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 replicat... See more...

Aliases for CDC45 Gene

Aliases for CDC45 Gene

  • Cell Division Cycle 45 2 3 5
  • Cell Division Control Protein 45 Homolog 3 4
  • Human CDC45 2 3
  • PORC-PI-1 3 4
  • CDC45L2 3 4
  • CDC45L 3 4
  • CDC45 (Cell Division Cycle 45, S.Cerevisiae, Homolog)-Like 2
  • CDC45 Cell Division Cycle 45-Like (S. Cerevisiae) 2
  • Cell Division Cycle 45 Homolog (S. Cerevisiae) 2
  • CDC45 Cell Division Cycle 45 Homolog 3
  • CDC45 Cell Division Cycle 45-Like 3
  • Cell Division Cycle 45 Homolog 3
  • Cell Division Cycle 45-Like 2 3
  • CDC45-Related Protein 3
  • MGORS7 3

External Ids for CDC45 Gene

Previous HGNC Symbols for CDC45 Gene

  • CDC45L2
  • CDC45L

Previous GeneCards Identifiers for CDC45 Gene

  • GC22P019466
  • GC22P003088

Summaries for CDC45 Gene

Entrez Gene Summary for CDC45 Gene

  • 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]

GeneCards Summary for CDC45 Gene

CDC45 (Cell Division Cycle 45) is a Protein Coding gene. Diseases associated with CDC45 include Meier-Gorlin Syndrome 7 and Meier-Gorlin Syndrome 1. Among its related pathways are E2F mediated regulation of DNA replication and Cell cycle. Gene Ontology (GO) annotations related to this gene include chromatin binding and DNA replication origin binding.

UniProtKB/Swiss-Prot Summary for CDC45 Gene

Gene Wiki entry for CDC45 Gene

Additional gene information for CDC45 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDC45 Gene

Genomics for CDC45 Gene

GeneHancer (GH) Regulatory Elements for CDC45 Gene

Promoters and enhancers for CDC45 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDC45 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDC45

Genomic Locations for CDC45 Gene

Genomic Locations for CDC45 Gene
chr22:19,479,385-19,520,612
(GRCh38/hg38)
Size:
41,228 bases
Orientation:
Plus strand
chr22:19,466,982-19,508,135
(GRCh37/hg19)
Size:
41,154 bases
Orientation:
Plus strand

Genomic View for CDC45 Gene

Genes around CDC45 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC45 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC45 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC45 Gene

Proteins for CDC45 Gene

  • Protein details for CDC45 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75419-CDC45_HUMAN
    Recommended name:
    Cell division control protein 45 homolog
    Protein Accession:
    O75419
    Secondary Accessions:
    • B4DDB4
    • B4DDU3
    • E9PDH7
    • O60856
    • Q20WK8
    • Q6UW54
    • Q9UP68

    Protein attributes for CDC45 Gene

    Size:
    566 amino acids
    Molecular mass:
    65569 Da
    Quaternary structure:
    • Associated with ORC2. Interacts with HELB (PubMed:25933514).

    Three dimensional structures from OCA and Proteopedia for CDC45 Gene

    Alternative splice isoforms for CDC45 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDC45 Gene

Post-translational modifications for CDC45 Gene

  • Ubiquitination at Lys8, Lys237, Lys337, Lys350, Lys411, and Lys528
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CDC45 Gene

Domains & Families for CDC45 Gene

Gene Families for CDC45 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CDC45 Gene

Blocks:
  • CDC45-like protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDC45 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50109, highly similar to CDC45-related protein (B4DDB4_HUMAN)
  • PORC-PI-1 (CDC45_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75419

UniProtKB/Swiss-Prot:

CDC45_HUMAN :
  • Belongs to the CDC45 family.
Family:
  • Belongs to the CDC45 family.
genes like me logo Genes that share domains with CDC45: view

Function for CDC45 Gene

Molecular function for CDC45 Gene

UniProtKB/Swiss-Prot Function:
Required for initiation of chromosomal DNA replication.

Phenotypes From GWAS Catalog for CDC45 Gene

Gene Ontology (GO) - Molecular Function for CDC45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IBA 21873635
GO:0003688 DNA replication origin binding IBA 21873635
GO:0003697 single-stranded DNA binding IBA 21873635
GO:0005515 protein binding IPI 10518787
GO:0043138 3'-5' DNA helicase activity IBA 21873635
genes like me logo Genes that share ontologies with CDC45: view
genes like me logo Genes that share phenotypes with CDC45: view

Human Phenotype Ontology for CDC45 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDC45 Gene

MGI Knock Outs for CDC45:

Animal Model Products

CRISPR Products

miRNA for CDC45 Gene

miRTarBase miRNAs that target CDC45

Clone Products

  • Addgene plasmids for CDC45

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CDC45 Gene

Localization for CDC45 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC45 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDC45 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
extracellular 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDC45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,TAS 21383955
GO:0005654 nucleoplasm TAS --
GO:0005656 nuclear pre-replicative complex IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with CDC45: view

Pathways & Interactions for CDC45 Gene

genes like me logo Genes that share pathways with CDC45: view

Pathways by source for CDC45 Gene

1 GeneGo (Thomson Reuters) pathway for CDC45 Gene
  • Cell cycle Start of DNA replication in early S phase
1 Qiagen pathway for CDC45 Gene
  • Cell Cycle Control of Chromosomal Replication
1 Cell Signaling Technology pathway for CDC45 Gene

Gene Ontology (GO) - Biological Process for CDC45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000076 DNA replication checkpoint TAS 9660782
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle TAS --
GO:0000727 double-strand break repair via break-induced replication IBA 21873635
GO:0006260 DNA replication TAS --
genes like me logo Genes that share ontologies with CDC45: view

No data available for SIGNOR curated interactions for CDC45 Gene

Drugs & Compounds for CDC45 Gene

(1) Drugs for CDC45 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CDC45: view

Transcripts for CDC45 Gene

mRNA/cDNA for CDC45 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for CDC45

Alternative Splicing Database (ASD) splice patterns (SP) for CDC45 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: -
SP2: - -
SP3:
SP4:
SP5:

ExUns: 20
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for CDC45 Gene

GeneLoc Exon Structure for
CDC45

Expression for CDC45 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDC45 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDC45 Gene

This gene is overexpressed in Testis (x14.5).

