MKS1

Protein-coding gene in the species Homo sapiens
MKS1
Identifiers
AliasesMKS1, BBS13, MES, MKS, POC12, Meckel syndrome, type 1, JBTS28, MKS transition zone complex subunit 1
External IDsOMIM: 609883; MGI: 3584243; HomoloGene: 9833; GeneCards: MKS1; OMA:MKS1 - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for MKS1
Genomic location for MKS1
Band17q22Start58,205,441 bp[1]
End58,219,605 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for MKS1
Genomic location for MKS1
Band11|11 CStart87,744,041 bp[2]
End87,754,629 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 11: 87.74 – 87.75 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.[5]

Function

The MKS1 protein along with meckelin are part of the flagellar apparatus basal body proteome and are required for cilium formation.[6]

Clinical significance

Mutations in the MKS1 are associated with Meckel syndrome[5][7] or Bardet–Biedl syndrome.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000011143 – Ensembl, May 2017
  2. ^ a b c 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. ^ 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. 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