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P12757 (SKIL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 136. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ski-like protein
Alternative name(s):
Ski-related oncogene
Ski-related protein
Gene names
Name:SKIL
Synonyms:SNO
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length684 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May have regulatory role in cell division or differentiation in response to extracellular signals.

Subunit structure

Interacts with SMAD2, SMAD3 and RNF111. Isoform 1interacts with WWP1. Ref.7 Ref.8

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. Ref.6

Sequence similarities

Belongs to the SKI family.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processblastocyst formation

Inferred from electronic annotation. Source: Ensembl

cell cycle arrest

Inferred from electronic annotation. Source: Ensembl

gene expression

Traceable author statement. Source: Reactome

lens fiber cell differentiation

Inferred from electronic annotation. Source: Ensembl

lymphocyte homeostasis

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 10531062PubMed 16966324PubMed 17469184. Source: UniProtKB

negative regulation of transforming growth factor beta receptor signaling pathway

Inferred from direct assay PubMed 17469184PubMed 19383336. Source: UniProtKB

positive regulation of axonogenesis

Inferred from electronic annotation. Source: Ensembl

positive regulation of extrinsic apoptotic signaling pathway via death domain receptors

Inferred from electronic annotation. Source: Ensembl

positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage

Inferred from electronic annotation. Source: Ensembl

protein heterotrimerization

Inferred from direct assay PubMed 8514802. Source: UniProtKB

protein homotrimerization

Inferred from direct assay PubMed 8514802. Source: UniProtKB

regulation of apoptotic process

Inferred from Biological aspect of Ancestor. Source: RefGenome

response to antibiotic

Inferred from expression pattern PubMed 15967445. Source: UniProtKB

response to cytokine

Inferred from electronic annotation. Source: Ensembl

response to growth factor

Inferred from direct assay PubMed 19383336. Source: UniProtKB

skeletal muscle tissue development

Inferred from direct assay PubMed 17202138. Source: UniProtKB

spermatogenesis

Inferred from electronic annotation. Source: Ensembl

transcription initiation from RNA polymerase II promoter

Traceable author statement. Source: Reactome

transcription, DNA-templated

Traceable author statement. Source: Reactome

transforming growth factor beta receptor signaling pathway

Traceable author statement. Source: Reactome

   Cellular_componentPML body

Inferred from direct assay PubMed 19383336. Source: UniProtKB

acrosomal vesicle

Inferred from electronic annotation. Source: Ensembl

cytoplasm

Inferred from direct assay PubMed 16109768PubMed 19538364. Source: UniProtKB

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay PubMed 14712482PubMed 16109768PubMed 17510063PubMed 19538364. Source: UniProtKB

protein complex

Inferred from direct assay PubMed 23610558. Source: MGI

   Molecular_functionSMAD binding

Inferred from physical interaction PubMed 12764135PubMed 17469184. Source: UniProtKB

chromatin binding

Inferred from electronic annotation. Source: Ensembl

protein binding

Inferred from physical interaction PubMed 10049357. Source: IntAct

protein complex binding

Inferred from direct assay PubMed 18334480. Source: UniProtKB

protein domain specific binding

Inferred from physical interaction PubMed 18334480. Source: UniProtKB

transcription corepressor activity

Inferred from direct assay PubMed 10531062. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Ncor1Q609742EBI-2902468,EBI-349004From a different organism.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform SNON (identifier: P12757-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform SNOA (identifier: P12757-2)

The sequence of this isoform differs from the canonical sequence as follows:
     367-415: TDAPSGMELQ...DKVVAPNVSL → ASFLYQFLIM...YRLIYLYCSF
     416-684: Missing.
Isoform SNON2 (identifier: P12757-3)

The sequence of this isoform differs from the canonical sequence as follows:
     431-431: S → N
     432-477: Missing.
Isoform SNOI (identifier: P12757-4)

The sequence of this isoform differs from the canonical sequence as follows:
     400-684: Missing.
Isoform 5 (identifier: P12757-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 684684Ski-like protein
PRO_0000129387

Regions

Coiled coil536 – 684149 Potential

Natural variations

Alternative sequence1 – 2020Missing in isoform 5.
VSP_040099
Alternative sequence367 – 41549TDAPS…PNVSL → ASFLYQFLIMVMVYFEMKIL CLVCNLTCMLNIAHATTTKY RLIYLYCSF in isoform SNOA.
VSP_004392
Alternative sequence400 – 684285Missing in isoform SNOI.
VSP_004393
Alternative sequence416 – 684269Missing in isoform SNOA.
VSP_004394
Alternative sequence4311S → N in isoform SNON2.
VSP_004395
Alternative sequence432 – 47746Missing in isoform SNON2.
VSP_004396
Natural variant381A → V. Ref.1 Ref.2 Ref.5
Corresponds to variant rs3772173 [ dbSNP | Ensembl ].
VAR_011677

Experimental info

Sequence conflict131G → R in CAA79636. Ref.6

Secondary structure

.................. 684
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform SNON [UniParc].

