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 enable D-ribitol-5-phosphate cytidylyltransferase activity and protein homodimerization activity. Involved in protein O-linked mannosylation. Acts upstream of or within brain morphogenesis; muscle cell development; and regulation of protein glycosylation. Predicted to be located in cytoplasm. Predicted to be active in 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 type 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa35955 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-crppa | N/A | Roscioli et al., 2012 |
| MO2-crppa | N/A | Roscioli et al., 2012 |
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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 type 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 | Additional Resources | 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 | InterPro | 275 | ||||
| UniProtKB:A0JPF9 | InterPro | 462 | ||||
| UniProtKB:A0A8M3B184 | InterPro | 250 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-144M15 | ZFIN Curated Data | |
| Contained in | BAC | CH211-219C8 | ZFIN Curated Data | |
| Encodes | EST | eu371 | Thisse et al., 2005 | |
| Encodes | cDNA | MGC:154151 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001077802 (1) | 1734 nt | ||
| Genomic | GenBank:BX470068 (2) | 210511 nt | ||
| Polypeptide | UniProtKB:A0JPF9 (1) | 462 aa |
- Franklin, C., Dwyer, D.S. (2020) Candidate Risk Genes for Bipolar Disorder are Highly Conserved during Evolution and Highly Interconnected. Bipolar disorders. 23(4):400-408
- Serafini, P.R., Feyder, M.J., Hightower, R.M., Garcia-Perez, D., Vieira, N.M., Lek, A., Gibbs, D.E., Moukha-Chafiq, O., Augelli-Szafran, C.E., Kawahara, G., Widrick, J.J., Kunkel, L.M., Alexander, M.S. (2018) A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. JCI insight. 3(18):
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Roscioli, T., Kamsteeg, E.J., Buysse, K., Maystadt, I., van Reeuwijk, J., van den Elzen, C., van Beusekom, E., Riemersma, M., Pfundt, R., Vissers, L.E., Schraders, M., Altunoglu, U., Buckley, M.F., Brunner, H.G., Grisart, B., Zhou, H., Veltman, J.A., Gilissen, C., Mancini, G.M., Delrée, P., Willemsen, M.A., Ramadža, D.P., Chitayat, D., Bennett, C., Sheridan, E., Peeters, E.A., Tan-Sindhunata, G.M., de Die-Smulders, C.E., Devriendt, K., Kayserili, H., El-Hashash, O.A., Stemple, D.L., Lefeber, D.J., Lin, Y.Y., and van Bokhoven, H. (2012) Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nature Genetics. 44(5):581-585
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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