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
- Involved in several processes, including muscle fiber development; regulation of protein glycosylation; and vasculogenesis. Predicted to localize to integral component of membrane. Used to study muscular dystrophy. Human ortholog(s) of this gene implicated in dilated cardiomyopathy and muscular dystrophy (multiple). Is expressed in several structures, including cloacal chamber; immature eye; nervous system; neural keel; and otic vesicle. 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 | Length | LicD/FKTN/FKRP, nucleotidyltransferase domain | LicD transferase |
|---|---|---|---|
|
UniProtKB:A4QP37
|
536 | ||
|
UniProtKB:Q0PIP5
|
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