Fkrp - fukutin related protein Gene

Mus musculus

Also known as MDC1C; LGMD1I; A830029B19Rik

Gene ID: 243853 | Gene type: protein coding

About Fkrp

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	Reference	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	Reference	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	Reference	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

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

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