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    CDC40 cell division cycle 40 [ Homo sapiens (human) ]

    Gene ID: 51362, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CDC40provided by HGNC
    Official Full Name
    cell division cycle 40provided by HGNC
    Primary source
    HGNC:HGNC:17350
    See related
    Ensembl:ENSG00000168438 MIM:605585; AllianceGenome:HGNC:17350
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EHB3; PCH15; PRP17; PRPF17
    Summary
    Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 12.9), lymph node (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDC40 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (110180427..110232232)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (111358498..111410681)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (110501630..110553435)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:110437149-110437694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:110437695-110438238 Neighboring gene WASP family member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17466 Neighboring gene uncharacterized LOC105377937 Neighboring gene MPRA-validated peak6023 silencer Neighboring gene methyltransferase like 24 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:110591233-110591734 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:110644043-110644650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:110651303-110651803 Neighboring gene uncharacterized LOC102724586

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and functional analysis of hPRP17, the human homologue of the PRP17/CDC40 yeast gene involved in splicing and cell cycle control. Ben Yehuda S, et al. RNA, 1998 Oct. PMID 9769104, Free PMC Article
    2. Functional conservation of the human homolog of the yeast pre-mRNA splicing factor Prp17p. Lindsey LA, et al. J Biol Chem, 1998 Dec 4. PMID 9830021
    3. Somatic mutations of the CDC4 (FBXW7) gene in hereditary colorectal tumors. Miyaki M, et al. Oncology, 2009. PMID 19420964
    4. Human homologs of yeast prp16 and prp17 reveal conservation of the mechanism for catalytic step II of pre-mRNA splicing. Zhou Z, et al. EMBO J, 1998 Apr 1. PMID 9524131, Free PMC Article
    5. CAMK2D serves as a molecular scaffold for RNF8-MAD2 complex to induce mitotic checkpoint in glioma. Chuah YH, et al. Cell Death Differ, 2023 Aug. PMID 37468549, Free PMC Article

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HBx activates NF-kappaB to promote the expression of miR1269b, which augments CDC40 expression, contributing to malignancy in hepatocellular cancer.
      Title: HBx-induced MiR-1269b in NF-κB dependent manner upregulates cell division cycle 40 homolog (CDC40) to promote proliferation and migration in hepatoma cells.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Somatic mutations of the CDC4 (FBXW7) gene in hereditary colorectal tumors.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Pontocerebellar hypoplasia, type 15
    MedGen: C5543326 OMIM: 619302 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of cell division cycle 40 homolog (CDC40) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Clone Names

    • FLJ10564, MGC102802

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in embryonic brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of U2-type catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    pre-mRNA-processing factor 17
    Names
    EH-binding protein 3
    PRP17 homolog
    cell division cycle 40 homolog
    hPRP17
    pre-mRNA splicing factor 17

    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_015891.3 → NP_056975.1  pre-mRNA-processing factor 17

      See identical proteins and their annotated locations for NP_056975.1

      Status: REVIEWED

      Source sequence(s)
      AF038392, AK001426, AL671518, CB242479
      Consensus CDS
      CCDS5081.1
      UniProtKB/Swiss-Prot
      B2RBC5, O60508, O75471, Q5SRN0, Q9UPG1
      UniProtKB/TrEMBL
      Q53H60
      Related
      ENSP00000304370.1, ENST00000307731.2
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      110180427..110232232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418862.1 → XP_047274818.1  pre-mRNA-processing factor 17 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      111358498..111410681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355580.1 → XP_054211555.1  pre-mRNA-processing factor 17 isoform X2

      UniProtKB/Swiss-Prot
      B2RBC5, O60508, O75471, Q5SRN0, Q9UPG1

    2. XM_054355581.1 → XP_054211556.1  pre-mRNA-processing factor 17 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60508.1 GenPept UniProtKB/Swiss-Prot:O60508

    Gene LinkOut

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