SKIL
Ski-like protein
Also known as: SKIL_HUMAN, SNO, SnoA, SnoN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P12757
- Gene
- SKIL
- Ensembl
- ENSG00000136603
- Chromosome
- 3
- Canonical length
- 684 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
684 residues, UniProt reviewed canonical sequence.
>P12757|SKIL
1 MENLQTNFSL VQGSTKKLNG MGDDGSPPAK KMITDIHANG KTINKVPTVK KEHLDDYGEA
61 PVETDGEHVK RTCTSVPETL HLNPSLKHTL AQFHLSSQSS LGGPAAFSAR HSQESMSPTV
121 FLPLPSPQVL PGPLLIPSDS STELTQTVLE GESISCFQVG GEKRLCLPQV LNSVLREFTL
181 QQINTVCDEL YIYCSRCTSD QLHILKVLGI LPFNAPSCGL ITLTDAQRLC NALLRPRTFP
241 QNGSVLPAKS SLAQLKETGS AFEVEHECLG KCQGLFAPQF YVQPDAPCIQ CLECCGMFAP
301 QTFVMHSHRS PDKRTCHWGF ESAKWHCYLH VNQKYLGTPE EKKLKIILEE MKEKFSMRSG
361 KRNQSKTDAP SGMELQSWYP VIKQEGDHVS QTHSFLHPSY YLYMCDKVVA PNVSLTSAVS
421 QSKELTKTEA SKSISRQSEK AHSSGKLQKT VSYPDVSLEE QEKMDLKTSR ELCSRLDASI
481 SNNSTSKRKS ESATCNLVRD INKVGIGLVA AASSPLLVKD VICEDDKGKI MEEVMRTYLK
541 QQEKLNLILQ KKQQLQMEVK MLSSSKSMKE LTEEQQNLQK ELESLQNEHA QRMEEFYVEQ
601 KDLEKKLEQI MKQKCTCDSN LEKDKEAEYA GQLAELRQRL DHAEADRQEL QDELRQEREA
661 RQKLEMMIKE LKLQILKSSK TAKELocalizationUniProt · AlphaFold · HPA
Whether an antibody against SKIL 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)
- 0.53
- Highest tissue expression
- 22 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 22 nTPM
- tongue: 20 nTPM
- gallbladder: 20 nTPM
- appendix: 18 nTPM
- tonsil: 17 nTPM
- lung: 15 nTPM
Single-cell type
- neutrophils: 970 nCPM
- urothelial cells: 464 nCPM
- innate lymphoid cells: 369 nCPM
- thymocytes: 288 nCPM
- endometrial secretory cells: 280 nCPM
- salivary basal cells: 264 nCPM
Immune cell
- non-classical monocyte: 10 nTPM
- intermediate monocyte: 8.3 nTPM
- naive B-cell: 4.4 nTPM
- neutrophil: 4.1 nTPM
- memory B-cell: 3.9 nTPM
- classical monocyte: 3.4 nTPM
Brain region
- white matter: 42 nTPM
- spinal cord: 40 nTPM
- medulla oblongata: 38 nTPM
- hypothalamus: 38 nTPM
- midbrain: 38 nTPM
- pons: 35 nTPM
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)
- 0.3
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 0.93
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- blastocyst formation
- extrinsic apoptotic signaling pathway via death domain receptors
- intrinsic apoptotic signaling pathway in response to DNA damage
- lens fiber cell differentiation
- lymphocyte homeostasis
- muscle structure development
- negative regulation of BMP signaling pathway
- negative regulation of cell differentiation
- negative regulation of transcription by RNA polymerase II
- negative regulation of transforming growth factor beta receptor signaling pathway
- positive regulation of axonogenesis
- positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
- positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage
- regulation of cell cycle
- response to antibiotic
- response to cytokine
- response to growth factor
- skeletal muscle tissue development
- spermatogenesis
- transforming growth factor beta receptor signaling pathway
Molecular functions
- chromatin binding
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- identical protein binding
- protein domain specific binding
- protein-containing complex binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- SMAD binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SKIL 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 SKIL as an antibody target. Whether an autoantibody or antibody against SKIL could matter depends on whether native SKIL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SKIL 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 SKIL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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