UniProtKB - O75419 (CDC45_HUMAN)
Protein
Cell division control protein 45 homolog
Gene
CDC45
Organism
Homo sapiens (Human)
Status
Functioni
Required for initiation of chromosomal DNA replication.
GO - Molecular functioni
- chromatin binding Source: GO_Central
- DNA replication origin binding Source: GO_Central
- single-stranded DNA binding Source: GO_Central
GO - Biological processi
- DNA replication Source: Reactome
- DNA replication checkpoint Source: ProtInc
- DNA replication initiation Source: GO_Central
- double-strand break repair via break-induced replication Source: GO_Central
- G1/S transition of mitotic cell cycle Source: Reactome
- mitotic DNA replication preinitiation complex assembly Source: GO_Central
- positive regulation of G1/S transition of mitotic cell cycle Source: GO_Central
- regulation of chromatin silencing at telomere Source: GO_Central
- regulation of transcription involved in G1/S transition of mitotic cell cycle Source: Reactome
Keywordsi
Biological process | Cell cycle, DNA replication |
Enzyme and pathway databases
PathwayCommonsi | O75419 |
Reactomei | R-HSA-176187, Activation of ATR in response to replication stress R-HSA-176974, Unwinding of DNA R-HSA-68962, Activation of the pre-replicative complex R-HSA-69205, G1/S-Specific Transcription |
Names & Taxonomyi
Protein namesi | Recommended name: Cell division control protein 45 homologAlternative name(s): PORC-PI-1 |
Gene namesi | Name:CDC45 Synonyms:CDC45L, CDC45L2 ORF Names:UNQ374/PRO710 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1739, CDC45 |
MIMi | 603465, gene |
neXtProti | NX_O75419 |
VEuPathDBi | HostDB:ENSG00000093009.9 |
Subcellular locationi
Cytoskeleton
- centrosome Source: HPA
- ciliary basal body Source: GO_Central
Nucleus
- DNA replication preinitiation complex Source: GO_Central
- nuclear pre-replicative complex Source: GO_Central
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- replication fork protection complex Source: GO_Central
Other locations
- cytoplasm Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Meier-Gorlin syndrome 7 (MGORS7)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080963 | 68 | Q → R in MGORS7; decreased protein level. 1 PublicationCorresponds to variant dbSNP:rs879255633EnsemblClinVar. | 1 | |
Natural variantiVAR_080964 | 76 | N → H in MGORS7; decreased protein level. 1 PublicationCorresponds to variant dbSNP:rs879255632EnsemblClinVar. | 1 | |
Natural variantiVAR_080965 | 155 | E → G in MGORS7; found in a compound heterozygote bearing in cis T-321 and in trans a variant affecting splicing; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs9606030Ensembl. | 1 | |
Natural variantiVAR_080966 | 157 | R → C in MGORS7; decreased protein level. 1 PublicationCorresponds to variant dbSNP:rs540217942EnsemblClinVar. | 1 | |
Natural variantiVAR_080967 | 226 | D → G in MGORS7; decreased protein level. 1 PublicationCorresponds to variant dbSNP:rs754080445Ensembl. | 1 | |
Natural variantiVAR_080968 | 264 | S → Y in MGORS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs151279621Ensembl. | 1 | |
Natural variantiVAR_080969 | 298 | A → V in MGORS7; decreased protein level. 1 PublicationCorresponds to variant dbSNP:rs146559223Ensembl. | 1 | |
Natural variantiVAR_080970 | 321 | P → T in MGORS7; found in a compound heterozygote bearing in cis G-155 and in trans a variant affecting splicing; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_080971 | 424 – 566 | Missing in MGORS7; unknown pathological significance. 1 PublicationAdd BLAST | 143 | |
Natural variantiVAR_080972 | 463 | P → L in MGORS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs751663397Ensembl. | 1 | |
Natural variantiVAR_080973 | 496 | P → L in MGORS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1376596361Ensembl. | 1 | |
Natural variantiVAR_080974 | 554 | R → W in MGORS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs778665661Ensembl. | 1 |
Keywords - Diseasei
Disease variant, DwarfismOrganism-specific databases
DisGeNETi | 8318 |
MalaCardsi | CDC45 |
MIMi | 617063, phenotype |
OpenTargetsi | ENSG00000093009 |
Orphaneti | 2554, Ear-patella-short stature syndrome |
PharmGKBi | PA371 |
Miscellaneous databases
Pharosi | O75419, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3040 |
Genetic variation databases
BioMutai | CDC45 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000192815 | 1 – 566 | Cell division control protein 45 homologAdd BLAST | 566 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 130 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 144 | PhosphoserineCombined sources | 1 | |
Modified residuei | 148 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O75419 |
jPOSTi | O75419 |
MassIVEi | O75419 |
MaxQBi | O75419 |
PeptideAtlasi | O75419 |
PRIDEi | O75419 |
ProteomicsDBi | 19667 49990 [O75419-1] 49991 [O75419-2] |
PTM databases
iPTMneti | O75419 |
MetOSitei | O75419 |
PhosphoSitePlusi | O75419 |
Expressioni
Tissue specificityi
Widely expressed, highest levels are found in adult testis and thymus and in fetal liver.
