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Protein

Ski oncogene

Gene

SKI

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • 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 transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
  • SMAD binding Source: UniProtKB
  • transcription corepressor activity Source: UniProtKB
  • ubiquitin protein ligase binding Source: UniProtKB
  • zinc ion binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000157933.9
HGNCiHGNC:10896 SKI
MIMi164780 gene
neXtProtiNX_P12755

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 PublicationCorresponds to variant dbSNP:rs869312902Ensembl.1
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 dbSNP:rs387907304Ensembl.1
Natural variantiVAR_07166034G → A in SGS. 1 Publication1
Natural variantiVAR_07117434G → C in SGS. 2 PublicationsCorresponds to variant dbSNP:rs387907306Ensembl.1
Natural variantiVAR_07117534G → D in SGS. 2 PublicationsCorresponds to variant dbSNP:rs387907305Ensembl.1
Natural variantiVAR_07117634G → S in SGS. 3 PublicationsCorresponds to variant dbSNP:rs387907306Ensembl.1
Natural variantiVAR_07117734G → V in SGS. 2 PublicationsCorresponds to variant dbSNP:rs387907305Ensembl.1
Natural variantiVAR_07117835P → Q in SGS. 1 PublicationCorresponds to variant dbSNP:rs397514589Ensembl.1
Natural variantiVAR_07117935P → S in SGS. 4 PublicationsCorresponds to variant dbSNP:rs397514590Ensembl.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 dbSNP:rs387907303Ensembl.1
Natural variantiVAR_071183117G → R in SGS. 1 PublicationCorresponds to variant dbSNP:rs869312901Ensembl.1

Keywords - Diseasei

Craniosynostosis, Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNETi6497
GeneReviewsiSKI
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

Post-translational modificationi

Ubiquitinated by RNF165, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling.By similarity

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP12755
MaxQBiP12755
PaxDbiP12755
PeptideAtlasiP12755
PRIDEiP12755

PTM databases

iPTMnetiP12755
PhosphoSitePlusiP12755

Expressioni

Gene expression databases

BgeeiENSG00000157933
CleanExiHS_SKI
GenevisibleiP12755 HS

Organism-specific databases

HPAiCAB010449
HPA066567

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

Show more details

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, 122 interactors
CORUMiP12755
DIPiDIP-31514N
IntActiP12755, 17 interactors
MINTiP12755
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
OMAiEQLWPRP
OrthoDBiEOG091G0O02
PhylomeDBiP12755
TreeFamiTF324133

Family and domain databases

Gene3Di3.10.260.20, 1 hit
3.10.390.10, 1 hit
InterProiView protein in InterPro
IPR014890 c-SKI_SMAD4-bd_dom
IPR009061 DNA-bd_dom_put_sf
IPR010919 SAND-like_dom_sf
IPR028760 Ski
IPR003380 SKI/SNO/DAC
IPR037000 Ski_DNA-bd_sf
IPR023216 Tscrpt_reg_SKI_SnoN
PANTHERiPTHR10005 PTHR10005, 1 hit
PTHR10005:SF15 PTHR10005:SF15, 1 hit
PfamiView protein in Pfam
PF08782 c-SKI_SMAD_bind, 1 hit
PF02437 Ski_Sno, 1 hit
SMARTiView protein in SMART
SM01046 c-SKI_SMAD_bind, 1 hit
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 PublicationCorresponds to variant dbSNP:rs869312902Ensembl.1
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 dbSNP:rs387907304Ensembl.1
Natural variantiVAR_07166034G → A in SGS. 1 Publication1
Natural variantiVAR_07117434G → C in SGS. 2 PublicationsCorresponds to variant dbSNP:rs387907306Ensembl.1
Natural variantiVAR_07117534G → D in SGS. 2 PublicationsCorresponds to variant dbSNP:rs387907305Ensembl.1
Natural variantiVAR_07117634G → S in SGS. 3 PublicationsCorresponds to variant dbSNP:rs387907306Ensembl.1
Natural variantiVAR_07117734G → V in SGS. 2 PublicationsCorresponds to variant dbSNP:rs387907305Ensembl.1
Natural variantiVAR_07117835P → Q in SGS. 1 PublicationCorresponds to variant dbSNP:rs397514589Ensembl.1
Natural variantiVAR_07117935P → S in SGS. 4 PublicationsCorresponds to variant dbSNP:rs397514590Ensembl.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 dbSNP:rs387907303Ensembl.1
Natural variantiVAR_071183117G → R in SGS. 1 PublicationCorresponds to variant dbSNP:rs869312901Ensembl.1

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

Similar proteinsi

Entry informationi

Entry nameiSKI_HUMAN
AccessioniPrimary (citable) accession number: P12755
Secondary accession number(s): Q5SYT7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: October 1, 1989
Last modified: April 25, 2018
This is version 178 of the entry and version 1 of the sequence. See 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
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Main funding by: National Institutes of Health