ENSMUSG00000029050


Mus musculus

Features
Gene ID: ENSMUSG00000029050
  
Biological name :Ski
  
Synonyms : Ski / SKI proto-oncogene
  
Possible biological names infered from orthology : P12755
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: E2
Gene start: 155154075
Gene end: 155222592
  
Corresponding Affymetrix probe sets: 10519105 (MoGene1.0st)   1426373_at (Mouse Genome 430 2.0 Array)   1429192_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000030917
Ensembl peptide - ENSMUSP00000081120
NCBI entrez gene - 20481     See in Manteia.
MGI - MGI:98310
RefSeq - NM_011385
RefSeq - XM_006538685
RefSeq Peptide - NP_035515
swissprot - B1AUF2
swissprot - B1AUF1
Ensembl - ENSMUSG00000029050
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 skiaENSDARG00000042151Danio rerio
 skibENSDARG00000008034Danio rerio
 SKIENSGALG00000001229Gallus gallus
 SKIENSG00000157933Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Skil / Q60665 / SKI-like / P12757* / SKI like proto-oncogene*ENSMUSG0000002766037
Skor1 / Q8BX46 / SKI family transcriptional corepressor 1 / P84550*ENSMUSG0000002224523
Skor2 / A7M7C7 / SKI family transcriptional corepressor 2 / Q2VWA4*ENSMUSG0000009151921


Protein motifs (from Interpro)
Interpro ID Name
 IPR003380  SKI/SNO/DAC domain
 IPR009061  Putative DNA-binding domain superfamily
 IPR010919  SAND-like domain superfamily
 IPR014890  c-SKI SMAD4-binding domain
 IPR023216  Transcription regulator SKI/SnoN
 IPR028760  Ski oncogene
 IPR037000  Ski-like, DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0010626 negative regulation of Schwann cell proliferation IEA
 biological_processGO:0014902 myotube differentiation IEA
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0030514 negative regulation of BMP signaling pathway IEA
 biological_processGO:0032926 negative regulation of activin receptor signaling pathway IEA
 biological_processGO:0043388 positive regulation of DNA binding IEA
 biological_processGO:0045668 negative regulation of osteoblast differentiation IEA
 biological_processGO:0060395 SMAD protein signal transduction IEA
 biological_processGO:0070207 protein homotrimerization IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0016604 nuclear body IEA
 cellular_componentGO:0016605 PML body IEA
 cellular_componentGO:0032991 protein-containing complex IEA
 molecular_functionGO:0003714 transcription corepressor activity IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0019901 protein kinase binding IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA
 molecular_functionGO:0046332 SMAD binding IEA
 molecular_functionGO:0070491 repressing transcription factor binding IEA


Pathways (from Reactome)
Pathway description
Signaling by BMP
Downregulation of SMAD2/3:SMAD4 transcriptional activity


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000074 abnormal neurocranium morphology "malformed bones of the skull enclosing the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Snai2tm1Look/Snai2tm1Look
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000108 midline facial cleft "incomplete merging or fusion of the tissues normally uniting to form the face" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Snai2tm1Look/Snai2tm1Look
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

Allelic Composition: Skitm1Cco/Ski+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0000454 abnormal jaw morphology "malformation of the bony framework of the mouth where the teeth are held" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Snai2tm1Look/Snai2tm1Look
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Snai2tm1Look/Snai2tm1Look
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Gli3Xt-J/Gli3Xt-J,Skitm1Cco/Ski+
Genetic Background: involves: C3H * C57BL/6

 MP:0000734 muscle hypoplasia "underdevelopment or atrophy of muscle" [J:15108]
Show

Allelic Composition: Snai2tm1Look/Snai2tm1Look
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0000819 abnormal olfactory bulb morphology "malformation or absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Snai2tm1Look/Snai2tm1Look
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

Allelic Composition: Skitm1Cco/Ski+
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0001302 eyelids open at birth "widely open eyes instead of closed at perinatal stage" [J:51966]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Snai2tm1Look/Snai2tm1Look
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Gli3Xt-J/Gli3Xt-J,Skitm1Cco/Ski+
Genetic Background: involves: C3H * C57BL/6

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Skitm1Cco/Ski+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003036 vertebral transformation "homeotic transformation of a specific vertebrae to adopt the fate of another" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0003048 abnormal cervical vertebrae morphology "malformation of any or all of the seven bony segments of the spine located anterior to the thoracic vertebrae" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0004174 abnormal spine curvature "deviation from the typical S-shape of the spine" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0004200 reduced fetal size "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0004376 absent frontal bone "absence of the bone forming the forehead and roof of the eye orbit" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0004383 absent interparietal bone "absence of the bone of the cranium that lies above and anterior to the occipital bone in some mammals" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0004419 absent parietal bone "absence of the curved bone forming part of the vault of the cranium" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0004447 small basioccipital bone "reduced size of the bone in the base of the cranium, frequently forming a part of the occipital in the adult, but usually distinct in the young" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0004448 abnormal presphenoid bone morphology "any structural anomaly of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0004462 small basisphenoid bone "reduced size of part of the base of the cranium between the basioccipital and the presphenoid, which usually ossifies separately in the embryo or in the young, and becomes a part of the sphenoid in the adult; in many animals it persists as a separate bone between the basioccipital bone and the presphenoidal bone" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0004499 increased incidence of chemically-induced tumors "higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdkn2atm1Rdp/Cdkn2atm1Rdp,Tg(Mt1-HGFSF)19Lmb/0
Genetic Background: involves: 129/Sv * C57BL/6J * FVB/N * SJL

 MP:0004607 abnormal cervical atlas morphology "any structural anomaly of the first (topmost, C1) cervical vertebra which supports the globe of the head" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0004608 abnormal cervical axis morphology "any structural anomaly of the second cervical vertebra (C2) which forms the pivot upon which the first cervical (atlas, C1) vertebra rotates" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0004819 decreased skeletal muscle mass "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0006302 abnormal ectomesenchyme morphology "abnormality in the mesenchymal cells derived from neural crest cells that contribute to development of the hard and soft tissue in the head and neck, including the branchial arches." [J:119939, mnk:Michelle Knowlton_MGI Curator]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0008029 abnormal paraxial mesoderm "failure or abnormality in the formation of the mesoderm lying at either side of the midline embryonic notochord; on segmentation, paraxial mesoderm forms the paired somites" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0009402 decreased skeletal muscle fiber diameter "decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0011109 partial lethality throughout fetal growth and development "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Snai2tm1Look/Snai2tm1Look
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0011703 increased fibroblast proliferation "greater the expansion rate of a fibroblast cell population by cell division" [MGI:csmith]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

Allelic Composition: Skitm1Cco/Ski+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0012175 flat face "the appearance of a flattened surface outline or contour of a normally rounded face of an organism" [MGI:anna]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

 MP:0012431 increased lymphoma incidence "greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period" [http://orcid.org/0000-0001-5208-3432, MGI:csmith]
Show

Allelic Composition: Skitm1Cco/Ski+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0030223 mandibular hyperostosis "hyperostosis (bony overgrowth) of the mandible" [HP:0004472]
Show

Allelic Composition: Skitm1Cco/Skitm1Cco
Genetic Background: involves: 129P2/OlaHsd * Black Swiss

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000024563 Smad2 / Q62432 / Mothers against decapentaplegic homolog 2 / Q15796* / SMAD family member 2*  / complex / reaction
 ENSMUSG00000024515 Smad4 / P97471 / Mothers against decapentaplegic homolog 4 / Q13485* / SMAD family member 4*  / reaction / complex
 ENSMUSG00000032402 Smad3 / Q8BUN5 / Mothers against decapentaplegic homolog 3 / P84022* / SMAD family member 3*  / reaction / complex
 ENSMUSG00000027796 Smad9 / Q9JIW5 / Mothers against decapentaplegic homolog 9 / O15198* / SMAD family member 9*  / reaction / complex
 ENSMUSG00000031681 Smad1 / P70340 / SMAD family member 1 / Q15797*  / reaction / complex
 ENSMUSG00000021540 Smad5 / P97454 / Mothers against decapentaplegic homolog 5 / Q99717* / SMAD family member 5*  / complex / reaction
 ENSMUSG00000029478 Ncor2 / Q9WU42 / Nuclear receptor corepressor 2 / Q9Y618*  / complex / reaction






 

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