FKRP Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | FKRP |
| Official Name | fukutin related protein [Source:HGNC Symbol;Acc:HGNC:17997] |
| Ensembl ID | ENSG00000181027 |
| Bio databases IDs | |
| Aliases | fukutin related protein |
| Synonyms | A830029B19Rik, FKTR, fukutin related protein, LGMD1I, LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5 |
| Species | Human, Homo sapiens |
| 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 human 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.
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
regulated by
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 human 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