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FKRP Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1). Defects in FKRP are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5). MDDGA5 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, 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. Defects in FKRP are the cause of muscular dystrophy- dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5). MDDGB5 is a congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, a secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of MDDGB5 patients have brain involvements. Defects in FKRP are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C5 (MDDGC5); also known as limb-girdle muscular dystrophy type 2I. MDDGC5 is an autosomal recessive disorder 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. Belongs to the LicD transferase family. Note: This description may include information from UniProtKB.
Protein type: EC 2.-.-.-; Membrane protein, integral; Transferase
Chromosomal Location of Human Ortholog: 19q13.32
Cellular Component: cytosol; dystrophin-associated glycoprotein complex; extracellular space; Golgi apparatus; Golgi membrane; integral component of membrane; nucleus; rough endoplasmic reticulum; sarcolemma
Molecular Function: transferase activity
Biological Process: protein amino acid O-linked mannosylation; protein processing
Disease: Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 5; Muscular Dystrophy-dystroglycanopathy (congenital With Or Without Mental Retardation), Type B, 5; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 5
Reference #:  Q9H9S5 (UniProtKB)
Alt. Names/Synonyms: FKRP; FLJ12576; fukutin related protein; Fukutin-related protein; LGMD2I; MDC1C; MGC2991
Gene Symbols: FKRP
Molecular weight: 54,568 Da
Basal Isoelectric point: 7.05  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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