InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SKI

Summary

InnateDB Protein

IDBP-86171.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SKI

Protein Name

v-ski sarcoma viral oncogene homolog (avian)

Synonyms

SGS; SKV;

Species

Homo sapiens

Ensembl Protein

ENSP00000367797

InnateDB Gene

IDBG-86169 (SKI)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:19049980}.

Subcellular Localization

Nucleus.

Disease Associations

Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]: A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities. {ECO:0000269PubMed:23023332, ECO:0000269PubMed:23103230}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 77 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	77 [view]
Protein-Protein	73 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003682	chromatin binding
GO:0003714	transcription corepressor activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0019901	protein kinase binding
GO:0019904	protein domain specific binding
GO:0031625	ubiquitin protein ligase binding
GO:0046332	SMAD binding
GO:0046811	histone deacetylase inhibitor activity
GO:0070491	repressing transcription factor binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001843	neural tube closure
GO:0002089	lens morphogenesis in camera-type eye
GO:0006351	transcription, DNA-templated
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0008283	cell proliferation
GO:0008285	negative regulation of cell proliferation
GO:0009948	anterior/posterior axis specification
GO:0010467	gene expression
GO:0010626	negative regulation of Schwann cell proliferation
GO:0014902	myotube differentiation
GO:0021772	olfactory bulb development
GO:0022011	myelination in peripheral nervous system
GO:0030177	positive regulation of Wnt signaling pathway
GO:0030326	embryonic limb morphogenesis
GO:0030509	BMP signaling pathway
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030514	negative regulation of BMP signaling pathway
GO:0031064	negative regulation of histone deacetylation
GO:0032926	negative regulation of activin receptor signaling pathway
GO:0035019	somatic stem cell maintenance
GO:0042981	regulation of apoptotic process
GO:0043010	camera-type eye development
GO:0043388	positive regulation of DNA binding
GO:0043585	nose morphogenesis
GO:0045668	negative regulation of osteoblast differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048147	negative regulation of fibroblast proliferation
GO:0048593	camera-type eye morphogenesis
GO:0048741	skeletal muscle fiber development
GO:0048870	cell motility
GO:0060021	palate development
GO:0060041	retina development in camera-type eye
GO:0060325	face morphogenesis
GO:0060349	bone morphogenesis
GO:0060395	SMAD protein signal transduction
GO:0070207	protein homotrimerization

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005667	transcription factor complex
GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0016604	nuclear body
GO:0016605	PML body
GO:0017053	transcriptional repressor complex
GO:0043234	protein complex