About   Help   FAQ
Crppa Gene Detail
Summary
  • Symbol
    Crppa
  • Name
    CDP-L-ribitol pyrophosphorylase A
  • Synonyms
    4930579E17Rik, Ispd
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923097
    NCBI Gene: 75847
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:36431449-36739502 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 16.84 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2002 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923097
 protein coding gene Chr12:36430334-36739502 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019694
 protein coding gene Chr12:34616532-34922738 (+)
A/J MGP_AJ_G0019660
 protein coding gene Chr12:33529568-33836146 (+)
AKR/J MGP_AKRJ_G0019631
 protein coding gene Chr12:34564610-34868332 (+)
BALB/cJ MGP_BALBcJ_G0019638
 protein coding gene Chr12:33736327-34032208 (+)
C3H/HeJ MGP_C3HHeJ_G0019442
 protein coding gene Chr12:34502635-34816779 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020085
 protein coding gene Chr12:35581728-35923316 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017709
 protein coding gene Chr12:32633077-32926194 (+)
CAST/EiJ MGP_CASTEiJ_G0018995
 protein coding gene Chr12:29556370-29869054 (+)
CBA/J MGP_CBAJ_G0019414
 protein coding gene Chr12:36777034-37103257 (+)
DBA/2J MGP_DBA2J_G0019527
 protein coding gene Chr12:33370667-33667658 (+)
FVB/NJ MGP_FVBNJ_G0019516
 protein coding gene Chr12:33092294-33389121 (+)
LP/J MGP_LPJ_G0019597
 protein coding gene Chr12:34696805-35019449 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019552
 protein coding gene Chr12:36433820-36768612 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020125
 protein coding gene Chr12:34090247-34391187 (+)
PWK/PhJ MGP_PWKPhJ_G0018762
 protein coding gene Chr12:28050060-28357110 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018552
 protein coding gene Chr12:28712848-29024705 (+)
WSB/EiJ MGP_WSBEiJ_G0019045
 protein coding gene Chr12:34348234-34657649 (+)



Homology
more
  • Human Ortholog
    CRPPA, CDP-L-ribitol pyrophosphorylase A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CRPPA, CDP-L-ribitol pyrophosphorylase A
  • Synonyms
    hISPD, ISPD, LGMDR20, MDDGA7, MDDGC7, Nip
  • Links
    NCBI Gene ID: 729920
    neXtProt AC: NX_A4D126
    UniProt: A4D126

  • Chr Location
    7p21.2; chr7:16087525-16502504 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Crppa mouse models; 2 with human CRPPA associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 3 alleles in 3 genetic backgrounds
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for an ENU-induced allele exhibit neonatal lethality due to respiratory failure, abnormal axon guidance and fasciculation, abnormal dorsal funiculus, detachment of radial glial cell endfeet and neuronal heterotopias.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    5
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    708
  • Tissues
    1
  • cDNA Data
    14
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000043153 Ensembl Gene Model | MGI Sequence Detail 308054 C57BL/6J ±  kb
    transcript ENSMUST00000062041 Ensembl | MGI Sequence Detail 2690 Not Applicable  
    polypeptide ENSMUSP00000061646 Ensembl | MGI Sequence Detail 447 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000031039 D-ribitol-5-phosphate cytidylyltransferase
      (term hierarchy)
    • EC
      2.7.7.40
    • InterPro Domains
      IPR018294 4-diphosphocytidyl-2C-methyl-D-erythritol synthase, conserved site
      IPR034683 Cytidylyltransferase IspD/TarI
      IPR040635 D-ribitol-5-phosphate cytidylyltransferase, C-terminal
      IPR029044 Nucleotide-diphospho-sugar transferases
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 14
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2144979
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 5
      Phenotypes 9
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:324289 Tokuoka H, et al., CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model. Nat Commun. 2022 Apr 14;13(1):1847
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory