Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79718
Gene name Gene Name - the full gene name approved by the HGNC.
TBL1X/Y related 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBL1XR1
Synonyms (NCBI Gene) Gene synonyms aliases
C21, DC42, IRA1, MRD41, TBLR1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and hi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs753533374 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs786205859 C>T Pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs878854401 T>C Pathogenic Missense variant, coding sequence variant
rs878854402 T>C Pathogenic Missense variant, coding sequence variant
rs1057517933 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019306 hsa-miR-148b-3p Microarray 17612493
MIRT023246 hsa-miR-122-5p Microarray 17612493
MIRT030705 hsa-miR-21-5p Microarray 18591254
MIRT047851 hsa-miR-30c-5p CLASH 23622248
MIRT091138 hsa-miR-548c-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IBA
GO:0000118 Component Histone deacetylase complex IDA 18326024
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12628926
GO:0000976 Function Transcription cis-regulatory region binding IDA 18193033
GO:0000976 Function Transcription cis-regulatory region binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608628 29529 ENSG00000177565
Protein
UniProt ID Q9BZK7
Protein name F-box-like/WD repeat-containing protein TBL1XR1 (Nuclear receptor corepressor/HDAC3 complex subunit TBLR1) (TBL1-related protein 1) (Transducin beta-like 1X-related protein 1)
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
PDB 4LG9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08513 LisH 6 32 LisH Domain
PF00400 WD40 160 197 WD domain, G-beta repeat Repeat
PF00400 WD40 211 253 WD domain, G-beta repeat Repeat
PF00400 WD40 256 294 WD domain, G-beta repeat Repeat
PF00400 WD40 339 377 WD domain, G-beta repeat Repeat
PF00400 WD40 432 470 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed including the pituitary, hypothalamus, white and brown adipose tissue, muscle and liver. {ECO:0000269|PubMed:26769062}.
Sequence
MSISSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGALVPPAALISIIQKGLQYV
EAEVSINEDGTLFDGRPIESLSLIDAVMPDVVQTRQQAYRDKLAQQQAAAAAAAAAAASQ
QGSAKNGENTANGEENGAHTIANNHTDMMEVDGDVEIPPNKAVVLRGHESEVFICAWNPV
SDLLASGSGDSTARIWN
LSENSTSGSTQLVLRHCIREGGQDVPSNKDVTSLDWNSEGTLL
ATGSYDGFARIWT
KDGNLASTLGQHKGPIFALKWNKKGNFILSAGVDKTTIIWDAHTGEA
KQQFPFHSAPALDVDWQSNNTFASCSTDMCIHVCKLGQDRPIKTFQGHTNEVNAIKWDPT
GNLLASCSDDMTLKIWS
MKQDNCVHDLQAHNKEIYTIKWSPTGPGTNNPNANLMLASASF
DSTVRLWDVDRGICIHTLTKHQEPVYSVAFSPDGRYLASGSFDKCVHIWNTQTGALVHSY
RGTGGIFEVCWNAAGDKVGASASDGSVCVLDLRK
Sequence length 514
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Wnt signaling pathway   RORA activates gene expression
PPARA activates gene expression
Transcriptional activation of mitochondrial biogenesis
Activation of gene expression by SREBF (SREBP)
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
HDACs deacetylate histones
Notch-HLH transcription pathway
Transcriptional regulation of white adipocyte differentiation
Regulation of lipid metabolism by PPARalpha
Circadian Clock
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
HCMV Early Events
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal dominant 41, intellectual disability rs786205859, rs1135401760, rs1716457622, rs1553808301, rs1577017863, rs2108414289, rs1553813646, rs878854401, rs1057517933, rs1576994053 N/A
Pierpont Syndrome pierpont syndrome rs1057517933, rs1576993654, rs1057524343, rs1577018466, rs1577029680, rs1577029136, rs1560098548, rs1716848997, rs878854401, rs1716920045, rs878854402, rs1553808301, rs1576993734, rs1576982808 N/A
Diffuse Lymphoma Malignant lymphoma, large B-cell, diffuse rs878854402 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Asthma Asthma, Asthma (childhood onset), Atopic asthma, Asthma (adult onset), Age of onset of childhood onset asthma, Asthma in any disease N/A N/A GWAS
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 29802748
Adrenal Hyperplasia Congenital Associate 2303461
Arthrogryposis Associate 36691917
Atypical Squamous Cells of the Cervix Associate 34436017
Autism Spectrum Disorder Associate 23160955, 28588275, 37171308
Autistic Disorder Associate 23160955, 26740553, 26769062
Body Dysmorphic Disorders Associate 29038029
Breast Neoplasms Associate 15326299, 19706770, 26899600, 33962648
Carcinogenesis Inhibit 19706770
Carcinoma Non Small Cell Lung Associate 35475502