• Gene id: 6497

Gene Summary

• Gene Symbol: SKI   Gene   UCSC   Ensembl
• Aliases: SGS, SKV
• Gene name: SKI proto-oncogene
• Alternate names: ski oncogene, proto-oncogene c-Ski, ski oncoprotein, v-ski avian sarcoma viral oncogene homolog,
• Gene location: 1p36.33-p36.32 (2228318: 2310212)     Exons: 9     NC_000001.11
• Gene summary(Entrez): This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 200
• OMIM: 164780

Protein Summary

• Protein general information: P12755  
  • Name: Ski oncogene (Proto oncogene c Ski)
  • Length: 728  
  • Mass: 80005
• Sequence:

  MEAAAGGRGCFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAAAVPAPVPAATEPPPVLH
  LPAIQPPPPVLPGPFFMPSDRSTERCETVLEGETISCFVVGGEKRLCLPQILNSVLRDFSLQQINAVCDELHIYC
  SRCTADQLEILKVMGILPFSAPSCGLITKTDAERLCNALLYGGAYPPPCKKELAASLALGLELSERSVRVYHECF
  GKCKGLLVPELYSSPSAACIQCLDCRLMYPPHKFVVHSHKALENRTCHWGFDSANWRAYILLSQDYTGKEEQARL
  GRCLDDVKEKFDYGNKYKRRVPRVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLAGSSNKSLGCVHPRQR
  LSAFRPWSPAVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVALAPPAQQKVVSSPPCAAAVSRAPEPLATCT
  QPRKRKLTVDTPGAPETLAPVAAPEEDKDSEAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAV
  PDAAAPADAPSGLEAELEHLRQALEGGLDTKEAKEKFLHEVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKE
  KLREATEAKRNLRKEIERLRAENEKKMKEANESRLRLKRELEQARQARVCDKGCEAGRLRAKYSAQIEDLQVKLQ
  HAEADREQLRADLLREREAREHLEKVVKELQEQLWPRARPEAAGSEGAAELEP

• Structural information:
  • Interpro: IPR014890  IPR009061  IPR010919  IPR028760  IPR003380   IPR037000  IPR023216  
  • PDB: 1MR1 1SBX 5XOD
  • PDBsum: 1MR1 1SBX 5XOD
  • DIP: 31514
  • STRING: ENSP00000367797
• Other Databases: GeneCards:  SKI  Malacards:  SKI

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:0046332	SMAD binding	IBA	molecular function
GO:0030514	negative regulation of BMP signaling pathway	IBA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0046332	SMAD binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IGI	biological process
GO:0010626	negative regulation of Schwann cell proliferation	IGI	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0030509	BMP signaling pathway	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: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: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:0046811	histone deacetylase inhibitor activity	ISS	molecular function
GO:0021772	olfactory bulb development	ISS	biological process
GO:0030177	positive regulation of Wnt signaling pathway	NAS	biological process
GO:0030326	embryonic limb morphogenesis	ISS	biological process
GO:0043010	camera-type eye development	ISS	biological process
GO:0048741	skeletal muscle fiber development	ISS	biological process
GO:0048870	cell motility	NAS	biological process
GO:0060041	retina development in camera-type eye	ISS	biological process
GO:0060325	face morphogenesis	ISS	biological process
GO:0001843	neural tube closure	ISS	biological process
GO:0002089	lens morphogenesis in camera-type eye	ISS	biological process
GO:0005667	transcription regulator complex	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	NAS	biological process
GO:0009948	anterior/posterior axis specification	ISS	biological process
GO:0017053	transcription repressor complex	ISS	cellular component
GO:0022011	myelination in peripheral nervous system	ISS	biological process
GO:0035019	somatic stem cell population maintenance	ISS	biological process
GO:0043585	nose morphogenesis	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0048147	negative regulation of fibroblast proliferation	ISS	biological process
GO:0048593	camera-type eye morphogenesis	ISS	biological process
GO:0060021	roof of mouth development	ISS	biological process
GO:0060349	bone morphogenesis	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0031064	negative regulation of histone deacetylation	IEA	biological process
GO:0032926	negative regulation of activin receptor signaling pathway	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0045668	negative regulation of osteoblast differentiation	IDA	biological process
GO:0030514	negative regulation of BMP signaling pathway	IDA	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0043388	positive regulation of DNA binding	IDA	biological process
GO:0014902	myotube differentiation	IDA	biological process
GO:0016605	PML body	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0046332	SMAD binding	IPI	molecular function
GO:0046332	SMAD binding	IPI	molecular function
GO:0046332	SMAD binding	IPI	molecular function
GO:0030514	negative regulation of BMP signaling pathway	IMP	biological process
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0070491	repressing transcription factor binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Shprintzen-Goldberg syndrome	KEGG:H00659
Shprintzen-Goldberg syndrome	KEGG:H00659
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray