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
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from Roscioli et al., 2012
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa35955Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
Human Disease
Associated With crppa Human Ortholog
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
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Associated With crppa Via Experimental Models
Gene Ontology
Protein Domains
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
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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
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 15
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA ispd-201 (1) Ensembl 1,702 nt
mRNA ispd-202 (1) Ensembl 1,906 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH73-144M15ZFIN Curated Data
Contained inBACCH211-219C8ZFIN Curated Data
EncodesESTeu371Thisse et al., 2005
EncodescDNAMGC:154151ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCRPPA7
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
MouseCrppa12
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
Citations
1 - 5 of 5
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