Sequence Detail

ID/Version

Q8BR76 Q78U07 (UniProt | EBI)

Last sequence update: 2006-03-07
Last annotation update: 2024-03-27

Sequence description from provider

RecName: Full=Meckelin;AltName: Full=Meckel syndrome type 3 protein homolog;AltName: Full=Transmembrane protein 67;Flags: Precursor;

Provider

SWISS-PROT

Sequence

Polypeptide 992 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	Tmem67	transmembrane protein 67	36	99	3	15

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:144929 Cook SA, et al., A Mouse Model for Meckel Syndrome Type 3. J Am Soc Nephrol. 2009 Apr;20(4):753-64
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:159051 Wang M, et al., Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C. J Biol Chem. 2009 Nov 27;284(48):33377-83
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: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:194966 Leightner AC, et al., The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Hum Mol Genet. 2013 May 15;22(10):2024-40
J:223384 Abdelhamed ZA, et al., The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Dis Model Mech. 2015 Jun;8(6):527-41