PRIM1: DNA Primase Subunit 1
Essential component of the primase complex involved in DNA replication initiation
Gene Information Card
| Symbol | PRIM1 |
|---|---|
| Full Name | DNA primase subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 5557 ncbi.nlm.nih.gov/gene/5557 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | P49642 |
| OMIM ID | 176635 |
| HGNC ID | 9349 |
| Aliases | p49, primase p49 subunit |
Description
PRIM1 encodes the 49 kDa catalytic subunit of DNA primase, which is part of the DNA polymerase alpha-primase complex. This enzyme synthesizes short RNA primers on single-stranded DNA templates, initiating DNA replication. PRIM1 is essential for lagging strand synthesis and Okazaki fragment formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primordial dwarfism with microcephaly | Biallelic loss-of-function mutations impair primase activity, reducing DNA replication efficiency and cell proliferation | PMID: 32621752 |
| Ovarian cancer | Overexpression and amplification of PRIM1 contribute to enhanced DNA replication and tumor growth | COSMIC v99 |
| Breast cancer | PRIM1 upregulation associated with poor prognosis and increased proliferation | PMID: 28783722 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 18.2 | Medium |
| Lymph node | 15.1 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line |
| K562 | 25.4 | Leukemia cell line |
| A549 | 20.7 | Lung cancer cell line |
| MCF7 | 18.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.640C>T (p.Arg214Trp) | Missense | Rare | Loss of primase activity; associated with primordial dwarfism |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein function; primordial dwarfism |
| c.1129G>A (p.Gly377Ser) | Missense | Rare | Reduced enzyme activity; microcephaly |
Mutation functional classification
Loss of Function (LOF)
Biallelic missense or truncating mutations impair primase catalytic activity, leading to replication stress and reduced cell proliferation.
Gain of Function (GOF)
Not reported in PRIM1.
Dominant Negative (DN)
Not reported in PRIM1.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication initiation | • DNA primase activity |
| • RNA primer synthesis | • DNA-directed RNA polymerase activity |
| • nucleus | • alpha DNA polymerase:primase complex |
Pathways
• DNA replication (Reactome R-HSA-69306)
• Cell cycle (Reactome R-HSA-1640170)
• Telomere maintenance (Reactome R-HSA-157579)
Protein Summary
PRIM1 encodes the catalytic subunit of DNA primase, a 49 kDa protein that synthesizes short RNA primers essential for DNA replication. It forms a heterodimer with PRIM2 (p58) and associates with DNA polymerase alpha. The protein contains a conserved primase domain and is localized to the nucleus. PRIM1 activity is critical for lagging strand synthesis and genome stability.
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