Protein differential expression in normal tissues from HIPED for CDC45 Gene

This gene is overexpressed in Testis (61.8) and Fetal ovary (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDC45 Gene



Protein tissue co-expression partners for CDC45 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDC45

SOURCE GeneReport for Unigene cluster for CDC45 Gene:

Hs.474217

mRNA Expression by UniProt/SwissProt for CDC45 Gene:

O75419-CDC45_HUMAN
Tissue specificity: Widely expressed, highest levels are found in adult testis and thymus and in fetal liver.

Evidence on tissue expression from TISSUES for CDC45 Gene

  • Lung(4.2)
  • Nervous system(4.1)
  • Muscle(4)
genes like me logo Genes that share expression patterns with CDC45: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC45 Gene

Orthologs for CDC45 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CDC45 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDC45 31 30
  • 99.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CDC45 31 30
  • 89.28 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cdc45 17 31 30
  • 88.1 (n)
rat
(Rattus norvegicus)
Mammalia Cdc45 30
  • 87.99 (n)
cow
(Bos Taurus)
Mammalia CDC45 30
  • 87.02 (n)
CDC45L 31
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CDC45 31
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDC45 31
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDC45 31 30
  • 76.74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDC45 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdc45 30
  • 74.56 (n)
Str.6579 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398081 30
zebrafish
(Danio rerio)
Actinopterygii cdc45 31 30
  • 71.97 (n)
OneToOne
wufi05h01 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011961 30
  • 51.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta CDC45L 31 30
  • 50.54 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F34D10.2 30
  • 42.95 (n)
evl-18 31
  • 28 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR071C 30
  • 44.42 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC45 33 31 30
  • 41.7 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19822g 30
  • 41.18 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CDC45 30
  • 43.8 (n)
rice
(Oryza sativa)
Liliopsida Os11g0128400 30
  • 45.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc45 30
  • 43.96 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04378 30
  • 42.9 (n)
Species where no ortholog for CDC45 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CDC45 Gene

ENSEMBL:
Gene Tree for CDC45 (if available)
TreeFam:
Gene Tree for CDC45 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC45: view image

Paralogs for CDC45 Gene

No data available for Paralogs for CDC45 Gene

Variants for CDC45 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDC45 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
596683 Uncertain Significance: not provided 19,483,891(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
619950 Pathogenic: Meier-gorlin syndrome 7 19,482,810(+) G/GTATA FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
635406 Likely Pathogenic: Meier-gorlin syndrome 7 19,507,830(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1376596361 Uncertain Significance: Meier-gorlin syndrome 7. Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] 19,516,573(+) C/Tp.Pro496Leu MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs146559223 Likely Pathogenic: Meier-gorlin syndrome 7. Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] 19,507,454(+) C/Tp.Ala298Val MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for CDC45 Gene

Structural Variations from Database of Genomic Variants (DGV) for CDC45 Gene

Variant ID Type Subtype PubMed ID
dgv4478n100 CNV loss 25217958
esv2751940 CNV gain 17911159
esv3575418 CNV gain 25503493
esv3893434 CNV gain 25118596
nsv3558 CNV insertion 18451855
nsv588216 CNV gain 21841781
nsv834127 CNV loss 17160897

Variation tolerance for CDC45 Gene

Residual Variation Intolerance Score: 21.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDC45 Gene

Human Gene Mutation Database (HGMD)
CDC45
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC45

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC45 Gene

Disorders for CDC45 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CDC45 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
meier-gorlin syndrome 7
  • mgors7
meier-gorlin syndrome 1
  • eps
genitourinary tract anomalies
digeorge syndrome
  • cayler cardiofacial syndrome
rapadilino syndrome
  • absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
- elite association - COSMIC cancer census association via MalaCards
Search CDC45 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CDC45_HUMAN
  • Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]: A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. MGORS7 inheritance is autosomal recessive. {ECO:0000269 PubMed:27374770}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CDC45

genes like me logo Genes that share disorders with CDC45: view

No data available for Genatlas for CDC45 Gene

Publications for CDC45 Gene

  1. The human homolog of Saccharomyces cerevisiae CDC45. (PMID: 9660782) Saha P … Dutta A (The Journal of biological chemistry 1998) 2 3 4 23 54
  2. Direct selection of conserved cDNAs from the DiGeorge critical region: isolation of a novel CDC45-like gene. (PMID: 9724329) McKie JM … Scambler PJ (Genome research 1998) 2 3 4 23 54
  3. Human Cdc45 is a proliferation-associated antigen. (PMID: 17608804) Pollok S … Grosse F (The FEBS journal 2007) 2 3 23 54
  4. Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. (PMID: 27374770) Fenwick AL … Bicknell LS (American journal of human genetics 2016) 3 4 54
  5. Human DNA helicase B interacts with the replication initiation protein Cdc45 and facilitates Cdc45 binding onto chromatin. (PMID: 25933514) Gerhardt J … Fanning E (Experimental cell research 2015) 3 4 54

Products for CDC45 Gene

Sources for CDC45 Gene