SKI SKI proto-oncogene[Homo sapiens]
Gene ID: 6497, updated on 16-Jul-2016


SUMMARY
-------------------------------------------------------------------------------------------------

Official Symbol: SKI (provided by HGNC)
Official full name: SKI proto-oncogene (provided by HGNC)
Primary source: HGNC:HGNC:10896
See related: Ensembl:ENSG00000157933; HPRD:01271; MIM:164780; Vega:OTTHUMG00000001407
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens

Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Also known as: SGS; SKV

Summary: 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 2009]

Orthologsall (/gene/?Term=ortholog_gene_6497[group]), mouse (http://www.ncbi.nlm.nih.gov/gene/20481)

GENOMIC CONTEXT
-------------------------------------------------------------------------------------------------

See SKI in: 	Epigenomics: http://130.14.22.64/epigenomics/view/genome/6497?term=SKI
	MapViewer: /mapview/map_search.cgi?direct=on&amp;idtype=gene&amp;id=6497

Location: 1p36.33

Annotation release	Status	Assembly	Chromosome	Location
-------------------------------------------------------------------------------------------------
108	current	GRCh38.p7 (GCF_000001405.33)	1	NC_000001.11 (2228695..2310213) 
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (2160134..2241652) 
Exont count: 9


BIBLIOGRAPHY
-------------------------------------------------------------------------------------------------


Related Articles in PubMed

1. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing
Shprintzen-Goldberg syndrome. Schepers D, . Eur J Hum Genet, 2015 Feb, PMID
24736733., Free PMC Article(s): PMC4297897
2. c-Ski activates cancer-associated fibroblasts to regulate breast cancer cell
invasion. Wang L, . Mol Oncol, 2013 Dec, PMID 24011664., Free PMC Article(s): PMC3864893
3. 576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb
malformation, congenital heart disease and epilepsy. Zhu X, . Gene, 2013 Oct 10, 
PMID 23892090.
4. Ski protein levels increase during in vitro progression of HPV16-immortalized
human keratinocytes and in cervical cancer. Chen Y, . Virology, 2013 Sep, PMID
23809940., Free PMC Article(s): PMC3919796
5. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 
Carmignac V, . Am J Hum Genet, 2012 Nov 2, PMID 23103230., Free PMC Article(s): PMC3487125
6. Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without
cleft palate. Mangold E, . Eur J Oral Sci, 2012 Oct, PMID 22984993.

