Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6907
Gene name Gene Name - the full gene name approved by the HGNC.
Transducin beta like 1 X-linked
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBL1X
Synonyms (NCBI Gene) Gene synonyms aliases
CHNG8, EBI, SMAP55, TBL1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CHNG8
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.31-p22.2
Summary Summary of gene provided in NCBI Entrez 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 prot
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IBA 21873635
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 regulatory region sequence-specific DNA binding IDA 18193033
GO:0003714 Function Transcription corepressor activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300196 11585 ENSG00000101849
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728
View all (51 more)
22050706
Unknown
Disease term Disease name Evidence References Source
Hypothyroidism hypothyroidism, congenital, nongoitrous, 8 GenCC
Diabetes Diabetes GWAS
Coronary artery disease Coronary artery disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 37356458
Amblyopia Associate 38462462
Breast Neoplasms Associate 34407845
Colorectal Neoplasms Associate 39390002
Deafness Associate 35339883
Diabetes Gestational Associate 30463081
Hearing Loss Associate 27603907, 35339883
Hypothyroidism Associate 27603907
Lymphoma Large B Cell Diffuse Associate 33054136
Mental Retardation X Linked Associate 21668950