O75419 · CDC45_HUMAN
- ProteinCell division control protein 45 homolog
- GeneCDC45
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids566 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | centrosome | |
Cellular Component | ciliary basal body | |
Cellular Component | CMG complex | |
Cellular Component | DNA replication preinitiation complex | |
Cellular Component | nucleoplasm | |
Cellular Component | nucleus | |
Molecular Function | chromatin binding | |
Molecular Function | DNA replication origin binding | |
Molecular Function | single-stranded DNA binding | |
Biological Process | DNA replication checkpoint signaling | |
Biological Process | DNA replication initiation | |
Biological Process | DNA unwinding involved in DNA replication | |
Biological Process | double-strand break repair via break-induced replication | |
Biological Process | mitotic DNA replication preinitiation complex assembly |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCell division control protein 45 homolog
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO75419
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Associates with chromatin.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Meier-Gorlin syndrome 7 (MGORS7)
- Note
- 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 alsoMIM:617063
Natural variants in MGORS7
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_080963 | 68 | Q>R | in MGORS7; decreased protein level; dbSNP:rs879255633 | |
VAR_080964 | 76 | N>H | in MGORS7; decreased protein level; dbSNP:rs879255632 | |
VAR_080965 | 155 | E>G | in MGORS7; uncertain significance; associated in cis with T-321; dbSNP:rs9606030 | |
VAR_080966 | 157 | R>C | in MGORS7; decreased protein level; dbSNP:rs540217942 | |
VAR_080967 | 226 | D>G | in MGORS7; decreased protein level; dbSNP:rs754080445 | |
VAR_080968 | 264 | S>Y | in MGORS7; uncertain significance; dbSNP:rs151279621 | |
VAR_080969 | 298 | A>V | in MGORS7; decreased protein level; dbSNP:rs146559223 | |
VAR_080970 | 321 | P>T | in MGORS7; uncertain significance; associated in cis with G-155 | |
VAR_080971 | 424-566 | missing | in MGORS7; likely pathogenic | |
VAR_080972 | 463 | P>L | in MGORS7; likely pathogenic; dbSNP:rs751663397 | |
VAR_080973 | 496 | P>L | in MGORS7; uncertain significance; dbSNP:rs1376596361 | |
VAR_080974 | 554 | R>W | in MGORS7; uncertain significance; dbSNP:rs778665661 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_080963 | 68 | in MGORS7; decreased protein level; dbSNP:rs879255633 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_080964 | 76 | in MGORS7; decreased protein level; dbSNP:rs879255632 | |||
Sequence: N → H | ||||||
Natural variant | VAR_019286 | 81 | in dbSNP:rs13447203 | |||
Sequence: V → I | ||||||
Natural variant | VAR_080965 | 155 | in MGORS7; uncertain significance; associated in cis with T-321; dbSNP:rs9606030 | |||
Sequence: E → G | ||||||
Natural variant | VAR_080966 | 157 | in MGORS7; decreased protein level; dbSNP:rs540217942 | |||
Sequence: R → C | ||||||
Natural variant | VAR_080967 | 226 | in MGORS7; decreased protein level; dbSNP:rs754080445 | |||
Sequence: D → G | ||||||
Natural variant | VAR_080968 | 264 | in MGORS7; uncertain significance; dbSNP:rs151279621 | |||
Sequence: S → Y | ||||||
Natural variant | VAR_080969 | 298 | in MGORS7; decreased protein level; dbSNP:rs146559223 | |||
Sequence: A → V | ||||||
Natural variant | VAR_080970 | 321 | in MGORS7; uncertain significance; associated in cis with G-155 | |||
Sequence: P → T | ||||||
Natural variant | VAR_053026 | 356 | in dbSNP:rs17209274 | |||
Sequence: M → R | ||||||
Natural variant | VAR_019287 | 376 | in dbSNP:rs13447263 | |||
Sequence: V → M | ||||||
Natural variant | VAR_080971 | 424-566 | in MGORS7; likely pathogenic | |||
Sequence: Missing | ||||||
Natural variant | VAR_080972 | 463 | in MGORS7; likely pathogenic; dbSNP:rs751663397 | |||
Sequence: P → L | ||||||
Natural variant | VAR_080973 | 496 | in MGORS7; uncertain significance; dbSNP:rs1376596361 | |||
Sequence: P → L | ||||||
Natural variant | VAR_080974 | 554 | in MGORS7; uncertain significance; dbSNP:rs778665661 | |||
Sequence: R → W |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 702 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000192815 | 1-566 | UniProt | Cell division control protein 45 homolog | |||
Sequence: MFVSDFRKEFYEVVQSQRVLLFVASDVDALCACKILQALFQCDHVQYTLVPVSGWQELETAFLEHKEQFHYFILINCGANVDLLDILQPDEDTIFFVCDTHRPVNVVNVYNDTQIKLLIKQDDDLEVPAYEDIFRDEEEDEEHSGNDSDGSEPSEKRTRLEEEIVEQTMRRRQRREWEARRRDILFDYEQYEYHGTSSAMVMFELAWMLSKDLNDMLWWAIVGLTDQWVQDKITQMKYVTDVGVLQRHVSRHNHRNEDEENTLSVDCTRISFEYDLRLVLYQHWSLHDSLCNTSYTAARFKLWSVHGQKRLQEFLADMGLPLKQVKQKFQAMDISLKENLREMIEESANKFGMKDMRVQTFSIHFGFKHKFLASDVVFATMSLMESPEKDGSGTDHFIQALDSLSRSNLDKLYHGLELAKKQLRATQQTIASCLCTNLVISQGPFLYCSLMEGTPDVMLFSRPASLSLLSKHLLKSFVCSTKNRRCKLLPLVMAAPLSMEHGTVTVVGIPPETDSSDRKNFFGRAFEKAAESTSSRMLHNHFDLSVIELKAEDRSKFLDALISLLS | |||||||
Modified residue | 130 | UniProt | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue | 144 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 148 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 262 | PRIDE | Phosphothreonine | ||||
Sequence: T |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Widely expressed, highest levels are found in adult testis and thymus and in fetal liver.
