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Protein

Cell division control protein 45 homolog

Gene

CDC45

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for initiation of chromosomal DNA replication.

GO - Molecular functioni

  • 3'-5' DNA helicase activity Source: GO_Central
  • chromatin binding Source: GO_Central
  • DNA replication origin binding Source: GO_Central
  • single-stranded DNA binding Source: GO_Central

GO - Biological processi

Keywordsi

Biological processCell cycle, DNA replication

Enzyme and pathway databases

ReactomeiR-HSA-176187 Activation of ATR in response to replication stress
R-HSA-176974 Unwinding of DNA
R-HSA-539107 Activation of E2F1 target genes at G1/S
R-HSA-68962 Activation of the pre-replicative complex

Names & Taxonomyi

Protein namesi
Recommended name:
Cell division control protein 45 homolog
Alternative name(s):
PORC-PI-1
Gene namesi
Name:CDC45
Synonyms:CDC45L, CDC45L2
ORF Names:UNQ374/PRO710
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000093009.9
HGNCiHGNC:1739 CDC45
MIMi603465 gene
neXtProtiNX_O75419

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Meier-Gorlin syndrome 7 (MGORS7)1 Publication
The disease is caused by mutations 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.
See also OMIM:617063
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08096368Q → R in MGORS7; decreased protein level. 1 Publication1
Natural variantiVAR_08096476N → H in MGORS7; decreased protein level. 1 Publication1
Natural variantiVAR_080965155E → G in MGORS7; found in a compound heterozygote bearing in cis T-321 and in trans a variant affecting splicing; unknown pathological significance. 1 Publication1
Natural variantiVAR_080966157R → C in MGORS7; decreased protein level. 1 Publication1
Natural variantiVAR_080967226D → G in MGORS7; decreased protein level. 1 Publication1
Natural variantiVAR_080968264S → Y in MGORS7; unknown pathological significance. 1 Publication1
Natural variantiVAR_080969298A → V in MGORS7; decreased protein level. 1 Publication1
Natural variantiVAR_080970321P → T in MGORS7; found in a compound heterozygote bearing in cis G-155 and in trans a variant affecting splicing; unknown pathological significance. 1 Publication1
Natural variantiVAR_080971424 – 566Missing in MGORS7; unknown pathological significance. 1 PublicationAdd BLAST143
Natural variantiVAR_080972463P → L in MGORS7; unknown pathological significance. 1 Publication1
Natural variantiVAR_080973496P → L in MGORS7; unknown pathological significance. 1 Publication1
Natural variantiVAR_080974554R → W in MGORS7; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi8318
MalaCardsiCDC45
MIMi617063 phenotype
OpenTargetsiENSG00000093009
Orphaneti2554 Ear-patella-short stature syndrome
PharmGKBiPA371

Chemistry databases

ChEMBLiCHEMBL3040

Polymorphism and mutation databases

BioMutaiCDC45

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001928151 – 566Cell division control protein 45 homologAdd BLAST566

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei130PhosphotyrosineCombined sources1
Modified residuei144PhosphoserineCombined sources1
Modified residuei148PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO75419
MaxQBiO75419
PeptideAtlasiO75419
PRIDEiO75419
ProteomicsDBi49990
49991 [O75419-2]

PTM databases

iPTMnetiO75419
PhosphoSitePlusiO75419

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

BgeeiENSG00000093009 Expressed in 105 organ(s), highest expression level in oocyte
CleanExiHS_CDC45L
ExpressionAtlasiO75419 baseline and differential
GenevisibleiO75419 HS

Organism-specific databases

HPAiCAB009459
HPA000614

Interactioni

Subunit structurei

Associated with ORC2. Interacts with HELB (PubMed:25933514).1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi113915, 45 interactors
DIPiDIP-31725N
IntActiO75419, 32 interactors
MINTiO75419

Chemistry databases

BindingDBiO75419

Structurei

Secondary structure

1566
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO75419
SMRiO75419
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CDC45 family.Curated

Phylogenomic databases

GeneTreeiENSGT00390000009662
HOGENOMiHOG000253949
HOVERGENiHBG050819
InParanoidiO75419
KOiK06628
OMAiFICDTHR
OrthoDBiEOG091G05EU
PhylomeDBiO75419
TreeFamiTF101062

Family and domain databases

InterProiView protein in InterPro
IPR003874 CDC45
PANTHERiPTHR10507 PTHR10507, 1 hit
PfamiView protein in Pfam
PF02724 CDC45, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:566
Mass (Da):65,569
Last modified:November 1, 1998 - v1
Checksum:iAE1BE2C8C8E5F867
GO
Isoform 2 (identifier: O75419-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     68-113: Missing.

Note: No experimental confirmation available.
Show »
Length:520
Mass (Da):60,245
Checksum:iBE5CE1F95079C2E6
GO
Isoform 3 (identifier: O75419-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     180-180: R → RSGSGSEPVAAALEKSSRLFAGPMSDRTAPRSP

