Details for: SKI

Gene ID: 6497

Symbol: SKI

Ensembl ID: ENSG00000157933

Description: SKI proto-oncogene

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 264.2318
    Cell Significance Index: -41.1000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 163.3001
    Cell Significance Index: -41.4200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 91.4169
    Cell Significance Index: -43.1600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 88.2815
    Cell Significance Index: -35.8700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 80.4455
    Cell Significance Index: -41.3800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 37.5965
    Cell Significance Index: -35.9000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 34.0483
    Cell Significance Index: -41.9800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 15.2733
    Cell Significance Index: -40.9200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 11.2878
    Cell Significance Index: -34.6700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.6942
    Cell Significance Index: -42.2000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.9196
    Cell Significance Index: -21.7100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.7060
    Cell Significance Index: 514.9800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.5467
    Cell Significance Index: 310.2700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.2614
    Cell Significance Index: 17.2100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.1904
    Cell Significance Index: 138.7300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1212
    Cell Significance Index: 222.5100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9440
    Cell Significance Index: 852.3600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9276
    Cell Significance Index: 332.7200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6107
    Cell Significance Index: 99.3300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6063
    Cell Significance Index: 65.9500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5733
    Cell Significance Index: 25.3600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5125
    Cell Significance Index: 19.4100
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.4811
    Cell Significance Index: 6.9200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4567
    Cell Significance Index: 27.4200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4559
    Cell Significance Index: 45.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.4224
    Cell Significance Index: 10.5600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4154
    Cell Significance Index: 23.3100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.4095
    Cell Significance Index: 25.1700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3685
    Cell Significance Index: 162.9100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3643
    Cell Significance Index: 50.0300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3530
    Cell Significance Index: 244.1300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3400
    Cell Significance Index: 41.8100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3176
    Cell Significance Index: 9.1500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2682
    Cell Significance Index: 20.5800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2444
    Cell Significance Index: 6.8300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2419
    Cell Significance Index: 43.6100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2054
    Cell Significance Index: 4.4500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1949
    Cell Significance Index: 13.4800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1777
    Cell Significance Index: 11.9500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1737
    Cell Significance Index: 3.3900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1546
    Cell Significance Index: 2.6500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1211
    Cell Significance Index: 66.1100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1029
    Cell Significance Index: 13.1900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0854
    Cell Significance Index: 3.0000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0783
    Cell Significance Index: 147.5100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0782
    Cell Significance Index: 49.6900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0694
    Cell Significance Index: 106.8300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0509
    Cell Significance Index: 93.9200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0498
    Cell Significance Index: 22.6200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0070
    Cell Significance Index: 9.4600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0032
    Cell Significance Index: 0.1500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0155
    Cell Significance Index: -9.7100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0247
    Cell Significance Index: -18.3100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0370
    Cell Significance Index: -27.1400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0434
    Cell Significance Index: -32.8700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0593
    Cell Significance Index: -33.4200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0606
    Cell Significance Index: -2.8500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0740
    Cell Significance Index: -12.6400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1174
    Cell Significance Index: -5.3200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1195
    Cell Significance Index: -25.1700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1205
    Cell Significance Index: -34.6700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1455
    Cell Significance Index: -14.8600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1540
    Cell Significance Index: -22.3900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1635
    Cell Significance Index: -11.5600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1800
    Cell Significance Index: -5.1600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1844
    Cell Significance Index: -23.8300
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1901
    Cell Significance Index: -3.0500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2022
    Cell Significance Index: -4.8500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2628
    Cell Significance Index: -30.0000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2631
    Cell Significance Index: -27.3900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2658
    Cell Significance Index: -13.8100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2730
    Cell Significance Index: -31.2700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3005
    Cell Significance Index: -8.1800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3111
    Cell Significance Index: -36.6900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3221
    Cell Significance Index: -8.2800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3268
    Cell Significance Index: -6.7800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3318
    Cell Significance Index: -8.8600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3594
    Cell Significance Index: -23.1900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3760
    Cell Significance Index: -6.2900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3806
    Cell Significance Index: -10.8600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3893
    Cell Significance Index: -8.2900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3928
    Cell Significance Index: -8.6000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3998
    Cell Significance Index: -12.8100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4224
    Cell Significance Index: -31.4800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4428
    Cell Significance Index: -27.1500
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.4571
    Cell Significance Index: -1.9900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4674
    Cell Significance Index: -37.0200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5021
    Cell Significance Index: -31.6500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.5132
    Cell Significance Index: -7.3500
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.5275
    Cell Significance Index: -7.5800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5429
    Cell Significance Index: -28.2800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.5809
    Cell Significance Index: -9.7900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.6398
    Cell Significance Index: -13.5800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.6697
    Cell Significance Index: -35.1600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7746
    Cell Significance Index: -24.6700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7868
    Cell Significance Index: -25.7600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.8699
    Cell Significance Index: -17.2000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.8835
    Cell Significance Index: -30.9500
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.8952
    Cell Significance Index: -11.2700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.9075
    Cell Significance Index: -18.2200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Proto-oncogene**: The SKI gene is a proto-oncogene, which means it has the potential to become an oncogene (cancer-causing gene) if mutated or overexpressed. 2. **Tumor suppressor function**: SKI acts as a tumor suppressor by inhibiting the activity of oncogenes and promoting cell growth arrest, apoptosis, and differentiation. 3. **Negative regulation**: SKI negatively regulates multiple signaling pathways, including the Wnt, BMP, and TGF-β pathways, which are involved in embryonic development, tissue homeostasis, and cancer suppression. 4. **Cell type-specific expression**: SKI is highly expressed in neural progenitor cells, GABAergic neurons, and other cell types involved in the development and maintenance of the nervous system. **Pathways and Functions** 1. **Wnt signaling pathway**: SKI negatively regulates the Wnt signaling pathway, which is involved in embryonic development, tissue homeostasis, and cancer suppression. 2. **BMP signaling pathway**: SKI negatively regulates the BMP signaling pathway, which is involved in embryonic development, bone morphogenesis, and cancer suppression. 3. **TGF-β signaling pathway**: SKI negatively regulates the TGF-β signaling pathway, which is involved in embryonic development, tissue homeostasis, and cancer suppression. 4. **Cell growth and differentiation**: SKI promotes cell growth arrest, apoptosis, and differentiation by inhibiting the activity of oncogenes and promoting the expression of tumor suppressor genes. 5. **Neural development and maintenance**: SKI is highly expressed in neural progenitor cells, GABAergic neurons, and other cell types involved in the development and maintenance of the nervous system. **Clinical Significance** 1. **Cancer suppression**: SKI acts as a tumor suppressor by inhibiting the activity of oncogenes and promoting cell growth arrest, apoptosis, and differentiation, which can lead to cancer suppression. 2. **Neurological disorders**: Mutations or deletions in the SKI gene have been associated with neurological disorders, such as glioblastoma, medulloblastoma, and neural tube defects. 3. **Neurodevelopmental disorders**: SKI is highly expressed in neural progenitor cells, GABAergic neurons, and other cell types involved in the development and maintenance of the nervous system, which suggests its potential role in neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 4. **Therapeutic potential**: SKI has been identified as a potential therapeutic target for the treatment of cancer and neurological disorders, such as glioblastoma and neural tube defects. In conclusion, the SKI proto-oncogene plays a crucial role in regulating various cellular processes, including cell growth, differentiation, and survival. Its tumor suppressor function and negative regulation of multiple signaling pathways make it a potential therapeutic target for the treatment of cancer and neurological disorders.