GeneRIFs: Gene References Into Functions

1. our findings suggest that Ski represses TGF-b-induced EMT and invasion by
inhibiting SMAD-dependent signaling in non-small cell lung cancer
2. Ski regulates Hippo and TAZ signaling to suppress breast cancer progression.
3. Eight recurrent and three novel SKI mutations from eleven SGS patients were
located in the R-SMAD binding domain, except for one in the DHD domain.
4. Ski diminishes the myofibroblast phenotype induced by TGF-beta1 through the
suppression of Zeb2 by up-regulating the expression of Meox2.
5. acetaldehyde up-regulates COL1A2 by modulating the role of Ski and the expression
of SMADs 3, 4, and 7.
6. c-Ski is an important regulator in the activation of CAFs and may serve as a
potential therapeutic target to block breast cancer progression.
7. Ski expression is a novel negative feedback mechanism acting on retinoic acid
signaling
8. Overall, these studies demonstrate altered Ski protein levels, degradation and
localization in human papillomavirus16-transformed human keratinocytes and in
cervical cancer.
9. The 1p36.33-1p36.32 deletion encompassing SKI may represents a previous
undescribed microdeletion disorder.
10. Transgenic K562 cells have distinct gene expression profiles both in steady state
and during terminal erythroid differentiation, with GATA1s expression
characterised by lack of repression of MYB, CCND2 and SKI.
11. The study data provide limited support for the hypothesis that common SKI
variants are susceptibility factors for non-syndromic cleft lip/palate.
12. We identified causative variation in ten individuals with SGS in the
proto-oncogene SKI, a known repressor of TGF-beta activity.
13. our findings show that in-frame mutations in exon 1 of SKI cause
Shprintzen-Goldberg syndrome (SGS).
14. Two genes were consistently retained in the models with clinical variables: SKI
(v-SKI avian sarcoma viral oncogene homolog) and SLAMF1 (signaling lymphocytic
activation molecule family member 1; CD150).
15. A mutant SKI defective in transformation fails to increase p53 ubiquitination and
is unable to increase MDM2 levels and to increase mono-sumoylation of Ubc9
16. Ski expression in breast neoplasms is associated with longer overall and
disease-free survival.
17. Forced expression of miR-29a down-regulated SKI and its target gene, Nr-CAM,
whereas miR-29a inhibition induced SKI expression.
18. These results suggest that c-Ski is likely involved in the carcinogenesis of CCA 
induced by O. viverrini infection
19. impairment of SKI expression is not the leading mechanism involved in the
growth-suppressive effect of miR-155 found in this malignancy.
20. These data identify Ski as a novel target of Aurora A and contribute to an
understanding of the role of these proteins in the mitotic process.
21. Ski correlated with poor survival in the patients with TGF-beta-positive advanced
gastric cancer.
22. Suppression of p53 activity through the cooperative action of Ski and histone
deacetylase SIRT1.
23. Results identified serine 515 as a phosphorylation site of c-Ski which affects
its electrophoretic motility.
24. c-Ski overexpression is associated with tumor progression.
25. the results suggest that association with Ski leads to inhibition of Siah2 E3
ubiquitin ligase activity and in this way, the Ski protein inhibits
Siah2-mediated proteasomal degradation of HDAC3.
26. SKI promotes the switch of Smad3 from repressor of proliferation to activator of 
oncogenesis by facilitating phosphorylations in the linker domain.
27. findings show that Arkadia regulates the levels of expression of c-Ski protein in
cell-type-dependent fashion, and exhibits a tumour suppressor function by
inhibiting tumour cell growth
28. Results indicate that SKI exploits multiple regulatory levels of the TGF-beta
pathway and its deficiency restores TGF-beta tumor suppressor and apoptotic
activities in spite of the likely presence of oncogenic mutations in melanoma
tumors.
29. Akt modulates TGF-beta signaling by temporarily adjusting the levels of two
TGF-beta pathway negative regulators, Ski and Smad7
30. c-Ski overexpression promotes the growth of diffuse-type gastric carcinoma
through induction of angiogenesis
31. Ski may act as a tumor proliferation-promoting factor or as a metastatic
suppressor in human pancreatic cancer.
32. Ski can stabilize RARalpha and HDAC3 thus Ski represses retinoic acid signaling
by stabilizing corepressor complex.
33. SKI and MEL1 knockdown synergistically restored TGF-beta responsiveness in MKN28 
cells and reduced tumor growth in vivo
34. These results indicate that Ski complexes serve to maintain a TGF-beta-responsive
promoter at a repressed basal level via the activities of histone deacetylase and
histone arginine methyltransferase.
35. This study explores the association of STRA6 and SKI genes in a cohort of
subjects with anophthalmia and microphthalmia.
36. c-Ski and SnoN, mediators in TGF-beta resistance, might be implicated in melanoma
growth and progression.
37. SnoN and Ski were overexpressed both in adenomas with severe dysplasia and
colorectal carcinomas.
38. Ski is expressed in patients with acute myeloid leukemia treated with all-trans
retinoic acid
39. The ability of TGF-beta to induce degradation of Ski could be an additional
mechanism contributing to its protumorigenic activity.
40. Ski and SnoN proteins are overexpressed in Barrett's esophagus
41. Observational study of gene-disease association. (HuGE Navigator)
42. Ski-mediated repression of PU.1 is due to Ski's ability to recruit histone
deacetylase 3 to PU.1 bound to DNA.
43. Ski's increased level and specific relocalization during mitosis
44. the ability of Ski and SnoN to repress the growth inhibitory function of the Smad
proteins is required for their transforming activity.
45. These results suggest that stabilization of inactive Smad complexes on DNA is a
critical event in c-Ski-mediated inhibition of TGF-beta signaling.
46. c-ski and HIPK2 play an important role in the negative regulation of BMP-induced 
transcriptional activation
47. c-Ski protein has a role as a transcriptional co-repressor in TGF-beta signaling 
in esophageal squamous cell carcinoma
48. Ski seems to be involved in the blocking of differentiation in AML via inhibition
of RARalpha signaling
49. SKI regulates crucial events required for melanoma growth, survival, and
invasion.
50. Ski cooperates in the process of transformation in erythroid cells by interfering
with GATA1 function
51. subcellular localization of c-Ski may be regulated by proteasome-sensitive
processes through amino acid residues 94-210 and 491-548
52. These results indicate that impaired competition with p300 is the possible cause 
of dysfunction of c-Ski/SnoN in scleroderma fibroblasts and that this might
contribute to maintenance of the autocrine TGFbeta loop in this disease.
53. c-Jun associates with the oncoprotein Ski and suppresses Smad2 transcriptional
activity
54. Functional Ski overexpression inhibits TGF-beta-mediated proliferation and
prevents growth-arrested Schwann cells from reentering the cell cycle.
55. Our data suggest that regulated proteolysis of Ski is one of the key mechanisms
that control the threshold levels of this proto-oncoprotein, and thus prevents
epithelial cells from becoming TGF-beta resistant.
56. Inhibition of Ski through RNA interference restored TGF-beta signaling and growth
inhibition in vitro, and decreased tumor growth in vivo.
57. a novel polymorphism of the SKI gene was found to be associated with a decreased 
risk for orofacial defects
58. determined the crystal structure of a complex between a conserved Smad4 binding
fragment of Ski and the MH2 domain of Smad4 at 2.85 A resolution
59. I discuss the basis for repression of intracellular TGF-beta signaling by SKI,
some additional activities of this protein, and propose that by disrupting
multiple tumor suppressor pathways, SKI functions as a melanoma oncogene.
60. ski is repressed by Smad7
<pre>
PHENOTYPES
-------------------------------------------------------------------------------------------------

