FKRP
entrez
79147
canonical
uniprot
Q9H9S5
canonical
ensembl
ENSG00000181027
resolver
ensp
ENSP00000326570
resolver
ensp
ENSP00000375776
resolver
ensp
ENSP00000578900
resolver
ensp
ENSP00000578901
resolver
ensp
ENSP00000578902
resolver
ensp
ENSP00000578903
resolver
ensp
ENSP00000578904
resolver
ensp
ENSP00000578905
resolver
ensp
ENSP00000599347
resolver
ensp
ENSP00000599348
resolver
ensp
ENSP00000599349
resolver
ensp
ENSP00000599350
resolver
ensp
ENSP00000632183
resolver
ensp
ENSP00000632184
resolver
ensp
ENSP00000632185
resolver
ensp
ENSP00000632186
resolver
enst
ENST00000318584
resolver
enst
ENST00000391909
resolver
enst
ENST00000908841
resolver
enst
ENST00000908842
resolver
enst
ENST00000908843
resolver
enst
ENST00000908844
resolver
enst
ENST00000908845
resolver
enst
ENST00000908846
resolver
enst
ENST00000929288
resolver
enst
ENST00000929289
resolver
enst
ENST00000929290
resolver
enst
ENST00000929291
resolver
enst
ENST00000962124
resolver
enst
ENST00000962125
resolver
enst
ENST00000962126
resolver
enst
ENST00000962127
resolver
genesymbol
FKRP
resolver
hgnc
HGNC:17997
resolver
uniprot
A8K5G7
resolver
uniprot_entry
FKRP_HUMAN
resolver
uniprot_sec
A8K5G7
resolver
amino_acid_sequence
MRLTRCQAALAAAITLNLLVLFYVSWLQHQPRNSRARGPRRASAAGPRVTVLVREFEAFDNAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRPAAASRPETYVATEFVALVPDGARAEAPGLLERMVEALRAGSARLVAAPVATANPARCLALNVSLREWTARYGAAPAAPRCDALDGDAVVLLRARDLFNLSAPLARPVGTSLFLQTALRGWAVQLLDLTFAAARQPPLATAHARWKAEREGRARRAALLRALGIRLVSWEGGRLEWFGCNKETTRCFGTVVGDTPAYLYEERWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWDYDVDLGIYLEDVGNCEQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSESNHLHVDLWPFYPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLPFAGFVAQAPNNYRRFLELKFGPGVIENPQYPNPALLSLTGSG
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:15121789}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5 (MDDGB5) [MIM:606612]: A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements. {ECO:0000269|PubMed:11592034, ECO:0000269|PubMed:12654965, ECO:0000269|PubMed:12666124, ECO:0000269|PubMed:14652796, ECO:0000269|PubMed:17336067, ECO:0000269|PubMed:31949166}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]: An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients. {ECO:0000269|PubMed:11741828, ECO:0000269|PubMed:12666124, ECO:0000269|PubMed:14523375, ECO:0000269|PubMed:14647208, ECO:0000269|PubMed:23800702, ECO:0000269|PubMed:30345904, ECO:0000269|PubMed:31949166}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.8.-
uniprot
proteins
function
FUNCTION: Catalyzes the transfer of a ribitol 5-phosphate from CDP-L-ribitol to the ribitol 5-phosphate previously attached by FKTN/fukutin 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, PubMed:27194101, PubMed:29477842, PubMed:31949166). 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:25279699, PubMed:26923585, PubMed:27194101, PubMed:29477842, PubMed:31949166). {ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:26923585, ECO:0000269|PubMed:27194101, ECO:0000269|PubMed:29477842, ECO:0000269|PubMed:31949166}.
uniprot
proteins
mass_dalton
54568
uniprot
proteins
mutagenesis
MUTAGEN 88; /note="Y->F: Affects the tetramer assembly. Decreases the ribitol-5-phosphate transferase activity of about 80%."; /evidence="ECO:0000269|PubMed:31949166"; MUTAGEN 360; /note="D->A: Does not affect protein expression. Loss of ribitol-5-phosphate transferase activity."; /evidence="ECO:0000269|PubMed:31949166"; MUTAGEN 362; /note="D->A: Decrease in ribitol-5-phosphate transferase activity. Does not affect protein expression. Loss of ribitol-5-phosphate transferase activity."; /evidence="ECO:0000269|PubMed:26923585, ECO:0000269|PubMed:31949166"; MUTAGEN 364; /note="D->A: Does not affect protein expression. Loss of ribitol-5-phosphate transferase activity."; /evidence="ECO:0000269|PubMed:31949166"; MUTAGEN 416; /note="D->A: Does not affect protein expression. Loss of ribitol-5-phosphate transferase activity."; /evidence="ECO:0000269|PubMed:31949166
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:26923585, ECO:0000269|PubMed:27194101, ECO:0000269|PubMed:31949166}.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:19900540, ECO:0000269|PubMed:21886772}.
uniprot
proteins
protein_family
LicD transferase family
uniprot
proteins
pubmed
11592034
uniprot
proteins
pubmed
11741828
uniprot
proteins
pubmed
12654965
uniprot
proteins
pubmed
12666124
uniprot
proteins
pubmed
14523375
uniprot
proteins
pubmed
14647208
uniprot
proteins
pubmed
14652796
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15121789
uniprot
proteins
pubmed
15213246
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17336067
uniprot
proteins
pubmed
17554798
uniprot
proteins
pubmed
19900540
uniprot
proteins
pubmed
21886772
uniprot
proteins
pubmed
23800702
uniprot
proteins
pubmed
25279699
uniprot
proteins
pubmed
26923585
uniprot
proteins
pubmed
27194101
uniprot
proteins
pubmed
29416295
uniprot
proteins
pubmed
29477842
uniprot
proteins
pubmed
30345904
uniprot
proteins
pubmed
31949166
uniprot
proteins
sequence_length
495
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:17554798, ECO:0000269|PubMed:21886772, ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:29477842, ECO:0000305|PubMed:26923585}; Single-pass type II membrane protein {ECO:0000305}. Secreted {ECO:0000269|PubMed:19900540}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:Q8CG64}. Rough endoplasmic reticulum {ECO:0000269|PubMed:15213246}. Cytoplasm {ECO:0000250|UniProtKB:Q8CG64}. Note=According to some studies 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 (By similarity). At the Golgi apparatus localizes to the middle-to-trans-cisternae, as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in myocytes (PubMed:17554798, PubMed:21886772). In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum (PubMed:15213246). {ECO:0000250|UniProtKB:Q8CG64, ECO:0000269|PubMed:15213246, ECO:0000269|PubMed:17554798, ECO:0000269|PubMed:19900540, ECO:0000269|PubMed:21886772}.
uniprot
proteins
transmembrane_region
TRANSMEM 7..29; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins