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Protein

Ski oncogene

Gene

SKI

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling.1 Publication

GO - Molecular functioni

  • chromatin binding Source: GO_Central
  • histone deacetylase inhibitor activity Source: BHF-UCL
  • protein domain specific binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB
  • repressing transcription factor binding Source: UniProtKB
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: GO_Central
  • SMAD binding Source: UniProtKB
  • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: GO_Central
  • transcription corepressor activity Source: UniProtKB
  • ubiquitin protein ligase binding Source: UniProtKB
  • zinc ion binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000157933-MONOMER.
ReactomeiR-HSA-201451. Signaling by BMP.
R-HSA-2173795. Downregulation of SMAD2/3:SMAD4 transcriptional activity.
SignaLinkiP12755.
SIGNORiP12755.

Names & Taxonomyi

Protein namesi
Recommended name:
Ski oncogene
Alternative name(s):
Proto-oncogene c-Ski
Gene namesi
Name:SKI
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:10896. SKI.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: MGI
  • cytoplasm Source: BHF-UCL
  • nuclear body Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • PML body Source: UniProtKB
  • protein complex Source: MGI
  • transcriptional repressor complex Source: BHF-UCL
  • transcription factor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Shprintzen-Goldberg craniosynostosis syndrome (SGS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.
See also OMIM:182212
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07117021L → R in SGS. 1 Publication1
Natural variantiVAR_07165928S → T in SGS. 1 Publication1
Natural variantiVAR_07117131S → L in SGS. 2 Publications1
Natural variantiVAR_07117232L → P in SGS. 1 Publication1
Natural variantiVAR_07117332L → V in SGS. 3 PublicationsCorresponds to variant rs387907304dbSNPEnsembl.1
Natural variantiVAR_07166034G → A in SGS. 1 Publication1
Natural variantiVAR_07117434G → C in SGS. 2 PublicationsCorresponds to variant rs387907306dbSNPEnsembl.1
Natural variantiVAR_07117534G → D in SGS. 2 PublicationsCorresponds to variant rs387907305dbSNPEnsembl.1
Natural variantiVAR_07117634G → S in SGS. 3 PublicationsCorresponds to variant rs387907306dbSNPEnsembl.1
Natural variantiVAR_07117734G → V in SGS. 2 PublicationsCorresponds to variant rs387907305dbSNPEnsembl.1
Natural variantiVAR_07117835P → Q in SGS. 1 PublicationCorresponds to variant rs397514589dbSNPEnsembl.1
Natural variantiVAR_07117935P → S in SGS. 4 PublicationsCorresponds to variant rs397514590dbSNPEnsembl.1
Natural variantiVAR_07118094 – 97Missing in SGS. 1 Publication4
Natural variantiVAR_07118195 – 97Missing in SGS. 2 Publications3
Natural variantiVAR_071182116G → E in SGS. 2 PublicationsCorresponds to variant rs387907303dbSNPEnsembl.1
Natural variantiVAR_071183117G → R in SGS. 1 Publication1

Keywords - Diseasei

Craniosynostosis, Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNETi6497.
MalaCardsiSKI.
MIMi182212. phenotype.
OpenTargetsiENSG00000157933.
Orphaneti1606. 1p36 deletion syndrome.
2462. Shprintzen-Goldberg syndrome.
PharmGKBiPA35796.

Polymorphism and mutation databases

BioMutaiSKI.
DMDMi134517.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001293821 – 728Ski oncogeneAdd BLAST728

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei383PhosphoserineCombined sources1
Modified residuei432PhosphoserineCombined sources1
Modified residuei480PhosphoserineCombined sources1
Modified residuei720PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP12755.
MaxQBiP12755.
PaxDbiP12755.
PeptideAtlasiP12755.
PRIDEiP12755.

PTM databases

iPTMnetiP12755.
PhosphoSitePlusiP12755.

Expressioni

Gene expression databases

BgeeiENSG00000157933.
CleanExiHS_SKI.
GenevisibleiP12755. HS.

Organism-specific databases

HPAiCAB010449.

Interactioni

Subunit structurei

Interacts with SMAD2, SMAD3 and SMAD4. Interacts with HIPK2. Part of a complex with HIPK2 and SMAD1/2/3. Interacts with PRDM16 and SMAD3; the interaction with PRDM16 promotes the recruitment SMAD3-HDAC1 complex on the promoter of TGF-beta target genes.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Fam89bQ9QUI16EBI-347281,EBI-6503100From a different organism.
NCOR1O753764EBI-347281,EBI-347233
Ncor1Q609745EBI-347281,EBI-349004From a different organism.
SIN3AQ96ST33EBI-347281,EBI-347218
SMAD3P840228EBI-347281,EBI-347161
SMAD4Q1348512EBI-347281,EBI-347263

GO - Molecular functioni

  • protein domain specific binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB
  • repressing transcription factor binding Source: UniProtKB
  • SMAD binding Source: UniProtKB
  • ubiquitin protein ligase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi112388. 121 interactors.
DIPiDIP-31514N.
IntActiP12755. 15 interactors.
MINTiMINT-269973.
STRINGi9606.ENSP00000367797.

Structurei

Secondary structure

1728
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi101 – 105Combined sources5
Beta strandi108 – 115Combined sources8
Beta strandi118 – 122Combined sources5
Helixi123 – 127Combined sources5
Turni128 – 133Combined sources6
Helixi136 – 145Combined sources10
Helixi155 – 163Combined sources9
Beta strandi175 – 178Combined sources4
Helixi179 – 190Combined sources12
Beta strandi219 – 222Combined sources4
Beta strandi228 – 232Combined sources5
Helixi234 – 236Combined sources3
Beta strandi245 – 247Combined sources3
Turni248 – 250Combined sources3
Helixi256 – 259Combined sources4
Beta strandi269 – 275Combined sources7
Helixi278 – 280Combined sources3
Helixi281 – 284Combined sources4
Helixi296 – 310Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1MR1X-ray2.85C/D219-313[»]
1SBXX-ray1.65A91-192[»]
ProteinModelPortaliP12755.
SMRiP12755.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP12755.

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili536 – 710Sequence analysisAdd BLAST175

Sequence similaritiesi

Belongs to the SKI family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IFDK. Eukaryota.
ENOG410Y8AU. LUCA.
GeneTreeiENSGT00530000063040.
HOGENOMiHOG000039989.
HOVERGENiHBG006599.
InParanoidiP12755.
OMAiARQIRVC.
OrthoDBiEOG091G0O02.
PhylomeDBiP12755.
TreeFamiTF324133.

Family and domain databases

Gene3Di3.10.260.20. 1 hit.
3.10.390.10. 1 hit.
InterProiIPR014890. c-SKI_SMAD4-bd_dom.
IPR009061. DNA-bd_dom_put.
IPR010919. SAND_dom-like.
IPR028760. Ski.
IPR003380. Transform_Ski.
IPR023216. Tscrpt_reg_SKI_SnoN.
[Graphical view]
PANTHERiPTHR10005. PTHR10005. 2 hits.
PTHR10005:SF15. PTHR10005:SF15. 2 hits.
PfamiPF08782. c-SKI_SMAD_bind. 1 hit.
PF02437. Ski_Sno. 1 hit.
[Graphical view]
SMARTiSM01046. c-SKI_SMAD_bind. 1 hit.
[Graphical view]
SUPFAMiSSF46955. SSF46955. 1 hit.
SSF63763. SSF63763. 1 hit.

Sequencei

Sequence statusi: Complete.

