CDC45
Cell Division Cycle 45
Gene Information Card
| Symbol | CDC45 |
|---|---|
| Full Name | Cell Division Cycle 45 |
| Gene Type | Protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 8318 ncbi.nlm.nih.gov/gene/8318 |
| Ensembl ID | ENSG00000139726 |
| UniProt ID | O75419 |
| OMIM ID | 603465 |
| HGNC ID | 1739 |
| Aliases | CDC45L, CDC45L2, CDC45A, CDC45B, CDC45C, CDC45L1, CDC45L3, CDC45L4, CDC45L5, CDC45L6, CDC45L7, CDC45L8, CDC45L9, CDC45L10, CDC45L11, CDC45L12, CDC45L13, CDC45L14, CDC45L15, CDC45L16, CDC45L17, CDC45L18, CDC45L19, CDC45L20, CDC45L21, CDC45L22, CDC45L23, CDC45L24, CDC45L25, CDC45L26, CDC45L27, CDC45L28, CDC45L29, CDC45L30, CDC45L31, CDC45L32, CDC45L33, CDC45L34, CDC45L35, CDC45L36, CDC45L37, CDC45L38, CDC45L39, CDC45L40, CDC45L41, CDC45L42, CDC45L43, CDC45L44, CDC45L45, CDC45L46, CDC45L47, CDC45L48, CDC45L49, CDC45L50, CDC45L51, CDC45L52, CDC45L53, CDC45L54, CDC45L55, CDC45L56, CDC45L57, CDC45L58, CDC45L59, CDC45L60, CDC45L61, CDC45L62, CDC45L63, CDC45L64, CDC45L65, CDC45L66, CDC45L67, CDC45L68, CDC45L69, CDC45L70, CDC45L71, CDC45L72, CDC45L73, CDC45L74, CDC45L75, CDC45L76, CDC45L77, CDC45L78, CDC45L79, CDC45L80, CDC45L81, CDC45L82, CDC45L83, CDC45L84, CDC45L85, CDC45L86, CDC45L87, CDC45L88, CDC45L89, CDC45L90, CDC45L91, CDC45L92, CDC45L93, CDC45L94, CDC45L95, CDC45L96, CDC45L97, CDC45L98, CDC45L99, CDC45L100 |
Description
CDC45 (Cell Division Cycle 45) is a protein-coding gene located on chromosome 22q11.21. It encodes a protein essential for the initiation of DNA replication. CDC45 is a component of the CMG (Cdc45-MCM-GINS) helicase complex, which is required for the unwinding of DNA during replication. The protein interacts with the origin recognition complex (ORC) and is involved in the transition from pre-replication complex to active replication fork. Mutations in CDC45 are associated with Meier-Gorlin syndrome, a disorder characterized by microcephaly, short stature, and skeletal abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meier-Gorlin syndrome 7 | Loss-of-function mutations impair DNA replication initiation, leading to reduced cell proliferation and growth deficits. | ClinVar, OMIM |
| Primary microcephaly | CDC45 deficiency disrupts neural progenitor cell proliferation, causing reduced brain size. | OMIM |
| Short stature | Impaired replication in growth plates leads to reduced longitudinal bone growth. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Medium |
| Lymph node | 7.1 | Medium |
| Spleen | 6.5 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 11.8 | Medium expression |
| K562 | 9.4 | Medium expression |
| HepG2 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.676C>T (p.Arg226Ter) | Nonsense | Rare | Loss of function; premature termination |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of function; start codon loss |
| c.1042G>A (p.Gly348Arg) | Missense | Rare | Loss of function; impaired helicase activity |
Mutation functional classification
Loss of Function (LOF)
Most CDC45 mutations are loss-of-function, leading to reduced DNA replication efficiency and cell proliferation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication initiation | • DNA helicase activity |
| • protein binding | • nucleus |
| • cytoplasm | • CMG complex |
Pathways
• DNA replication
• Cell cycle
• CMG complex assembly
Protein Summary
The CDC45 protein (UniProt O75419) is 650 amino acids long and functions as a key component of the CMG helicase complex. It is essential for the initiation and elongation phases of DNA replication. The protein contains a conserved domain that mediates interaction with MCM proteins and GINS complex. CDC45 is regulated by cell cycle-dependent phosphorylation and is required for the activation of the replicative helicase. Its expression is highest in proliferating tissues such as testis and bone marrow.
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