InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FKRP

Summary

InnateDB Protein

IDBP-246736.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FKRP

Protein Name

fukutin related protein

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000375776

InnateDB Gene

IDBG-58993 (FKRP)

Protein Structure

UniProt Annotation

Function

Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1).

Subcellular Localization

Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Cell membrane, sarcolemma {ECO:0000250}. Rough endoplasmic reticulum. Note=According to some studies the N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted. Localization at the cell membrane may require the presence of dystroglycan. At the Golgi apparatus localizes to the middle-to- trans-cisternae, as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in myocytes. In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum.

Disease Associations

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 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. {ECO:0000269PubMed:15121789}. Note=The disease is caused by mutations affecting the gene represented in this entry.Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation 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:0000269PubMed:11592034, ECO:0000269PubMed:12654965, ECO:0000269PubMed:12666124, ECO:0000269PubMed:14652796, ECO:0000269PubMed:17336067}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:11741828, ECO:0000269PubMed:12666124, ECO:0000269PubMed:14523375, ECO:0000269PubMed:14647208, ECO:0000269PubMed:23800702}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0016740	transferase activity

Biological Process

Cellular Component

GO:0000139	Golgi membrane
GO:0005615	extracellular space
GO:0005791	rough endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0016021	integral component of membrane
GO:0042383	sarcolemma