SKI
Ski oncogene
Also known as: SKI_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P12755
- Gene
- SKI
- Ensembl
- ENSG00000157933
- Chromosome
- 1
- Canonical length
- 728 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
728 residues, UniProt reviewed canonical sequence.
>P12755|SKI
1 MEAAAGGRGC FQPHPGLQKT LEQFHLSSMS SLGGPAAFSA RWAQEAYKKE SAKEAGAAAV
61 PAPVPAATEP PPVLHLPAIQ PPPPVLPGPF FMPSDRSTER CETVLEGETI SCFVVGGEKR
121 LCLPQILNSV LRDFSLQQIN AVCDELHIYC SRCTADQLEI LKVMGILPFS APSCGLITKT
181 DAERLCNALL YGGAYPPPCK KELAASLALG LELSERSVRV YHECFGKCKG LLVPELYSSP
241 SAACIQCLDC RLMYPPHKFV VHSHKALENR TCHWGFDSAN WRAYILLSQD YTGKEEQARL
301 GRCLDDVKEK FDYGNKYKRR VPRVSSEPPA SIRPKTDDTS SQSPAPSEKD KPSSWLRTLA
361 GSSNKSLGCV HPRQRLSAFR PWSPAVSASE KELSPHLPAL IRDSFYSYKS FETAVAPNVA
421 LAPPAQQKVV SSPPCAAAVS RAPEPLATCT QPRKRKLTVD TPGAPETLAP VAAPEEDKDS
481 EAEVEVESRE EFTSSLSSLS SPSFTSSSSA KDLGSPGARA LPSAVPDAAA PADAPSGLEA
541 ELEHLRQALE GGLDTKEAKE KFLHEVVKMR VKQEEKLSAA LQAKRSLHQE LEFLRVAKKE
601 KLREATEAKR NLRKEIERLR AENEKKMKEA NESRLRLKRE LEQARQARVC DKGCEAGRLR
661 AKYSAQIEDL QVKLQHAEAD REQLRADLLR EREAREHLEK VVKELQEQLW PRARPEAAGS
721 EGAAELEPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SKI can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 103 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 103 nTPM
- blood vessel: 67 nTPM
- endometrium: 36 nTPM
- cervix: 34 nTPM
- skin: 34 nTPM
- adipose tissue: 33 nTPM
Single-cell type
- neutrophils: 379 nCPM
- microglia: 205 nCPM
- adipocytes: 191 nCPM
- innate lymphoid cells: 182 nCPM
- salivary myoepithelial cells: 139 nCPM
- mast cells: 132 nCPM
Immune cell
- neutrophil: 0.5 nTPM
- basophil: 0.4 nTPM
- NK-cell: 0.2 nTPM
- intermediate monocyte: 0.1 nTPM
- naive B-cell: 0.1 nTPM
- naive CD4 T-cell: 0.1 nTPM
Brain region
- cerebellum: 147 nTPM
- hippocampal formation: 74 nTPM
- cerebral cortex: 74 nTPM
- amygdala: 70 nTPM
- medulla oblongata: 68 nTPM
- basal ganglia: 67 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SKI.
Disease | AllUniProt
Conditions SKI is implicated in, by any mechanism.
- Shprintzen-Goldberg craniosynostosis syndrome (SGS) MIM:182212
Disease | GeneticClinVar
31 pathogenic / likely-pathogenic of 1,437 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Shprintzen-Goldberg syndrome
- Inborn genetic diseases
- Familial thoracic aortic aneurysm and aortic dissection
- Neurodevelopmental disorder
- Disproportionate tall stature
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.51
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anterior/posterior axis specification
- bone morphogenesis
- camera-type eye development
- camera-type eye morphogenesis
- cardiac muscle cell proliferation
- cell motility
- embryonic limb morphogenesis
- face morphogenesis
- lens morphogenesis in camera-type eye
- myelination in peripheral nervous system
- myotube differentiation
- negative regulation of activin receptor signaling pathway
- negative regulation of BMP signaling pathway
- negative regulation of cell population proliferation
- negative regulation of fibroblast proliferation
- negative regulation of osteoblast differentiation
- negative regulation of Schwann cell proliferation
- negative regulation of SMAD protein signal transduction
- negative regulation of transcription by RNA polymerase II
- negative regulation of transforming growth factor beta receptor signaling pathway
- neural tube closure
- nose morphogenesis
- olfactory bulb development
- positive regulation of DNA binding
- positive regulation of transcription by RNA polymerase II
- positive regulation of Wnt signaling pathway
- retina development in camera-type eye
- roof of mouth development
- skeletal muscle fiber development
- somatic stem cell population maintenance
- transforming growth factor beta receptor signaling pathway
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription factor binding
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- histone deacetylase inhibitor activity
- identical protein binding
- protein domain specific binding
- protein kinase binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- SMAD binding
- ubiquitin protein ligase binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SKI in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SKI as an antibody target. Whether an autoantibody or antibody against SKI could matter depends on whether native SKI is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SKI is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SKI as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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