- MKS1
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Meckel syndrome, type 1 Identifiers Symbols MKS1; BBS13; FLJ20345; MES; MKS; POC12 External IDs OMIM: 609883 MGI: 3584243 HomoloGene: 9833 GeneCards: MKS1 Gene Gene Ontology Molecular function • protein binding Cellular component • cytoplasm
• centrosome
• cytoskeleton
• cilium
• microtubule basal bodyBiological process • cilium assembly
• branching morphogenesis of a tubeSources: Amigo / QuickGO Orthologs Species Human Mouse Entrez 54903 380718 Ensembl ENSG00000011143 ENSMUSG00000034121 UniProt Q9NXB0 Q5SW45 RefSeq (mRNA) NM_001165927.1 NM_001039684.2 RefSeq (protein) NP_001159399.1 NP_001034773.2 Location (UCSC) Chr 17:
56.28 – 56.3 MbChr 11:
87.67 – 87.68 MbPubMed search [1] [2] Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.[1]
Contents
Function
The MKS1 protein along with meckelin are part of the flagellar apparatus basal body proteome and are required for cilium formation.[2]
Clinical significance
Mutations in the MKS1 are associated with Meckel syndrome[1][3] or Bardet-Biedl syndrome.[4]
References
- ^ a b Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestilä M (February 2006). "MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome". Nat. Genet. 38 (2): 155–7. doi:10.1038/ng1714. PMID 16415886.
- ^ Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA (January 2007). "The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation". Hum. Mol. Genet. 16 (2): 173–86. doi:10.1093/hmg/ddl459. PMID 17185389.
- ^ Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH, Torres VE, Breuning MH, Harris PC (June 2007). "Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3". Hum. Genet. 121 (5): 591–9. doi:10.1007/s00439-007-0341-3. PMID 17377820.
- ^ Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N (April 2008). "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome". Nat. Genet. 40 (4): 443–8. doi:10.1038/ng.97. PMID 18327255.
Further reading
- Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
- Bialas NJ, Inglis PN, Li C, et al. (2009). "Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.". J. Cell. Sci. 122 (Pt 5): 611–24. doi:10.1242/jcs.028621. PMC 2720918. PMID 19208769. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2720918.
- Tammachote R, Hommerding CJ, Sinders RM, et al. (2009). "Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.". Hum. Mol. Genet. 18 (17): 3311–23. doi:10.1093/hmg/ddp272. PMC 2733821. PMID 19515853. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2733821.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Khaddour R, Smith U, Baala L, et al. (2007). "Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.". Hum. Mutat. 28 (5): 523–4. doi:10.1002/humu.9489. PMID 17397051.
- Paavola P, Salonen R, Weissenbach J, Peltonen L (1995). "The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.". Nat. Genet. 11 (2): 213–5. doi:10.1038/ng1095-213. PMID 7550354.
- Auber B, Burfeind P, Herold S, et al. (2007). "A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.". Clin. Genet. 72 (5): 454–9. doi:10.1111/j.1399-0004.2007.00880.x. PMID 17935508.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Frank V, Ortiz Brüchle N, Mager S, et al. (2007). "Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.". Hum. Mutat. 28 (6): 638–9. doi:10.1002/humu.9496. PMID 17437276.
External links
Nephrocystin Basal body Cilia Dynein Radial spokes RSPH1 · RSPH3 · RSPH4A · RSPH6A · RSPH9 · RSPH10BOther Categories:- Human proteins
- Chromosome 17 gene stubs
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