Review eQTL and phenotype association data in this region using PheGenI
	http://www.ncbi.nlm.nih.gov/gap/PheGenI?chr=1&amp;from=2228694&amp;fromto=2228694+2310212&amp;tab=0

Associated conditions
-------------------------------------------------------------------------------------------------
Description	Tests
-------------------------------------------------------------------------------------------------

Shprintzen-Goldberg syndrome
	MedGen: C1321551 OMIM:  182212 GeneReviews: Shprintzen-Goldberg Syndrome	

Copy number response
-------------------------------------------------------------------------------------------------
Copy number response
	Haploinsufficency		
		No evidence available (Last evaluated (2012-01-06)
			
			ClinGen Genome Curation Page(http://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/isca_gene.cgi?sym=SKI)Triplosensitivity		
		No evidence available (Last evaluated (2012-01-06)
			
			ClinGen Genome Curation Page(http://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/isca_gene.cgi?sym=SKI)
NHGRI GWAS CatalogLoci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
	NHGRI GWA Catalog		
			
			NHGRI GWA Catalog(http://www.genome.gov/gwastudies/index.cfm?pmid=23382691#result_table)
			PubMed(/pubmed/23382691)</pre>

VARIATION
-------------------------------------------------------------------------------------------------

See variants in ClinVar, http://130.14.22.64/sites/gene/clinvar/?term=SKI[gene]
See studies and variants in dbVar, http://130.14.22.64/sites/gene
See Variation Viewer (GRCh37.p13), http://130.14.22.64/sites/gene/variation/view/?q=6497[geneid]&amp;assm=GCF_000001405.25
See Variation Viewer (GRCh38), http://130.14.22.64/sites/gene/variation/view/?q=6497[geneid]<pre/><pre>
Genotypes
	See  SNP Geneview Report, http%3A%2F%2Fwww.ncbi.nlm.nih.gov%2FSNP%2Fsnp_ref.cgi%3FlocusId%3D6497
	See 1000 Genomes Browser (GCF_000001405.25), http://130.14.22.64/sites/gene/variation/tools/1000genomes/?q=6497[geneid]&amp;assm=GCF_000001405.25</pre>


INTERACTION
-------------------------------------------------------------------------------------------------

Description of Gene Interaction table

Product		Interactant	Other Gene    Complex	Source		Pubs
-------------------------------------------------------------------------------------------------

