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
IDBP-58995 fukutin related protein
IDBP-246736 fukutin related protein
IDBP-762822
IDBP-766172
IDBP-766070
IDBP-763973
IDBP-762401
IDBP-763324
IDBP-765777
IDBP-765620
IDBP-765881
IDBP-761090
IDBP-763284
IDBP-765942
IDBP-760811
IDBP-764978
IDBP-766167
IDBP-765206
IDBP-761005
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
Accession GO Term
Molecular Function
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
ENSMUSG00000048920 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000013985 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
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