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

Gene ID: 6497, updated on 8-Jul-2021

Summary

Official Symbol
SKIprovided by HGNC
Official Full Name
SKI proto-oncogeneprovided by HGNC
Primary source
HGNC:HGNC:10896
See related
Ensembl:ENSG00000157933 MIM:164780
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
SGS; SKV
Summary
This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in lung (RPKM 8.9), fat (RPKM 8.3) and 25 other tissues See more
Orthologs
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Genomic context

See SKI in Genome Data Viewer
Location:
1p36.33-p36.32
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (2228319..2310213)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2159758..2241652)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268219 Neighboring gene FA core complex associated protein 20 Neighboring gene uncharacterized LOC105378593 Neighboring gene Sharpr-MPRA regulatory region 12294 Neighboring gene MORN repeat containing 1 Neighboring gene small nuclear ribonucleoprotein polypeptide N pseudogene Neighboring gene Sharpr-MPRA regulatory region 13804 Neighboring gene retention in endoplasmic reticulum sorting receptor 1

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

Associated conditions

Description Tests
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available
Shprintzen-Goldberg syndrome
MedGen: C1321551 OMIM: 182212 GeneReviews: Shprintzen-Goldberg Syndrome
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-01-06)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-01-06)

ClinGen Genome Curation Page

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
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables histone deacetylase inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in anterior/posterior axis specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in bone morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in camera-type eye development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in camera-type eye morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell motility NAS
Non-traceable Author Statement
more info
PubMed 
involved_in embryonic limb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in face morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lens morphogenesis in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in myelination in peripheral nervous system ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in myotube differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of Schwann cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of fibroblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of histone deacetylation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of transforming growth factor beta receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nose morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in olfactory bulb development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of Wnt signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in retina development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in roof of mouth development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in skeletal muscle fiber development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in somatic stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
involved_in transforming growth factor beta receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in PML body IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nuclear body IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of transcription regulator complex ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of transcription repressor complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
ski oncogene
Names
proto-oncogene c-Ski
ski oncoprotein
v-ski avian sarcoma viral oncogene homolog

NCBI Reference Sequences (RefSeq)

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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_013084.1 RefSeqGene

    Range
    4625..86519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003036.4NP_003027.1  ski oncogene

    See identical proteins and their annotated locations for NP_003027.1

    Status: REVIEWED

    Source sequence(s)
    AL590822, X15218
    Consensus CDS
    CCDS39.1
    UniProtKB/Swiss-Prot
    P12755
    Related
    ENSP00000367797.4, ENST00000378536.5
    Conserved Domains (4) summary
    smart01046
    Location:217312
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    COG1196
    Location:538709
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd21083
    Location:91192
    DHD_Ski; Dachshund-homology domain found in Ski and similar proteins
    NF033913
    Location:383481
    fibronec_FbpA; LPXTG-anchored fibronectin-binding protein FbpA

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    2228319..2310213
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005244775.3XP_005244832.1  ski oncogene isoform X1

    See identical proteins and their annotated locations for XP_005244832.1

    Conserved Domains (4) summary
    smart01046
    Location:217312
    c-SKI_SMAD_bind; c-SKI Smad4 binding domain
    COG1196
    Location:540711
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd21083
    Location:91192
    DHD_Ski; Dachshund-homology domain found in Ski and similar proteins
    NF033913
    Location:383481
    fibronec_FbpA; LPXTG-anchored fibronectin-binding protein FbpA
  2. XM_005244776.4XP_005244833.1  ski oncogene isoform X3

    Conserved Domains (2) summary
    pfam13863
    Location:308416
    DUF4200; Domain of unknown function (DUF4200)
    cl12013
    Location:255317
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. XM_017002128.1XP_016857617.1  ski oncogene isoform X2

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