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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

eu371 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from Roscioli et al., 2012
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

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

Associated With crppa Via Experimental Models

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

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