Fkrp
entrez
243853
canonical
uniprot
Q8CG64
canonical
ensembl
ENSMUSG00000048920
resolver
ensp
ENSMUSP00000059091
resolver
ensp
ENSMUSP00000232826
resolver
ensp
ENSMUSP00000232835
resolver
ensp
ENSMUSP00000232836
resolver
enst
ENSMUST00000061390
resolver
genesymbol
Fkrp
resolver
uniprot
Q8BJR3
resolver
uniprot_entry
FKRP_MOUSE
resolver
uniprot_sec
Q8BJR3
resolver
amino_acid_sequence
MRLTRCWAALAAAIILNLLVFFYVSWLQHQPRNSRARGPRRTSAIGPRVTVLIREFEAFDNAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRPAAASRPETYVATEFVALVPDGARAESPGHLERMVEALRGSSARLVAAPVATANPARCLALNVSLREWTARYDPAPSAPRCDALDGDAVLLMRSRDLFNLSVPLARPLATSLFLQTALRGWAVQLLDLTFAAARQPPLATAHARWKAEREGRSRRAALLRSLGIRLVSWEGGRLEWFGCSKESARCFGTVAGDTPAYLYEGRWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWDYDVDLGIYLEDVGNCEQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSENNHLHVDLWPFYPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLPFAGFMAQAPNNYRRFLELKFGPGVIENPEYPNPALLSLTGG
uniprot
proteins
ec_number
2.4.2.-
uniprot
proteins
ec_number
2.7.8.-
uniprot
proteins
function
FUNCTION: Catalyzes the transfer of CDP-ribitol to ribitol 5-phosphate previously attached by FKTN/fukutin of to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:26923585). This constitutes the second step in the formation of the ribose 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:26923585). {ECO:0000269|PubMed:26923585}.
uniprot
proteins
mass_dalton
54852
uniprot
proteins
mutagenesis
MUTAGEN 2..5; /note="RLTR->ELTE: Localized to the perinuclear region but not retained in or targeted to the medial part of the Golgi apparatus."; /evidence="ECO:0000269|PubMed:12471058"; MUTAGEN 276; /note="L->I: Reduced secretion to the medium; localizes mainly to the Golgi apparatus. Mild dystrophy with reduced alpha-dystroglycan glycosylation and no apparent brain defects."; /evidence="ECO:0000269|PubMed:17554798, ECO:0000269|PubMed:19900540, ECO:0000269|PubMed:23591631"; MUTAGEN 318; /note="C->Y: Reduced secretion to the medium."; /evidence="ECO:0000269|PubMed:19900540"; MUTAGEN 362..364; /note="DVD->NNN: Does not alter dystroglycan processing in vitro."; /evidence="ECO:0000269|PubMed:12471058"; MUTAGEN 405; /note="V->L: Localizes mainly to the ER compartment."; /evidence="ECO:0000269|PubMed:17554798"; MUTAGEN 448; /note="P->L: Not properly targeted to the Golgi apparatus; strongly reduced secretion to the medium; localizes mainly to the ER compartment. Strongly impaired glycosylation of alpha-dystroglycan in muscles and brain."; /evidence="ECO:0000269|PubMed:12471058, ECO:0000269|PubMed:17554798, ECO:0000269|PubMed:19900540, ECO:0000269|PubMed:20675713, ECO:0000269|PubMed:23591631
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:26923585}.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250}.
uniprot
proteins
protein_family
LicD transferase family
uniprot
proteins
pubmed
12471058
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
17452335
uniprot
proteins
pubmed
17554798
uniprot
proteins
pubmed
19900540
uniprot
proteins
pubmed
20675713
uniprot
proteins
pubmed
23591631
uniprot
proteins
pubmed
26923585
uniprot
proteins
pubmed
29416295
uniprot
proteins
sequence_length
494
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:12471058, ECO:0000269|PubMed:17554798, ECO:0000269|PubMed:26923585}; Single-pass type II membrane protein {ECO:0000305}. Secreted {ECO:0000269|PubMed:19900540}. Cell membrane, sarcolemma {ECO:0000269|PubMed:17452335}. Rough endoplasmic reticulum {ECO:0000250|UniProtKB:Q9H9S5}. Cytoplasm {ECO:0000269|PubMed:29416295}. Note=The N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted (PubMed:19900540). Localization at the cell membrane may require the presence of dystroglycan (PubMed:17452335). At the Golgi apparatus localizes to the middle-to-trans-cisternae (PubMed:12471058, PubMed:17554798). Detected in rough endoplasmic reticulum in myocytes (By similarity). {ECO:0000250|UniProtKB:Q9H9S5, ECO:0000269|PubMed:12471058, ECO:0000269|PubMed:17452335, ECO:0000269|PubMed:17554798, ECO:0000269|PubMed:19900540}.
uniprot
proteins
transmembrane_region
TRANSMEM 7..29; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins