Sequence Detail

ID/Version

Q8CG64 Q8BJR3 (UniProt | EBI)

Last sequence update: 2003-03-01
Last annotation update: 2024-03-27

Sequence description from provider

RecName: Full=Ribitol 5-phosphate transferase FKRP {ECO:0000305}; EC=2.7.8.- {ECO:0000269|PubMed:26923585};AltName: Full=Fukutin-related protein {ECO:0000303|PubMed:12471058}; EC=2.4.2.- {ECO:0000250|UniProtKB:Q9H9S5};AltName: Full=Ribitol

Provider

SWISS-PROT

Sequence

Polypeptide 494 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	Fkrp	fukutin related protein	99	97	3	14

Sequence references in MGI

J:80808 Esapa CT, et al., Functional requirements for fukutin-related protein in the Golgi apparatus. Hum Mol Genet. 2002 Dec 15;11(26):3319-31
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:122734 Beedle AM, et al., Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex. J Biol Chem. 2007 Jun 8;282(23):16713-7
J:159047 Lu PJ, et al., Mutations alter secretion of fukutin-related protein. Biochim Biophys Acta. 2010 Feb;1802(2):253-8
J:164448 Chan YM, et al., Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. Hum Mol Genet. 2010 Oct 15;19(20):3995-4006
J:234365 Kanagawa M, et al., Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. Cell Rep. 2016 Mar 8;14(9):2209-23
J:257098 Blaeser A, et al., Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes. Hum Genet. 2013 Aug;132(8):923-34