• Gene id: 79147

Gene Summary

• Gene Symbol: FKRP   Gene   UCSC   Ensembl
• Aliases: FKTR, LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5
• Gene name: fukutin related protein
• Alternate names: fukutin-related protein, ribitol-5-phosphate transferase,
• Gene location: 19q13.32 (46746014: 46758574)     Exons: 5     NC_000019.10
• Gene summary(Entrez): 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, cognitive disability, and cere
• OMIM: 608537

Protein Summary

• Protein general information: Q9H9S5  
  • Name: Fukutin related protein (EC 2.4.2. ) (Ribitol 5 phosphate transferase)
  • Length: 495  
  • Mass: 54568
  • Tissue specificity: Expressed in the retina (at protein level) (PubMed
• Sequence:

  MRLTRCQAALAAAITLNLLVLFYVSWLQHQPRNSRARGPRRASAAGPRVTVLVREFEAFDNAVPELVDSFLQQDP
  AQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRPAAASRPETYVATEFVALVPDGARAEAPGLLERMVEALRA
  GSARLVAAPVATANPARCLALNVSLREWTARYGAAPAAPRCDALDGDAVVLLRARDLFNLSAPLARPVGTSLFLQ
  TALRGWAVQLLDLTFAAARQPPLATAHARWKAEREGRARRAALLRALGIRLVSWEGGRLEWFGCNKETTRCFGTV
  VGDTPAYLYEERWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWDYDVDLGIYLEDVGNC
  EQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSESNHLHVDLWPFYPRNGVMTKDTWLDHRQDVEFPEHFLQPLV
  PLPFAGFVAQAPNNYRRFLELKFGPGVIENPQYPNPALLSLTGSG

• Structural information:
  • Interpro: IPR007074  
  • PDB: 6KAK 6KAL 6KAM 6KAN 6L7S 6L7T 6L7U
  • PDBsum: 6KAK 6KAL 6KAM 6KAN 6L7S 6L7T 6L7U
  • STRING: ENSP00000326570
• Other Databases: GeneCards:  FKRP  Malacards:  FKRP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035269	protein O-linked mannosylation	IBA	biological process
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0035269	protein O-linked mannosylation	IMP	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0002162	dystroglycan binding	IEA	molecular function
GO:0042383	sarcolemma	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0009101	glycoprotein biosynthetic process	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0005791	rough endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Muscular dystrophy-dystroglycanopathy type B	KEGG:H01960
Congenital muscular dystrophy type 1C	KEGG:H01961
Limb-girdle muscular dystrophy	KEGG:H00593
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Muscular dystrophy-dystroglycanopathy type B	KEGG:H01960
Congenital muscular dystrophy type 1C	KEGG:H01961
Walker-Warburg syndrome	PMID:20236121
Autosomal recessive limb-girdle muscular dystrophy type 2I	PMID:25048216
Muscular dystrophy-dystroglycanopathy type B5	PMID:14652796
limb-girdle muscular dystrophy	PMID:14523375
Cardiomyopathy	PMID:15833432
Muscular dystrophy	PMID:11592034
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq