Gene
fkrp
- ID
- ZDB-GENE-070412-4
- Name
- fukutin related protein
- Symbol
- fkrp Nomenclature History
- Previous Names
-
- zgc:162829
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable transferase activity. Acts upstream of or within several processes, including muscle attachment; skeletal myofibril assembly; and vasculogenesis. Predicted to be located in membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including cloacal chamber; immature eye; nervous system; neural keel; and otic vesicle. Used to study muscular dystrophy and muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in dilated cardiomyopathy and muscular dystrophy (multiple). Orthologous to human FKRP (fukutin related protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 38 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2I | Alliance | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | 607155 |
| congenital muscular dystrophy-dystroglycanopathy type A5 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | 613153 |
| muscular dystrophy-dystroglycanopathy type B5 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 | 606612 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| muscular dystrophy | AB + MO1-fkrp | control | Thornhill et al., 2008 |
| muscular dystrophy-dystroglycanopathy type B1 | AB + MO3-fkrp | standard conditions | Bailey et al., 2019 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Fukutin-related protein, stem domain | LicD/FKTN/FKRP, nucleotidyltransferase domain | LicD transferase |
|---|---|---|---|---|---|
| UniProtKB:A4QP37 | InterPro | 536 | |||
| UniProtKB:Q0PIP5 | InterPro | 536 |
- Genome Browsers
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-fkrp | polyclonal | Rabbit |
|
Life Technologies (Invitrogen)
|
3 |
Plasmids
No data available