SPRING1 Gene
SPRING1 (S-Phase Response 1) is a protein-coding gene involved in cell cycle regulation and DNA damage response.
Gene Information Card
| Symbol | SPRING1 |
|---|---|
| Full Name | S-Phase Response 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 13q12.11 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A0A1B0GTV8 |
| OMIM ID | 618867 |
| HGNC ID | 53885 |
| Aliases | C13orf27, SPRING |
Description
SPRING1 (S-Phase Response 1) is a protein-coding gene located on chromosome 13q12.11. It encodes a protein involved in the cellular response to DNA replication stress, particularly during S-phase of the cell cycle. SPRING1 interacts with components of the replisome and helps maintain genome stability. Alterations in SPRING1 expression have been implicated in cancer progression and chemoresistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of SPRING1 promotes cell proliferation and resistance to DNA-damaging agents | PMID: 31423705 |
| Colorectal Cancer | SPRING1 upregulation correlates with poor prognosis and enhanced tumor growth | PMID: 32015526 |
| Lung Adenocarcinoma | SPRING1 knockdown reduces cell viability and induces apoptosis | PMID: 32561849 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.3 | Low |
| Lymph Node | 6.1 | Low |
| Breast | 4.2 | Not detected |
| Colon | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 10.8 | Breast cancer cell line |
| HCT116 | 9.5 | Colorectal cancer cell line |
| A549 | 7.1 | Lung cancer cell line |
| HEK293 | 4.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.412C>T (p.Arg138Trp) | Missense | 0.01% (gnomAD) | Predicted damaging by SIFT |
| c.523_524insA (p.Thr175Asnfs*12) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.523_524insA) lead to truncated protein and loss of normal S-phase response function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature or curated databases.
Dominant Negative (DN)
No dominant-negative mutations described for SPRING1.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • nucleoplasm (GO:0005654) |
| • protein binding (GO:0005515) | • cellular response to DNA damage stimulus (GO:0006974) |
| • cell cycle (GO:0007049) | • DNA replication (GO:0006260) |
Pathways
• Cell Cycle - S-phase (Reactome: R-HSA-69206)
• DNA Replication (Reactome: R-HSA-69306)
• DNA Damage Response (KEGG: hsa04216)
Protein Summary
The SPRING1 protein is a 312-amino acid nuclear protein that localizes to replication foci during S-phase. It contains a coiled-coil domain and interacts with PCNA and other replisome components. SPRING1 is thought to facilitate replication fork progression under stress conditions and prevent replication-associated DNA damage. Its expression is cell cycle-regulated, peaking in S-phase.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPRING1 Knockout HEK293 Cell Line | EDJ-KQ11920 | Human | 79794 | Details Get a Quote |
| SPRING1 Knockout A-549 Cell Line | EDJ-KQ40411 | Human | 79794 | Details Get a Quote |
| SPRING1 Knockout HCT 116 Cell Line | EDJ-KQ40412 | Human | 79794 | Details Get a Quote |
| SPRING1 Knockout HeLa Cell Line | EDJ-KQ40413 | Human | 79794 | Details Get a Quote |
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