c-Ski homodimerizes with itself.
NP_003027.1    	NP_003027.1    	SKI        		BIND		PMID: 10575014
c-Ski interacts with Smad2. This interaction was modeled on a demonstrated interaction between Smad2 from an unspecified source and human c-Ski.
NP_003027.1    	NP_005892.1    	SMAD2      		BIND		PMID: 10575014
c-Ski interacts with Smad3. This interaction was modeled on a demonstrated interaction between Smad3 from an unspecified source and human c-Ski.
NP_003027.1    	NP_005893.1    	SMAD3      		BIND		PMID: 10575014
c-Ski interacts with Smad4. This interaction was modelled on a demonstrated interaction between Smad4 from an unspecified source and human c-Ski.
NP_003027.1    	NP_005350.1    	SMAD4      		BIND		PMID: 10575014
Smad4 interacts with Ski. This interaction was modeled on a demonstrated interaction between human Smad4 and Ski from an unspecified species.
NP_003027.1    	NP_005350.1    	SMAD4      		BIND		PMID: 15761153
Ski interacts with alpha-tubulin.
NP_003027.1    	NP_006073.2    	TUBA1B     		BIND		PMID: 15806149
P12755         	P10070         	GLI2       		HPRD		PMID: 12435627
P12755         	P10071         	GLI3       		HPRD		PMID: 12435627
P12755         	Q9H2X6         	HIPK2      		HPRD		PMID: 12874272
P12755         	P05412         	JUN        		HPRD		PMID: 12034730
P12755         	P51608         	MECP2      		HPRD		PMID: 11441023
P12755         	O75376         	NCOR1      		HPRD		PMID: 14525983
P12755         	Q14938         	NFIX       		HPRD		PMID: 9380514
P12755         	P29590         	PML        		HPRD		PMID: 11430826
P12755         	Q96ST3         	SIN3A      		HPRD		PMID: 10823891
P12755         	P12755         	SKI        		HPRD		PMID: 10575014
P12755         	P12757         	SKIL       		HPRD		PMID: 9927733
P12755         	Q15796         	SMAD2      		HPRD		PMID: 10485843
P12755         	P84022         	SMAD3      		HPRD		PMID: 12857746
P12755         	Q13485         	SMAD4      		HPRD		PMID: 15231748,12857746,12419246
P12755         	Q13573         	SNW1       		HPRD		PMID: 11522815,9569025
Affinity Capture-MS
BioGRID:112388 	BioGRID:106575 	ACTB       		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:131362 	ACTBL2     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:132000 	AGRN       		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:122494 	AHNAK      		BioGRID		PMID: 25670202
Affinity Capture-Western; Biochemical Activity
BioGRID:112388 	BioGRID:106710 	AKT1       		BioGRID		PMID: 19875456
Affinity Capture-Western
BioGRID:112388 	BioGRID:106711 	AKT2       		BioGRID		PMID: 19875456
Affinity Capture-MS
BioGRID:112388 	BioGRID:106966 	ATP1A1     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:106978 	ATP2A2     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:106987 	ATP5A1     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:106994 	ATP5B      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:107021 	ATP5O      		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:113909 	AXIN1      		BioGRID		PMID: 21795712
Affinity Capture-MS
BioGRID:112388 	BioGRID:107243 	CAD        		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:113054 	CCT3       		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:107710 	COPB1      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:115532 	DCAF7      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:108021 	DDX5       		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:108073 	DIAPH1     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:108117 	DYNC1H1    		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:114596 	DYRK1B     		BioGRID		PMID: 23602568
Affinity Capture-MS
BioGRID:112388 	BioGRID:123666 	EPPK1      		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:108403 	ESR1       		BioGRID		PMID: 22227247
Affinity Capture-Western
BioGRID:112388 	BioGRID:108441 	EYA3       		BioGRID		PMID: 19008232
Affinity Capture-Western
BioGRID:112388 	BioGRID:108893 	GATA1      		BioGRID		PMID: 15542823
Reconstituted Complex; Two-hybrid
BioGRID:112388 	BioGRID:108998 	GLI2       		BioGRID		PMID: 12435627
Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:112388 	BioGRID:108999 	GLI3       		BioGRID		PMID: 12435627
Affinity Capture-MS
BioGRID:112388 	BioGRID:109280 	HADHA      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:109282 	HADHB      		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:114368 	HDAC3      		BioGRID		PMID: 19341714,19032343,17621263,16987993
Affinity Capture-Western; Reconstituted Complex
BioGRID:112388 	BioGRID:118815 	HIPK2      		BioGRID		PMID: 12874272
Affinity Capture-MS
BioGRID:112388 	BioGRID:110751 	HNRNPM     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:109558 	HSP90AB1   		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:109537 	HSPA1L     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:109541 	HSPA5      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:109542 	HSPA6      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:109544 	HSPA8      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:109545 	HSPA9      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:109561 	HSPD1      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:109571 	HSPG2      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:109897 	ITGB4      		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:109928 	JUN        		BioGRID		PMID: 12034730
Affinity Capture-Western
BioGRID:112388 	BioGRID:117727 	LATS2      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:110131 	LDHA       		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:110233 	LTBR       		BioGRID		PMID: 26186194
Affinity Capture-Western; Reconstituted Complex
BioGRID:112388 	BioGRID:110368 	MECP2      		BioGRID		PMID: 11441023
Affinity Capture-Western
BioGRID:112388 	BioGRID:115724 	MERTK      		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:120527 	MOB1A      		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:124960 	MOB1B      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:115286 	MVP        		BioGRID		PMID: 25670202
Affinity Capture-Western; Reconstituted Complex
BioGRID:112388 	BioGRID:110687 	MYB        		BioGRID		PMID: 14761981
Affinity Capture-MS
BioGRID:112388 	BioGRID:110771 	NCL        		BioGRID		PMID: 25670202
Affinity Capture-Western; Reconstituted Complex
BioGRID:112388 	BioGRID:114973 	NCOR1      		BioGRID		PMID: 19032343,14525983,12764135,11430826
Phenotypic Enhancement; Reconstituted Complex