Developmental stagei
Transcript peaks at G1-S transition, but total protein remains constant throughout the cell cycle. Expressed in multiple tissues during embryogenesis, including neural crest-derived structures.
Gene expression databases
Bgeei | ENSG00000093009, Expressed in oocyte and 128 other tissues |
ExpressionAtlasi | O75419, baseline and differential |
Genevisiblei | O75419, HS |
Organism-specific databases
HPAi | ENSG00000093009, Tissue enhanced (bone marrow, lymphoid tissue, testis) |
Interactioni
Subunit structurei
Associated with ORC2.
Interacts with HELB (PubMed:25933514).
Component of the CMG helicase complex, composed of the MCM2-7 complex, the GINS complex and CDC45 (By similarity).
By similarity1 PublicationBinary interactionsi
Hide detailsO75419
Protein-protein interaction databases
BioGRIDi | 113915, 66 interactors |
ComplexPortali | CPX-4526, CMG helicase complex |
DIPi | DIP-31725N |
IntActi | O75419, 35 interactors |
MINTi | O75419 |
STRINGi | 9606.ENSP00000405726 |
Chemistry databases
BindingDBi | O75419 |
Miscellaneous databases
RNActi | O75419, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | O75419 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the CDC45 family.Curated
Phylogenomic databases
eggNOGi | KOG2475, Eukaryota |
GeneTreei | ENSGT00390000009662 |
HOGENOMi | CLU_005871_4_0_1 |
InParanoidi | O75419 |
OMAi | PWNLANV |
OrthoDBi | 1309031at2759 |
PhylomeDBi | O75419 |
TreeFami | TF101062 |
Family and domain databases
InterProi | View protein in InterPro IPR003874, CDC45 |
PANTHERi | PTHR10507, PTHR10507, 1 hit |
Pfami | View protein in Pfam PF02724, CDC45, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O75419-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MFVSDFRKEF YEVVQSQRVL LFVASDVDAL CACKILQALF QCDHVQYTLV
60 70 80 90 100
PVSGWQELET AFLEHKEQFH YFILINCGAN VDLLDILQPD EDTIFFVCDT
110 120 130 140 150
HRPVNVVNVY NDTQIKLLIK QDDDLEVPAY EDIFRDEEED EEHSGNDSDG
160 170 180 190 200
SEPSEKRTRL EEEIVEQTMR RRQRREWEAR RRDILFDYEQ YEYHGTSSAM
210 220 230 240 250
VMFELAWMLS KDLNDMLWWA IVGLTDQWVQ DKITQMKYVT DVGVLQRHVS
260 270 280 290 300
RHNHRNEDEE NTLSVDCTRI SFEYDLRLVL YQHWSLHDSL CNTSYTAARF
310 320 330 340 350
KLWSVHGQKR LQEFLADMGL PLKQVKQKFQ AMDISLKENL REMIEESANK
360 370 380 390 400
FGMKDMRVQT FSIHFGFKHK FLASDVVFAT MSLMESPEKD GSGTDHFIQA
410 420 430 440 450
LDSLSRSNLD KLYHGLELAK KQLRATQQTI ASCLCTNLVI SQGPFLYCSL
460 470 480 490 500
MEGTPDVMLF SRPASLSLLS KHLLKSFVCS TKNRRCKLLP LVMAAPLSME
510 520 530 540 550
HGTVTVVGIP PETDSSDRKN FFGRAFEKAA ESTSSRMLHN HFDLSVIELK
560
AEDRSKFLDA LISLLS
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7BZ91 | H7BZ91_HUMAN | Cell division control protein 45 ho... | CDC45 | 96 | Annotation score: | ||
A0A5F9ZH29 | A0A5F9ZH29_HUMAN | Cell division control protein 45 ho... | CDC45 | 371 | Annotation score: | ||
C9K087 | C9K087_HUMAN | Cell division control protein 45 ho... | CDC45 | 93 | Annotation score: | ||
C9J911 | C9J911_HUMAN | Cell division control protein 45 ho... | CDC45 | 73 | Annotation score: | ||
A0A5F9ZI22 | A0A5F9ZI22_HUMAN | Cell division control protein 45 ho... | CDC45 | 327 | Annotation score: | ||
A0A5K1VW85 | A0A5K1VW85_HUMAN | Cell division control protein 45 ho... | CDC45 | 398 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 100 | T → S in AAQ89330 (PubMed:12975309).Curated | 1 | |
Sequence conflicti | 115 | I → V in CAA11530 (PubMed:9724329).Curated | 1 | |
