ID:MKKS_HUMAN DESCRIPTION: RecName: Full=McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; AltName: Full=Bardet-Biedl syndrome 6 protein; 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. SUBUNIT: Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8. Interacts with STUB1. Interacts with BBS2 (via coiled coil domain). Interacts with CCDC28B. INTERACTION: Q6ZW61:BBS12; NbExp=10; IntAct=EBI-721319, EBI-6128352; Q9BXC9:BBS2; NbExp=4; IntAct=EBI-721319, EBI-748297; SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, 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. TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. DOMAIN: The substrate-binding apical domain region is sufficient for centrosomal association. DISEASE: Defects in MKKS are the cause of McKusick-Kaufman syndrome (MKKS) [MIM:236700]. MKKS is an autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects. DISEASE: Defects in MKKS are the cause of Bardet-Biedl syndrome type 6 (BBS6) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder 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. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. SIMILARITY: Belongs to the TCP-1 chaperonin family. WEB RESOURCE: Name=Mutations of the MKKS gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/mkksmut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MKKS";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NPJ1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000166 nucleotide binding GO:0001103 RNA polymerase II repressing transcription factor binding GO:0005515 protein binding GO:0005524 ATP binding GO:0044183 protein binding involved in protein folding GO:0051082 unfolded protein binding
Biological Process: GO:0001947 heart looping GO:0006457 protein folding GO:0006458 'de novo' 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:0030837 negative regulation of actin filament polymerization GO:0032402 melanosome transport GO:0033210 leptin-mediated signaling pathway GO:0034260 negative regulation of GTPase activity 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: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:0050896 response to stimulus GO:0050910 detection of mechanical stimulus involved in sensory perception of sound GO:0051131 chaperone-mediated protein complex assembly GO:0051216 cartilage development GO:0051492 regulation of stress fiber assembly GO:0051877 pigment granule aggregation in cell center GO:0060027 convergent extension involved in gastrulation GO:0060271 cilium assembly GO:0060296 regulation of cilium beat frequency involved in ciliary motility GO:0060324 face development GO:0061077 chaperone-mediated protein folding GO:1905515 non-motile cilium assembly
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
