SKI - SKI proto-oncogene Gene

Also Known as SGS; SKV

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6497

About SKI

Cytogenetic location: 1p36.33-p36.32 Genomic coordinates (GRCh38): 1:2,228,319-2,310,213 (from NCBI)

This gene has 5 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 67 phenotypes. Ubiquitous expression in lung (RPKM 8.9), fat (RPKM 8.3) and 25 other tissues.

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]

SKI Products (1)

mRNA	Protein	Name
NM_003036.4	NP_003027.1	ski oncogene

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	12435627	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	17469184	GOA
enables SMAD binding	IPI IPI: Inferred from physical interaction	15107821	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	8514802	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8514802	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	11441023	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	12874272	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	17510063	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	12419246	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in myotube differentiation	IDA IDA: Inferred from direct assay	19008232	GOA
involved in negative regulation of BMP signaling pathway	IDA IDA: Inferred from direct assay	14699069	GOA
involved in negative regulation of BMP signaling pathway	IMP IMP: Inferred from mutant phenotype	17054724	GOA
involved in negative regulation of SMAD protein signal transduction	IDA IDA: Inferred from direct assay	12874272	GOA
acts upstream of or within negative regulation of Schwann cell proliferation	IGI IGI: Inferred from genetic interaction	15312649	GOA
involved in negative regulation of activin receptor signaling pathway	IDA IDA: Inferred from direct assay	14699069	GOA
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	11430826	GOA
involved in negative regulation of osteoblast differentiation	IDA IDA: Inferred from direct assay	14699069	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	17469184	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	12435627	GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	12874272	GOA
acts upstream of or within negative regulation of transforming growth factor beta receptor signaling pathway	IGI IGI: Inferred from genetic interaction	15312649	GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	17054724	GOA
involved in positive regulation of DNA binding	IDA IDA: Inferred from direct assay	15107821	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in PML body	IDA IDA: Inferred from direct assay	11430826	GOA
located in centrosome	IDA IDA: Inferred from direct assay	21600873	GOA
located in nuclear body	IDA IDA: Inferred from direct assay	12874272	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10049357	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	23610558	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SKI Protein Structure

Ski_Sno

c-SKI_SMAD_bind

0
200
400
600
728 a.a.

Protein Preferred Names	Protein Names
ski oncogene	Sloan-Kettering Institute proto-oncogene

SKI Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	SKI	P12755	SMAD2	Homo sapiens	Q15796	Anti Bait CoIP	26977879
Intra	SKI	P12755	SMAD2	Homo sapiens	Q15796	Density Sedimentation	19032343
Intra	SKI	P12755	SMAD2	Homo sapiens	Q15796	Anti Tag CoIP	19032343
Intra	SKI	P12755	SMAD2	Homo sapiens	Q15796	TAP	19032343
Intra	SKI	P12755	SMAD2	Homo sapiens	Q15796	PLA	22442258
Intra	SKI	P12755	SMAD2	Homo sapiens	Q15796	Anti Bait CoIP	19032343
Intra	SKI	P12755	ARK2C	Homo sapiens	Q6ZSG1	Anti Tag CoIP	23610558
Intra	SKI	P12755	SMAD3	Homo sapiens	P84022	PLA	22442258
Intra	SKI	P12755	SMAD3	Homo sapiens	P84022	Anti Bait CoIP	19032343
Intra	SKI	P12755	SMAD3	Homo sapiens	P84022	Density Sedimentation	19032343
Intra	SKI	P12755	SMAD3	Homo sapiens	P84022	CoIP	14525983
Intra	SKI	P12755	SMAD3	Homo sapiens	P84022	CoIP	12857746
Intra	SKI	P12755	SMAD3	Homo sapiens	P84022	Anti Tag CoIP	19032343
Intra	SKI	P12755	SMAD3	Homo sapiens	P84022	TAP	19032343
Intra	SKI	P12755	SIN3A	Homo sapiens	Q96ST3	Anti Bait CoIP	10049357
Intra	SKI	P12755	NCOR1	Homo sapiens	O75376	Anti Bait CoIP	10049357
Intra	SKI	P12755	NCOR1	Homo sapiens	O75376	TAP	19032343
Intra	SKI	P12755	SMAD4	Homo sapiens	Q13485	Anti Bait CoIP	26977879
Intra	SKI	P12755	SMAD4	Homo sapiens	Q13485	Anti Bait CoIP	19032343
Intra	SKI	P12755	SMAD4	Homo sapiens	Q13485	Density Sedimentation	19032343
Intra	SKI	P12755	SMAD4	Homo sapiens	Q13485	CoIP	14525983
Intra	SKI	P12755	SMAD4	Homo sapiens	Q13485	Anti Tag CoIP	19032343
Intra	SKI	P12755	SMAD4	Homo sapiens	Q13485	TAP	19032343
Intra	SKI	P12755	SMAD4	Homo sapiens	Q13485	Y2H	15231748
Cross	SKI	P12755	Ncor1	Mus musculus	Q60974	Y2H	10049357
Cross	SKI	P12755	Ncor1	Mus musculus	Q60974	Anti Tag CoIP	10049357
Cross	SKI	P12755	Ncor1	Mus musculus	Q60974	Pull Down	10049357
Cross	SKI	P12755	Satb2	Mus musculus	Q8VI24	Anti Bait CoIP	22334647
Cross	SKI	P12755	Fam89b	Mus musculus	Q9QUI1	Y2H	12646588
Cross	SKI	P12755	Fam89b	Mus musculus	Q9QUI1	Anti Bait CoIP	12646588
Cross	SKI	P12755	Fam89b	Mus musculus	Q9QUI1	Pull Down	12646588
Cross	SKI	P12755	Fam89b	Mus musculus	Q9QUI1	Anti Tag CoIP	12646588

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Shprintzen-Goldberg Craniosynostosis Syndrome	Shprintzen-Goldberg Syndrome Marfanoid Craniosynostosis Syndrome SGS Craniosynostosis With Arachnodactyly And Abdominal Hernias Marfanoid-Craniosynostosis Syndrome Marfanoid Disorder With Craniosynostosis, Type I Marfanoid Disorder With Craniosynostosis Type 1 Shprintzen-Goldberg Marfanoid Syndrome Marfanoid Disorder With Craniosynostosis Type I
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter
Sarcoma	Connective And Soft Tissue Neoplasm Tumor Of Soft Tissue And Skeleton Sarcomas Sarcoma - Category
Liver Angiosarcoma	Angiosarcoma Of Liver Angiosarcoma Of The Liver Hemangiosarcoma Of The Liver Primary Angiosarcoma Of Liver Kupffer Cell Sarcoma Of Liver Kupffer Cell Sarcoma Of Unspecified Site
Obstructive Nephropathy	Con Congenital Obstructive Nephropathy Nephropathy Obstructive
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Persistent Hyperplastic Primary Vitreous	Congenital Retinal Detachment Ncrna Disease Non-Syndromic Congenital Retinal Non-Attachment Pfvs Phpv Persistent Fetal Vasculature Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (2)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-10158	Bosutinib		99.97%	Yes
HY-10158A	Bosutinib hydrate	Inhibitor	99.97%	Yes

Clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Phase
HY-109082	Cevidoplenib	Inhibitor	99.58%	Phase 2

Pre-clinical Phase

Bioactive Molecules (23)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-13822	SKI II		99.25%	Unkown
HY-18366A	RU-SKI 43 hydrochloride	Inhibitor	98.81%	Unkown
HY-12892	SKI-178		99.29%	Unkown
HY-162143	SKI-349	Inhibitor	99.48%	Unkown
HY-19325	SKI2852	Inhibitor	98.89%	Unkown
HY-115735	SKI-I		99.73%	Unkown
HY-12895	SKI V		98.95%	Unkown
HY-109082A	Cevidoplenib dimesylate	Inhibitor	98.96%	Unkown
HY-N4308	Hexamethylquercetagetin	Inhibitor	98.0%	Unkown
HY-18366	RU-SKI 43	Inhibitor	/	Unkown
HY-10158S	Bosutinib-d8		≥99.0%	Unkown
HY-117563	CAY10621	Inhibitor	99.3%	Unkown
HY-10158S1	Bosutinib-13C,d3		/	Unkown
HY-10158AR	Bosutinib hydrate (Standard)	Inhibitor	/	Unkown
HY-106588	Heptaplatin		/	Unkown
HY-161441	SIK-IN-2	Inhibitor	/	Unkown
HY-161442	SIK-IN-3	Inhibitor	/	Unkown
HY-RS12969	SKI Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-114206	SKI-73		/	Unkown
HY-117982	SKI2496		/	Unkown
HY-RS18593	Ski Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25078	Ski Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W714171	Propoxycarbazone sodium		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SKI	MGD	MGI:98310
Felis catus	SKI	VGNC	VGNC:80357
Canis familiaris	SKI	VGNC	VGNC:46198
Macaca mulatta	SKI	VGNC	VGNC:77374
Bos taurus	SKI	VGNC	VGNC:34647
Rattus norvegicus	SKI	RGD	RGD:1565591
Others	SKI	NCBI