BioGRID:112388 	BioGRID:110856 	NFIX       		BioGRID		PMID: 9380514
Affinity Capture-MS
BioGRID:112388 	BioGRID:119685 	NLK        		BioGRID		PMID: 23602568
Affinity Capture-MS
BioGRID:112388 	BioGRID:117939 	PABPC1     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:114296 	PABPC4     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:111142 	PCNA       		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:111235 	PFKP       		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:111355 	PLEC       		BioGRID		PMID: 25670202
Affinity Capture-Western; Reconstituted Complex
BioGRID:112388 	BioGRID:111384 	PML        		BioGRID		PMID: 11430826
Affinity Capture-MS
BioGRID:112388 	BioGRID:111490 	PPM1B      		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:122023 	PRDM16     		BioGRID		PMID: 19049980
Affinity Capture-MS
BioGRID:112388 	BioGRID:111089 	PRDX1      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:111577 	PRKDC      		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:115688 	PRMT5      		BioGRID		PMID: 19032343
Affinity Capture-MS
BioGRID:112388 	BioGRID:111792 	PYGB       		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:115671 	RACK1      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:115359 	RANBP9     		BioGRID		PMID: 25670202
Affinity Capture-Western; Co-localization
BioGRID:112388 	BioGRID:111849 	RARA       		BioGRID		PMID: 19341714,16424870
Affinity Capture-Western
BioGRID:112388 	BioGRID:111860 	RB1        		BioGRID		PMID: 9988677
Affinity Capture-Western
BioGRID:112388 	BioGRID:115160 	RB1CC1     		BioGRID		PMID: 21795712
Affinity Capture-Western
BioGRID:112388 	BioGRID:120146 	RNF111     		BioGRID		PMID: 23530056,18451154,17510063
Affinity Capture-MS
BioGRID:112388 	BioGRID:112056 	RPL12      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:114507 	RPL14      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:112061 	RPL18      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:112075 	RPL30      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:112044 	RPL4       		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:112094 	RPLP0      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:112131 	RPS16      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:112102 	RPS3       		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:112105 	RPS4X      		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:121917 	SAV1       		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:112373 	SIAH2      		BioGRID		PMID: 20691163
Affinity Capture-Western; Reconstituted Complex
BioGRID:112388 	BioGRID:117439 	SIN3A      		BioGRID		PMID: 21149449,14525983,11430826
Affinity Capture-Western
BioGRID:112388 	BioGRID:116983 	SIRT1      		BioGRID		PMID: 21149449
Affinity Capture-Western
BioGRID:112388 	BioGRID:112386 	SIX1       		BioGRID		PMID: 19008232
Affinity Capture-MS; Reconstituted Complex
BioGRID:112388 	BioGRID:112388 	SKI        		BioGRID		PMID: 25670202,9927733
Affinity Capture-MS; Affinity Capture-Western; Co-localization; Reconstituted Complex
BioGRID:112388 	BioGRID:112389 	SKIL       		BioGRID		PMID: 25059663,16959829,12764135,9927733
Affinity Capture-MS
BioGRID:112388 	BioGRID:115467 	SLC25A13   		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:106788 	SLC25A4    		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:106789 	SLC25A5    		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:106790 	SLC25A6    		BioGRID		PMID: 25670202
Affinity Capture-Western; Reconstituted Complex
BioGRID:112388 	BioGRID:110261 	SMAD1      		BioGRID		PMID: 14699069,12874272,12426322
Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:112388 	BioGRID:110262 	SMAD2      		BioGRID		PMID: 25670202,21149449,20959473,19032343,18729074,17283070,14699069,12874272,12764135,12732634,10575014,10485843
Affinity Capture-Western; Reconstituted Complex
BioGRID:112388 	BioGRID:110263 	SMAD3      		BioGRID		PMID: 25670202,19875456,19032343,17469184,17283070,14699069,14525983,12874272,12857746,12764135,12732634,12426322,12154125,11306568,10575014
Affinity Capture-Luminescence; Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex; Two-hybrid
BioGRID:112388 	BioGRID:110264 	SMAD4      		BioGRID		PMID: 25670202,25609649,20959473,19032343,17469184,15761153,15231748,14699069,14525983,12874272,12857746,12764135,12732634,12419246,10531062
Affinity Capture-Western
BioGRID:112388 	BioGRID:110265 	SMAD5      		BioGRID		PMID: 14699069
Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex; Two-hybrid
BioGRID:112388 	BioGRID:116597 	SNW1       		BioGRID		PMID: 11522815,11278756,9569025
Affinity Capture-Western; Reconstituted Complex
BioGRID:112388 	BioGRID:112566 	SPI1       		BioGRID		PMID: 17621263
Affinity Capture-MS
BioGRID:112388 	BioGRID:121806 	SQRDL      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:114397 	SQSTM1     		BioGRID		PMID: 25670202
Affinity Capture-MS; Affinity Capture-Western
BioGRID:112388 	BioGRID:116457 	STK38      		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:116654 	STK38L     		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:122834 	TBL1XR1    		BioGRID		PMID: 19032343
Affinity Capture-MS
BioGRID:112388 	BioGRID:112810 	TCP1       		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:112862 	TEAD1      		BioGRID		PMID: 25670202
Affinity Capture-Western
BioGRID:112388 	BioGRID:112863 	TEAD4      		BioGRID		PMID: 25670202
Affinity Capture-Western; Reconstituted Complex
BioGRID:112388 	BioGRID:112904 	TGFBR1     		BioGRID		PMID: 20959473
Affinity Capture-Western
BioGRID:112388 	BioGRID:113010 	TP53       		BioGRID		PMID: 21149449
Reconstituted Complex
BioGRID:112388 	BioGRID:115457 	TRIM28     		BioGRID		PMID: 14761981
Affinity Capture-MS
BioGRID:112388 	BioGRID:113603 	TUBA1A     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:115651 	TUBA1B     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:113128 	TUBA4A     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:128444 	TUBB       		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:113131 	TUBB2A     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:124148 	TUBB6      		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:113135 	TUFM       		BioGRID		PMID: 25670202
Affinity Capture-Western; Reconstituted Complex
BioGRID:112388 	BioGRID:113177 	UBE2I      		BioGRID		PMID: 22411991
Affinity Capture-MS
BioGRID:112388 	BioGRID:113231 	UQCRC2     		BioGRID		PMID: 25670202
Affinity Capture-MS
BioGRID:112388 	BioGRID:123195 	WDR26      		BioGRID		PMID: 25670202