P12755-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEAAAGGRGC FQPHPGLQKT LEQFHLSSMS SLGGPAAFSA RWAQEAYKKE
60 70 80 90 100
SAKEAGAAAV PAPVPAATEP PPVLHLPAIQ PPPPVLPGPF FMPSDRSTER
110 120 130 140 150
CETVLEGETI SCFVVGGEKR LCLPQILNSV LRDFSLQQIN AVCDELHIYC
160 170 180 190 200
SRCTADQLEI LKVMGILPFS APSCGLITKT DAERLCNALL YGGAYPPPCK
210 220 230 240 250
KELAASLALG LELSERSVRV YHECFGKCKG LLVPELYSSP SAACIQCLDC
260 270 280 290 300
RLMYPPHKFV VHSHKALENR TCHWGFDSAN WRAYILLSQD YTGKEEQARL
310 320 330 340 350
GRCLDDVKEK FDYGNKYKRR VPRVSSEPPA SIRPKTDDTS SQSPAPSEKD
360 370 380 390 400
KPSSWLRTLA GSSNKSLGCV HPRQRLSAFR PWSPAVSASE KELSPHLPAL
410 420 430 440 450
IRDSFYSYKS FETAVAPNVA LAPPAQQKVV SSPPCAAAVS RAPEPLATCT
460 470 480 490 500
QPRKRKLTVD TPGAPETLAP VAAPEEDKDS EAEVEVESRE EFTSSLSSLS
510 520 530 540 550
SPSFTSSSSA KDLGSPGARA LPSAVPDAAA PADAPSGLEA ELEHLRQALE
560 570 580 590 600
GGLDTKEAKE KFLHEVVKMR VKQEEKLSAA LQAKRSLHQE LEFLRVAKKE
610 620 630 640 650
KLREATEAKR NLRKEIERLR AENEKKMKEA NESRLRLKRE LEQARQARVC
660 670 680 690 700
DKGCEAGRLR AKYSAQIEDL QVKLQHAEAD REQLRADLLR EREAREHLEK
710 720
VVKELQEQLW PRARPEAAGS EGAAELEP
Length:728
Mass (Da):80,005
Last modified:October 1, 1989 - v1
Checksum:i9B78C4840A28C2DA
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07117021L → R in SGS. 1 Publication1
Natural variantiVAR_07165928S → T in SGS. 1 Publication1
Natural variantiVAR_07117131S → L in SGS. 2 Publications1
Natural variantiVAR_07117232L → P in SGS. 1 Publication1
Natural variantiVAR_07117332L → V in SGS. 3 PublicationsCorresponds to variant rs387907304dbSNPEnsembl.1
Natural variantiVAR_07166034G → A in SGS. 1 Publication1
Natural variantiVAR_07117434G → C in SGS. 2 PublicationsCorresponds to variant rs387907306dbSNPEnsembl.1
Natural variantiVAR_07117534G → D in SGS. 2 PublicationsCorresponds to variant rs387907305dbSNPEnsembl.1
Natural variantiVAR_07117634G → S in SGS. 3 PublicationsCorresponds to variant rs387907306dbSNPEnsembl.1
Natural variantiVAR_07117734G → V in SGS. 2 PublicationsCorresponds to variant rs387907305dbSNPEnsembl.1
Natural variantiVAR_07117835P → Q in SGS. 1 PublicationCorresponds to variant rs397514589dbSNPEnsembl.1
Natural variantiVAR_07117935P → S in SGS. 4 PublicationsCorresponds to variant rs397514590dbSNPEnsembl.1
Natural variantiVAR_07118094 – 97Missing in SGS. 1 Publication4
Natural variantiVAR_07118195 – 97Missing in SGS. 2 Publications3
Natural variantiVAR_071182116G → E in SGS. 2 PublicationsCorresponds to variant rs387907303dbSNPEnsembl.1
Natural variantiVAR_071183117G → R in SGS. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X15218 mRNA. Translation: CAA33288.1.
AL590822 Genomic DNA. No translation available.
CCDSiCCDS39.1.
PIRiS06053. TVHUSK.
RefSeqiNP_003027.1. NM_003036.3.
UniGeneiHs.656507.

