InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MKKS

Summary

InnateDB Protein

IDBP-54070.6

Last Modified

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

Gene Symbol

MKKS

Protein Name

McKusick-Kaufman syndrome

Synonyms

BBS6; HMCS; KMS; MKS;

Species

Homo sapiens

Ensembl Protein

ENSP00000246062

InnateDB Gene

IDBG-54068 (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. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis. {ECO:0000269PubMed:20080638}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol. 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.

Disease Associations

McKusick-Kaufman syndrome (MKKS) [MIM:236700]: Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects. {ECO:0000269PubMed:10802661}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bardet-Biedl syndrome 6 (BBS6) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269PubMed:10973238, ECO:0000269PubMed:10973251, ECO:0000269PubMed:11179009, ECO:0000269PubMed:11567139, ECO:0000269PubMed:12107442, ECO:0000269PubMed:12677556, ECO:0000269PubMed:12920096, ECO:0000269PubMed:15666242, ECO:0000269PubMed:15770229, ECO:0000269PubMed:21344540, ECO:0000269PubMed:22152675}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed in adult and fetal tissues.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	25 [view]
Protein-Protein	25 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001103	RNA polymerase II repressing transcription factor binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0051082	unfolded protein binding

Biological Process

GO:0001947	heart looping
GO:0006457	protein folding
GO:0007286	spermatid development
GO:0007368	determination of left/right symmetry
GO:0007507	heart development
GO:0007601	visual perception
GO:0007608	sensory perception of smell
GO:0008406	gonad development
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:0032402	melanosome transport
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:0046907	intracellular transport
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:0051877	pigment granule aggregation in cell center
GO:0060027	convergent extension involved in gastrulation
GO:0060271	cilium morphogenesis
GO:0060296	regulation of cilium beat frequency involved in ciliary motility