Gene Gene information from NCBI Gene database.
Entrez ID 6907
Gene name Transducin beta like 1 X-linked
Gene symbol TBL1X
Synonyms (NCBI Gene)
CHNG8EBISMAP55TBL1
Chromosome X
Chromosome location Xp22.31-p22.2
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.
4
SNP ID Visualize variation Clinical significance Consequence
rs1601844140 C>T Pathogenic Coding sequence variant, stop gained
rs1601855785 A>T Pathogenic Coding sequence variant, missense variant
rs1601857538 C>T Pathogenic Coding sequence variant, missense variant
rs1601857555 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1083
miRTarBase ID miRNA Experiments Reference
MIRT019134 hsa-miR-335-5p Microarray 18185580
MIRT024299 hsa-miR-215-5p Microarray 19074876
MIRT026920 hsa-miR-192-5p Microarray 19074876
MIRT049369 hsa-miR-92a-3p CLASH 23622248
MIRT612395 hsa-miR-676-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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:0003714 Function Transcription corepressor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300196 11585 ENSG00000101849
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60907
Protein name F-box-like/WD repeat-containing protein TBL1X (SMAP55) (Transducin beta-like protein 1X) (Transducin-beta-like protein 1, X-linked)
Protein function F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219). Plays an essential role in transcription activation mediated by nuclear receptors. Probab
PDB 2XTC , 2XTD , 2XTE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08513 LisH 57 83 LisH Domain
PF00400 WD40 223 260 WD domain, G-beta repeat Repeat
PF00400 WD40 273 316 WD domain, G-beta repeat Repeat
PF00400 WD40 319 357 WD domain, G-beta repeat Repeat
PF00400 WD40 402 440 WD domain, G-beta repeat Repeat
PF00400 WD40 444 491 WD domain, G-beta repeat Repeat
PF00400 WD40 495 533 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10330347}.
Sequence
MTELAGASSSCCHRPAGRGAMQSVLHHFQRLRGREGGSHFINTSSPRGEAKMSITSDEVN
FLVYRYLQESGFSHSAFTFGIES
HISQSNINGTLVPPAALISILQKGLQYVEAEISINED
GTVFDGRPIESLSLIDAVMPDVVQTRQQAFREKLAQQQASAAAAAAAATAAATAATTTSA
GVSHQNPSKNREATVNGEENRAHSVNNHAKPMEIDGEVEIPSSKATVLRGHESEVFICAW
NPVSDLLASGSGDSTARIWN
LNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNG
TLLATGSYDGFARIWT
EDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHT
GEAKQQFPFHSAPALDVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQGHTNEVNAIKW
DPSGMLLASCSDDMTLKIWS
MKQEVCIHDLQAHNKEIYTIKWSPTGPATSNPNSNIMLAS
ASFDSTVRLWD
IERGVCTHTLTKHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLV
HSYRGTGGIFEVCWNARGDKVGASASDGSVCVLDLRK
Sequence length 577
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypothyroidism, congenital, nongoitrous, 8 Likely pathogenic rs1601844140 RCV000852282
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma Associate 37356458
★☆☆☆☆
Found in Text Mining only
Amblyopia Associate 38462462
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 34407845
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 39390002
★☆☆☆☆
Found in Text Mining only
Deafness Associate 35339883
★☆☆☆☆
Found in Text Mining only
Diabetes Gestational Associate 30463081
★☆☆☆☆
Found in Text Mining only
Hearing Loss Associate 27603907, 35339883
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Associate 27603907
★☆☆☆☆
Found in Text Mining only
Lymphoma Large B Cell Diffuse Associate 33054136
★☆☆☆☆
Found in Text Mining only
Mental Retardation X Linked Associate 21668950
★☆☆☆☆
Found in Text Mining only