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

    Gene ID: 8318, updated on 9-Jul-2017
    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; Vega:OTTHUMG00000150386
    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]
    Orthologs
    Location:
    22q11.21
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (19479278..19520612)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19466984..19508135)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372860 Neighboring gene chromosome 22 open reading frame 39 Neighboring gene ubiquitin recognition factor in ER associated degradation 1 Neighboring gene claudin 5 Neighboring gene long intergenic non-protein coding RNA 895

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Activation of ATR in response to replication stress, organism-specific biosystem (from REACTOME)
      Activation of ATR in response to replication stress, organism-specific biosystemGenotoxic stress caused by DNA damage or stalled replication forks can lead to genomic instability. To guard against such instability, genotoxically-stressed cells activate checkpoint factors that ha...
    • Activation of the pre-replicative complex, organism-specific biosystem (from REACTOME)
      Activation of the pre-replicative complex, organism-specific biosystemIn S. cerevisiae, two ORC subunits, Orc1 and Orc5, both bind ATP, and Orc1 in addition has ATPase activity. Both ATP binding and ATP hydrolysis appear to be essential functions in vivo. ATP binding b...
    • Cell Cycle, organism-specific biosystem (from WikiPathways)
      Cell Cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Cell cycle, organism-specific biosystem (from KEGG)
      Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle, conserved biosystem (from KEGG)
      Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • DNA Replication, organism-specific biosystem (from REACTOME)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • DNA Replication, organism-specific biosystem (from WikiPathways)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • DNA Replication Pre-Initiation, organism-specific biosystem (from REACTOME)
      DNA Replication Pre-Initiation, organism-specific biosystemAlthough, DNA replication occurs in the S phase of the cell cycle, the formation of the DNA replication pre-initiation complex begins during G1 phase.
    • DNA strand elongation, organism-specific biosystem (from REACTOME)
      DNA strand elongation, organism-specific biosystemAccurate and efficient genome duplication requires coordinated processes to replicate two template strands at eucaryotic replication forks. Knowledge of the fundamental reactions involved in replicat...
    • E2F mediated regulation of DNA replication, organism-specific biosystem (from REACTOME)
      E2F mediated regulation of DNA replication, organism-specific biosystemProgression through G1 and G1 to S-phase transition that initiates DNA synthesis involve many complexes that are regulated by RB1:E2F pathway. RB1:E2F pathway plays a key role in gene expression regu...
    • G1 to S cell cycle control, organism-specific biosystem (from WikiPathways)
      G1 to S cell cycle control, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding C...
    • G1/S Transition, organism-specific biosystem (from REACTOME)
      G1/S Transition, organism-specific biosystemCyclin E - Cdk2 complexes control the transition from G1 into S-phase. In this case, the binding of p21Cip1/Waf1 or p27kip1 is inhibitory. Important substrates for Cyclin E - Cdk2 complexes include p...
    • G1/S-Specific Transcription, organism-specific biosystem (from REACTOME)
      G1/S-Specific Transcription, organism-specific biosystemThe E2F family of transcription factors regulate the transition from the G1 to the S phase in the cell cycle. E2F activity is regulated by members of the retinoblastoma protein (pRb) family, resultin...
    • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
      G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
    • M/G1 Transition, organism-specific biosystem (from REACTOME)
      M/G1 Transition, organism-specific biosystemFinally, progression out of mitosis and division of the cell into two daughters (cytokinesis) requires the inactivation of Cyclin B - Cdc2 by ubiquitin-dependent proteolysis of Cyclin A and B, which ...
    • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
      Mitotic G1-G1/S phases, organism-specific biosystem
      Mitotic G1-G1/S phases
    • Retinoblastoma (RB) in Cancer, organism-specific biosystem (from WikiPathways)
      Retinoblastoma (RB) in Cancer, organism-specific biosystemDescribes the role of retinoblastoma (RB) gene in cancer.
    • S Phase, organism-specific biosystem (from REACTOME)
      S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continues,...
    • Synthesis of DNA, organism-specific biosystem (from REACTOME)
      Synthesis of DNA, organism-specific biosystemThe actual synthesis of DNA occurs in the S phase of the cell cycle. This includes the initiation of DNA replication, when the first nucleotide of the new strand is laid down during the synthesis of ...
    • Unwinding of DNA, organism-specific biosystem (from REACTOME)
      Unwinding of DNA, organism-specific biosystemDNA Replication is regulated accurately and precisely by various protein complexes. Many members of the MCM protein family are assembled into the pre-Replication Complexes (pre-RC) at the end of M ph...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3'-5' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA replication origin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA replication TAS
    Traceable Author Statement
    more info
     
    DNA replication checkpoint TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA replication initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    double-strand break repair via break-induced replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitotic DNA replication preinitiation complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    pre-replicative complex assembly involved in nuclear cell cycle DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of chromatin silencing at telomere IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of transcription involved in G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    DNA replication preinitiation complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    centrosome IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear pre-replicative complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    replication fork protection complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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

    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
      5001..45787
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001171481.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      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:19593
      CDC45; CDC45-like protein
    2. NM_001178011.2NP_001171482.1  cell division control protein 45 homolog isoform 3

      See identical proteins and their annotated locations for NP_001171482.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the CDS, compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC000087, AF081535, AK293123, HY016491
      Consensus CDS
      CCDS54500.1
      UniProtKB/Swiss-Prot
      O75419
      Related
      ENSP00000384978.3, OTTHUMP00000197248, ENST00000404724.7, OTTHUMT00000317904
      Conserved Domains (1) summary
      pfam02724
      Location:19515
      CDC45; CDC45-like protein
    3. NM_003504.4NP_003495.1  cell division control protein 45 homolog isoform 2

      See identical proteins and their annotated locations for NP_003495.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF081535, BC006232, HY016491
      Consensus CDS
      CCDS13762.1
      UniProtKB/Swiss-Prot
      O75419
      Related
      ENSP00000263201.1, ENST00000263201.5
      Conserved Domains (1) summary
      pfam02724
      Location:19561
      CDC45; CDC45-like protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      19479278..19520612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530417.2XP_011528719.1  cell division control protein 45 homolog isoform X4

      Conserved Domains (1) summary
      pfam02724
      Location:19516
      CDC45; CDC45-like protein
    2. XM_011530418.2XP_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:19515
      CDC45; CDC45-like protein
    3. XM_005261285.2XP_005261342.1  cell division control protein 45 homolog isoform X8

      See identical proteins and their annotated locations for XP_005261342.1

      UniProtKB/Swiss-Prot
      O75419
      Conserved Domains (1) summary
      pfam02724
      Location:19593
      CDC45; CDC45-like protein
    4. XM_005261286.3XP_005261343.1  cell division control protein 45 homolog isoform X1

      Conserved Domains (1) summary
      pfam02724
      Location:19562
      CDC45; CDC45-like protein
    5. XM_011530415.1XP_011528717.1  cell division control protein 45 homolog isoform X2

      See identical proteins and their annotated locations for XP_011528717.1

      UniProtKB/Swiss-Prot
      O75419
      Related
      ENSP00000385240.1, OTTHUMP00000197247, ENST00000407835.5, OTTHUMT00000317903
      Conserved Domains (1) summary
      pfam02724
      Location:19561
      CDC45; CDC45-like protein
    6. XM_011530416.1XP_011528718.1  cell division control protein 45 homolog isoform X3

      Conserved Domains (1) summary
      pfam02724
      Location:7550
      CDC45; CDC45-like protein
    7. XM_017028966.1XP_016884455.1  cell division control protein 45 homolog isoform X6

      Conserved Domains (1) summary
      pfam02724
      Location:4392
      CDC45; CDC45-like protein
    8. XM_017028967.1XP_016884456.1  cell division control protein 45 homolog isoform X7

    RNA

    1. XR_937930.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      19466920..19507702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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