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    Crppa CDP-L-ribitol pyrophosphorylase A [ Rattus norvegicus (Norway rat) ]

    Gene ID: 493574, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Crppaprovided by RGD
    Official Full Name
    CDP-L-ribitol pyrophosphorylase Aprovided by RGD
    Primary source
    RGD:1359368
    See related
    EnsemblRapid:ENSRNOG00000006199 AllianceGenome:RGD:1359368
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Nip; Ispd
    Summary
    Predicted to enable D-ribitol-5-phosphate cytidylyltransferase activity and protein homodimerization activity. Predicted to be involved in protein O-linked mannosylation. Predicted to act upstream of or within axon guidance and protein glycosylation. Predicted to be active in cytosol. 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, Dec 2024]
    Expression
    Biased expression in Heart (RPKM 42.2), Kidney (RPKM 35.2) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Crppa in Genome Data Viewer
    Location:
    6q16-q21
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 6 NC_086024.1 (58847550..59124309)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 6 NC_051341.1 (53120264..53397030)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 6 NC_005105.4 (55880136..56159466)

    Chromosome 6 - NC_086024.1Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA48 Neighboring gene small nucleolar RNA SNORA17 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 2, pseudogene 4 Neighboring gene heterogeneous nuclear ribonucleoprotein A1, pseudogene 2 Neighboring gene small nucleolar RNA U3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation. Riemersma M, et al. Chem Biol, 2015 Dec 17. PMID 26687144
    2. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Willer T, et al. Nat Genet, 2012 May. PMID 22522420, Free PMC Article
    3. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Roscioli T, et al. Nat Genet, 2012 May. PMID 22522421, Free PMC Article
    4. Dystroglycan organizes axon guidance cue localization and axonal pathfinding. Wright KM, et al. Neuron, 2012 Dec 6. PMID 23217742, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    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 IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within axon guidance ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    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
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within protein glycosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    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_001008387.1
    XP_038968597.1
    XP_038968598.1
    XP_063118333.1

    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_001008386.1 → NP_001008387.1  D-ribitol-5-phosphate cytidylyltransferase

      See identical proteins and their annotated locations for NP_001008387.1

      Status: PROVISIONAL

      Source sequence(s)
      AY769992
      UniProtKB/Swiss-Prot
      Q5S6T3, Q5S6T4
      UniProtKB/TrEMBL
      A0A8I6AE23
      Related
      ENSRNOP00000008312.4, ENSRNOT00000008312.6
      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_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086024.1 Reference GRCr8

      Range
      58847550..59124309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039112670.1 → XP_038968598.1  D-ribitol-5-phosphate cytidylyltransferase isoform X2

      Conserved Domains (2) summary
      pfam18706
      Location:182 → 348
      ISPD_C; D-ribitol-5-phosphate cytidylyltransferase C-terminal domain
      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

    2. XM_039112669.2 → XP_038968597.1  D-ribitol-5-phosphate cytidylyltransferase isoform X1

      UniProtKB/TrEMBL
      A0A0G2K627, A0A8I6AE23
      Related
      ENSRNOP00000073650.2, ENSRNOT00000078548.3
      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

    3. XM_063262263.1 → XP_063118333.1  D-ribitol-5-phosphate cytidylyltransferase isoform X3

    RNA

    1. XR_005505559.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5S6T3.1 GenPept UniProtKB/Swiss-Prot:Q5S6T3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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