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{{Infobox_gene}}
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'''McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin''' is a [[protein]] that in humans is encoded by the ''MKKS'' [[gene]].<ref name="pmid9467007">{{cite journal |vauthors=Stone DL, Agarwala R, Schaffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG | title = Genetic and physical mapping of the McKusick-Kaufman syndrome | journal = Hum Mol Genet | volume = 7 | issue = 3 | pages = 475–81 |date=Apr 1998 | pmid = 9467007 | pmc =  | doi =10.1093/hmg/7.3.475 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MKKS McKusick-Kaufman syndrome| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8195| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = McKusick-Kaufman syndrome
| HGNCid = 7108
| Symbol = MKKS
| AltSymbols =; KMS; BBS6; HMCS; MKS
| OMIM = 604896
| ECnumber =
| Homologene = 10318
| MGIid = 1891836
  | GeneAtlas_image1 = PBB_GE_MKKS_218138_at_tn.png
  | Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0051082 |text = unfolded protein binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}}
| Process = {{GNF_GO|id=GO:0006457 |text = protein folding}} {{GNF_GO|id=GO:0007286 |text = spermatid development}} {{GNF_GO|id=GO:0007507 |text = heart development}} {{GNF_GO|id=GO:0007608 |text = sensory perception of smell}} {{GNF_GO|id=GO:0008406 |text = gonad development}} {{GNF_GO|id=GO:0009296 |text = flagellum biogenesis}} {{GNF_GO|id=GO:0035058 |text = sensory cilium biogenesis}} {{GNF_GO|id=GO:0035176 |text = social behavior}} {{GNF_GO|id=GO:0045494 |text = photoreceptor cell maintenance}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}} {{GNF_GO|id=GO:0050910 |text = detection of mechanical stimulus during sensory perception of sound}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 8195
    | Hs_Ensembl = ENSG00000125863
    | Hs_RefseqProtein = NP_061336
    | Hs_RefseqmRNA = NM_018848
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 20
    | Hs_GenLoc_start = 10333839
    | Hs_GenLoc_end = 10362866
    | Hs_Uniprot = Q9NPJ1
    | Mm_EntrezGene = 59030
    | Mm_Ensembl = ENSMUSG00000027274
    | Mm_RefseqmRNA = NM_021527
    | Mm_RefseqProtein = NP_067502
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 136565224
    | Mm_GenLoc_end = 136582823
    | Mm_Uniprot = Q8BGQ3
  }}
}}
'''McKusick-Kaufman syndrome''', also known as '''MKKS''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MKKS McKusick-Kaufman syndrome| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8195| accessdate = }}</ref>


