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    Cdc40 cell division cycle 40 [ Mus musculus (house mouse) ]

    Gene ID: 71713, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Cdc40provided by MGI
    Official Full Name
    cell division cycle 40provided by MGI
    Primary source
    MGI:MGI:1918963
    See related
    Ensembl:ENSMUSG00000038446 AllianceGenome:MGI:1918963
    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
    EHB3; PRP17; 1200003H23Rik
    Summary
    Predicted to enable mRNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to act upstream of or within RNA splicing and mRNA processing. Predicted to be located in nuclear speck. Predicted to be part of U2-type catalytic step 2 spliceosome. Is expressed in central nervous system and sensory organ. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia. Orthologous to human CDC40 (cell division cycle 40). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 9.4), placenta adult (RPKM 7.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cdc40 in Genome Data Viewer
    Location:
    10 B1; 10 22.06 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (40707617..40759139, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (40831621..40883143, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene D-aspartate oxidase Neighboring gene methyltransferase like 24 Neighboring gene STARR-seq mESC enhancer starr_26430 Neighboring gene STARR-seq mESC enhancer starr_26431 Neighboring gene STARR-seq mESC enhancer starr_26432 Neighboring gene STARR-seq mESC enhancer starr_26433 Neighboring gene STARR-seq mESC enhancer starr_26435 Neighboring gene STARR-positive B cell enhancer ABC_E2320 Neighboring gene WASP family, member 1 Neighboring gene STARR-seq mESC enhancer starr_26437 Neighboring gene STARR-seq mESC enhancer starr_26438 Neighboring gene STARR-seq mESC enhancer starr_26439 Neighboring gene predicted gene, 48057

    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. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Chai G, et al. Neuron, 2021 Jan 20. PMID 33220177, Free PMC Article
    2. Genome-wide analysis of translation reveals a critical role for deleted in azoospermia-like (Dazl) at the oocyte-to-zygote transition. Chen J, et al. Genes Dev, 2011 Apr 1. PMID 21460039, Free PMC Article
    3. A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain. McKee AE, et al. BMC Dev Biol, 2005 Jul 20. PMID 16033648, Free PMC Article
    4. High-throughput mapping of a dynamic signaling network in mammalian cells. Barrios-Rodiles M, et al. Science, 2005 Mar 11. PMID 15761153
    5. A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Hansen J, et al. Proc Natl Acad Sci U S A, 2003 Aug 19. PMID 12904583, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
      Title: Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic brain development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of U2-type catalytic step 2 spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pre-mRNA-processing factor 17
    Names
    PRP17 homolog
    cell division cycle 40 homolog

    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_027879.2 → NP_082155.1  pre-mRNA-processing factor 17

      See identical proteins and their annotated locations for NP_082155.1

      Status: VALIDATED

      Source sequence(s)
      AA163414, AK004569, BC158078, BE691319
      Consensus CDS
      CCDS48546.1
      UniProtKB/Swiss-Prot
      B2RY33, Q9DC48
      Related
      ENSMUSP00000044305.8, ENSMUST00000044166.9
      Conserved Domains (2) summary
      cd00200
      Location:281 → 579
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:292 → 330
      7WD40; WD40 repeat [structural motif]

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      40707617..40759139 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9DC48.1 GenPept UniProtKB/Swiss-Prot:Q9DC48

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
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