Fkrp - fukutin related protein Gene

Also Known as MDC1C; LGMD1I; A830029B19Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 243853

Summary

Enables dystroglycan binding activity. Acts upstream of or within glycoprotein biosynthetic process and protein processing. Located in Golgi apparatus; extracellular space; and sarcolemma. Is expressed in brain. Used to study autosomal recessive limb-girdle muscular dystrophy type 2I; muscular dystrophy; muscular dystrophy-dystroglycanopathy; and muscular dystrophy-dystroglycanopathy type B5. Human ortholog(s) of this gene implicated in dilated cardiomyopathy and muscular dystrophy (multiple). Orthologous to human FKRP (fukutin related protein). [provided by Alliance of Genome Resources, Apr 2022]

Fkrp Products (2)

mRNA Protein Name
NM_001358846.1 NP_001345775.1 ribitol 5-phosphate transferase FKRP
NM_173430.2 NP_775606.1 ribitol 5-phosphate transferase FKRP

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables dystroglycan binding IDA
IDA: Inferred from direct assay
17452335 MGI
enables laminin binding IDA
IDA: Inferred from direct assay
21224063 MGI
enables phosphotransferase activity, for other substituted phosphate groups IDA
IDA: Inferred from direct assay
26923585 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
15574464 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within adult walking behavior IMP
IMP: Inferred from mutant phenotype
27627455 MGI
acts upstream of or within basement membrane organization IMP
IMP: Inferred from mutant phenotype
28039900 MGI
acts upstream of or within bone mineralization IMP
IMP: Inferred from mutant phenotype
27109613 MGI
acts upstream of or within brain development IMP
IMP: Inferred from mutant phenotype
20675713 MGI
acts upstream of or within camera-type eye development IMP
IMP: Inferred from mutant phenotype
19155270 MGI
acts upstream of or within central nervous system development IMP
IMP: Inferred from mutant phenotype
20675713 MGI
acts upstream of or within connective tissue development IMP
IMP: Inferred from mutant phenotype
21224063 MGI
acts upstream of or within connective tissue replacement IMP
IMP: Inferred from mutant phenotype
26574668 MGI
acts upstream of or within creatine metabolic process IDA
IDA: Inferred from direct assay
23817215 MGI
acts upstream of or within diaphragm development IMP
IMP: Inferred from mutant phenotype
27711214 MGI
acts upstream of or within extracellular matrix organization IDA
IDA: Inferred from direct assay
31296900 MGI
acts upstream of or within eye development IMP
IMP: Inferred from mutant phenotype
20675713 MGI
acts upstream of or within filtration diaphragm assembly IMP
IMP: Inferred from mutant phenotype
27711214 MGI
acts upstream of or within gene expression IMP
IMP: Inferred from mutant phenotype
22270369 MGI
acts upstream of or within glial cell differentiation IMP
IMP: Inferred from mutant phenotype
28039900 MGI
acts upstream of or within glycolytic process IDA
IDA: Inferred from direct assay
31296900 MGI
acts upstream of or within glycoprotein biosynthetic process IDA
IDA: Inferred from direct assay
12471058 MGI
acts upstream of or within heart development IMP
IMP: Inferred from mutant phenotype
27711214 MGI
acts upstream of or within heart morphogenesis IMP
IMP: Inferred from mutant phenotype
27711214 MGI
acts upstream of or within in utero embryonic development IMP
IMP: Inferred from mutant phenotype
23591631 MGI
acts upstream of or within inflammatory response IMP
IMP: Inferred from mutant phenotype
27711214 MGI
acts upstream of or within lipid metabolic process IDA
IDA: Inferred from direct assay
31296900 MGI
acts upstream of or within localization of cell IMP
IMP: Inferred from mutant phenotype
26306834 MGI
acts upstream of or within maintenance of protein localization in endoplasmic reticulum IMP
IMP: Inferred from mutant phenotype
15574464 MGI
acts upstream of or within muscle cell differentiation IMP
IMP: Inferred from mutant phenotype
15574464 MGI
