InnateDB Protein
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IDBP-58995.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FKRP
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Protein Name
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fukutin related protein
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000326570
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InnateDB Gene
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IDBG-58993 (FKRP)
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Protein Structure
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Function |
Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1).
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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.
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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.
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Tissue Specificity |
Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007074
LicD
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PFAM |
PF04991
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9H9S5
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PhosphoSite |
PhosphoSite-
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TrEMBL |
M0R342
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UniProt Splice Variant |
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Entrez Gene |
79147
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UniGene |
Hs.679147
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RefSeq |
NP_077277
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HUGO |
HGNC:17997
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OMIM |
606596
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CCDS |
CCDS12691
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HPRD |
05962
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IMGT |
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EMBL |
AC008622
AJ314847
AK022638
AK095497
AK291282
BC002612
CH471126
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GenPept |
AAH02612
BAB14146
BAF83971
BAG53071
CAC85633
EAW57444
EAW57445
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