1. Gene
  2. SKI - SKI proto-oncogene Gene

SKI - SKI proto-oncogene Gene

Homo sapiens

Also known as SGS; SKV

Gene ID: 6497 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Ski_Sno: SKI/SNO/DAC family (81 - 190)

c-SKI_SMAD_bind

c-SKI_SMAD_bind: c-SKI Smad4 binding domain (217 - 312)

  • 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 Reference
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

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
Macaca fascicularis SKI NCBI NCBI:102144358
Others SKI NCBI