acts upstream of or within muscle contraction IMP
IMP: Inferred from mutant phenotype
28860175 MGI
acts upstream of or within muscle structure development IMP
IMP: Inferred from mutant phenotype
19155270 MGI
acts upstream of or within neuromuscular process IDA
IDA: Inferred from direct assay
23817215 MGI
acts upstream of or within neuromuscular process IGI
IGI: Inferred from genetic interaction
24635668 MGI
acts upstream of or within neuromuscular process IMP
IMP: Inferred from mutant phenotype
23591631 MGI
acts upstream of or within neuron migration IMP
IMP: Inferred from mutant phenotype
19155270 MGI
acts upstream of or within oxygen metabolic process IMP
IMP: Inferred from mutant phenotype
28663375 MGI
acts upstream of or within pentitol metabolic process IDA
IDA: Inferred from direct assay
31296900 MGI
acts upstream of or within pentose metabolic process IDA
IDA: Inferred from direct assay
31296900 MGI
acts upstream of or within phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
IMP: Inferred from mutant phenotype
28039900 MGI
acts upstream of or within protein O-linked mannosylation IMP
IMP: Inferred from mutant phenotype
30150693 MGI
acts upstream of or within protein glycosylation IDA
IDA: Inferred from direct assay
23817215 MGI
acts upstream of or within protein glycosylation IGI
IGI: Inferred from genetic interaction
24635668 MGI
acts upstream of or within protein glycosylation IMP
IMP: Inferred from mutant phenotype
19155270 MGI
acts upstream of or within protein import IMP
IMP: Inferred from mutant phenotype
27561302 MGI
acts upstream of or within protein localization IMP
IMP: Inferred from mutant phenotype
21900571 MGI
acts upstream of or within protein modification process IMP
IMP: Inferred from mutant phenotype
22270369 MGI
acts upstream of or within protein processing IDA
IDA: Inferred from direct assay
12471058 MGI
acts upstream of or within reelin-mediated signaling pathway IMP
IMP: Inferred from mutant phenotype
28039900 MGI
acts upstream of or within reproductive process IMP
IMP: Inferred from mutant phenotype
29571322 MGI
acts upstream of or within respiratory system process IMP
IMP: Inferred from mutant phenotype
29571322 MGI
acts upstream of or within response to activity IMP
IMP: Inferred from mutant phenotype
28663375 MGI
acts upstream of or within response to alcohol IMP
IMP: Inferred from mutant phenotype
30150693 MGI
acts upstream of or within response to glucocorticoid IMP
IMP: Inferred from mutant phenotype
27109613 MGI
acts upstream of or within response to xenobiotic stimulus IMP
IMP: Inferred from mutant phenotype
27109613 MGI
acts upstream of or within skeletal muscle fiber differentiation IMP
IMP: Inferred from mutant phenotype
27561302 MGI
acts upstream of or within skeletal muscle organ development IMP
IMP: Inferred from mutant phenotype
29625576 MGI
acts upstream of or within skeletal muscle tissue development IMP
IMP: Inferred from mutant phenotype
27109613 MGI
acts upstream of or within skeletal muscle tissue regeneration IMP
IMP: Inferred from mutant phenotype
25976249 MGI
acts upstream of or within striated muscle cell differentiation IMP
IMP: Inferred from mutant phenotype
29320543 MGI
Cellular Component GO Annotation Evidence References Source
is active in Golgi apparatus IDA
IDA: Inferred from direct assay
23817215 MGI
located in Golgi apparatus IDA
IDA: Inferred from direct assay
12471058 MGI
located in Golgi membrane IDA
IDA: Inferred from direct assay
26923585 MGI
located in extracellular space IDA
IDA: Inferred from direct assay
19900540 MGI
located in sarcolemma IDA
IDA: Inferred from direct assay
17452335 MGI
is active in skeletal muscle myofibril IDA
IDA: Inferred from direct assay
23817215 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

ribitol 5-phosphate transferase FKRP

fukutin-related protein

  • ribitol-5-phosphate transferase

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04971 FKRP Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Fkrp NCBI NCBI:79147