TBL1Y (transducin beta like 1 Y-linked)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 90665
Gene name Transducin beta like 1 Y-linked
Gene symbol TBL1Y
Synonyms (NCBI Gene)
DFNY2TBL1
Chromosome Y
Chromosome location Yp11.2
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 prot
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs199659121 A>T Pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IBA
GO:0003714 Function Transcription corepressor activity IBA
GO:0003714 Function Transcription corepressor activity IEA
GO:0005515 Function Protein binding IPI 30341416
GO:0005634 Component Nucleus IDA 30341416
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
400033 18502 ENSG00000092377
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BQ87
Protein name F-box-like/WD repeat-containing protein TBL1Y (Transducin beta-like protein 1Y) (Transducin-beta-like protein 1, Y-linked)
Protein function F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integra
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08513 LisH 6 → 32 LisH Domain
PF00400 WD40 169 → 207 WD domain, G-beta repeat Repeat
PF00400 WD40 220 → 263 WD domain, G-beta repeat Repeat
PF00400 WD40 266 → 304 WD domain, G-beta repeat Repeat
PF00400 WD40 349 → 387 WD domain, G-beta repeat Repeat
PF00400 WD40 442 → 480 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Fetal brain and prostate. Expressed in the cochlear spiral ganglion neurons, and in outer and inner hair cells (PubMed:30341416). {ECO:0000269|PubMed:12815422, ECO:0000269|PubMed:30341416}.
Sequence 
MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPSALISILQKGLQYV
EAEISINKDGTVFDSRPIESLSLIVAVIPDVVQMRQQAFGEKLTQQQASAAATEASAMAK
AATMTPAAISQQNPPKNREATVNGEENGAHEINNHSKPMEIDGDVEIPPNKATVLRGHES
EVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTS
LDWNSDGTLLAMGSYDGFARIWTENGNLASTLGQHKGPIFALKWNKKGNYVLSAGVDKTT
IIWDAHTGEAKQQFPFHSAPALDVDWQNNMTFASCSTDMCIHVCRLGCDHPVKTFQGHTN
EVNAIKWDPSGMLLASCSDDMTLKIWSMKQDACVHDLQAHSKEIYTIKWSPTGPATSNPN
SSIMLASASFDSTVRLWDVEQGVCTHTLMKHQEPVYSVAFSPDGKYLASGSFDKYVHIWN
TQSGSLVHSYQGTGGIFEVCWNARGDKVGASASDGSVCVLDL
Sequence length 522
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Wnt signaling pathway  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Deafness, Y-linked 2 Uncertain significance; Benign; Likely benign rs199659121, rs77259694 RCV000767399
RCV002495397
Hepatocellular carcinoma Benign; Likely benign rs77259694 RCV005906087
TBL1Y-related disorder Likely benign; Benign rs377026718, rs779411676, rs77259694 RCV003894638
RCV003902167
RCV003930818
Thyroid cancer, nonmedullary, 1 Benign; Likely benign rs77259694 RCV005906088
Show/Hide Text Mining Associations (13)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Albinism Ocular Associate 10330347
Amelogenesis Imperfecta Associate 33903958
Breast Neoplasms Stimulate 21189284
Breast Neoplasms Associate 30705280
Colorectal Neoplasms Associate 26071132
Deafness X Linked 1 Associate 10330347
Hearing Loss Associate 30341416
Hearing Loss Sensorineural Associate 10330347
Inflammation Associate 27129164
Neoplasm Metastasis Associate 30705280