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

    Gene ID: 75847, updated on 5-Mar-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 located in cytoplasm. Predicted to be active in cytosol. Is expressed in brain. 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, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    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
    • 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 (18) 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 catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cytidylyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    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
    		  
    acts_upstream_of_or_within protein glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    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

    Gene LinkOut

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