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    CDC45 cell division cycle 45 [ Homo sapiens (human) ]

    Gene ID: 8318, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CDC45provided by HGNC
    Official Full Name
    cell division cycle 45provided by HGNC
    Primary source
    HGNC:HGNC:1739
    See related
    Ensembl:ENSG00000093009 MIM:603465; AllianceGenome:HGNC:1739
    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
    CDC45L; MGORS7; CDC45L2; PORC-PI-1
    Summary
    The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Biased expression in testis (RPKM 11.5), bone marrow (RPKM 6.8) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDC45 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19479466..19520612)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19856299..19897453)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19466989..19508135)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:19434430-19435332 Neighboring gene chromosome 22 open reading frame 39 Neighboring gene UFD1 antisense RNA 1 Neighboring gene ubiquitin recognition factor in ER associated degradation 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13463 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19486137-19486353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19493394-19493894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19493895-19494395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19502006-19502506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19502507-19503007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19509616-19510548 Neighboring gene claudin 5 Neighboring gene MPRA-validated peak4453 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19531837-19532336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19542168-19542870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19542871-19543573 Neighboring gene long intergenic non-protein coding RNA 895

    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
    • 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. DNA binding properties of human Cdc45 suggest a function as molecular wedge for DNA unwinding. Szambowska A, et al. Nucleic Acids Res, 2014 Feb. PMID 24293646, Free PMC Article
    2. Cdc45-induced loading of human RPA onto single-stranded DNA. Szambowska A, et al. Nucleic Acids Res, 2017 Apr 7. PMID 28100698, Free PMC Article
    3. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition. Unolt M, et al. Genet Med, 2020 Feb. PMID 31474763, Free PMC Article
    4. Protein phosphatase 2A controls ongoing DNA replication by binding to and regulating cell division cycle 45 (CDC45). Perl AL, et al. J Biol Chem, 2019 Nov 8. PMID 31562245, Free PMC Article
    5. Analysis of functional hub genes identifies CDC45 as an oncogene in non-small cell lung cancer - a short report. Huang J, et al. Cell Oncol (Dordr), 2019 Aug. PMID 30887286

    See all (129) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A second hotspot for pathogenic exon-skipping variants in CDC45.
      Title: A second hotspot for pathogenic exon-skipping variants in CDC45.
    2. Validation of CDC45 as a novel biomarker for diagnosis and prognosis of gastric cancer.
      Title: Validation of CDC45 as a novel biomarker for diagnosis and prognosis of gastric cancer.
    3. IGF2BP2 promotes glycolysis and hepatocellular carcinoma stemness by stabilizing CDC45 mRNA via m6A modification.
      Title: IGF2BP2 promotes glycolysis and hepatocellular carcinoma stemness by stabilizing CDC45 mRNA via m6A modification.
    4. Systematic pancancer analysis identifies CDC45 as having an oncogenic role in human cancers.
      Title: Systematic pan‑cancer analysis identifies CDC45 as having an oncogenic role in human cancers.
    5. Knockdown of circular RNA hsa_circ_0062270 suppresses the progression of melanoma via downregulation of CDC45.
      Title: Knockdown of circular RNA hsa_circ_0062270 suppresses the progression of melanoma via downregulation of CDC45.
    6. CircCDC45 promotes the malignant progression of glioblastoma by modulating the miR-485-5p/CSF-1 axis.
      Title: CircCDC45 promotes the malignant progression of glioblastoma by modulating the miR-485-5p/CSF-1 axis.
    7. A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.
      Title: A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.
    8. Expression of Cell Division Cycle Protein 45 in Tissue Microarrays and the CDC45 Gene by Bioinformatics Analysis in Human Hepatocellular Carcinoma and Patient Outcomes.
      Title: Expression of Cell Division Cycle Protein 45 in Tissue Microarrays and the CDC45 Gene by Bioinformatics Analysis in Human Hepatocellular Carcinoma and Patient Outcomes.
    9. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
      Title: Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
    10. Protein phosphatase 2A controls ongoing DNA replication by binding to and regulating cell division cycle 45
      Title: Protein phosphatase 2A controls ongoing DNA replication by binding to and regulating cell division cycle 45 (CDC45).
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    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
    Meier-Gorlin syndrome 7
    MedGen: C4310738 OMIM: 617063 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 GOA

    Function Evidence Code Pubs
    enables DNA replication origin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA replication checkpoint signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA replication initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA unwinding involved in DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in double-strand break repair via break-induced replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic DNA replication preinitiation complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of CMG complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of DNA replication preinitiation complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in ciliary basal body 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
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cell division control protein 45 homolog
    Names
    CDC45 cell division cycle 45 homolog
    CDC45 cell division cycle 45-like
    CDC45-related protein
    cell division cycle 45 homolog
    cell division cycle 45-like 2
    human CDC45

    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.

    Genomic

    1. NG_052958.1 RefSeqGene

      Range
      5095..45783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178010.2 → NP_001171481.1  cell division control protein 45 homolog isoform 1

      See identical proteins and their annotated locations for NP_001171481.1

      Status: REVIEWED

      Source sequence(s)
      AC000088, AF081535, AK293338, HY016491
      Consensus CDS
      CCDS54499.1
      UniProtKB/Swiss-Prot
      O75419
      Related
      ENSP00000405726.2, ENST00000437685.6
      Conserved Domains (1) summary
      pfam02724
      Location:19 → 593
      CDC45; CDC45-like protein

    2. NM_001178011.2 → NP_001171482.1  cell division control protein 45 homolog isoform 3

      See identical proteins and their annotated locations for NP_001171482.1

      Status: REVIEWED

      Source sequence(s)
      AC000087, AF081535, AK293123, HY016491
      Consensus CDS
      CCDS54500.1
      UniProtKB/Swiss-Prot
      O75419
      Related
      ENSP00000384978.3, ENST00000404724.7
      Conserved Domains (1) summary
      pfam02724
      Location:19 → 515
      CDC45; CDC45-like protein

    3. NM_001369291.1 → NP_001356220.1  cell division control protein 45 homolog isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC000082, AC000087, AC000088
      Conserved Domains (1) summary
      pfam02724
      Location:7 → 549
      CDC45; CDC45-like protein

    4. NM_003504.5 → NP_003495.1  cell division control protein 45 homolog isoform 2

      See identical proteins and their annotated locations for NP_003495.1

      Status: REVIEWED

      Source sequence(s)
      AC000082, AC000087, AC000088
      Consensus CDS
      CCDS13762.1
      UniProtKB/Swiss-Prot
      B4DDB4, B4DDU3, E9PDH7, O60856, O75419, Q20WK8, Q6UW54, Q9UP68
      Related
      ENSP00000263201.2, ENST00000263201.7
      Conserved Domains (1) summary
      pfam02724
      Location:19 → 561
      CDC45; CDC45-like protein

    RNA

    1. NR_161281.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC000082, AC000087, AC000088
      Related
      ENST00000438587.6

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      19479466..19520612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441534.1 → XP_047297490.1  cell division control protein 45 homolog isoform X8

    2. XM_047441531.1 → XP_047297487.1  cell division control protein 45 homolog isoform X1

    3. XM_047441532.1 → XP_047297488.1  cell division control protein 45 homolog isoform X2

      UniProtKB/Swiss-Prot
      B4DDB4, B4DDU3, E9PDH7, O60856, O75419, Q20WK8, Q6UW54, Q9UP68

    4. XM_011530417.4 → XP_011528719.1  cell division control protein 45 homolog isoform X4

      Conserved Domains (1) summary
      pfam02724
      Location:19 → 516
      CDC45; CDC45-like protein

    5. XM_011530418.4 → XP_011528720.1  cell division control protein 45 homolog isoform X5

      See identical proteins and their annotated locations for XP_011528720.1

      UniProtKB/Swiss-Prot
      O75419
      Conserved Domains (1) summary
      pfam02724
      Location:19 → 515
      CDC45; CDC45-like protein

    6. XM_011530416.2 → XP_011528718.1  cell division control protein 45 homolog isoform X3

      Conserved Domains (1) summary
      pfam02724
      Location:7 → 550
      CDC45; CDC45-like protein

    7. XM_047441533.1 → XP_047297489.1  cell division control protein 45 homolog isoform X6

      Related
      ENSP00000499976.1, ENST00000672837.1

    8. XM_017028966.2 → XP_016884455.1  cell division control protein 45 homolog isoform X7

      UniProtKB/TrEMBL
      A0A5K1VW85
      Related
      ENSP00000385240.2, ENST00000407835.6
      Conserved Domains (1) summary
      pfam02724
      Location:4 → 392
      CDC45; CDC45-like protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      19856299..19897453
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325997.1 → XP_054181972.1  cell division control protein 45 homolog isoform X8

    2. XM_054325990.1 → XP_054181965.1  cell division control protein 45 homolog isoform X1

    3. XM_054325991.1 → XP_054181966.1  cell division control protein 45 homolog isoform X2

      UniProtKB/Swiss-Prot
      B4DDB4, B4DDU3, E9PDH7, O60856, O75419, Q20WK8, Q6UW54, Q9UP68

    4. XM_054325993.1 → XP_054181968.1  cell division control protein 45 homolog isoform X4

    5. XM_054325994.1 → XP_054181969.1  cell division control protein 45 homolog isoform X5

    6. XM_054325992.1 → XP_054181967.1  cell division control protein 45 homolog isoform X3

    7. XM_054325995.1 → XP_054181970.1  cell division control protein 45 homolog isoform X6

    8. XM_054325996.1 → XP_054181971.1  cell division control protein 45 homolog isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75419.1 GenPept UniProtKB/Swiss-Prot:O75419

    Gene LinkOut

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

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