Pathways from BioSystems
-------------------------------------------------------------------------------------------------

BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
Downregulation of SMAD2/3:SMAD4 transcriptional activity, organism-specific biosystem (from REACTOME)
Gene Expression, organism-specific biosystem (from REACTOME)
Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
Hedgehog Signaling Pathway, organism-specific biosystem (from WikiPathways)
Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
Signal Transduction, organism-specific biosystem (from REACTOME)
Signaling by BMP, organism-specific biosystem (from REACTOME)
Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
TGF Beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystem (from REACTOME)


GENERAL GENE INFO
-------------------------------------------------------------------------------------------------

Marker
	SKI__6840            	(e-PCR)	Links:UniSTS:466436
	SHGC-149729          	(e-PCR)	Links:UniSTS:177183
	RH79610              	(e-PCR)	Links:UniSTS:90220
	SHGC-80908           	(e-PCR)	Links:UniSTS:102547
	D1S2515              	(e-PCR)	Links:UniSTS:4519
	SHGC-31449           	(e-PCR)	Links:UniSTS:24525


Homology
	Homologs of the SKI gene
		The SKI gene is conserved in Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
	Orthologs from Annotation Pipeline (/gene/?Term=ortholog_gene_6497[group]): 
	Map Viewer (Mouse, Rat)

	The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA (www.ebi.ac.uk/GOA)

Function				      GO ID		Evidence
-------------------------------------------------------------------------------------------------
SMAD binding                                  GO:0000000	PMID: 15107821,17469184
histone deacetylase inhibitor activity        GO:0000000	-
protein binding                               GO:0000000	PMID: 8514802,9569025,10049357,12419246,12435627,12646588,14525983,15231748,19008232,19032343,19049980,22442258,25609649
protein domain specific binding               GO:0000000	PMID: 11441023
protein kinase binding                        GO:0000000	PMID: 12874272
repressing transcription factor binding       GO:0000000	PMID: 12435627
transcription corepressor activity            GO:0000000	PMID: 17469184
transcription corepressor activity            GO:0000000	PMID: 12435627
ubiquitin protein ligase binding              GO:0000000	PMID: 17510063
zinc ion binding                              GO:0000000	PMID: 12419246

Processs				      GO ID		Evidence
-------------------------------------------------------------------------------------------------
BMP signaling pathway                         GO:0000000	-
SMAD protein signal transduction              GO:0000000	PMID: 12874272
anterior/posterior axis specification         GO:0000000	-
bone morphogenesis                            GO:0000000	-
camera-type eye development                   GO:0000000	-
camera-type eye morphogenesis                 GO:0000000	-
cell motility                                 GO:0000000	PMID: 14583455
cell proliferation                            GO:0000000	PMID: 14583455
embryonic limb morphogenesis                  GO:0000000	-
face morphogenesis                            GO:0000000	-
lens morphogenesis in camera-type eye         GO:0000000	-
myelination in peripheral nervous system      GO:0000000	-
myotube differentiation                       GO:0000000	PMID: 19008232
negative regulation of BMP signaling pat...   GO:0000000	PMID: 14699069
negative regulation of BMP signaling pat...   GO:0000000	PMID: 17054724
negative regulation of Schwann cell prol...   GO:0000000	PMID: 15312649
negative regulation of activin receptor ...   GO:0000000	PMID: 14699069
negative regulation of cell proliferatio...   GO:0000000	PMID: 11430826
negative regulation of fibroblast prolif...   GO:0000000	-
negative regulation of histone deacetyla...   GO:0000000	-
negative regulation of osteoblast differ...   GO:0000000	PMID: 14699069
negative regulation of transcription fro...   GO:0000000	PMID: 17469184
negative regulation of transcription fro...   GO:0000000	PMID: 12435627
negative regulation of transcription fro...   GO:0000000	-
negative regulation of transforming grow...   GO:0000000	PMID: 17469184
negative regulation of transforming grow...   GO:0000000	PMID: 15312649
negative regulation of transforming grow...   GO:0000000	PMID: 17054724,19049980
neural tube closure                           GO:0000000	-
nose morphogenesis                            GO:0000000	-
olfactory bulb development                    GO:0000000	-
palate development                            GO:0000000	-
positive regulation of DNA binding            GO:0000000	PMID: 15107821
positive regulation of Wnt signaling pat...   GO:0000000	PMID: 14583455
positive regulation of transcription fro...   GO:0000000	-
protein homotrimerization                     GO:0000000	PMID: 8514802
regulation of apoptotic process               GO:0000000	-
retina development in camera-type eye         GO:0000000	-
skeletal muscle fiber development             GO:0000000	-
somatic stem cell population maintenance      GO:0000000	-
transcription, DNA-templated                  GO:0000000	-
transforming growth factor beta receptor...   GO:0000000	PMID: 14583455

