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MKKS
Identifiers
Aliases	MKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome, MKKS centrosomal shuttling protein
External IDs	OMIM: 604896; MGI: 1891836; HomoloGene: 10318; GeneCards: MKKS; OMA:MKKS - orthologs
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 F3 Start 136,715,700 bp End 136,733,309 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus caudate nucleus left ventricle Brodmann area 9 nucleus accumbens Top expressed in dentate gyrus of hippocampal formation granule cell muscle of thigh morula right kidney blastocyst proximal tubule ventricular zone duodenum tail of embryo embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding protein binding ATP binding protein folding chaperone activity unfolded protein binding Cellular component cytosol centrosome kinociliary basal body intracellular anatomical structure microtubule organizing center motile cilium cytoskeleton ciliary basal body cytoplasm 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 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 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 assembly developmental process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8195 59030 Ensembl n/a ENSMUSG00000027274 UniProt Q9NPJ1 Q9HB66 Q9JI70 RefSeq (mRNA) NM_018848 NM_170784 NM_001394148 NM_001394149 NM_001141946 NM_001286981 NM_001286983 NM_021527 RefSeq (protein) NP_061336 NP_740754 NP_001135418 NP_001273910 NP_001273912 NP_067502 Location (UCSC) n/a Chr 2: 136.72 – 136.73 Mb PubMed search
Wikidata
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McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.

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.

References

1. ^ GRCm38: Ensembl release 89: ENSMUSG00000027274 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. 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. CiteSeerX 10.1.1.332.5058. doi:10.1093/hmg/7.3.475. PMID 9467007.
5. ^ "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. Bibcode:2001Sci...293.2256K. 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. Bibcode:2001Natur.414..865D. 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. Bibcode:2002PNAS...9916899M. 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. S2CID 26831634.
• 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.

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