MKKS

MKKS
Identifikatori
Aliasi	MKKS
Vanjski ID-jevi	OMIM: 604896 MGI: 1891836 HomoloGene: 10318 GeneCards: MKKS
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	136,733,309 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• nucleotide binding; • GO:0001948, GO:0016582 vezivanje za proteine; • ATP binding; • protein folding chaperone activity; • unfolded protein binding;
Ćelijska komponenta	• citosol; • centrosom; • kinociliary basal body; • intracellular anatomical structure; • centar organizacije mikrotubula; • motile cilium; • citoskelet; • ciliary basal body; • citoplazma; • jedro; • membrana; • integral component of membrane;
Biološki proces	• 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; • Vazodilatacija; • 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; • Savijanje proteina; • melanosome transport; • spermatid development; • artery smooth muscle contraction; • cerebral cortex development; • positive regulation of multicellular organism growth; • socijalno ponašanje; • photoreceptor cell maintenance; • response to leptin; • hippocampus development; • gonad development; • fat cell differentiation; • striatum development; • Vid; • brain morphogenesis; • 'de novo' protein folding; • chaperone-mediated protein folding; • non-motile cilium assembly; • cilium assembly; • GO:0007571 developmental process;
	Izvori:Amigo / QuickGO
Ortolozi
	8195
	59030
	n/a
	ENSMUSG00000027274
	Q9NPJ1; Q9HB66
	Q9JI70
	NM_018848; NM_170784; NM_001394148; NM_001394149
	NM_001141946; NM_001286981; NM_001286983; NM_021527
	NP_061336; NP_740754
	NP_001135418; NP_001273910; NP_001273912; NP_067502
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Pretpostavljeni šaperonin McKusick-Kaufman/Bardet-Biedlovog sindroma je protein koji je kod ljudi kodiran iz gena MKKS.^[4]^[5]

Ovaj gen kodira protein slične sekvence kao i porodica šaperonina. Kodirani protein može imati ulogu u preradi proteina u razvoju udova, srca i reproduktivnog sistema. [

[Mutacije]] u genu MKKS uočene su kod pacijenata sa Bardet-Biedlovog sidroma tip 6 i McKusick-Kaufmanovog sindroma. Za ovaj gen identificirane su dvije varijante transkripta koji kodiraju isti protein.^[5]

Reference

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027274 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: MKKS McKusick-Kaufman syndrome".

Dopunska literatura

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.
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.
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.
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.
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.
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.

Vanjski linkovi

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000027274 - Ensembl, maj 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.

[pmid9467007-4] 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. doi:10.1093/hmg/7.3.475. PMID 9467007.

[entrez-5] "Entrez Gene: MKKS McKusick-Kaufman syndrome".

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