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

SKIL - SKI like proto-oncogene Gene

Homo sapiens

Also known as SNO; SnoA; SnoI; SnoN

Gene ID: 6498 | Gene type: protein coding

About SKIL

Cytogenetic location: 3q26.2 Genomic coordinates (GRCh38): 3:170,357,715-170,396,849 (from NCBI)

This gene has 10 transcripts (splice variants), 221 orthologues and 3 paralogues. Ubiquitous expression in gall bladder (RPKM 14.0), appendix (RPKM 11.3) and 25 other tissues.

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]

SKIL Products(4)

mRNA Protein Name
NM_001145097.2 NP_001138569.1 ski-like protein isoform 2
NM_001145098.3 NP_001138570.1 ski-like protein isoform 3
NM_001248008.1 NP_001234937.1 ski-like protein isoform 1
NM_005414.5 NP_005405.2 ski-like protein isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
10531062 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
10531062 GOA
enables SMAD binding IPI
IPI: Inferred from physical interaction
12764135 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
18334480 GOA
enables protein-containing complex binding IDA
IDA: Inferred from direct assay
18334480 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
10531062 GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
17469184 GOA
involved in positive regulation of axonogenesis IMP
IMP: Inferred from mutant phenotype
16675394 GOA
involved in response to antibiotic IEP
IEP: Inferred from expression pattern
15967445 GOA
involved in response to growth factor IDA
IDA: Inferred from direct assay
19383336 GOA
involved in skeletal muscle tissue development IDA
IDA: Inferred from direct assay
17202138 GOA
Cellular Component GO Annotation Evidence Reference Source
located in PML body IDA
IDA: Inferred from direct assay
19383336 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
16109768 GOA
located in nucleus IDA
IDA: Inferred from direct assay
14712482 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

SKIL Protein Structure

Ski_Sno

Ski_Sno: SKI/SNO/DAC family (125 - 235)

c-SKI_SMAD_bind

c-SKI_SMAD_bind: c-SKI Smad4 binding domain (261 - 356)

  • 0
  • 200
  • 400
  • 600
  • 684 a.a.
Protein Preferred Names Protein Names

ski-like protein

SKI-like oncogene

Related Diseases

Diseases Alias
Obstructive Nephropathy

Con

Congenital Obstructive Nephropathy

Nephropathy Obstructive

Cornea Cancer

Malignant Neoplasm Of Cornea

Neoplasm Of Cornea

Corneal Tumor

Malignant Corneal Tumor

Malignant Tumor Of Cornea

Primary Malignant Neoplasm Of Cornea

Renal Fibrosis
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
Felis catus SKIL VGNC VGNC:65171
Macaca mulatta SKIL VGNC VGNC:84081
Canis familiaris SKIL VGNC VGNC:46199
Mus musculus SKIL MGD MGI:106203
Rattus norvegicus SKIL RGD RGD:621399
Bos taurus SKIL VGNC VGNC:34648