Sequence Detail

ID/Version

Q5SW45 Q3V3W3 (UniProt | EBI)

Last sequence update: 2004-12-21
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Tectonic-like complex member MKS1 {ECO:0000305};AltName: Full=Meckel syndrome type 1 protein homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 561 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Mks1	MKS transition zone complex subunit 1	69	104	3	16

Sequence references in MGI

J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:105230 Kyttala M, et al., MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet. 2006 Feb;38(2):155-7
J:151414 Tammachote R, et al., Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Hum Mol Genet. 2009 Sep 1;18(17):3311-23
J:159145 Dawe HR, et al., The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet. 2007 Jan 15;16(2):173-86
J:173396 Sang L, et al., Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011 May 13;145(4):513-28
J:176174 Garcia-Gonzalo FR, et al., A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet. 2011 Aug;43(8):776-84
J:178421 Dowdle WE, et al., Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet. 2011 Jul 15;89(1):94-110
J:178978 Chih B, et al., A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol. 2011;14(1):61-72