Fkrp Gene Summary [Mouse]
Enables dystroglycan binding activity; laminin binding activity; and phosphotransferase activity, for other substituted phosphate groups. Acts upstream of or within several processes, including monocarboxylic acid metabolic process; nervous system development; and skeletal muscle organ development. Located in Golgi membrane; extracellular space; and sarcolemma. Is active in Golgi apparatus and skeletal muscle myofibril. Is expressed in brain. Used to study autosomal recessive limb-girdle muscular dystrophy type 2I; muscular dystrophy; muscular dystrophy-dystroglycanopathy type B1; 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, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Fkrp |
| Official Name | fukutin related protein [Source:MGI Symbol;Acc:MGI:2447586] |
| Ensembl ID | ENSMUSG00000048920 |
| Bio databases IDs | |
| Aliases | fukutin related protein |
| Synonyms | A830029B19Rik, FKTR, fukutin related protein, LGMD1I, LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Fkrp often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- substituted phosphate group transferase
- laminin binding
- enzyme
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulated by
disease
- fibrosis
- limb-girdle muscular dystrophy type 2I
- Walker-Warburg syndrome
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A1
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A5
- congenital muscular dystrophy 1C
- myopathy
- type 2 lissencephaly
- muscular dystrophy-dystroglycanopathy (congenital without mental retardation) type B5
- limb-girdle muscular dystrophy type 2
phenotypes
- abnormal Cajal-Retzius cell morphology
- abnormal Muller cell morphology
- abnormal b wave amplitude
- abnormal brain morphology
- abnormal brain pia mater morphology
- abnormal brainstem morphology
- abnormal cerebellar foliation
- abnormal cerebellar hemisphere morphology
- abnormal cerebellum external granule cell layer morphology
- abnormal cerebral cortex morphology
- abnormal cone electrophysiology
- abnormal cortical marginal zone morphology
- abnormal cortical plate morphology
- abnormal dentate gyrus morphology
- abnormal extensor digitorum longus morphology
- abnormal eye size
- abnormal inferior colliculus morphology
- abnormal meninges morphology
- abnormal neocortex morphology
- abnormal neuronal migration
- abnormal optic disk morphology
- abnormal radial glial cell morphology
- abnormal retina inner limiting membrane morphology
- abnormal retinal ganglion layer morphology
- abnormal retinal inner nuclear layer morphology
- abnormal retinal vasculature morphology
- abnormal skeletal muscle fiber morphology
- abnormal skeletal muscle fiber type ratio
- abnormal stratification in cerebral cortex
- abnormal superior colliculus morphology
- abnormal tectum morphology
- abnormal tibialis anterior morphology
- abnormal vitreous body morphology
- centrally nucleated skeletal muscle fibers
- corneal opacity
- decreased birth body size
- decreased body weight
- decreased skeletal muscle fiber number
- dilated lateral ventricles
- domed cranium
- dystrophic muscle
- ectopic neuron
- edema
- embryonic lethality during organogenesis complete penetrance
- embryonic lethality prior to tooth bud stage
- hydrocephaly
- increased a wave amplitude
- increased circulating alanine transaminase level
- increased circulating creatine kinase level
- increased skeletal muscle fiber diameter
- increased skeletal muscle fiber size
- increased variability of skeletal muscle fiber size
- limb grasping
- muscle weakness
- myopathy
- neonatal lethality incomplete penetrance
- no abnormal phenotype detected
- optic nerve hypoplasia
- parietal bossing
- perinatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- skeletal muscle fiber degeneration
- skeletal muscle fiber necrosis
- skeletal muscle fibrosis
- thin retinal inner nuclear layer
- thin retinal outer nuclear layer
- vitreal fibroplasia
role in cell
- migration
- modification in
- differentiation
- extension
- glycolysis in
- extension in
- localization
- organization
- deposition in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Extracellular Space
- Golgi Apparatus
- cytosol
- Golgi membrane
- nucleoplasm
- myofibrils
- sarcolemma
- rough endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Fkrp gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- filtration diaphragm assembly
- pentitol metabolic process
- response to xenobiotic stimulus
- creatine metabolic process
- skeletal muscle tissue regeneration
- adult walking behavior
- protein kinase B signaling cascade
- inflammatory response
- neuron migration
- heart morphogenesis
- in utero embryonic development
- muscle contraction
- protein tetramerization
- response to glucocorticoid stimulus
- camera-type eye development
- maintenance of protein localization in endoplasmic reticulum
- response to alcohol
- pentose metabolic process
- basement membrane organization
- reelin-mediated signaling pathway
- bone mineralization
- neuromuscular process
- glycolysis
- reproductive process
- brain development
- diaphragm development
- connective tissue development
- respiratory system process
- oxygen metabolic process
- localization of cell
- lipid metabolic process
- protein processing
- response to activity
- protein import
- protein O-linked mannosylation
- glial cell differentiation
Cellular Component
Where in the cell the gene product is active
- extracellular space
- sarcolemma
- cytosol
- rough endoplasmic reticulum
- Golgi apparatus
- Golgi membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- metal ion binding
- phosphotransferase activity, for other substituted phosphate groups
- dystroglycan binding
- laminin binding