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    crppa CDP-L-ribitol pyrophosphorylase A [ Danio rerio (zebrafish) ]

    Gene ID: 798716, updated on 9-Dec-2024

    Summary

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    Official Symbol
    crppaprovided by ZNC
    Official Full Name
    CDP-L-ribitol pyrophosphorylase Aprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-061110-16
    See related
    Ensembl:ENSDARG00000005034 AllianceGenome:ZFIN:ZDB-GENE-061110-16
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    ispd; sb:eu371; zgc:154151
    Summary
    Predicted to enable D-ribitol-5-phosphate cytidylyltransferase activity and protein homodimerization activity. Involved in protein O-linked mannosylation. Acts upstream of or within brain morphogenesis; muscle cell development; and regulation of protein glycosylation. Predicted to be located in cytoplasm. Predicted to be active in 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). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See crppa in Genome Data Viewer
    Location:
    chromosome: 15
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 15 NC_007126.7 (34495056..34568705, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 15 NC_007126.6 (34637087..34710736, complement)

    Chromosome 15 - NC_007126.7Genomic Context describing neighboring genes Neighboring gene alkylglycerol monooxygenase Neighboring gene mesenchyme homeobox 2a Neighboring gene sclerostin domain containing 1a Neighboring gene leucine rich repeat containing 72 Neighboring gene ankyrin repeat and MYND domain containing 2a Neighboring gene tetraspanin 13a

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. 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
    2. Candidate risk genes for bipolar disorder are highly conserved during evolution and highly interconnected. Franklin C, et al. Bipolar Disord, 2021 Jun. PMID 32959503
    3. A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. Serafini PR, et al. JCI Insight, 2018 Sep 20. PMID 30232282, Free PMC Article
    4. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Clone Names

    • MGC154151

    Gene Ontology Provided by ZFIN

    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cytidylyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within brain morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within isoprenoid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked mannosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of protein glycosylation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of 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 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_001071270.1
    XP_005157821.1

    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_001077802.1 → NP_001071270.1  D-ribitol-5-phosphate cytidylyltransferase

      See identical proteins and their annotated locations for NP_001071270.1

      Status: PROVISIONAL

      Source sequence(s)
      BC127405
      UniProtKB/Swiss-Prot
      A0JPF9, E9QIE3, F1R603
      Related
      ENSDARP00000025837.5, ENSDART00000003192.7
      Conserved Domains (1) summary
      cd02516
      Location:69 → 294
      CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007126.7 Reference GRCz11 Primary Assembly

      Range
      34495056..34568705 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005157764.5 → XP_005157821.1  D-ribitol-5-phosphate cytidylyltransferase isoform X1

      UniProtKB/Swiss-Prot
      A0JPF9, E9QIE3, F1R603
      Related
      ENSDARP00000118574.1, ENSDART00000140882.2
      Conserved Domains (1) summary
      cd02516
      Location:55 → 280
      CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0JPF9.2 GenPept UniProtKB/Swiss-Prot:A0JPF9

    Gene LinkOut

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