• Gene id: 6907

Gene Summary

• Gene Symbol: TBL1X   Gene   UCSC   Ensembl
• Aliases: CHNG8, EBI, SMAP55, TBL1
• Gene name: transducin beta like 1 X-linked
• Alternate names: F-box-like/WD repeat-containing protein TBL1X, transducin beta like 1X-linked, transducin beta-like protein 1X, transducin-beta-like protein 1, X-linked,
• Gene location: Xp22.31-p22.2 (9463294: 9719739)     Exons: 20     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 617216

Protein Summary

• Protein general information: O60907  
  • Name: F box like/WD repeat containing protein TBL1X (SMAP55) (Transducin beta like protein 1X) (Transducin beta like protein 1, X linked)
  • Length: 577  
  • Mass: 62496
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MTELAGASSSCCHRPAGRGAMQSVLHHFQRLRGREGGSHFINTSSPRGEAKMSITSDEVNFLVYRYLQESGFSHS
  AFTFGIESHISQSNINGTLVPPAALISILQKGLQYVEAEISINEDGTVFDGRPIESLSLIDAVMPDVVQTRQQAF
  REKLAQQQASAAAAAAAATAAATAATTTSAGVSHQNPSKNREATVNGEENRAHSVNNHAKPMEIDGEVEIPSSKA
  TVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNG
  TLLATGSYDGFARIWTEDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHTGEAKQQFPFHSAPAL
  DVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQGHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQEVCIHDL
  QAHNKEIYTIKWSPTGPATSNPNSNIMLASASFDSTVRLWDIERGVCTHTLTKHQEPVYSVAFSPDGKYLASGSF
  DKCVHIWNTQSGNLVHSYRGTGGIFEVCWNARGDKVGASASDGSVCVLDLRK

• Structural information:
  • Protein Domains: (55..8-)
    (/note="LisH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00126-)
    (92..13-)
    (/note="F-box-like"-)
  • Interpro: IPR020472  IPR006594  IPR011047  IPR015943  IPR001680   IPR019775  IPR017986  IPR036322  
  • Prosite: PS50896 PS00678 PS50082 PS50294
  • PDB: 2XTC 2XTD 2XTE
  • PDBsum: 2XTC 2XTD 2XTE
  • DIP: 60532
  • STRING: ENSP00000217964
• Other Databases: GeneCards:  TBL1X  Malacards:  TBL1X

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000118	histone deacetylase complex	IBA	cellular component
GO:0016575	histone deacetylation	IBA	biological process
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0050821	protein stabilization	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0042393	histone binding	IDA	molecular function
GO:0000118	histone deacetylase complex	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006508	proteolysis	IMP	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003714	transcription corepressor activity	IGI	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000118	histone deacetylase complex	IBA	cellular component
GO:0016575	histone deacetylation	IBA	biological process
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0050821	protein stabilization	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0042393	histone binding	IDA	molecular function
GO:0000118	histone deacetylase complex	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006508	proteolysis	IMP	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003714	transcription corepressor activity	IGI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq