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Crppa CDP-L-ribitol pyrophosphorylase A [ Mus musculus (house mouse) ]

Gene ID: 75847, updated on 2-Nov-2024

Summary

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Official Symbol
Crppaprovided by MGI
Official Full Name
CDP-L-ribitol pyrophosphorylase Aprovided by MGI
Primary source
MGI:MGI:1923097
See related
Ensembl:ENSMUSG00000043153 AllianceGenome:MGI:1923097
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ispd; 4930579E17Rik
Summary
Predicted to enable D-ribitol-5-phosphate cytidylyltransferase activity and protein homodimerization activity. Acts upstream of or within axon guidance and protein glycosylation. Predicted to be active in cytosol. Is expressed in brain. Used to study autosomal recessive limb-girdle muscular dystrophy type 2U. 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). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
human all
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Genomic context

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See Crppa in Genome Data Viewer
Location:
12 A3; 12 16.84 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (36430334..36739502)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (36380575..36689503)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_31920 Neighboring gene predicted gene, 34215 Neighboring gene predicted gene, 57589 Neighboring gene predicted gene, 25438 Neighboring gene STARR-seq mESC enhancer starr_31921 Neighboring gene STARR-seq mESC enhancer starr_31923 Neighboring gene predicted gene 7252 Neighboring gene STARR-seq mESC enhancer starr_31924 Neighboring gene microRNA 5099 Neighboring gene predicted gene, 40394

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Conditional targeting of Ispd using paired Cas9 nickase and a single DNA template in mice. Lee AY, et al. FEBS Open Bio, 2014. PMID 25161872, Free PMC Article
  2. CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model. Tokuoka H, et al. Nat Commun, 2022 Apr 14. PMID 35422047, Free PMC Article
  3. Convergence of the ZMIZ1 and NOTCH1 pathways at C-MYC in acute T lymphoblastic leukemias. Rakowski LA, et al. Cancer Res, 2013 Jan 15. PMID 23161489, Free PMC Article
  4. Retinal ganglion cell axon sorting at the optic chiasm requires dystroglycan. Clements R, et al. Dev Biol, 2018 Oct 15. PMID 30149005, Free PMC Article
  5. AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan. Yagi H, et al. Sci Rep, 2013 Nov 21. PMID 24256719, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. we show that activated NOTCH1 and ZMIZ1 collaborate to induce T-ALL in mice
    Title: Convergence of the ZMIZ1 and NOTCH1 pathways at C-MYC in acute T lymphoblastic leukemias.
  2. This study demonistrated that the axonal guidance defects observed in ispd mutant mice.
    Title: Dystroglycan organizes axon guidance cue localization and axonal pathfinding.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables D-ribitol-5-phosphate cytidylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables D-ribitol-5-phosphate cytidylyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables D-ribitol-5-phosphate cytidylyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables cytidylyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables cytidylyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within axon guidance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in isoprenoid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in protein O-linked mannosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein O-linked mannosylation ISO
Inferred from Sequence Orthology
more info
  
involved_in protein O-linked mannosylation ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within protein glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
D-ribitol-5-phosphate cytidylyltransferase
Names
2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein
isoprenoid synthase domain containing
isoprenoid synthase domain-containing protein
notch1-induced protein
NP_001276431.1
NP_001276432.1
NP_001276433.1
NP_001351234.1
NP_848744.2
XP_011242209.2
XP_011242211.1
XP_011242212.2
XP_036013543.1
XP_036013544.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001289502.1 → NP_001276431.1  D-ribitol-5-phosphate cytidylyltransferase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK016317, AK045940, AK051322, AV328524, BB622024
    Consensus CDS
    CCDS88331.1
    UniProtKB/TrEMBL
    A0A1Y7VM96
    Related
    ENSMUSP00000152872.2, ENSMUST00000223205.2
    Conserved Domains (1) summary
    cl11394
    Location:45 → 221
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

