Preferred Label : SKI wt Allele;
Obsolete resource : true;
NCIt synonyms : Oncogene SKI; V-SKI Avian Sarcoma Viral Oncogene Homolog; SKV; V-SKI Sarcoma Viral Oncogene Homolog (Avian) wt Allele;
NCIt definition : Human SKI wild-type allele is located within 1q22-q24 and is approximately 81 kb in
length. This allele, which encodes ski oncogene protein, is involved in neural tube
development and muscle differentiation. Deletion of the gene may be associated with
congenital fiber-type disproportion myopathy and dilated cardiomyopathy. Aberrant
elevated expression of the gene may play a role in tumorigenesis.;
NCIt note : The SKI oncogene was originally isolated from Sloan-Kettering viruses (SKVs), a group
of replication-defective transforming retroviruses. The c-SKI proto-oncogene encodes
a transcriptional repressor that homo- and heterodimerizes with the related protein,
snoN. SMAD3 associates with nuclear SKI protein in response to TGFB1 signaling, repressing
transcriptional activation by SMAD3, and rendering cells resistant to the growth-inhibitory
effects of TGFB. The effects of SKI can be overcome by increased expression of SMAD3.; See 'Oncogene SKI wt Allele';
Concept status : Retired_Concept;
GenBank Accession Number : X15218;
Origin ID : C69185;
OMIM relation
- Semantic type(s)
