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MKS1
Identifiers
Aliases	MKS1, BBS13, MES, MKS, POC12, Meckel syndrome, type 1, JBTS28, MKS transition zone complex subunit 1
External IDs	OMIM: 609883; MGI: 3584243; HomoloGene: 9833; GeneCards: MKS1; OMA:MKS1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) Band 17q22 Start 58,205,441 bp End 58,219,605 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 C Start 87,744,041 bp End 87,754,629 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube olfactory zone of nasal mucosa left ovary right ovary ventricular zone body of uterus right adrenal gland ganglionic eminence sural nerve right adrenal cortex Top expressed in neural layer of retina otic vesicle medullary collecting duct renal corpuscle tail of embryo spermatocyte ventricular zone lens parotid gland lacrimal gland More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm ciliary basal body cytosol centrosome cell projection MKS complex membrane cilium ciliary transition zone microtubule organizing center centriole cytoskeleton Biological process epithelial structure maintenance inner ear receptor cell stereocilium organization regulation of Wnt signaling pathway, planar cell polarity pathway regulation of canonical Wnt signaling pathway motile cilium assembly embryonic digit morphogenesis head development embryonic skeletal system development regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning regulation of smoothened signaling pathway common bile duct development neural tube closure determination of left/right symmetry embryonic brain development cell projection organization branching morphogenesis of an epithelial tube cilium assembly ciliary basal body-plasma membrane docking non-motile cilium assembly smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation cardiac septum development smoothened signaling pathway cardiac septum morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54903 380718 Ensembl ENSG00000011143 ENSMUSG00000034121 UniProt Q9NXB0 Q5SW45 RefSeq (mRNA) NM_001165927 NM_017777 NM_001321268 NM_001321269 NM_001330397 NM_001039684 RefSeq (protein) NP_001159399 NP_001308197 NP_001308198 NP_001317326 NP_060247 NP_001034773 Location (UCSC) Chr 17: 58.21 – 58.22 Mb Chr 11: 87.74 – 87.75 Mb PubMed search
Wikidata
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Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.

Function

The MKS1 protein along with meckelin are part of the flagellar apparatus basal body proteome and are required for cilium formation.

Clinical significance

Mutations in the MKS1 are associated with Meckel syndrome or Bardet–Biedl syndrome.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000011143 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000034121 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ 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. S2CID 10676530.
6. 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.
7. 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. S2CID 11815792.
8. 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. S2CID 5282929.

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. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
• 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.
• 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.
• 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.
• 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. S2CID 6528744.
• 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. S2CID 20167521.
• 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. S2CID 22385403.
• 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• 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. S2CID 27589823.

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome

• Genes on human chromosome 17
• Genes mutated in mice