Note: No experimental confirmation available.
Show »
Length:598
Mass (Da):68,768
Checksum:i2625590397EB6E6B
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J911C9J911_HUMAN
Cell division control protein 45 ho...
CDC45
159Annotation score:
C9K087C9K087_HUMAN
Cell division control protein 45 ho...
CDC45
112Annotation score:
H7BZ91H7BZ91_HUMAN
Cell division control protein 45 ho...
CDC45
96Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti100T → S in AAQ89330 (PubMed:12975309).Curated1
Sequence conflicti115I → V in CAA11530 (PubMed:9724329).Curated1
Sequence conflicti346E → Q in AAC67521 (PubMed:9755170).Curated1
Sequence conflicti509I → F in BAG56854 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08096368Q → R in MGORS7; decreased protein level. 1 Publication1
Natural variantiVAR_08096476N → H in MGORS7; decreased protein level. 1 Publication1
Natural variantiVAR_01928681V → I1 PublicationCorresponds to variant dbSNP:rs13447203Ensembl.1
Natural variantiVAR_080965155E → G in MGORS7; found in a compound heterozygote bearing in cis T-321 and in trans a variant affecting splicing; unknown pathological significance. 1 Publication1
Natural variantiVAR_080966157R → C in MGORS7; decreased protein level. 1 Publication1
Natural variantiVAR_080967226D → G in MGORS7; decreased protein level. 1 Publication1
Natural variantiVAR_080968264S → Y in MGORS7; unknown pathological significance. 1 Publication1
Natural variantiVAR_080969298A → V in MGORS7; decreased protein level. 1 Publication1
Natural variantiVAR_080970321P → T in MGORS7; found in a compound heterozygote bearing in cis G-155 and in trans a variant affecting splicing; unknown pathological significance. 1 Publication1
Natural variantiVAR_053026356M → R. Corresponds to variant dbSNP:rs17209274Ensembl.1
Natural variantiVAR_019287376V → M1 PublicationCorresponds to variant dbSNP:rs13447263Ensembl.1
Natural variantiVAR_080971424 – 566Missing in MGORS7; unknown pathological significance. 1 PublicationAdd BLAST143
Natural variantiVAR_080972463P → L in MGORS7; unknown pathological significance. 1 Publication1
Natural variantiVAR_080973496P → L in MGORS7; unknown pathological significance. 1 Publication1
Natural variantiVAR_080974554R → W in MGORS7; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04312968 – 113Missing in isoform 2. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_045411180R → RSGSGSEPVAAALEKSSRLF AGPMSDRTAPRSP in isoform 3. 1 Publication1

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
CCDSiCCDS13762.1 [O75419-1]
CCDS54499.1 [O75419-3]
CCDS54500.1 [O75419-2]
RefSeqiNP_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]
UniGeneiHs.474217
Hs.742418

Genome annotation databases

EnsembliENST00000263201; ENSP00000263201; ENSG00000093009 [O75419-1]
ENST00000404724; ENSP00000384978; ENSG00000093009 [O75419-2]
ENST00000407835; ENSP00000385240; ENSG00000093009 [O75419-1]
ENST00000437685; ENSP00000405726; ENSG00000093009 [O75419-3]
GeneIDi8318
KEGGihsa:8318
UCSCiuc002zpr.5 human [O75419-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS13762.1 [O75419-1]
CCDS54499.1 [O75419-3]
CCDS54500.1 [O75419-2]
RefSeqiNP_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]
UniGeneiHs.474217
Hs.742418

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5DGOX-ray2.10A1-566[»]
ProteinModelPortaliO75419
SMRiO75419
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113915, 45 interactors
DIPiDIP-31725N
IntActiO75419, 32 interactors
MINTiO75419

Chemistry databases

BindingDBiO75419
ChEMBLiCHEMBL3040

PTM databases

iPTMnetiO75419
PhosphoSitePlusiO75419

Polymorphism and mutation databases

BioMutaiCDC45

Proteomic databases

EPDiO75419
MaxQBiO75419
PeptideAtlasiO75419
PRIDEiO75419
ProteomicsDBi49990
49991 [O75419-2]

Protocols and materials databases

DNASUi8318
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263201; ENSP00000263201; ENSG00000093009 [O75419-1]
ENST00000404724; ENSP00000384978; ENSG00000093009 [O75419-2]
ENST00000407835; ENSP00000385240; ENSG00000093009 [O75419-1]
ENST00000437685; ENSP00000405726; ENSG00000093009 [O75419-3]
GeneIDi8318
KEGGihsa:8318
UCSCiuc002zpr.5 human [O75419-1]

Organism-specific databases

CTDi8318
DisGeNETi8318
EuPathDBiHostDB:ENSG00000093009.9
GeneCardsiCDC45
HGNCiHGNC:1739 CDC45
HPAiCAB009459
HPA000614
MalaCardsiCDC45
MIMi603465 gene
617063 phenotype
neXtProtiNX_O75419
OpenTargetsiENSG00000093009
Orphaneti2554 Ear-patella-short stature syndrome
PharmGKBiPA371
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000009662
HOGENOMiHOG000253949
HOVERGENiHBG050819
InParanoidiO75419
KOiK06628
OMAiFICDTHR
OrthoDBiEOG091G05EU
PhylomeDBiO75419
TreeFamiTF101062

Enzyme and pathway databases

ReactomeiR-HSA-176187 Activation of ATR in response to replication stress
R-HSA-176974 Unwinding of DNA
R-HSA-539107 Activation of E2F1 target genes at G1/S
R-HSA-68962 Activation of the pre-replicative complex

Miscellaneous databases

GeneWikiiCDC45-related_protein
GenomeRNAii8318
PROiPR:O75419
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000093009 Expressed in 105 organ(s), highest expression level in oocyte
CleanExiHS_CDC45L
ExpressionAtlasiO75419 baseline and differential
GenevisibleiO75419 HS

Family and domain databases

InterProiView protein in InterPro
IPR003874 CDC45
PANTHERiPTHR10507 PTHR10507, 1 hit
PfamiView protein in Pfam
PF02724 CDC45, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCDC45_HUMAN
AccessioniPrimary (citable) accession number: O75419
Secondary accession number(s): B4DDB4
, B4DDU3, E9PDH7, O60856, Q20WK8, Q6UW54, Q9UP68
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1998
Last modified: November 7, 2018
This is version 164 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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