ASTE1: Asteroid Homolog 1, A DNA Repair and Apoptosis Regulator
Comprehensive genomic and functional analysis of ASTE1, a gene involved in DNA damage response and tumor suppression.
Gene Information Card
| Symbol | ASTE1 |
|---|---|
| Full Name | asteroid homolog 1 (Drosophila) |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 28990 ncbi.nlm.nih.gov/gene/28990 |
| Ensembl ID | ENSG00000163631 |
| UniProt ID | Q9Y2Z0 |
| OMIM ID | 609224 |
| HGNC ID | HGNC:19710 |
| Aliases | FLJ10618, MGC138290, dJ1181N3.1 |
Description
ASTE1 (asteroid homolog 1) is a protein-coding gene located on chromosome 3p21.31. It encodes a protein involved in DNA damage response and apoptosis. ASTE1 is thought to function as a tumor suppressor, with loss of expression or mutation linked to various cancers. The protein contains a conserved domain of unknown function (DUF) and is implicated in maintaining genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Loss of ASTE1 expression via promoter methylation or mutation contributes to tumorigenesis by impairing DNA repair and apoptosis. | NCBI Gene, COSMIC |
| Breast cancer | Somatic mutations and reduced expression of ASTE1 are associated with poor prognosis and genomic instability. | COSMIC, ClinVar |
| Colorectal cancer | ASTE1 mutations and copy number alterations are observed, potentially affecting DNA damage signaling. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Colon | 5.4 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 9.8 | Moderate expression |
| MCF7 (breast cancer) | 7.2 | Low expression |
| HCT116 (colorectal cancer) | 6.5 | Low expression |
| HEK293 (embryonic kidney) | 4.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | 0.02% in COSMIC | Loss of function; truncation of protein |
| c.487G>A (p.Gly163Arg) | Missense | 0.01% in COSMIC | Unknown; likely damaging |
| c.742_743del (p.Leu248fs) | Frameshift | 0.01% in COSMIC | Loss of function; frameshift leads to premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg109*, p.Leu248fs) result in truncated or absent protein, consistent with tumor suppressor activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations described for ASTE1.
View complete mutation data：
Gene Ontology (GO)
| • DNA damage response (GO:0006974) | • apoptotic process (GO:0006915) |
| • nucleus (GO:0005634) | • protein binding (GO:0005515) |
Pathways
• DNA damage repair (p53-dependent)
• Apoptosis signaling
Protein Summary
The ASTE1 protein (UniProt Q9Y2Z0) is a 366-amino acid nuclear protein with a conserved domain of unknown function (DUF). It is involved in DNA damage response and apoptosis, likely acting as a tumor suppressor. The protein is expressed at low levels in most tissues, with highest expression in testis. Loss of ASTE1 function through mutation or epigenetic silencing contributes to genomic instability and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASTE1 Knockout HEK293 Cell Line | EDJ-KQ8186 | Human | 28990 | Details Get a Quote |
| ASTE1 Knockout A-549 Cell Line | EDJ-KQ35341 | Human | 28990 | Details Get a Quote |
| ASTE1 Knockout HCT 116 Cell Line | EDJ-KQ35342 | Human | 28990 | Details Get a Quote |
| ASTE1 Knockout HeLa Cell Line | EDJ-KQ35343 | Human | 28990 | Details Get a Quote |