Developmental stage
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
Organism-specific databases
Interaction
Subunit
Component of the CMG helicase complex, a hexameric ring of related MCM2-7 subunits stabilized by CDC45 and the tetrameric GINS complex (PubMed:32453425, PubMed:34694004, PubMed:34700328).
Associated with ORC2. Interacts with HELB (PubMed:25933514).
Associated with ORC2. Interacts with HELB (PubMed:25933514).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | O75419 | CDKN1A P38936 | 2 | EBI-374969, EBI-375077 | |
BINARY | O75419 | CEP55 Q53EZ4 | 7 | EBI-374969, EBI-747776 | |
BINARY | O75419 | CLSPN Q9HAW4 | 5 | EBI-374969, EBI-1369377 | |
BINARY | O75419 | DDIT4L Q96D03 | 3 | EBI-374969, EBI-742054 | |
BINARY | O75419 | GINS4 Q9BRT9 | 3 | EBI-374969, EBI-747500 | |
BINARY | O75419 | KPNA4 O00629 | 2 | EBI-374969, EBI-396343 | |
BINARY | O75419 | MCM2 P49736 | 2 | EBI-374969, EBI-374819 | |
BINARY | O75419 | RAB4B P61018 | 3 | EBI-374969, EBI-10218066 | |
BINARY | O75419 | RPA2 P15927 | 4 | EBI-374969, EBI-621404 | |
BINARY | O75419 | TOPBP1 Q92547 | 6 | EBI-374969, EBI-308302 | |
BINARY | O75419 | ZRANB1 Q9UGI0 | 3 | EBI-374969, EBI-527853 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 136-163 | Disordered | ||||
Sequence: DEEEDEEHSGNDSDGSEPSEKRTRLEEE | ||||||
Compositional bias | 147-163 | Basic and acidic residues | ||||
Sequence: DSDGSEPSEKRTRLEEE |
Sequence similarities
Belongs to the CDC45 family.
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
O75419-1
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.
- Name1
- Length566
- Mass (Da)65,569
- Last updated1998-11-01 v1
- ChecksumAE1BE2C8C8E5F867
O75419-2
- Name2
- Differences from canonical
- 68-113: Missing
O75419-3
- Name3
- Differences from canonical
- 180-180: R → RSGSGSEPVAAALEKSSRLFAGPMSDRTAPRSP
Computationally mapped potential isoform sequences
There are 6 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
C9J911 | C9J911_HUMAN | CDC45 | 73 | ||
C9K087 | C9K087_HUMAN | CDC45 | 93 | ||
A0A5F9ZH29 | A0A5F9ZH29_HUMAN | CDC45 | 371 | ||
A0A5F9ZI22 | A0A5F9ZI22_HUMAN | CDC45 | 327 | ||
A0A5K1VW85 | A0A5K1VW85_HUMAN | CDC45 | 398 | ||
H7BZ91 | H7BZ91_HUMAN | CDC45 | 96 |
Features
Showing features for alternative sequence, sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_043129 | 68-113 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 100 | in Ref. 5; AAQ89330 | ||||
Sequence: T → S | ||||||
Sequence conflict | 115 | in Ref. 3; CAA11530 | ||||
Sequence: I → V | ||||||
Compositional bias | 147-163 | Basic and acidic residues | ||||
Sequence: DSDGSEPSEKRTRLEEE | ||||||
Alternative sequence | VSP_045411 | 180 | in isoform 3 | |||
Sequence: R → RSGSGSEPVAAALEKSSRLFAGPMSDRTAPRSP | ||||||
Sequence conflict | 346 | in Ref. 1; AAC67521 | ||||
Sequence: E → Q | ||||||
Sequence conflict | 509 | in Ref. 6; BAG56854 | ||||
Sequence: I → F |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF062495 EMBL· GenBank· DDBJ | AAC67521.1 EMBL· GenBank· DDBJ | mRNA | ||
AF053074 EMBL· GenBank· DDBJ | AAC27289.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ223728 EMBL· GenBank· DDBJ | CAA11530.1 EMBL· GenBank· DDBJ | mRNA | ||
AF081535 EMBL· GenBank· DDBJ | AAD08998.1 EMBL· GenBank· DDBJ | mRNA | ||
AY358971 EMBL· GenBank· DDBJ | AAQ89330.1 EMBL· GenBank· DDBJ | mRNA | ||
AK293123 EMBL· GenBank· DDBJ | BAG56675.1 EMBL· GenBank· DDBJ | mRNA | ||
AK293338 EMBL· GenBank· DDBJ | BAG56854.1 EMBL· GenBank· DDBJ | mRNA | ||
BT006792 EMBL· GenBank· DDBJ | AAP35438.1 EMBL· GenBank· DDBJ | mRNA | ||
AY572790 EMBL· GenBank· DDBJ | AAS66985.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CT841513 EMBL· GenBank· DDBJ | CAJ86443.1 EMBL· GenBank· DDBJ | mRNA | ||
AC000082 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC000087 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC000088 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471176 EMBL· GenBank· DDBJ | EAX03036.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC006232 EMBL· GenBank· DDBJ | AAH06232.1 EMBL· GenBank· DDBJ | mRNA | ||
BC010022 EMBL· GenBank· DDBJ | AAH10022.1 EMBL· GenBank· DDBJ | mRNA |