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SKIL SKI like proto-oncogene [ Homo sapiens (human) ]

Gene ID: 6498, updated on 13-Mar-2020

Summary

Official Symbol
SKILprovided by HGNC
Official Full Name
SKI like proto-oncogeneprovided by HGNC
Primary source
HGNC:HGNC:10897
See related
Ensembl:ENSG00000136603 MIM:165340
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SNO; SnoA; SnoI; SnoN
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]
Expression
Ubiquitous expression in gall bladder (RPKM 14.0), appendix (RPKM 11.3) and 25 other tissues See more
Orthologs

Genomic context

See SKIL in Genome Data Viewer
Location:
3q26.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (170357678..170396849)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (170075473..170114637)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protein kinase C iota Neighboring gene Sharpr-MPRA regulatory region 5121 Neighboring gene microRNA 6828 Neighboring gene claudin 11 Neighboring gene SLC7A14 antisense RNA 1 Neighboring gene solute carrier family 7 member 14 Neighboring gene keratin 8 pseudogene 13

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
blastocyst formation IEA
Inferred from Electronic Annotation
more info
 
cell cycle arrest IEA
Inferred from Electronic Annotation
more info
 
lens fiber cell differentiation IEA
Inferred from Electronic Annotation
more info
 
lymphocyte homeostasis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
negative regulation of transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of axonogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA
Inferred from Electronic Annotation
more info
 
positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage IEA
Inferred from Electronic Annotation
more info
 
response to cytokine IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ski-like protein
Names
SKI-like oncogene
ski-related oncogene snoN

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030357.1 RefSeqGene

    Range
    5031..44151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145097.2NP_001138569.1  ski-like protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as SnoN2) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC073288, AI245308, U70730
    Consensus CDS
    CCDS46953.1
    UniProtKB/Swiss-Prot
    P12757
    Related
    ENSP00000400193.2, ENST00000413427.6
    Conserved Domains (4) summary
    smart01046
    Location:261356
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:136235
    Ski_Sno; SKI/SNO/DAC family
    cd16269
    Location:593604
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:478626
    GBP_C; Guanylate-binding protein, C-terminal domain
  2. NM_001145098.3NP_001138570.1  ski-like protein isoform 3

    See identical proteins and their annotated locations for NP_001138570.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region, and uses a downstream start codon compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
    Source sequence(s)
    AC073288, AI245308, AK300053, DA464211
    Consensus CDS
    CCDS46954.1
    UniProtKB/Swiss-Prot
    P12757
    Related
    ENSP00000406520.2, ENST00000426052.6
    Conserved Domains (4) summary
    smart01046
    Location:241336
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:116215
    Ski_Sno; SKI/SNO/DAC family
    cd16269
    Location:619630
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:504652
    GBP_C; Guanylate-binding protein, C-terminal domain
  3. NM_001248008.1NP_001234937.1  ski-like protein isoform 1

    See identical proteins and their annotated locations for NP_001234937.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 both encode the same isoform (1).
    Source sequence(s)
    AC073288, AI245308, X15219
    Consensus CDS
    CCDS33890.1
    UniProtKB/Swiss-Prot
    P12757
    Related
    ENSP00000415243.3, ENST00000458537.7
    Conserved Domains (4) summary
    smart01046
    Location:261356
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:136235
    Ski_Sno; SKI/SNO/DAC family
    cd16269
    Location:639650
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:524672
    GBP_C; Guanylate-binding protein, C-terminal domain
  4. NM_005414.5NP_005405.2  ski-like protein isoform 1

    See identical proteins and their annotated locations for NP_005405.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as snoN).
    Source sequence(s)
    AC073288, AI245308, BC059386, DA464211, X15219
    Consensus CDS
    CCDS33890.1
    UniProtKB/Swiss-Prot
    P12757
    Related
    ENSP00000259119.4, ENST00000259119.9
    Conserved Domains (4) summary
    smart01046
    Location:261356
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:136235
    Ski_Sno; SKI/SNO/DAC family
    cd16269
    Location:639650
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:524672
    GBP_C; Guanylate-binding protein, C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    170357678..170396849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713735.1XP_006713798.1  ski-like protein isoform X1

    See identical proteins and their annotated locations for XP_006713798.1

    UniProtKB/Swiss-Prot
    P12757
    Conserved Domains (4) summary
    smart01046
    Location:261356
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:136235
    Ski_Sno; SKI/SNO/DAC family
    cd16269
    Location:639650
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:524672
    GBP_C; Guanylate-binding protein, C-terminal domain
  2. XM_005247721.1XP_005247778.1  ski-like protein isoform X1

    See identical proteins and their annotated locations for XP_005247778.1

    UniProtKB/Swiss-Prot
    P12757
    Conserved Domains (4) summary
    smart01046
    Location:261356
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    pfam02437
    Location:136235
    Ski_Sno; SKI/SNO/DAC family
    cd16269
    Location:639650
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:524672
    GBP_C; Guanylate-binding protein, C-terminal domain

RNA

  1. XR_001740238.1 RNA Sequence

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