MCM3: Minichromosome Maintenance Complex Component 3
A key regulator of DNA replication initiation and cell cycle progression
Gene Information Card
| Symbol | MCM3 |
|---|---|
| Full Name | Minichromosome Maintenance Complex Component 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p12.2 |
| NCBI Gene ID | 4172 ncbi.nlm.nih.gov/gene/4172 |
| Ensembl ID | ENSG00000112118 |
| UniProt ID | P25205 |
| OMIM ID | 602693 |
| HGNC ID | 6948 |
| Aliases | MCM3 minichromosome maintenance deficient 3, S. cerevisiae; homolog of S. pombe cdc21; DNA replication licensing factor MCM3 |
Description
MCM3 encodes a component of the minichromosome maintenance (MCM) complex, which is essential for initiating DNA replication. The MCM complex, consisting of MCM2-7, acts as a helicase that unwinds DNA at replication origins. MCM3 is regulated by phosphorylation and interacts with other replication factors. It is widely expressed and plays a critical role in cell cycle control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meier-Gorlin syndrome | Mutations in MCM3 impair DNA replication licensing, leading to reduced cell proliferation and primordial dwarfism. | PMID: 21461991 |
| Breast cancer | Overexpression of MCM3 is associated with poor prognosis and increased proliferation. | PMID: 25642762 |
| Colorectal cancer | Elevated MCM3 expression correlates with tumor progression and metastasis. | PMID: 28925394 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 22.3 | High |
| Lymph node | 18.7 | High |
| Brain | 10.2 | Medium |
| Liver | 8.1 | Medium |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line |
| HEK293 | 27.8 | Embryonic kidney cells |
| MCF7 | 25.4 | Breast cancer cell line |
| HepG2 | 20.3 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.172C>T (p.Arg58Trp) | Missense | Rare | Loss of function; associated with Meier-Gorlin syndrome |
| c.1015G>A (p.Glu339Lys) | Missense | Rare | Unknown functional effect |
| c.1342A>G (p.Asn448Asp) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations in MCM3 that disrupt helicase activity or complex assembly lead to replication stress and reduced cell proliferation.
Gain of Function (GOF)
Not well documented; overexpression in cancers may confer a proliferative advantage.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type MCM complex function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication initiation | • DNA helicase activity |
| • chromatin binding | • nucleus |
| • MCM complex | • cell cycle |
Pathways
• Cell cycle
• DNA replication
• E2F transcription factor network
Protein Summary
MCM3 is a 808-amino acid protein that forms part of the MCM2-7 hexameric helicase complex. It contains an AAA+ ATPase domain essential for DNA unwinding. The protein is phosphorylated by CDK and DDK kinases, regulating its loading onto chromatin and activation during S phase. MCM3 also interacts with histone modifiers and transcription factors, linking replication to chromatin dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