Component				      GO ID		Evidence
-------------------------------------------------------------------------------------------------
PML body                                      GO:0000000	PMID: 11430826
centrosome                                    GO:0000000	PMID: 21600873
cytoplasm                                     GO:0000000	-
cytoplasm                                     GO:0000000	-
nuclear body                                  GO:0000000	PMID: 12874272
nucleoplasm                                   GO:0000000	-
nucleus                                       GO:0000000	PMID: 17054724,17510063
protein complex                               GO:0000000	PMID: 23610558
transcription factor complex                  GO:0000000	-
transcriptional repressor complex             GO:0000000	-

GENERAL PROTEIN INFORMATION
-------------------------------------------------------------------------------------------------
Preferred Names
	ski oncogene
Names
	proto-oncogene c-Ski
	ski oncoprotein
	v-ski avian sarcoma viral oncogene homolog

NCBI REFERENCE SEQUENCES (RefSeq)
-------------------------------------------------------------------------------------------------

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds.
These reference sequences are curated independently of the genome annotation cycle, 
so their versions may not match the RefSeq versions in the current genome build. 
Identify version mismatches by comparing the version of the RefSeq in this section to 
the one reported in Genomic regions, transcripts, and products section above.

	Genomic
		NG_013084.1 RefSeqGene
		Range   	5000..86518
		Download	GenBank FASTA Sequence Viewer (Graphics) 



	mRNA and Protein(s) 

	NM_003036.3 → NP_003027.1  REVIEWEDski oncogene

	See proteins identical to NP_003027.1 at http://130.14.22.64/protein?LinkName=protein_protein_identical%26from_uid=4506967

	  Source sequence(s): AL590822, X15218 
	  Consensus CDS: CCDS39.1
	  UniProtKB/Swiss-Prot: P12755

	  Related Ensembl: ENSP00000367797, OTTHUMP00000001507, ENST00000378536, OTTHUMT00000004070
	  Conserved Domains (5)summary
		pfam02437: 
		Location:92 - 190
		Ski_Sno; SKI/SNO/DAC family
		pfam07321: 
		Location:563 - 699
		YscO; Type III secretion protein YscO
		pfam08782: 
		Location:219 - 311
		c-SKI_SMAD_bind; c-SKI Smad4 binding domain
		pfam13863: 
		Location:596 - 704
		DUF4200; Domain of unknown function (DUF4200)
		cl12013: 
		Location:543 - 605
		BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects me...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108
The following sections contain reference sequences that belong to a specific genome build. 
This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which 
this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both 
reference and alternate assemblies. Model RNAs and proteins are also reported here.

Reference GRCh38.p7 Primary Assembly

	Genomic
		NC_000001.11
		Range   	2228694..2310212
		Download	GenBank FASTA Sequence Viewer (Graphics) 



	mRNA and Protein(s) 

	XM_005244775.3 → XP_005244832.1 

	See proteins identical to XP_005244832.1 at http://130.14.22.64/protein?LinkName=protein_protein_identical%26from_uid=530360372

	  Conserved Domains (5)summary
		pfam02437: 
		Location:93 - 192
		Ski_Sno; SKI/SNO/DAC family
		PRK11020: 
		Location:571 - 649
		PRK11020; hypothetical protein; Provisional
		pfam08782: 
		Location:219 - 312
		c-SKI_SMAD_bind; c-SKI Smad4 binding domain
		pfam03938: 
		Location:606 - 707
		OmpH; Outer membrane protein (OmpH-like)
		pfam13863: 
		Location:598 - 709
		DUF4200; Domain of unknown function (DUF4200)

	XM_005244776.4 → XP_005244833.1 
	  Conserved Domains (2)summary
		pfam07946: 
		Location:267 - 360
		DUF1682; Protein of unknown function (DUF1682)
		pfam13863: 
		Location:308 - 419
		DUF4200; Domain of unknown function (DUF4200)

	XM_017002128.1 → XP_016857617.1 Alternate CHM1_1.1

	Genomic
		NC_018912.2 Alternate CHM1_1.1
		Range   	2147182..2227892
		Download	GenBank FASTA Sequence Viewer (Graphics) 



RELATED SEQUENCES
-------------------------------------------------------------------------------------------------

Nucleotide			Protein
-------------------------------------------------------------------------------------------------
genomic             		AL590822.37(85749..167267)	None
genomic             		AMYH02000120.1	None
genomic             		AMYH02000121.1	None
genomic             		CH471183.1	EAW56117.1
				EAW56118
mRNA                		AK309515.1	None
mRNA                		X15218.1	CAA33288.1
other-genetic       		BC156044.1	AAI56045.1
other-genetic       		BC157082.1	AAI57083.1

Protein Accession		Links
-------------------------------------------------------------------------------------------------
P12755.1       	GenPept		UniProtKB/Swiss-Prot:P12755.1

GENE LINKOUT
-------------------------------------------------------------------------------------------------
The following LinkOut(www.ncbi.nlm.nih.gov/projects/linkout/index.html) resources
are supplied by external providers. These providers are responsible for
maintaining the links.