  2. NM_001289503.1 → NP_001276432.1  D-ribitol-5-phosphate cytidylyltransferase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AK016317, AK043122, AK051322, BC050993
    Consensus CDS
    CCDS88332.1
    UniProtKB/TrEMBL
    A0A1Y7VK76
    Related
    ENSMUSP00000152823.2, ENSMUST00000221177.2
    Conserved Domains (1) summary
    cl11394
    Location:1 → 172
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

  3. NM_001289504.1 → NP_001276433.1  D-ribitol-5-phosphate cytidylyltransferase isoform 4

    See identical proteins and their annotated locations for NP_001276433.1

    Status: VALIDATED

    Source sequence(s)
    AK045940, BC096030, DV044370
    Consensus CDS
    CCDS88330.1
    UniProtKB/Swiss-Prot
    Q5RJG7
    Related
    ENSMUSP00000152423.2, ENSMUST00000220519.2
    Conserved Domains (1) summary
    cd02516
    Location:45 → 271
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production

  4. NM_001364305.1 → NP_001351234.1  D-ribitol-5-phosphate cytidylyltransferase isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC129022, AC145348, AK045940
    Consensus CDS
    CCDS88329.1
    Related
    ENSMUSP00000152115.2, ENSMUST00000221452.2
    Conserved Domains (1) summary
    cd02516
    Location:45 → 271
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production

  5. NM_178629.6 → NP_848744.2  D-ribitol-5-phosphate cytidylyltransferase isoform 1

    See identical proteins and their annotated locations for NP_848744.2

    Status: VALIDATED

    Source sequence(s)
    AK045940, AK051322, BC050993, BC086665
    Consensus CDS
    CCDS49051.1
    UniProtKB/Swiss-Prot
    Q148Q0, Q501J8, Q5RJG7, Q8BR14, Q8C934, Q8CAE0, Q8CIF0
    Related
    ENSMUSP00000061646.6, ENSMUST00000062041.6
    Conserved Domains (1) summary
    cd02516
    Location:45 → 271
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    36430334..36739502
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036157650.1 → XP_036013543.1  D-ribitol-5-phosphate cytidylyltransferase isoform X2

    Conserved Domains (2) summary
    cd02516
    Location:45 → 271
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
    pfam18706
    Location:281 → 471
    ISPD_C; D-ribitol-5-phosphate cytidylyltransferase C-terminal domain

  2. XM_011243910.3 → XP_011242212.2  D-ribitol-5-phosphate cytidylyltransferase isoform X5

    Conserved Domains (2) summary
    cd02516
    Location:1 → 172
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
    pfam18706
    Location:182 → 315
    ISPD_C; D-ribitol-5-phosphate cytidylyltransferase C-terminal domain

  3. XM_011243907.4 → XP_011242209.2  D-ribitol-5-phosphate cytidylyltransferase isoform X1

    Conserved Domains (2) summary
    cd02516
    Location:45 → 271
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
    pfam18706
    Location:281 → 414
    ISPD_C; D-ribitol-5-phosphate cytidylyltransferase C-terminal domain

  4. XM_011243909.4 → XP_011242211.1  D-ribitol-5-phosphate cytidylyltransferase isoform X4

    Conserved Domains (2) summary
    cd02516
    Location:45 → 271
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
    pfam18706
    Location:281 → 413
    ISPD_C; D-ribitol-5-phosphate cytidylyltransferase C-terminal domain

  5. XM_036157651.1 → XP_036013544.1  D-ribitol-5-phosphate cytidylyltransferase isoform X3

    Conserved Domains (2) summary
    cd02516
    Location:45 → 271
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
    pfam18706
    Location:281 → 422
    ISPD_C; D-ribitol-5-phosphate cytidylyltransferase C-terminal domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5RJG7.1 GenPept UniProtKB/Swiss-Prot:Q5RJG7

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