 repeat, conserved site
• PAC1/LIS1-like, WD-40 repeat
• WD40-repeat-containing domain superfamily
• F-box-like/WD repeat-containing protein Ebi-like
• WD domain, G-beta repeat
• LisH

KeywordsUniProt

• Acetylation
• Activator
• Congenital hypothyroidism
• Deafness
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Repeat
• Transcription
• Transcription regulation
• Ubl conjugation
• Ubl conjugation pathway
• WD repeat

InteractionsUniProt · HPA

Protein binding partners of TBL1X in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GPS2
• H4
• MECP2
• USP44