Basic Information

Symbol
SKIL
RNA class
mRNA
Alias
SKI Like Proto-Oncogene SNO SnoN SnoA SKI-Like Oncogene Ski-Like Protein Ski-Related Oncogene SnoN Ski-Related Oncogene Ski-Related Protein SnoI
Location (GRCh38)
3:170357287-170396835
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_005414.5
Sequence length
7155.0 nt
GC content
0.3356

Transcripts

ID Sequence Length GC content
NM_001145097.2 NCBI
GGUUUCAAAUUGGCCCUUUGGCCUCUGGAGCAAAUUCAAAUGUAACUCU… 7061 nt 0.3327
NM_001145098.3 NCBI
ACAGCCGAAGGGAGCGGGCGAGCGGCGACGGCGGCGGCGGCGGGCACAG… 6664 nt 0.3364
NM_001248008.1 NCBI
GGUUUCAAAUUGGCCCUUUGGCCUCUGGAGCAAAUUCAAAUGUAACUCU… 7199 nt 0.3335
NM_005414.5 NCBI
ACAGCCGAAGGGAGCGGGCGAGCGGCGACGGCGGCGGCGGCGGGCACAG… 7155 nt 0.3356
Summary

The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Forensic Context

A study in mice demonstrated that the SKIL (Skil) is a pro-apoptotic gene directly targeted by the anti-apoptotic miR-30c-5p, where its knockdown in neonatal rat ventricular myocytes increased survival signaling, as validated by luciferase assays and siRNA studies [Kim et al. DOI:10.1038/s41598-018-33020-x].