TBL1Y

Protein identityUniProt · HPA

UniProt accession

Q9BQ87

Gene

TBL1Y

Ensembl

ENSG00000092377

Chromosome

Y

Canonical length

522 aa

Protein class

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

Subcellular location

Nucleoplasm

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 gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

522 residues, UniProt reviewed canonical sequence.

>Q9BQ87|TBL1Y
     1  MSITSDEVNF LVYRYLQESG FSHSAFTFGI ESHISQSNIN GTLVPPSALI SILQKGLQYV
    61  EAEISINKDG TVFDSRPIES LSLIVAVIPD VVQMRQQAFG EKLTQQQASA AATEASAMAK
   121  AATMTPAAIS QQNPPKNREA TVNGEENGAH EINNHSKPME IDGDVEIPPN KATVLRGHES
   181  EVFICAWNPV SDLLASGSGD STARIWNLNE NSNGGSTQLV LRHCIREGGH DVPSNKDVTS
   241  LDWNSDGTLL AMGSYDGFAR IWTENGNLAS TLGQHKGPIF ALKWNKKGNY VLSAGVDKTT
   301  IIWDAHTGEA KQQFPFHSAP ALDVDWQNNM TFASCSTDMC IHVCRLGCDH PVKTFQGHTN
   361  EVNAIKWDPS GMLLASCSDD MTLKIWSMKQ DACVHDLQAH SKEIYTIKWS PTGPATSNPN
   421  SSIMLASASF DSTVRLWDVE QGVCTHTLMK HQEPVYSVAF SPDGKYLASG SFDKYVHIWN
   481  TQSGSLVHSY QGTGGIFEVC WNARGDKVGA SASDGSVCVL DL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBL1Y 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)

0.3

Highest tissue expression

2.7 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBL1Y.

Disease | AllUniProt

Conditions TBL1Y is implicated in, by any mechanism.

• Deafness, Y-linked 2 (DFNY2) MIM:400047

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)

1.96

gnomAD pLI

0

gnomAD missense Z

-3.77

DepMap mean gene effect

0.41

DepMap dependency class

none

OntologyGO

Biological processes

• regulation of transcription by RNA polymerase II

Molecular functions

• transcription corepressor activity

Cellular components

• histone deacetylase complex
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• WD40 repeat
• LIS1 homology motif
• 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
• Deafness
• Isopeptide bond
• Non-syndromic deafness
• Nucleus
• Phosphoprotein
• Repeat
• Transcription
• Transcription regulation
• Ubl conjugation
• Ubl conjugation pathway
• WD repeat

InteractionsUniProt · HPA

Protein binding partners of TBL1Y in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NCOR2
• HDAC3