Homo sapiens Gene: FKRP
Summary
InnateDB Gene IDBG-58993.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol FKRP
Gene Name fukutin related protein
Synonyms LGMD2I; MDC1C; MDDGA5; MDDGB5; MDDGC5;
Species Homo sapiens
Ensembl Gene ENSG00000181027
Encoded Proteins
fukutin related protein
fukutin related protein
Protein Structure
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:47249303-47280245
Strand Forward strand
Band q13.32
Transcripts
ENST00000318584 ENSP00000326570
ENST00000391909 ENSP00000375776
ENST00000595868 ENSP00000471573
ENST00000601299 ENSP00000470103
ENST00000597339
ENST00000593875 ENSP00000470297
ENST00000602250 ENSP00000472807
ENST00000595570 ENSP00000470929
ENST00000597403
ENST00000600629 ENSP00000470096
ENST00000600227 ENSP00000468825
ENST00000602181 ENSP00000472981
ENST00000600646
ENST00000600834 ENSP00000470024
ENST00000600872
ENST00000596974
ENST00000600681
ENST00000596460 ENSP00000469373
ENST00000593800 ENSP00000471209
ENST00000594467 ENSP00000471971
ENST00000600977
ENST00000597313 ENSP00000472370
ENST00000593995
ENST00000593902 ENSP00000470901
ENST00000600005 ENSP00000470335
ENST00000598271 ENSP00000471088
ENST00000593877 ENSP00000472850
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
GO:0009101 glycoprotein biosynthetic process
GO:0016485 protein processing
Cellular Component
GO:0000139 Golgi membrane
GO:0005615 extracellular space
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016021 integral to membrane
GO:0042383 sarcolemma
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q9H9S5
TrEMBL
UniProt Splice Variant
Entrez Gene 79147
UniGene Hs.515493 Hs.679147
RefSeq NM_001039885 NM_024301
HUGO 17997
OMIM 606596
CCDS CCDS12691
HPRD 05962
IMGT
EMBL AC008622 AJ314847 AK022638 AK095497 AK291282 BC002612 CH471126
GenPept AAH02612 BAB14146 BAF83971 BAG53071 CAC85633 EAW57444
ImmGen FKRP (murine)
RNA Seq Atlas 79147