MCM10: A Key Replication Initiation Factor in DNA Synthesis
Comprehensive gene card, expression, mutations, and clinical relevance of MCM10
Gene Information Card
| Symbol | MCM10 |
|---|---|
| Full Name | minichromosome maintenance 10 replication initiation factor |
| Gene Type | protein-coding |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | 55388 ncbi.nlm.nih.gov/gene/55388 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | Q7L590 |
| OMIM ID | 609357 |
| HGNC ID | 18043 |
| Aliases | CNA43, DNA43, PRO2249, MCM10 |
Description
MCM10 (minichromosome maintenance 10 replication initiation factor) is a protein-coding gene essential for DNA replication initiation. It functions as a replication factor that interacts with the MCM2-7 helicase complex, facilitating origin unwinding and replication fork progression. MCM10 is conserved across eukaryotes and is critical for cell cycle progression. Alterations in MCM10 expression and mutations have been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of MCM10 promotes replication stress and genomic instability, contributing to tumorigenesis. | PMID: 25686125 |
| Colorectal cancer | MCM10 upregulation correlates with poor prognosis and increased proliferation. | PMID: 29348621 |
| Ovarian cancer | MCM10 amplification and overexpression linked to chemoresistance. | PMID: 30348657 |
| Primary microcephaly | Biallelic loss-of-function mutations in MCM10 cause impaired neurogenesis and reduced brain size. | PMID: 31006510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Bone marrow | 12.8 | High |
| Lymph node | 10.5 | Medium |
| Brain | 3.1 | Low |
| Heart | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.7 | Cervical cancer cell line; high expression |
| K562 | 14.3 | Leukemia cell line; moderate-high expression |
| MCF7 | 11.2 | Breast cancer cell line; moderate expression |
| HepG2 | 8.9 | Liver cancer cell line; moderate expression |
| A549 | 6.5 | Lung cancer cell line; low-moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | Rare | Impaired DNA binding; associated with microcephaly |
| c.1000G>A (p.Glu334Lys) | Missense | Rare | Reduced replication activity |
| c.1501_1502del (p.Glu501fs) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in MCM10 cause primary microcephaly and impaired DNA replication.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in MCM10.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg109Trp) may exert dominant-negative effects by disrupting MCM complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication initiation | • DNA helicase activity |
| • chromatin binding | • protein binding |
| • nucleus | • MCM complex |
Pathways
• DNA replication
• Cell cycle
• MCM complex assembly
Protein Summary
MCM10 is a 874-amino acid protein (UniProt Q7L590) that localizes to the nucleus and is essential for DNA replication initiation. It contains a zinc finger domain and interacts with the MCM2-7 helicase complex, facilitating origin unwinding. MCM10 is highly expressed in proliferating tissues and cancer cell lines. Its expression is cell cycle-regulated, peaking in S phase. Mutations in MCM10 are associated with primary microcephaly and cancer.
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