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Meckel Syndrome Protein Type 1 (MKS1)

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BBS13; MES; MKS; POC12; POC12 Centriolar Protein Homolog

Meckel Syndrome Protein Type 1 (MKS1)
CCC L735
HGNC 7121
MGI 3584243
PubMed 19776033
RGD 1565186
UniProt Q9NXB0
Wiki MKS1
The MKS1 protein along with meckelin are part of the flagellar apparatus basal body proteome and are required for cilium formation.The gene contains an open reading frame (bp 76-1755) coding for a 559-amino acid polypeptide containing a conserved B9 domain. Comparison of sequence across human, mouse, zebrafish, fruit fly, and C. elegans showed high conservation. Human and mouse coding regions are 86 to 88% similar at the nucleotide level and 89% at the amino acid level. In situ hybridization analyses showed a relatively broad tissue expression of Mks1 in mouse embryo at embryonic day 15.5. The expression was especially prominent in tissues showing malformations characteristic of Meckel syndrome: brain, liver, kidney, and digits of the upper limbs. Highest expression was observed in bronchiolar epithelium.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Meckel Syndrome Protein Type 1 (MKS1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Meckel Syndrome Protein Type 1 (MKS1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Meckel Syndrome Protein Type 1 (MKS1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Meckel Syndrome Protein Type 1 (MKS1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Meckel Syndrome Protein Type 1 (MKS1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Meckel Syndrome Protein Type 1 (MKS1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Meckel Syndrome Protein Type 1 (MKS1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Meckel Syndrome Protein Type 1 (MKS1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Meckel Syndrome Protein Type 1 (MKS1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Meckel Syndrome Protein Type 1 (MKS1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Meckel Syndrome Protein Type 1 (MKS1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Meckel Syndrome Protein Type 1 (MKS1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Meckel Syndrome Protein Type 1 (MKS1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Meckel Syndrome Protein Type 1 (MKS1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Meckel Syndrome Protein Type 1 (MKS1) ELISA Kit Customized Service Offer
  1. "MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome."Nat. Genet. 38:155-157(2006) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation."Hum. Mol. Genet. 16:173-186(2007) [PubMed] [Europe PMC] [Abstract]
  6. "Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3."Hum. Mol. Genet. 18:3311-3323(2009) [PubMed] [Europe PMC] [Abstract]
  7. "Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins."J. Cell Sci. 122:611-624(2009) [PubMed] [Europe PMC] [Abstract]
  8. "A meckelin-filamin A interaction mediates ciliogenesis."Hum. Mol. Genet. 21:1272-1286(2012) [PubMed] [Europe PMC] [Abstract]
  9. "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome."Nat. Genet. 40:443-448(2008) [PubMed] [Europe PMC] [Abstract]
  10. ErratumNat. Genet. 40:927-927(2008)
  11. "Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?"Hum. Mutat. 30:E813-E830(2009) [PubMed] [Europe PMC] [Abstract]