Genome annotation databases

EnsembliENST00000378536; ENSP00000367797; ENSG00000157933.
GeneIDi6497.
KEGGihsa:6497.
UCSCiuc001aja.5. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X15218 mRNA. Translation: CAA33288.1.
AL590822 Genomic DNA. No translation available.
CCDSiCCDS39.1.
PIRiS06053. TVHUSK.
RefSeqiNP_003027.1. NM_003036.3.
UniGeneiHs.656507.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1MR1X-ray2.85C/D219-313[»]
1SBXX-ray1.65A91-192[»]
ProteinModelPortaliP12755.
SMRiP12755.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112388. 121 interactors.
DIPiDIP-31514N.
IntActiP12755. 15 interactors.
MINTiMINT-269973.
STRINGi9606.ENSP00000367797.

PTM databases

iPTMnetiP12755.
PhosphoSitePlusiP12755.

Polymorphism and mutation databases

BioMutaiSKI.
DMDMi134517.

Proteomic databases

EPDiP12755.
MaxQBiP12755.
PaxDbiP12755.
PeptideAtlasiP12755.
PRIDEiP12755.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378536; ENSP00000367797; ENSG00000157933.
GeneIDi6497.
KEGGihsa:6497.
UCSCiuc001aja.5. human.

Organism-specific databases

CTDi6497.
DisGeNETi6497.
GeneCardsiSKI.
GeneReviewsiSKI.
HGNCiHGNC:10896. SKI.
HPAiCAB010449.
MalaCardsiSKI.
MIMi164780. gene.
182212. phenotype.
neXtProtiNX_P12755.
OpenTargetsiENSG00000157933.
Orphaneti1606. 1p36 deletion syndrome.
2462. Shprintzen-Goldberg syndrome.
PharmGKBiPA35796.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFDK. Eukaryota.
ENOG410Y8AU. LUCA.
GeneTreeiENSGT00530000063040.
HOGENOMiHOG000039989.
HOVERGENiHBG006599.
InParanoidiP12755.
OMAiARQIRVC.
OrthoDBiEOG091G0O02.
PhylomeDBiP12755.
TreeFamiTF324133.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000157933-MONOMER.
ReactomeiR-HSA-201451. Signaling by BMP.
R-HSA-2173795. Downregulation of SMAD2/3:SMAD4 transcriptional activity.
SignaLinkiP12755.
SIGNORiP12755.

Miscellaneous databases

ChiTaRSiSKI. human.
EvolutionaryTraceiP12755.
GeneWikiiSKI_protein.
GenomeRNAii6497.
PROiP12755.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000157933.
CleanExiHS_SKI.
GenevisibleiP12755. HS.

Family and domain databases

Gene3Di3.10.260.20. 1 hit.
3.10.390.10. 1 hit.
InterProiIPR014890. c-SKI_SMAD4-bd_dom.
IPR009061. DNA-bd_dom_put.
IPR010919. SAND_dom-like.
IPR028760. Ski.
IPR003380. Transform_Ski.
IPR023216. Tscrpt_reg_SKI_SnoN.
[Graphical view]
PANTHERiPTHR10005. PTHR10005. 2 hits.
PTHR10005:SF15. PTHR10005:SF15. 2 hits.
PfamiPF08782. c-SKI_SMAD_bind. 1 hit.
PF02437. Ski_Sno. 1 hit.
[Graphical view]
SMARTiSM01046. c-SKI_SMAD_bind. 1 hit.
[Graphical view]
SUPFAMiSSF46955. SSF46955. 1 hit.
SSF63763. SSF63763. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSKI_HUMAN
AccessioniPrimary (citable) accession number: P12755
Secondary accession number(s): Q5SYT7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: October 1, 1989
Last modified: November 2, 2016
This is version 167 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.