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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 fu ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000318584
  • ENSP00000326570
  • ENSG00000181027
  • ENST00000391909
  • ENSP00000375776

Symbol
  • MDC1C
  • LGMD2I
  • LGMDR9
  • MDDGA5
  • MDDGB5
  • MDDGC5
Illumination Graph
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


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 146.01   (req: < 5)
Gene RIFs: 45   (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: 146.01   (req: >= 5)
Gene RIFs: 45   (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
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
smoking status measurement
1
1
1
57.5
sun exposure measurement
1
1
0
11.3
35.5
eye measurement
1
1
0
11.3
35.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
smoking status measurement
1
57.5
sun exposure measurement
0
11.3
35.5
eye measurement
0
11.3
35.5
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
fukutin related protein
716804
Mouse
MGI:2447586
243853
Rat
RGD:1305852
308390
Dog
fukutin related protein
VGNC:40896
484426
Cow
fukutin related protein
VGNC:29029
539701
Species
Name
OMA
EggNOG
Inparanoid
Macaque
fukutin related protein
Mouse
Rat
Dog
fukutin related protein
Cow
fukutin related protein
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q9H9S5-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (12)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (86)
1 – 10 of 86
SLC39A9
Tbio
Family: Transporter
Novelty: 0.06143625
p_int: 0.999427233
p_ni: 0.000572757
p_wrong: 1e-8
Data Source: BioPlex
SYNE4
Tbio
Novelty: 0.0739848
p_int: 0.991215165
p_ni: 0.008784828
p_wrong: 7e-9
Data Source: BioPlex
SLC7A1
Tbio
Family: Transporter
Novelty: 0.00197313
p_int: 0.982776909
p_ni: 0.01722307
p_wrong: 2.1e-8
Data Source: BioPlex
ASGR2
Tbio
Novelty: 0.14671716
p_int: 0.979596835
p_ni: 0.020403165
Data Source: BioPlex
SLC9A6
Tbio
Family: Transporter
Novelty: 0.01410234
p_int: 0.971284678
p_ni: 0.028715322
Data Source: BioPlex
RHOT2
Tbio
Family: Enzyme
Novelty: 0.01712732
p_int: 0.970518837
p_ni: 0.029481163
Score: 0.183
Data Source: BioPlex,STRINGDB
VNN2
Tbio
Novelty: 0.02286648
p_int: 0.959468759
p_ni: 0.04053124
p_wrong: 2e-9
Data Source: BioPlex
B4GAT1
Tbio
Family: Enzyme
Novelty: 0.14959923
p_int: 0.936008613
p_ni: 0.063991385
p_wrong: 1e-9
Score: 0.759
Data Source: BioPlex,STRINGDB
SLC39A4
Tbio
Family: Transporter
Novelty: 0.00742159
p_int: 0.932832918
p_ni: 0.066907113
p_wrong: 0.000259969
Data Source: BioPlex
HAUS7
Tbio
Novelty: 1.11657571
p_int: 0.927852915
p_ni: 0.072147084
p_wrong: 1e-9
Data Source: BioPlex
Publication Statistics
PubMed Score  146.01

PubMed score by year
PubTator Score  105.61

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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