Last modified November 30, 2010. Version 2.
Checksum: 6A04D4ECEC214CF1

FASTA68476,976
        10         20         30         40         50         60 
MENLQTNFSL VQGSTKKLNG MGDDGSPPAK KMITDIHANG KTINKVPTVK KEHLDDYGEA 

        70         80         90        100        110        120 
PVETDGEHVK RTCTSVPETL HLNPSLKHTL AQFHLSSQSS LGGPAAFSAR HSQESMSPTV 

       130        140        150        160        170        180 
FLPLPSPQVL PGPLLIPSDS STELTQTVLE GESISCFQVG GEKRLCLPQV LNSVLREFTL 

       190        200        210        220        230        240 
QQINTVCDEL YIYCSRCTSD QLHILKVLGI LPFNAPSCGL ITLTDAQRLC NALLRPRTFP 

       250        260        270        280        290        300 
QNGSVLPAKS SLAQLKETGS AFEVEHECLG KCQGLFAPQF YVQPDAPCIQ CLECCGMFAP 

       310        320        330        340        350        360 
QTFVMHSHRS PDKRTCHWGF ESAKWHCYLH VNQKYLGTPE EKKLKIILEE MKEKFSMRSG 

       370        380        390        400        410        420 
KRNQSKTDAP SGMELQSWYP VIKQEGDHVS QTHSFLHPSY YLYMCDKVVA PNVSLTSAVS 

       430        440        450        460        470        480 
QSKELTKTEA SKSISRQSEK AHSSGKLQKT VSYPDVSLEE QEKMDLKTSR ELCSRLDASI 

       490        500        510        520        530        540 
SNNSTSKRKS ESATCNLVRD INKVGIGLVA AASSPLLVKD VICEDDKGKI MEEVMRTYLK 

       550        560        570        580        590        600 
QQEKLNLILQ KKQQLQMEVK MLSSSKSMKE LTEEQQNLQK ELESLQNEHA QRMEEFYVEQ 

       610        620        630        640        650        660 
KDLEKKLEQI MKQKCTCDSN LEKDKEAEYA GQLAELRQRL DHAEADRQEL QDELRQEREA 

       670        680 
RQKLEMMIKE LKLQILKSSK TAKE 

« Hide

Isoform SNOA [UniParc].

Checksum: A2F3E39AE47BB69E
Show »

FASTA41546,335
Isoform SNON2 [UniParc].

Checksum: 3963A1976EF1673C
Show »

FASTA63871,767
Isoform SNOI [UniParc].

Checksum: 0AFD7E54B7AB5139
Show »

FASTA39944,203
Isoform 5 [UniParc].

Checksum: A9B843A38DAF1ED5
Show »