Sequence conflicti | 346 | E → Q in AAC67521 (PubMed:9755170).Curated | 1 | |
Sequence conflicti | 509 | I → F in BAG56854 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080963 | 68 | Q → R in MGORS7; decreased protein level. 1 PublicationCorresponds to variant dbSNP:rs879255633EnsemblClinVar. | 1 | |
Natural variantiVAR_080964 | 76 | N → H in MGORS7; decreased protein level. 1 PublicationCorresponds to variant dbSNP:rs879255632EnsemblClinVar. | 1 | |
Natural variantiVAR_019286 | 81 | V → I1 PublicationCorresponds to variant dbSNP:rs13447203EnsemblClinVar. | 1 | |
Natural variantiVAR_080965 | 155 | E → G in MGORS7; found in a compound heterozygote bearing in cis T-321 and in trans a variant affecting splicing; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs9606030Ensembl. | 1 | |
Natural variantiVAR_080966 | 157 | R → C in MGORS7; decreased protein level. 1 PublicationCorresponds to variant dbSNP:rs540217942EnsemblClinVar. | 1 | |
Natural variantiVAR_080967 | 226 | D → G in MGORS7; decreased protein level. 1 PublicationCorresponds to variant dbSNP:rs754080445Ensembl. | 1 | |
Natural variantiVAR_080968 | 264 | S → Y in MGORS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs151279621Ensembl. | 1 | |
Natural variantiVAR_080969 | 298 | A → V in MGORS7; decreased protein level. 1 PublicationCorresponds to variant dbSNP:rs146559223Ensembl. | 1 | |
Natural variantiVAR_080970 | 321 | P → T in MGORS7; found in a compound heterozygote bearing in cis G-155 and in trans a variant affecting splicing; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_053026 | 356 | M → R. Corresponds to variant dbSNP:rs17209274Ensembl. | 1 | |
Natural variantiVAR_019287 | 376 | V → M1 PublicationCorresponds to variant dbSNP:rs13447263Ensembl. | 1 | |
Natural variantiVAR_080971 | 424 – 566 | Missing in MGORS7; unknown pathological significance. 1 PublicationAdd BLAST | 143 | |
Natural variantiVAR_080972 | 463 | P → L in MGORS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs751663397Ensembl. | 1 | |
Natural variantiVAR_080973 | 496 | P → L in MGORS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1376596361Ensembl. | 1 | |
Natural variantiVAR_080974 | 554 | R → W in MGORS7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs778665661Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043129 | 68 – 113 | Missing in isoform 2. 1 PublicationAdd BLAST | 46 | |
Alternative sequenceiVSP_045411 | 180 | R → RSGSGSEPVAAALEKSSRLF AGPMSDRTAPRSP in isoform 3. 1 Publication | 1 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000263201; ENSP00000263201; ENSG00000093009 [O75419-1] ENST00000404724; ENSP00000384978; ENSG00000093009 [O75419-2] ENST00000437685; ENSP00000405726; ENSG00000093009 [O75419-3] |
GeneIDi | 8318 |
KEGGi | hsa:8318 |
UCSCi | uc002zpr.5, human [O75419-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF062495 mRNA Translation: AAC67521.1 AF053074 mRNA Translation: AAC27289.1 AJ223728 mRNA Translation: CAA11530.1 AF081535 mRNA Translation: AAD08998.1 AY358971 mRNA Translation: AAQ89330.1 AK293123 mRNA Translation: BAG56675.1 AK293338 mRNA Translation: BAG56854.1 BT006792 mRNA Translation: AAP35438.1 AY572790 Genomic DNA Translation: AAS66985.1 CT841513 mRNA Translation: CAJ86443.1 AC000082 Genomic DNA No translation available. AC000087 Genomic DNA No translation available. AC000088 Genomic DNA No translation available. CH471176 Genomic DNA Translation: EAX03036.1 BC006232 mRNA Translation: AAH06232.1 BC010022 mRNA Translation: AAH10022.1 |
