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

Gene ID: 71713, updated on 5-Mar-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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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.

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