Gene
crppa
- ID
- ZDB-GENE-061110-16
- Name
- CDP-L-ribitol pyrophosphorylase A
- Symbol
- crppa Nomenclature History
- Previous Names
-
- ispd
- sb:eu371
- zgc:154151 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have D-ribitol-5-phosphate cytidylyltransferase activity and protein homodimerization activity. Involved in several processes, including muscle fiber development; protein O-linked mannosylation; and regulation of protein glycosylation. Predicted to localize to cytosol. Used to study Walker-Warburg syndrome. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2U and congenital muscular dystrophy-dystroglycanopathy A7. Orthologous to human CRPPA (CDP-L-ribitol pyrophosphorylase A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu371 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Roscioli et al., 2012
- 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 2U | Alliance | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | 616052 |
| congenital muscular dystrophy-dystroglycanopathy A7 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 614643 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Walker-Warburg syndrome | WT + MO1-crppa | standard conditions | Roscioli et al., 2012 |
| Walker-Warburg syndrome | WT + MO2-crppa | standard conditions | Roscioli et al., 2012 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018294 | 4-diphosphocytidyl-2C-methyl-D-erythritol synthase, conserved site |
| Domain | IPR040635 | D-ribitol-5-phosphate cytidylyltransferase, C-terminal |
| Family | IPR034683 | Cytidylyltransferase IspD/TarI |
| Homologous_superfamily | IPR029044 | Nucleotide-diphospho-sugar transferases |
Domain Details Per Protein
| Protein | Length | 4-diphosphocytidyl-2C-methyl-D-erythritol synthase, conserved site | Cytidylyltransferase IspD/TarI | D-ribitol-5-phosphate cytidylyltransferase, C-terminal | Nucleotide-diphospho-sugar transferases |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M6Z0R9
|
275 | ||||
|
UniProtKB:A0JPF9
|
462 | ||||
|
UniProtKB:A0A8M3B184
|
250 |
Interactions and Pathways
No data available
Plasmids
No data available