MKKS

MKKS
Identifikatori
Aliasi	MKKS
Vanjski ID-jevi	OMIM: 604896 MGI: 1891836 HomoloGene: 10318 GeneCards: MKKS
Lokacija gena (miš) Hrom. Hromosom 2 (miš)[1] Bend 2|2 F3 Početak 136,715,700 bp[1] Kraj 136,733,309 bp[1]
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
Vrste	Čovjek	Miš
Entrez	8195	59030
Ensembl	n/a	ENSMUSG00000027274
UniProt	Q9NPJ1 Q9HB66	Q9JI70
RefSeq (mRNK)	NM_018848 NM_170784 NM_001394148 NM_001394149	NM_001141946 NM_001286981 NM_001286983 NM_021527
RefSeq (bjelančevina)	NP_061336 NP_740754	NP_001135418 NP_001273910 NP_001273912 NP_067502
Lokacija (UCSC)	n/a	Chr 2: 136.72 – 136.73 Mb
PubMed pretraga	[2]	[3]
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

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.
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.
5. "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

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