FASTA66474,784

References

« Hide 'large scale' references
[1]"Isolation of human cDNA clones of ski and the ski-related gene, sno."
Nomura N., Sasamoto S., Ishii S., Date T., Matsui M., Ishizaki R.
Nucleic Acids Res. 17:5489-5500(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS SNON AND SNOA), VARIANT VAL-38.
Tissue: Umbilical vein endothelial cell.
[2]"Proto-oncogene Sno expression, alternative isoforms and immediate early serum response."
Pearson-White S.H., Crittenden R.
Nucleic Acids Res. 25:2930-2937(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SNON2), VARIANT VAL-38.
Tissue: Kidney.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
[4]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SNON), VARIANT VAL-38.
Tissue: Placenta.
[6]"SnoI, a novel alternatively spliced isoform of the ski proto-oncogene homolog, sno."
Pearson-White S.
Nucleic Acids Res. 21:4632-4638(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 13-684 (ISOFORM SNOI), TISSUE SPECIFICITY.
Tissue: Myoblast.
[7]"Negative regulation of transforming growth factor-beta (TGF-beta) signaling by WW domain-containing protein 1 (WWP1)."
Komuro A., Imamura T., Saitoh M., Yoshida Y., Yamori T., Miyazono K., Miyazawa K.
Oncogene 23:6914-6923(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH WWP1.
[8]"Arkadia activates Smad3/Smad4-dependent transcription by triggering signal-induced SnoN degradation."
Levy L., Howell M., Das D., Harkin S., Episkopou V., Hill C.S.
Mol. Cell. Biol. 27:6068-6083(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH RNF111.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X15219 mRNA. Translation: CAA33289.1.
X15217 mRNA. Translation: CAA33287.1.
U70730 mRNA. Translation: AAB65850.1.
AK300053 mRNA. Translation: BAG61862.1.
AC073288 Genomic DNA. No translation available.
BC059386 mRNA. Translation: AAH59386.1.
Z19588 mRNA. Translation: CAA79636.1.
CCDSCCDS33890.1. [P12757-1]
CCDS46953.1. [P12757-3]
CCDS46954.1. [P12757-5]
PIRTVHUSN. S06052.
TVHUSA. S06054.
RefSeqNP_001138569.1. NM_001145097.2. [P12757-3]
NP_001138570.1. NM_001145098.2. [P12757-5]
NP_001234937.1. NM_001248008.1. [P12757-1]
NP_005405.2. NM_005414.4. [P12757-1]
XP_005247778.1. XM_005247721.1. [P12757-1]
XP_006713798.1. XM_006713735.1. [P12757-1]
UniGeneHs.536655.
Hs.581632.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3EQ5X-ray2.45A/B/C/D/E/F/G/H/I/J/K/L137-238[»]
ProteinModelPortalP12757.
SMRP12757. Positions 141-238, 264-355.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112389. 89 interactions.
DIPDIP-42138N.
IntActP12757. 71 interactions.
MINTMINT-1179766.
STRING9606.ENSP00000259119.

PTM databases

PhosphoSiteP12757.

Polymorphism databases

DMDM313104010.

Proteomic databases

MaxQBP12757.
PaxDbP12757.
PRIDEP12757.

Protocols and materials databases

DNASU6498.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000259119; ENSP00000259119; ENSG00000136603. [P12757-1]
ENST00000413427; ENSP00000400193; ENSG00000136603. [P12757-3]
ENST00000426052; ENSP00000406520; ENSG00000136603. [P12757-5]
ENST00000458537; ENSP00000415243; ENSG00000136603. [P12757-1]
GeneID6498.
KEGGhsa:6498.
UCSCuc003fgu.3. human. [P12757-1]
uc003fgv.3. human. [P12757-3]

Organism-specific databases

CTD6498.
GeneCardsGC03P170075.
HGNCHGNC:10897. SKIL.
HPAHPA008472.
MIM165340. gene.
neXtProtNX_P12757.
PharmGKBPA35797.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG82850.
HOGENOMHOG000039989.
HOVERGENHBG006599.
InParanoidP12757.
OMAKKEHLDD.
OrthoDBEOG72RN0F.
PhylomeDBP12757.
TreeFamTF324133.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
REACT_71. Gene Expression.
SignaLinkP12757.

Gene expression databases

ArrayExpressP12757.
BgeeP12757.
CleanExHS_SKIL.
GenevestigatorP12757.

Family and domain databases

Gene3D3.10.260.20. 1 hit.
3.10.390.10. 1 hit.
InterProIPR014890. c-SKI_SMAD4-bd_dom.
IPR009061. DNA-bd_dom_put.
IPR010919. SAND_dom-like.
IPR028373. Ski-rel_Sno.
IPR003380. Transform_Ski.
IPR023216. Tscrpt_reg_SKI_SnoN.
[Graphical view]
PANTHERPTHR10005. PTHR10005. 1 hit.
PTHR10005:SF3. PTHR10005:SF3. 1 hit.
PfamPF08782. c-SKI_SMAD_bind. 1 hit.
PF02437. Ski_Sno. 1 hit.
[Graphical view]
SMARTSM01046. c-SKI_SMAD_bind. 1 hit.
[Graphical view]
SUPFAMSSF46955. SSF46955. 1 hit.
SSF63763. SSF63763. 1 hit.
ProtoNetSearch...

Other

EvolutionaryTraceP12757.
GeneWikiSKIL.
GenomeRNAi6498.
NextBio25259.
PROP12757.
SOURCESearch...

Entry information

Entry nameSKIL_HUMAN
AccessionPrimary (citable) accession number: P12757
Secondary accession number(s): A6NGT1 expand/collapse secondary AC list , B4DT50, O00464, P12756, Q07501
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: November 30, 2010
Last modified: July 9, 2014
This is version 136 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM