• Gene id: 6498

Gene Summary

• Gene Symbol: SKIL   Gene   UCSC   Ensembl
• Aliases: SNO, SnoA, SnoI, SnoN
• Gene name: SKI like proto-oncogene
• Alternate names: ski-like protein, SKI-like oncogene, ski-related oncogene snoN,
• Gene location: 3q26.2 (170357677: 170396848)     Exons: 9     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-respons
• OMIM: 165340

Protein Summary

• Protein general information: P12757  
  • Name: Ski like protein (Ski related oncogene) (Ski related protein)
  • Length: 684  
  • Mass: 76976
  • Tissue specificity: Isoform SNON and isoform SNOA are widely expressed. Highest expression is found in skeletal muscle, followed by placenta and lung. Lowest expression in heart, brain and pancreas. Isoform SNOI expression is restricted to skeletal muscle
• Sequence:

  MENLQTNFSLVQGSTKKLNGMGDDGSPPAKKMITDIHANGKTINKVPTVKKEHLDDYGEAPVETDGEHVKRTCTS
  VPETLHLNPSLKHTLAQFHLSSQSSLGGPAAFSARHSQESMSPTVFLPLPSPQVLPGPLLIPSDSSTELTQTVLE
  GESISCFQVGGEKRLCLPQVLNSVLREFTLQQINTVCDELYIYCSRCTSDQLHILKVLGILPFNAPSCGLITLTD
  AQRLCNALLRPRTFPQNGSVLPAKSSLAQLKETGSAFEVEHECLGKCQGLFAPQFYVQPDAPCIQCLECCGMFAP
  QTFVMHSHRSPDKRTCHWGFESAKWHCYLHVNQKYLGTPEEKKLKIILEEMKEKFSMRSGKRNQSKTDAPSGMEL
  QSWYPVIKQEGDHVSQTHSFLHPSYYLYMCDKVVAPNVSLTSAVSQSKELTKTEASKSISRQSEKAHSSGKLQKT
  VSYPDVSLEEQEKMDLKTSRELCSRLDASISNNSTSKRKSESATCNLVRDINKVGIGLVAAASSPLLVKDVICED
  DKGKIMEEVMRTYLKQQEKLNLILQKKQQLQMEVKMLSSSKSMKELTEEQQNLQKELESLQNEHAQRMEEFYVEQ
  KDLEKKLEQIMKQKCTCDSNLEKDKEAEYAGQLAELRQRLDHAEADRQELQDELRQEREARQKLEMMIKELKLQI
  LKSSKTAKE

• Structural information:
  • Interpro: IPR014890  IPR009061  IPR010919  IPR028373  IPR003380   IPR037000  IPR023216  
  • PDB: 3EQ5 5C4V
  • PDBsum: 3EQ5 5C4V
  • DIP: 42138
  • STRING: ENSP00000415243
• Other Databases: GeneCards:  SKIL  Malacards:  SKIL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0030514	negative regulation of BMP signaling pathway	IBA	biological process
GO:0046332	SMAD binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0046332	SMAD binding	IEA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050772	positive regulation of axonogenesis	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:1902231	positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:1902043	positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA	biological process
GO:0070306	lens fiber cell differentiation	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0007050	cell cycle arrest	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0002260	lymphocyte homeostasis	IEA	biological process
GO:0001825	blastocyst formation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R