CCDSi | CCDS13762.1 [O75419-1] CCDS54499.1 [O75419-3] CCDS54500.1 [O75419-2] |
RefSeqi | NP_001171481.1, NM_001178010.2 [O75419-3] NP_001171482.1, NM_001178011.2 [O75419-2] NP_003495.1, NM_003504.4 [O75419-1] XP_005261342.1, XM_005261285.2 XP_011528717.1, XM_011530415.1 XP_011528720.1, XM_011530418.2 [O75419-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5DGO | X-ray | 2.10 | A | 1-566 | [»] | |
6XTX | electron microscopy | 3.29 | E | 1-566 | [»] | |
6XTY | electron microscopy | 6.77 | E | 1-566 | [»] | |
SMRi | O75419 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 113915, 66 interactors |
ComplexPortali | CPX-4526, CMG helicase complex |
DIPi | DIP-31725N |
IntActi | O75419, 35 interactors |
MINTi | O75419 |
STRINGi | 9606.ENSP00000405726 |
Chemistry databases
BindingDBi | O75419 |
ChEMBLi | CHEMBL3040 |
PTM databases
iPTMneti | O75419 |
MetOSitei | O75419 |
PhosphoSitePlusi | O75419 |
Genetic variation databases
BioMutai | CDC45 |
Proteomic databases
EPDi | O75419 |
jPOSTi | O75419 |
MassIVEi | O75419 |
MaxQBi | O75419 |
PeptideAtlasi | O75419 |
PRIDEi | O75419 |
ProteomicsDBi | 19667 49990 [O75419-1] 49991 [O75419-2] |
Protocols and materials databases
Antibodypediai | 262, 348 antibodies |
DNASUi | 8318 |
Genome annotation databases
Ensembli | ENST00000263201; ENSP00000263201; ENSG00000093009 [O75419-1] ENST00000404724; ENSP00000384978; ENSG00000093009 [O75419-2] ENST00000437685; ENSP00000405726; ENSG00000093009 [O75419-3] |
GeneIDi | 8318 |
KEGGi | hsa:8318 |
UCSCi | uc002zpr.5, human [O75419-1] |
Organism-specific databases
CTDi | 8318 |
DisGeNETi | 8318 |
GeneCardsi | CDC45 |
HGNCi | HGNC:1739, CDC45 |
HPAi | ENSG00000093009, Tissue enhanced (bone marrow, lymphoid tissue, testis) |
MalaCardsi | CDC45 |
MIMi | 603465, gene 617063, phenotype |
neXtProti | NX_O75419 |
OpenTargetsi | ENSG00000093009 |
Orphaneti | 2554, Ear-patella-short stature syndrome |
PharmGKBi | PA371 |
VEuPathDBi | HostDB:ENSG00000093009.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2475, Eukaryota |
GeneTreei | ENSGT00390000009662 |
HOGENOMi | CLU_005871_4_0_1 |
InParanoidi | O75419 |
OMAi | PWNLANV |
OrthoDBi | 1309031at2759 |
PhylomeDBi | O75419 |
TreeFami | TF101062 |
Enzyme and pathway databases
PathwayCommonsi | O75419 |
Reactomei | R-HSA-176187, Activation of ATR in response to replication stress R-HSA-176974, Unwinding of DNA R-HSA-68962, Activation of the pre-replicative complex R-HSA-69205, G1/S-Specific Transcription |
Miscellaneous databases
BioGRID-ORCSi | 8318, 770 hits in 888 CRISPR screens |
ChiTaRSi | CDC45, human |
GeneWikii | CDC45-related_protein |
GenomeRNAii | 8318 |
Pharosi | O75419, Tbio |
PROi | PR:O75419 |
RNActi | O75419, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000093009, Expressed in oocyte and 128 other tissues |
ExpressionAtlasi | O75419, baseline and differential |
Genevisiblei | O75419, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003874, CDC45 |
PANTHERi | PTHR10507, PTHR10507, 1 hit |
Pfami | View protein in Pfam PF02724, CDC45, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CDC45_HUMAN | |
Accessioni | O75419Primary (citable) accession number: O75419 Secondary accession number(s): B4DDB4 Q9UP68 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | November 1, 1998 | |
Last modified: | February 10, 2021 | |
This is version 183 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families