GINS1
GINS complex subunit 1 (Psf1 homolog)
Gene Information Card
| Symbol | GINS1 |
|---|---|
| Full Name | GINS complex subunit 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.21 |
| NCBI Gene ID | 9837 ncbi.nlm.nih.gov/gene/9837 |
| Ensembl ID | ENSG00000101003 |
| UniProt ID | Q14691 |
| OMIM ID | 610608 |
| HGNC ID | 28980 |
| Aliases | PSF1, hGINS, GINS complex component 1 |
Description
GINS1 encodes a subunit of the GINS complex, which is essential for the initiation and elongation phases of DNA replication in eukaryotic cells. The complex interacts with the MCM helicase and CDC45 to form the CMG complex, the active replicative helicase. GINS1 is critical for cell proliferation and genome stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meier-Gorlin syndrome 8 | Loss-of-function mutations impair DNA replication licensing, leading to primordial dwarfism and microcephaly. | OMIM #617063; ClinVar |
| Breast cancer | Overexpression of GINS1 correlates with poor prognosis and increased proliferation. | COSMIC; PubMed studies |
| Hepatocellular carcinoma | Upregulation promotes cell cycle progression and tumor growth. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 18.2 | Medium |
| Lymph node | 15.1 | Medium |
| Brain | 2.3 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line |
| K562 | 25.4 | Leukemia cell line |
| HEK293 | 22.7 | Embryonic kidney cell line |
| MCF7 | 19.8 | Breast cancer cell line |
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; loss of function |
| c.310C>T (p.Arg104Trp) | Missense | Rare | Impaired complex assembly; Meier-Gorlin syndrome |
| c.455_456del (p.Gln152Argfs*3) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations in GINS1 are loss-of-function, leading to reduced DNA replication efficiency and cell cycle arrest.
Gain of Function (GOF)
Not reported for GINS1.
Dominant Negative (DN)
Not reported for GINS1.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication (GO:0006260) | • nucleus (GO:0005634) |
| • MCM complex (GO:0042555) | • DNA helicase activity (GO:0003678) |
| • DNA-dependent DNA replication (GO:0006261) |
Pathways
• DNA replication (Reactome R-HSA-69306)
• Cell Cycle (Reactome R-HSA-1640170)
• Activation of the pre-replicative complex (Reactome R-HSA-68962)
Protein Summary
GINS1 (PSF1) is a 196-amino acid protein that forms part of the tetrameric GINS complex (GINS1-4). It is essential for the assembly and function of the CMG helicase, which unwinds DNA during replication. The protein localizes to the nucleus and is highly expressed in proliferating tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GINS1 Knockout HEK293 Cell Line | EDJ-KQ50912 | Human | 9837 | Details Get a Quote |
| GINS1 Knockout HeLa Cell Line | EDJ-KQ55263 | Human | 9837 | Details Get a Quote |
| GINS1 Knockout A-549 Cell Line | EDJ-KQ63743 | Human | 9837 | Details Get a Quote |
| GINS1 Knockout HCT 116 Cell Line | EDJ-KQ72201 | Human | 9837 | Details Get a Quote |
