P12757 (SKIL_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 123.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Ski-like protein Alternative name(s): Ski-related oncogene Ski-related protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 684 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 1 interacts 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
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| Ncor1 | Q60974 | 2 | EBI-2902468,EBI-349004 | From 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 key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 684 | 684 | Ski-like protein | PRO_0000129387 | ||||||||||||||||||||||
Regions | ||||||||||||||||||||||||||
| Coiled coil | 536 – 684 | 149 | Potential | |||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||
| Alternative sequence | 1 – 20 | 20 | Missing in isoform 5. | VSP_040099 | ||||||||||||||||||||||
| Alternative sequence | 367 – 415 | 49 | TDAPS…PNVSL → ASFLYQFLIMVMVYFEMKIL CLVCNLTCMLNIAHATTTKY RLIYLYCSF in isoform SNOA. | VSP_004392 | ||||||||||||||||||||||
| Alternative sequence | 400 – 684 | 285 | Missing in isoform SNOI. | VSP_004393 | ||||||||||||||||||||||
| Alternative sequence | 416 – 684 | 269 | Missing in isoform SNOA. | VSP_004394 | ||||||||||||||||||||||
| Alternative sequence | 431 | 1 | S → N in isoform SNON2. | VSP_004395 | ||||||||||||||||||||||
| Alternative sequence | 432 – 477 | 46 | Missing in isoform SNON2. | VSP_004396 | ||||||||||||||||||||||
| Natural variant | 38 | 1 | A → V. Ref.1 Ref.2 Ref.5 Corresponds to variant rs3772173 [ dbSNP | Ensembl ]. | VAR_011677 | ||||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||||
| Sequence conflict | 13 | 1 | G → R in CAA79636. Ref.6 | |||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||
| Helix | 137 – 139 | 3 | ||||||||||||||||||||||||
| Beta strand | 145 – 149 | 5 | ||||||||||||||||||||||||
| Beta strand | 152 – 159 | 8 | ||||||||||||||||||||||||
| Beta strand | 162 – 166 | 5 | ||||||||||||||||||||||||
| Helix | 167 – 172 | 6 | ||||||||||||||||||||||||
| Turn | 173 – 177 | 5 | ||||||||||||||||||||||||
| Helix | 180 – 190 | 11 | ||||||||||||||||||||||||
| Helix | 199 – 207 | 9 | ||||||||||||||||||||||||
| Beta strand | 219 – 222 | 4 | ||||||||||||||||||||||||
| Helix | 223 – 234 | 12 | ||||||||||||||||||||||||
Sequences
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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. 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. 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. | ||||||||||||
| IPI | IPI00025468. IPI00216658. IPI00216661. IPI00867624. IPI00953209. | ||||||||||||
| PIR | TVHUSN. S06052. TVHUSA. S06054. | ||||||||||||
| RefSeq | NP_001138569.1. NM_001145097.2. NP_001138570.1. NM_001145098.2. NP_001234937.1. NM_001248008.1. NP_005405.2. NM_005414.4. | ||||||||||||
| UniGene | Hs.536655. Hs.581632. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | P12757. | ||||||||||||
| SMR | P12757. Positions 141-238, 264-355. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | P12757. 5 interactions. | ||||||||||||
| MINT | MINT-1179766. | ||||||||||||
| STRING | 9606.ENSP00000259119. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | P12757. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 134594. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | P12757. | ||||||||||||
| PRIDE | P12757. | ||||||||||||
Protocols and materials databases | |||||||||||||
| DNASU | 6498. | ||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000259119; ENSP00000259119; ENSG00000136603. ENST00000413427; ENSP00000400193; ENSG00000136603. ENST00000426052; ENSP00000406520; ENSG00000136603. ENST00000458537; ENSP00000415243; ENSG00000136603. | ||||||||||||
| GeneID | 6498. | ||||||||||||
| KEGG | hsa:6498. | ||||||||||||
| UCSC | uc003fgu.3. human. uc003fgv.3. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 6498. | ||||||||||||
| GeneCards | GC03P170075. | ||||||||||||
| HGNC | HGNC:10897. SKIL. | ||||||||||||
| HPA | HPA008472. | ||||||||||||
| MIM | 165340. gene. | ||||||||||||
| neXtProt | NX_P12757. | ||||||||||||
| PharmGKB | PA35797. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | NOG82850. | ||||||||||||
| HOGENOM | HOG000039989. | ||||||||||||
| HOVERGEN | HBG006599. | ||||||||||||
| InParanoid | P12757. | ||||||||||||
| OMA | KKEHLDD. | ||||||||||||
| OrthoDB | EOG4229J8. | ||||||||||||
Enzyme and pathway databases | |||||||||||||
| Pathway_Interaction_DB | smad2_3nuclearpathway. Regulation of nuclear SMAD2/3 signaling. tgfbrpathway. TGF-beta receptor signaling. | ||||||||||||
| Reactome | REACT_111102. Signal Transduction. REACT_71. Gene Expression. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | P12757. | ||||||||||||
| Bgee | P12757. | ||||||||||||
| CleanEx | HS_SKIL. | ||||||||||||
| Genevestigator | P12757. | ||||||||||||
| GermOnline | ENSG00000136603. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 3.10.260.20. 1 hit. 3.10.390.10. 1 hit. | ||||||||||||
| InterPro | IPR014890. c-SKI_SMAD4-bd_dom. IPR009061. DNA-bd_dom_put. IPR010919. SAND_dom-like. IPR003380. Transform_Ski. IPR023216. Tscrpt_reg_SKI_SnoN. [Graphical view] | ||||||||||||
| PANTHER | PTHR10005. PTHR10005. 1 hit. | ||||||||||||
| Pfam | PF08782. c-SKI_SMAD_bind. 1 hit. PF02437. Ski_Sno. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM01046. c-SKI_SMAD_bind. 1 hit. [Graphical view] | ||||||||||||
| SUPFAM | SSF46955. Putativ_DNA_bind. 1 hit. SSF63763. SAND_like. 1 hit. | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| EvolutionaryTrace | P12757. | ||||||||||||
| GenomeRNAi | 6498. | ||||||||||||
| NextBio | 25259. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | SKIL_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P12757 Secondary accession number(s): A6NGT1 Q07501 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
