Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8318
Gene name	Cell division cycle 45
Gene symbol	CDC45
Synonyms (NCBI Gene)	CDC45LCDC45L2MGORS7PORC-PI-1
Chromosome	22
Chromosome location	22q11.21
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

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs146559223	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs540217942	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs540900837	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs745800041	C>T	Pathogenic	Synonymous variant, non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant
rs748749078	C>T	Pathogenic	Synonymous variant, non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant
rs752023208	->TATA	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs754080445	A>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs778665661	C>T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs879255632	A>C	Likely-pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant, genic upstream transcript variant

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT037897	hsa-miR-455-3p	CLASH	23622248
MIRT054111	hsa-miR-575	Microarray	22995316
MIRT1960434	hsa-miR-4762-5p	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000076	Process	DNA replication checkpoint signaling	TAS	9660782
GO:0000727	Process	Double-strand break repair via break-induced replication	IBA
GO:0003682	Function	Chromatin binding	IBA
GO:0003688	Function	DNA replication origin binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0005515	Function	Protein binding	IPI	10518787, 15232106, 17887956, 19805216, 23910567, 25241761, 25416956, 26167883, 31515488, 32296183, 33961781, 39009827
GO:0005634	Component	Nucleus	IDA	21383955, 22474384
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9660782
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005813	Component	Centrosome	IDA
GO:0006260	Process	DNA replication	IDA	22474384
GO:0006260	Process	DNA replication	IEA
GO:0006270	Process	DNA replication initiation	IBA
GO:0006270	Process	DNA replication initiation	IEA
GO:0006270	Process	DNA replication initiation	TAS	9660782
GO:0031261	Component	DNA replication preinitiation complex	IBA
GO:0036064	Component	Ciliary basal body	IDA	29257953
GO:0071162	Component	CMG complex	IPI	22474384
GO:1902977	Process	Mitotic DNA replication preinitiation complex assembly	IBA

MIM	HGNC	e!Ensembl
603465	1739	ENSG00000093009

O75419

Protein name

Cell division control protein 45 homolog (PORC-PI-1)

Protein function

Required for initiation of chromosomal DNA replication. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built. {ECO:0000269|PubMed:32453425, E

PDB

5DGO , 6XTX , 6XTY , 7PFO , 7PLO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02724	CDC45	19 → 163	CDC45-like protein	Family
PF02724	CDC45	131 → 563	CDC45-like protein	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, highest levels are found in adult testis and thymus and in fetal liver.

Sequence

MFVSDFRKEFYEVVQSQRVLLFVASDVDALCACKILQALFQCDHVQYTLVPVSGWQELET
AFLEHKEQFHYFILINCGANVDLLDILQPDEDTIFFVCDTHRPVNVVNVYNDTQIKLLIK
QDDDLEVPAYEDIFRDEEEDEEHSGNDSDGSEPSEKRTRLEEEIVEQTMRRRQRREWEAR
RRDILFDYEQYEYHGTSSAMVMFELAWMLSKDLNDMLWWAIVGLTDQWVQDKITQMKYVT
DVGVLQRHVSRHNHRNEDEENTLSVDCTRISFEYDLRLVLYQHWSLHDSLCNTSYTAARF
KLWSVHGQKRLQEFLADMGLPLKQVKQKFQAMDISLKENLREMIEESANKFGMKDMRVQT
FSIHFGFKHKFLASDVVFATMSLMESPEKDGSGTDHFIQALDSLSRSNLDKLYHGLELAK
KQLRATQQTIASCLCTNLVISQGPFLYCSLMEGTPDVMLFSRPASLSLLSKHLLKSFVCS
TKNRRCKLLPLVMAAPLSMEHGTVTVVGIPPETDSSDRKNFFGRAFEKAAESTSSRMLHN
HFDLSVIELKAEDRSKFLDALISLLS

Sequence length

566

Interactions

View interactions

	KEGG		Reactome
	Cell cycle		Activation of ATR in response to replication stress Activation of the pre-replicative complex G1/S-Specific Transcription

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Meier-Gorlin syndrome 7	Pathogenic; Likely pathogenic	rs1933800287, rs754080445, rs879255632, rs879255633, rs146559223, rs2517554532, rs751663397, rs752023208	RCV001507095 RCV000239518 RCV000239492 RCV000239478 RCV000239581 RCV003992106 RCV000755754 RCV000850142

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs111883646	RCV005919360
Androgen resistance syndrome	Conflicting classifications of pathogenicity	rs148062883	RCV003446927
CDC45-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs9606030, rs148062883, rs759588471, rs1015221471, rs13447203, rs149459036, rs151216373, rs201892503	RCV003946250 RCV003913420 RCV003943438 RCV003961722 RCV003978290 RCV003970793 RCV003930730 RCV003958321
Microcephaly	Likely benign	rs200986651	RCV001252822
Sarcoma	Likely benign	rs373809427	RCV005926146

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32121037
Ataxia Telangiectasia	Associate	23910567
Breast Neoplasms	Associate	32932728
Carcinogenesis	Associate	33622998
Carcinoma Hepatocellular	Associate	29962817, 31011256, 32393195, 33622998, 37985379, 40255404
Chromosomal Instability	Associate	36516748
Colorectal Neoplasms	Associate	29197895
Congenital Abnormalities	Associate	9660782
Conotruncal cardiac defects	Associate	22185286
Craniosynostoses	Associate	27374770, 27884935, 31474763, 34353863
Craniosynostosis radial aplasia syndrome	Associate	31474763
DiGeorge Syndrome	Inhibit	22185286
DiGeorge Syndrome	Associate	27846841, 31474763, 34971493, 9660782
Fanconi Anemia	Associate	34404366
Genetic Diseases Inborn	Associate	34000999
Growth Disorders	Associate	34353863
Meier Gorlin syndrome	Associate	27374770, 29036220, 30595439, 34000999, 34353863
Mungan Syndrome	Associate	34000999
Nasopharyngeal Carcinoma	Associate	34664875
Neoplasms	Associate	27034707, 32932728, 36082823
Optic Nerve Hypoplasia	Associate	9660782
Parathyroid Diseases	Associate	9660782
Pathological Conditions Anatomical	Associate	31474763
Prostatic Neoplasms	Associate	32953881, 34497666
Rapadilino syndrome	Associate	34353863
Retinal Dysplasia	Associate	19116018
Squamous Cell Carcinoma of Head and Neck	Associate	33315534, 33982750
Thymic aplasia	Associate	9660782
Thyroid Neoplasms	Associate	37864896
Tongue Diseases	Associate	19116018
Uterine Cervical Dysplasia	Associate	34404366
Uterine Cervical Neoplasms	Associate	27034707, 33302814, 34404366

CDC45 (cell division cycle 45)