SERTAD1
SERTA Domain Containing 1
Gene Information Card
| Symbol | SERTAD1 |
|---|---|
| Full Name | SERTA Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 29950 ncbi.nlm.nih.gov/gene/29950 |
| Ensembl ID | ENSG00000105679 |
| UniProt ID | Q9UJX6 |
| OMIM ID | 609904 |
| HGNC ID | 10756 |
| Aliases | TRIP-Br1, SEI-1, CDK4-binding protein p34SEI-1 |
Description
SERTAD1 (SERTA Domain Containing 1) encodes a nuclear protein that functions as a transcriptional regulator and cell cycle modulator. It interacts with CDK4 and promotes cell cycle progression by inhibiting p16INK4a-mediated growth arrest. The protein contains a SERTA domain and is involved in E2F-dependent transcription, playing roles in cellular proliferation and differentiation. Overexpression of SERTAD1 has been observed in various cancers, suggesting an oncogenic role.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression leads to increased CDK4 activity and cell cycle progression, promoting tumorigenesis. | PMID: 14559893 |
| Lung Cancer | Amplification and overexpression contribute to uncontrolled proliferation. | PMID: 15604239 |
| Ovarian Cancer | Upregulation associated with poor prognosis and enhanced cell growth. | PMID: 17297482 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.3 | Low |
| Lymph Node | 6.1 | Low |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.1 | Moderate expression |
| MCF7 | 8.5 | Moderate expression |
| A549 | 7.3 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional impact |
| c.454G>A (p.Glu152Lys) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
Amplification and overexpression are observed in cancers, suggesting gain-of-function effects.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Cell Cycle (KEGG: hsa04110)
• p53 signaling pathway (KEGG: hsa04115)
• E2F transcription factor network (Reactome: R-HSA-9006925)
Protein Summary
SERTAD1 is a 34 kDa nuclear protein that contains a SERTA domain and a CDK4-binding region. It acts as a transcriptional co-regulator, enhancing E2F-dependent transcription and promoting G1/S cell cycle transition. By binding to CDK4, it relieves p16INK4a-mediated inhibition, thereby facilitating cell proliferation. The protein is expressed in multiple tissues and is upregulated in several cancer types, where it contributes to oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERTAD1 Knockout HEK293 Cell Line | EDJ-KQ9097 | Human | 29950 | Details Get a Quote |
| SERTAD1 Knockout A-549 Cell Line | EDJ-KQ35595 | Human | 29950 | Details Get a Quote |
| SERTAD1 Knockout HCT 116 Cell Line | EDJ-KQ35596 | Human | 29950 | Details Get a Quote |
| SERTAD1 Knockout HeLa Cell Line | EDJ-KQ35597 | Human | 29950 | Details Get a Quote |