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

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)

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  • 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