Chemical Information
  (Free resource) (free) Interologous Interaction Database
	Interologous Interaction Database
  (Order form) Novus Biologicals
	Peptides and ProteinsPeptides and ProteinsLysatesLysatesPrimary AntibodiesPrimary Antibodies

Medical
  (Free resource) (free) Genetics Home Reference
	SKI geneSKI gene
  (Free resource) (free) Pancreatic Expression Database
	Pancreatic Expression Database

Molecular Biology Databases
  (Free resource) (free) BioGPS
	BioGPS
  (Free resource) (free) CREB Target Gene Database
	CREB Target Gene Database
  (Free resource) (free) Domain Mapping of Disease Mutations
	SKISKI
  (Free resource) (free) EVEX
	EVEX text mining resourceEVEX text mining resource
  (Order form) GenScript:ORF Clones in your selected vector
	GenScript:ORF Clones in your selected vector
  (Free resource) (free) GeneNetwork
	Records for gene expression in HumanRecords for gene expression in Human
  (Free resource) (free) Genevisible
	SKISKI
  GoPubMed Proteins
	A selection of literature about the genesA selection of literature about the genes
  (Free resource) (free) HuRef Browser
	HuRef Genome AnnotationHuRef Genome Annotation
  (Free resource) (Free registration required) (free) Human Gene Mutation Database
	Human Gene Mutation Database
  (Free resource) (free) Human eFP Browser
	Human eFP BrowserHuman eFP BrowserHuman eFP Browser
  Ingenuity Pathways Analysis
	Ingenuity Pathways Analysis
  (Free resource) (free) InnateDB
	InnateDB
  (Free resource) (free) InterMine
	InterMine
  (Free resource) (free) Kyoto Encyclopedia of Genes and Genomes
	hsa:6497hsa:6497
  (Free resource) (free) NextBio
	NextBio
  (Free resource) (free) Nuclear Receptor Signaling Atlas (NURSA)
	Transcriptomine: regulation of the SKI gene by nuclear receptor signaling pathwaysTranscriptomine: regulation of the SKI gene by nuclear receptor signaling pathways
  (Free resource) (free) OrthoDB: The Hierarchical Catalog of Orthologs
	The Hierarchical Catalog of OrthologsThe Hierarchical Catalog of Orthologs
  (Free resource) (free) Pathway Interaction Database
	Pathway Interaction Database
  (Free resource) (free) PhosphoSitePlus
	PhosphoSitePlus® - comprehensive post-translational modification resourcePhosphoSitePlus® - comprehensive post-translational modification resource
  (Free resource) (free) Protein Ontology Consortium
	Protein Ontology Consortium
  (Free resource) (Order form) (free) SeekQuence Research Antibodies
	SeekQuence Research Antibodies
  (Free resource) (free) The Gene Wiki
	The Gene Wiki
  (Free resource) (free) The Weizmann Institute of Science GeneCards and MalaCards databases
	GeneCard for SKIGeneCard for SKI
  (Free resource) (free) Vertebrate Genome Annotation (VEGA) database
	Vertebrate Genome Annotation (VEGA) database
  (Free resource) (free) iHOP - Information Hyperlinked over Proteins
	iHOP - Information Hyperlinked over Proteins
  (Free resource) (free) iRefWeb - iRefIndex release 9.0 - Consolidated Interactome
	iRefWeb - iRefIndex release 9.0 - Consolidated Interactome
  (Free resource) (free) pfSNP
	pfSNP

Research Materials
  (Order form) Addgene Non-profit plasmid repository
	Get  Plasmids - AddgeneGet  Plasmids - Addgene
  ExactAntigen/Labome
	reagent reviewreagent reviewreagentsreagents
  (Order form) GeneCopoeia Inc.
	Order miRNA target clonesOrder miRNA target clonesOrder full-length ORF cloneOrder full-length ORF cloneOrder shRNA clonesOrder shRNA clones
  LifeSpan BioSciences, Inc.
	LSBio SKI AntibodiesLSBio SKI AntibodiesLSBio SKI Blocking PeptidesLSBio SKI Blocking Peptides
  (Order form) NITE Biological Resource Center
	Human cDNA clones used in NEDO Project / AK309515Human cDNA clones used in NEDO Project / AK309515
  (Order form) PlasmID Repository at Harvard Medical School
	Order full-length cDNA cloneOrder full-length cDNA clone
  (Order form) QIAGEN GeneGlobe
	QIAGEN GeneGlobe
  (Order form) antibodies-online
	antibodies-online

Tools
  (Free resource) (free) GeneMANIA
	GeneMANIA