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
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

External links

Ciliary proteins
Categories