InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Mkks

Summary

InnateDB Protein

IDBP-207927.6

Last Modified

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

Gene Symbol

Mkks

Protein Name

McKusick-Kaufman syndrome protein

Synonyms

1300013E18Rik; AI463362; AI957237; Bbs6;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000028730

InnateDB Gene

IDBG-207925 (Mkks)

Protein Structure

UniProt Annotation

Function

Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (By similarity). May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Note=The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome (By similarity). {ECO:0000250}.

Disease Associations

Tissue Specificity

Widely expressed in adult and fetal tissues. Expressed in the developing heart, brain retina, limb buds, as well as in the developing neural tube. Expressed in the embryo in the first and second branchial arches. Expressed in parafin embedded tissue sections of brain, kidney, retina, olfactory epithelium and the ependymal layer of ventricles. Detected only in restricted regions of these tissue sections, including the ciliated border of renal tubules, the connecting cilium and the inner and outer nuclear layers of retina, and the ciliated layer of olfactory epithelia. {ECO:0000269PubMed:15731008}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 20 interaction(s) predicted by orthology.

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

Predicted by orthology
Total	20 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001103	RNA polymerase II repressing transcription factor binding
GO:0005524	ATP binding
GO:0051082	unfolded protein binding

Biological Process

GO:0006457	protein folding
GO:0007286	spermatid development
GO:0007608	sensory perception of smell
GO:0010629	negative regulation of gene expression
GO:0014824	artery smooth muscle contraction
GO:0021756	striatum development
GO:0021766	hippocampus development
GO:0021987	cerebral cortex development
GO:0033210	leptin-mediated signaling pathway
GO:0035058	nonmotile primary cilium assembly
GO:0035176	social behavior
GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway
GO:0040018	positive regulation of multicellular organism growth
GO:0042311	vasodilation
GO:0042384	cilium assembly
GO:0044267	cellular protein metabolic process
GO:0044321	response to leptin
GO:0045444	fat cell differentiation
GO:0045494	photoreceptor cell maintenance
GO:0045776	negative regulation of blood pressure
GO:0048854	brain morphogenesis
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound
GO:0051131	chaperone-mediated protein complex assembly
GO:0051216	cartilage development
GO:0060271	cilium morphogenesis
GO:0060296	regulation of cilium beat frequency involved in ciliary motility