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{{PBB_Summary
{{PBB Summary
| section_title =  
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: MKKS McKusick-Kaufman syndrome| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8195| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez"/>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs  GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome]
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mkks  GeneReviews/NIH/NCBI/UW entry on McKusick-Kaufman Syndrome]
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
{{PBB_Further reading
| citations =  
| citations =
*{{cite journal | author=Stone DL, Agarwala R, Schäffer AA, ''et al.'' |title=Genetic and physical mapping of the McKusick-Kaufman syndrome. |journal=Hum. Mol. Genet. |volume=7 |issue= 3 |pages= 475-81 |year= 1998 |pmid= 9467007 |doi=  }}
*{{cite journal   |vauthors=Stone DL, Slavotinek A, Bouffard GG, etal |title=Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. |journal=Nat. Genet. |volume=25 |issue= 1 |pages= 79–82 |year= 2000 |pmid= 10802661 |doi= 10.1038/75637 }}
*{{cite journal  | author=Stone DL, Slavotinek A, Bouffard GG, ''et al.'' |title=Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. |journal=Nat. Genet. |volume=25 |issue= 1 |pages= 79-82 |year= 2000 |pmid= 10802661 |doi= 10.1038/75637 }}
*{{cite journal   |vauthors=Slavotinek AM, Stone EM, Mykytyn K, etal |title=Mutations in MKKS cause Bardet-Biedl syndrome. |journal=Nat. Genet. |volume=26 |issue= 1 |pages= 15–6 |year= 2000 |pmid= 10973238 |doi= 10.1038/79116 }}
*{{cite journal | author=Slavotinek AM, Stone EM, Mykytyn K, ''et al.'' |title=Mutations in MKKS cause Bardet-Biedl syndrome. |journal=Nat. Genet. |volume=26 |issue= 1 |pages= 15-6 |year= 2000 |pmid= 10973238 |doi= 10.1038/79116 }}
*{{cite journal   |vauthors=Katsanis N, Beales PL, Woods MO, etal |title=Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. |journal=Nat. Genet. |volume=26 |issue= 1 |pages= 67–70 |year= 2000 |pmid= 10973251 |doi= 10.1038/79201 }}
*{{cite journal | author=Katsanis N, Beales PL, Woods MO, ''et al.'' |title=Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. |journal=Nat. Genet. |volume=26 |issue= 1 |pages= 67-70 |year= 2000 |pmid= 10973251 |doi= 10.1038/79201 }}
*{{cite journal  |vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000  | pmc=310948 }}
*{{cite journal  | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi=  }}
*{{cite journal   |vauthors=Beales PL, Katsanis N, Lewis RA, etal |title=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. |journal=Am. J. Hum. Genet. |volume=68 |issue= 3 |pages= 606–16 |year= 2001 |pmid= 11179009 |doi=10.1086/318794  | pmc=1274474 }}
*{{cite journal | author=Beales PL, Katsanis N, Lewis RA, ''et al.'' |title=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. |journal=Am. J. Hum. Genet. |volume=68 |issue= 3 |pages= 606-16 |year= 2001 |pmid= 11179009 |doi=  }}
*{{cite journal   |vauthors=Wiemann S, Weil B, Wellenreuther R, etal |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R  | pmc=311072 }}
*{{cite journal | author=Wiemann S, Weil B, Wellenreuther R, ''et al.'' |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422-35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.154701 }}
*{{cite journal   |vauthors=Simpson JC, Wellenreuther R, Poustka A, etal |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 | pmc=1083732 }}
*{{cite journal | author=Simpson JC, Wellenreuther R, Poustka A, ''et al.'' |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287-92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 }}
*{{cite journal   |vauthors=Katsanis N, Ansley SJ, Badano JL, etal |title=Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. |journal=Science |volume=293 |issue= 5538 |pages= 2256–9 |year= 2001 |pmid= 11567139 |doi= 10.1126/science.1063525 }}
*{{cite journal | author=Katsanis N, Ansley SJ, Badano JL, ''et al.'' |title=Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. |journal=Science |volume=293 |issue= 5538 |pages= 2256-9 |year= 2001 |pmid= 11567139 |doi= 10.1126/science.1063525 }}
*{{cite journal   |vauthors=Deloukas P, Matthews LH, Ashurst J, etal |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
*{{cite journal | author=Deloukas P, Matthews LH, Ashurst J, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865-71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
*{{cite journal   |vauthors=Slavotinek AM, Searby C, Al-Gazali L, etal |title=Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. |journal=Hum. Genet. |volume=110 |issue= 6 |pages= 561–7 |year= 2002 |pmid= 12107442 |doi= 10.1007/s00439-002-0733-3 }}
*{{cite journal | author=Slavotinek AM, Searby C, Al-Gazali L, ''et al.'' |title=Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. |journal=Hum. Genet. |volume=110 |issue= 6 |pages= 561-7 |year= 2002 |pmid= 12107442 |doi= 10.1007/s00439-002-0733-3 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Badano JL, Kim JC, Hoskins BE, etal |title=Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1651–9 |year= 2003 |pmid= 12837689 |doi=10.1093/hmg/ddg188 }}
*{{cite journal | author=Badano JL, Kim JC, Hoskins BE, ''et al.'' |title=Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1651-9 |year= 2003 |pmid= 12837689 |doi=  }}
*{{cite journal   |vauthors=Wiemann S, Arlt D, Huber W, etal |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930 }}
*{{cite journal | author=Wiemann S, Arlt D, Huber W, ''et al.'' |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136-44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 }}
*{{cite journal   |vauthors=Kim JC, Ou YY, Badano JL, etal |title=MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. |journal=J. Cell Sci. |volume=118 |issue= Pt 5 |pages= 1007–20 |year= 2005 |pmid= 15731008 |doi= 10.1242/jcs.01676 }}
*{{cite journal | author=Kim JC, Ou YY, Badano JL, ''et al.'' |title=MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. |journal=J. Cell. Sci. |volume=118 |issue= Pt 5 |pages= 1007-20 |year= 2005 |pmid= 15731008 |doi= 10.1242/jcs.01676 }}
*{{cite journal   |vauthors=Mehrle A, Rosenfelder H, Schupp I, etal |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501 }}
*{{cite journal | author=Mehrle A, Rosenfelder H, Schupp I, ''et al.'' |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415-8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 }}
*{{cite journal   |vauthors=Ewing RM, Chu P, Elisma F, etal |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948 }}
*{{cite journal | author=Ewing RM, Chu P, Elisma F, ''et al.'' |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 20:19, 8 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.[1][2]

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.[2]

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: MKKS McKusick-Kaufman syndrome".

External links

Further reading



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