Tbio FKRP Fukutin-related protein

Protein Summary

Description

Catalyzes the transfer of CDP-ribitol to ribitol 5-phosphate previously attached by FKTN/fukutin of to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:25279699, PubMed:26923585, PubMed:29477842). This constitutes the second step in the formation of the ribose 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:25279699, PubMed:26923585, PubMed:29477842). 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 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]

Uniprot Accession IDs

• Q9H9S5
• A8K5G7

Gene Name

• FKRP

Ensembl ID

• ENST00000318584
• ENSP00000326570
• ENSG00000181027
• ENST00000391909
• ENSP00000375776

Symbol

• MDC1C
• LGMD2I
• LGMDR9
• MDDGA5
• MDDGB5
• MDDGC5

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
phenotype	0.81
histone modification site profile	0.75
tissue sample	0.73
cellular component	0.7
cell line	0.54

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 157.43   (req: < 5)

Gene RIFs: 61   (req: <= 3)

Antibodies: 232   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 157.43   (req: >= 5)

Gene RIFs: 61   (req: > 3)

Antibodies: 232   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0