Gene: Ski

Basic information

Tag Content
Uniprot ID Q60698; Q8VIL5;
Entrez ID
Genbank protein ID AAA99669.1; AAL30825.1;
Genbank nucleotide ID
Ensembl protein ID
Ensembl nucleotide ID
Gene name Ski oncogene
Gene symbol Ski
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 9284043
Functional description May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling.
Sequence
MEAAAAGRGG FQQPGLQKTL EQFHLSSMSS LGGPAVSRRA GQEAYKKESA KEAGAATVPA 60
PVPTAAEPPP VLHLPAIQPP PPVLPGPFFM PSDRSTERCE TVLEGETISC FVVGGEKRLC 120
LPQILNSVLR DFSLQQINSV CDELHIYCSR CTADQLEILK VMGILPFSAP SCGLITKTDA 180
ERLCNALLYG GAYPPPCKKE LAASLALGLE LSERSVRVYH ECFGKCKGLL VPELYSSPSA 240
ACIQCLDCRL MYPPHKFVVH SHKALENRTC HWGFDSANWR AYILLSQDYT GKEEQARLGR 300
CLDDVKEKFD YANKYKRRVP RVSEPPASIR PKTDDTSSQS PASSEKDKQS TWLRTLAGSS 360
NKSLGCTHPR QRLSAFRPWS PAVSASEKET SPHLPALIRD SFYSYKSFET AVAPNVALAP 420
PTQQKVVNSP PCTTVVSRAP EPLTTCIQPR KRKLTLDTAG APDMLTPVAA AEEDKDSEAE 480
VEVESREEFT SSLSSLSSPS FTSSSSAKDL SSPGMHAPPV VAPDAAAHVD APSGLEAELE 540
HLRQALEGGL DTKEAKEKFL HEVVKMRVKQ EEKLTAALQA KRTLHQELEF LRVAKKEKLR 600
EATEAKRNLR KEIERLRAEN EKKMKEANES RVRLKRELEQ ARQVRVCDKG CEAGRLRAKY 660
SAQVEDLQAK LQHAEADREQ LRADLLRERE AREHLEKVVR ELQEQLRPRP RPEHPGGESN 720
AELGP 725

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003682 chromatin bindingIGI
GO:0003714 transcription corepressor activityISO
GO:0003714 transcription corepressor activityIDA
GO:0003714 transcription corepressor activityIBA
GO:0005515 protein bindingIPI
GO:0008270 zinc ion bindingISS
GO:0008270 zinc ion bindingISO
GO:0019901 protein kinase bindingISS
GO:0019901 protein kinase bindingISO
GO:0019904 protein domain specific bindingISS
GO:0019904 protein domain specific bindingISO
GO:0031625 ubiquitin protein ligase bindingISS
GO:0031625 ubiquitin protein ligase bindingISO
GO:0042802 identical protein bindingISS
GO:0046332 SMAD bindingISS
GO:0046332 SMAD bindingISO
GO:0046332 SMAD bindingIBA
GO:0046811 histone deacetylase inhibitor activityIGI
GO:0070491 repressing transcription factor bindingISS
GO:0070491 repressing transcription factor bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIISO
GO:0000122 negative regulation of transcription by RNA polymerase IIIDA
GO:0000122 negative regulation of transcription by RNA polymerase IIIBA
GO:0000122 negative regulation of transcription by RNA polymerase IIIGI
GO:0001843 neural tube closureIMP
GO:0002089 lens morphogenesis in camera-type eyeIMP
GO:0006351 transcription, DNA-templatedIEA
GO:0008285 negative regulation of cell population proliferationISS
GO:0008285 negative regulation of cell population proliferationISO
GO:0009948 anterior/posterior axis specificationIMP
GO:0010626 negative regulation of Schwann cell proliferationISO
GO:0010626 negative regulation of Schwann cell proliferationISS
GO:0014902 myotube differentiationISO
GO:0014902 myotube differentiationIDA
GO:0014902 myotube differentiationIGI
GO:0021772 olfactory bulb developmentIMP
GO:0022011 myelination in peripheral nervous systemIMP
GO:0030326 embryonic limb morphogenesisIMP
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathwayISO
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathwayISS
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathwayIBA
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathwayIGI
GO:0030514 negative regulation of BMP signaling pathwayISS
GO:0030514 negative regulation of BMP signaling pathwayISO
GO:0030514 negative regulation of BMP signaling pathwayIBA
GO:0030514 negative regulation of BMP signaling pathwayIGI
GO:0031064 negative regulation of histone deacetylationIEA
GO:0032926 negative regulation of activin receptor signaling pathwayISS
GO:0032926 negative regulation of activin receptor signaling pathwayISO
GO:0035019 somatic stem cell population maintenanceIDA
GO:0043010 camera-type eye developmentIMP
GO:0043388 positive regulation of DNA bindingISS
GO:0043388 positive regulation of DNA bindingISO
GO:0043585 nose morphogenesisIMP
GO:0045668 negative regulation of osteoblast differentiationISS
GO:0045668 negative regulation of osteoblast differentiationISO
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIGI
GO:0048147 negative regulation of fibroblast proliferationIMP
GO:0048593 camera-type eye morphogenesisIMP
GO:0048741 skeletal muscle fiber developmentIMP
GO:0060021 roof of mouth developmentIMP
GO:0060041 retina development in camera-type eyeIMP
GO:0060325 face morphogenesisIMP
GO:0060349 bone morphogenesisIMP
GO:0060395 SMAD protein signal transductionISS
GO:0060395 SMAD protein signal transductionISO
GO:0070207 protein homotrimerizationISO
GO:0070208 protein heterotrimerizationISS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005634 nucleusIDA
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmISS
GO:0005654 nucleoplasmISO
GO:0005667 transcription factor complexIPI
GO:0005667 transcription factor complexIBA
GO:0005737 cytoplasmIDA
GO:0005813 centrosomeISO
GO:0016604 nuclear bodyISS
GO:0016604 nuclear bodyISO
GO:0016605 PML bodyISS
GO:0016605 PML bodyISO
GO:0017053 transcriptional repressor complexIDA
GO:0032991 protein-containing complexISO

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0175 Coiled coil
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-0656 Proto-oncogene
KW-1185 Reference proteome
KW-0677 Repeat
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR014890 c-SKI_SMAD4-bd_dom
IPR009061 DNA-bd_dom_put_sf
IPR010919 SAND-like_dom_sf
IPR028760 Ski
IPR003380 SKI/SNO/DAC
IPR037000 Ski_DNA-bd_sf
IPR023216 Tscrpt_reg_SKI_SnoN

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF08782 c-SKI_SMAD_bind
PF02437 Ski_Sno

Protein-protein interaction

Protein-miRNA interaction