MKKS

McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.[5][6]

MKKS
Identifiers
Aliases	MKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome
External IDs	OMIM: 604896 MGI: 1891836 HomoloGene: 10318 GeneCards: MKKS
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p12.2 Start 10,401,009 bp[1] End 10,434,222 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 F3 Start 136,873,780 bp[2] End 136,891,389 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • nucleotide binding • GO:0001948 protein binding • RNA polymerase II repressing transcription factor binding • ATP binding • protein binding involved in protein folding • unfolded protein binding Cellular component • cytosol • centrosome • kinociliary basal body • intracellular • microtubule organizing center • motile cilium • cytoskeleton • ciliary basal body • cytoplasm • cell nucleus • membrane • integral component of membrane Biological process • pigment granule aggregation in cell center • regulation of cilium beat frequency involved in ciliary motility • chaperone-mediated protein complex assembly • negative regulation of actin filament polymerization • negative regulation of appetite by leptin-mediated signaling pathway • response to stimulus • negative regulation of blood pressure • convergent extension involved in gastrulation • leptin-mediated signaling pathway • vasodilation • intracellular transport • negative regulation of gene expression • regulation of stress fiber assembly • detection of mechanical stimulus involved in sensory perception of sound • heart looping • sensory perception of smell • heart development • cartilage development • face development • determination of left/right symmetry • GO:0034259 negative regulation of GTPase activity • protein folding • melanosome transport • spermatid development • artery smooth muscle contraction • cerebral cortex development • positive regulation of multicellular organism growth • social organism behavior • photoreceptor cell maintenance • response to leptin • hippocampus development • gonad development • fat cell differentiation • striatum development • visual perception • brain morphogenesis • 'de novo' protein folding • chaperone-mediated protein folding • non-motile cilium assembly • cilium morphogenesis • developmental process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8195	59030
Ensembl	ENSG00000125863	ENSMUSG00000027274
UniProt	Q9NPJ1 Q9HB66	Q9JI70
RefSeq (mRNA)	NM_018848 NM_170784	NM_001141946 NM_001286981 NM_001286983 NM_021527
RefSeq (protein)	NP_061336 NP_740754	NP_001135418 NP_001273910 NP_001273912 NP_067502
Location (UCSC)	Chr 20: 10.4 – 10.43 Mb	Chr 2: 136.87 – 136.89 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

This gene encodes a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in protein processing in limb, cardiac and reproductive system development. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 6 and McKusick–Kaufman syndrome. Two transcript variants encoding the same protein have been identified for this gene.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000125863 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027274 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Stone DL, Agarwala R, Schaffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG (Apr 1998). "Genetic and physical mapping of the McKusick-Kaufman syndrome". Hum Mol Genet. 7 (3): 475–81. doi:10.1093/hmg/7.3.475. PMID 9467007.
6. "Entrez Gene: MKKS McKusick-Kaufman syndrome".

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome
• GeneReviews/NIH/NCBI/UW entry on McKusick–Kaufman syndrome

Further reading

• Stone DL, Slavotinek A, Bouffard GG, et al. (2000). "Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome". Nat. Genet. 25 (1): 79–82. doi:10.1038/75637. PMID 10802661. S2CID 2868670.
• Slavotinek AM, Stone EM, Mykytyn K, et al. (2000). "Mutations in MKKS cause Bardet-Biedl syndrome". Nat. Genet. 26 (1): 15–6. doi:10.1038/79116. PMID 10973238. S2CID 62795101.
• Katsanis N, Beales PL, Woods MO, et al. (2000). "Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet–Biedl syndrome". Nat. Genet. 26 (1): 67–70. doi:10.1038/79201. PMID 10973251. S2CID 20313506.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Beales PL, Katsanis N, Lewis RA, et al. (2001). "Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci". Am. J. Hum. Genet. 68 (3): 606–16. doi:10.1086/318794. PMC 1274474. PMID 11179009.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
• Katsanis N, Ansley SJ, Badano JL, et al. (2001). "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder". Science. 293 (5538): 2256–9. doi:10.1126/science.1063525. PMID 11567139. S2CID 41822166.
• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
• Slavotinek AM, Searby C, Al-Gazali L, et al. (2002). "Mutation analysis of the MKKS gene in McKusick–Kaufman syndrome and selected Bardet-Biedl syndrome patients". Hum. Genet. 110 (6): 561–7. doi:10.1007/s00439-002-0733-3. PMID 12107442. S2CID 23568108.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Badano JL, Kim JC, Hoskins BE, et al. (2003). "Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus". Hum. Mol. Genet. 12 (14): 1651–9. doi:10.1093/hmg/ddg188. PMID 12837689.
• Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
• Kim JC, Ou YY, Badano JL, et al. (2005). "MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis". J. Cell Sci. 118 (Pt 5): 1007–20. doi:10.1242/jcs.01676. PMID 15731008.
• Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.