Genular Protein ID: 2401459919

Symbol: SKI_HUMAN

Name: Ski oncogene

UniProtKB Accession Codes:

P12755 Q5SYT7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 1 EvolutionaryTrace 1 GO 51 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2762147

Title: Isolation of human cDNA clones of ski and the ski-related gene, sno.

PubMed ID: 2762147

DOI: 10.1093/nar/17.14.5489

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 12874272

Title: Requirement of the co-repressor homeodomain-interacting protein kinase 2 for ski-mediated inhibition of bone morphogenetic protein-induced transcriptional activation.

PubMed ID: 12874272

DOI: 10.1074/jbc.m307112200

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19049980

Title: SKI and MEL1 cooperate to inhibit transforming growth factor-beta signal in gastric cancer cells.

PubMed ID: 19049980

DOI: 10.1074/jbc.m808989200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23103230

Title: In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

PubMed ID: 23103230

DOI: 10.1016/j.ajhg.2012.10.002

PubMed ID: 23023332

Title: Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

PubMed ID: 23023332

DOI: 10.1038/ng.2421

PubMed ID: 24357594

Title: De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

PubMed ID: 24357594

DOI: 10.1002/ajmg.a.36340

PubMed ID: 24736733

Title: The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

PubMed ID: 24736733

DOI: 10.1038/ejhg.2014.61

Sequence Information:

  • Length: 728
  • Mass: 80005
  • Checksum: 9B78C4840A28C2DA
  • Sequence:
    • MEAAAGGRGC FQPHPGLQKT LEQFHLSSMS SLGGPAAFSA RWAQEAYKKE SAKEAGAAAV 
PAPVPAATEP PPVLHLPAIQ PPPPVLPGPF FMPSDRSTER CETVLEGETI SCFVVGGEKR 
LCLPQILNSV LRDFSLQQIN AVCDELHIYC SRCTADQLEI LKVMGILPFS APSCGLITKT 
DAERLCNALL YGGAYPPPCK KELAASLALG LELSERSVRV YHECFGKCKG LLVPELYSSP 
SAACIQCLDC RLMYPPHKFV VHSHKALENR TCHWGFDSAN WRAYILLSQD YTGKEEQARL 
GRCLDDVKEK FDYGNKYKRR VPRVSSEPPA SIRPKTDDTS SQSPAPSEKD KPSSWLRTLA 
GSSNKSLGCV HPRQRLSAFR PWSPAVSASE KELSPHLPAL IRDSFYSYKS FETAVAPNVA 
LAPPAQQKVV SSPPCAAAVS RAPEPLATCT QPRKRKLTVD TPGAPETLAP VAAPEEDKDS 
EAEVEVESRE EFTSSLSSLS SPSFTSSSSA KDLGSPGARA LPSAVPDAAA PADAPSGLEA 
ELEHLRQALE GGLDTKEAKE KFLHEVVKMR VKQEEKLSAA LQAKRSLHQE LEFLRVAKKE 
KLREATEAKR NLRKEIERLR AENEKKMKEA NESRLRLKRE LEQARQARVC DKGCEAGRLR 
AKYSAQIEDL QVKLQHAEAD REQLRADLLR EREAREHLEK VVKELQEQLW PRARPEAAGS 
EGAAELEP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.