Homo sapiens Gene: FKRP | |||||||||||||||
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Summary | |||||||||||||||
InnateDB Gene | IDBG-58993.6 | ||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||
Gene Symbol | FKRP | ||||||||||||||
Gene Name | fukutin related protein | ||||||||||||||
Synonyms | |||||||||||||||
Species | Homo sapiens | ||||||||||||||
Ensembl Gene | ENSG00000181027 | ||||||||||||||
Encoded Proteins |
fukutin related protein
fukutin related protein
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Protein Structure | |||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||
Entrez Gene | |||||||||||||||
Summary |
This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008] |
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Gene Information | |||||||||||||||
Type | Protein coding | ||||||||||||||
Genomic Location | Chromosome 19:46746046-46776988 | ||||||||||||||
Strand | Forward strand | ||||||||||||||
Band | q13.32 | ||||||||||||||
Transcripts | |||||||||||||||
Interactions | |||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Cross-References | |||||||||||||||
SwissProt | |||||||||||||||
TrEMBL | |||||||||||||||
UniProt Splice Variant | |||||||||||||||
Entrez Gene | |||||||||||||||
UniGene | Hs.515493 Hs.679147 | ||||||||||||||
RefSeq | NM_001039885 NM_024301 XM_005259247 XM_005259248 XM_005259249 XM_005259250 XM_006723373 XM_006723374 XM_006723375 | ||||||||||||||
HUGO | |||||||||||||||
OMIM | |||||||||||||||
CCDS | CCDS12691 | ||||||||||||||
HPRD | 05962 | ||||||||||||||
IMGT | |||||||||||||||
EMBL | |||||||||||||||
GenPept | |||||||||||||||
RNA Seq Atlas | |||||||||||||||