GO_REF:0000024
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
GO_REF:0000033
Annotation inferences using phylogenetic trees
GO_REF:0000044
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
GO_REF:0000052
Gene Ontology annotation based on curation of immunofluorescence data
PMID:15213246
Subcellular localization of fukutin and fukutin-related protein in muscle cells.
PMID:17554798
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
PMID:19900540
Mutations alter secretion of fukutin-related protein.
PMID:21886772
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction.
PMID:25279699
The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.
PMID:26923585
Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.
PMID:27194101
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.
PMID:27601598
Direct Mapping of Additional Modifications on Phosphorylated O-glycans of α-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for Dystroglycanopathy.
PMID:29477842
Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5.
PMID:31949166
Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy.
Reactome:R-HSA-9940735
FKTN transfers RboP to GalNAc-GlcNAc-ManP-DAG1
Reactome:R-HSA-9940756
FKRP dimer transfers RboP to matriglycan chain
Reactome:R-HSA-9940805
RXYLT1 transfers initial Xyl to matriglycan chain
Reactome:R-HSA-9948070
POMGNT1 catalyzes FKRP:FKTN:RXYLT1 formation
PMID:17452335
Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex.
PMID:29884773
CDP-glycerol inhibits the synthesis of the functional O-mannosyl glycan of α-dystroglycan.
file:human/FKRP/FKRP-source-evidence.md
FKRP source evidence, context coverage and experimental boundaries