GAS1 (Growth Arrest Specific 1)
A tumor suppressor gene involved in cell cycle arrest and growth inhibition
Gene Information Card
| Symbol | GAS1 |
|---|---|
| Full Name | Growth Arrest Specific 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q21.33 |
| NCBI Gene ID | 2619 ncbi.nlm.nih.gov/gene/2619 |
| Ensembl ID | ENSG00000180447 |
| UniProt ID | P54826 |
| OMIM ID | 139185 |
| HGNC ID | 4165 |
| Aliases | GAS-1 |
Description
GAS1 (Growth Arrest Specific 1) encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface protein that acts as a tumor suppressor by inhibiting cell cycle progression. It is highly expressed in growth-arrested cells and mediates growth suppression through interaction with the Sonic Hedgehog (SHH) signaling pathway. GAS1 functions as a co-receptor for SHH, modulating its activity and promoting cell cycle arrest.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Loss of GAS1 expression or function leads to reduced growth arrest and increased proliferation; epigenetic silencing or mutation contributes to tumorigenesis. | ClinVar, COSMIC |
| Medulloblastoma | GAS1 modulates SHH signaling; altered expression or mutation may disrupt normal cerebellar development and promote tumor formation. | NCBI Gene, OMIM |
| Colorectal cancer | Downregulation of GAS1 is associated with poor prognosis; loss of growth arrest function facilitates uncontrolled cell division. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.4 | Embryonic kidney cells; moderate expression |
| HeLa | 5.2 | Cervical cancer cells; low expression |
| A549 | 7.8 | Lung carcinoma cells; low to moderate expression |
| MCF7 | 4.1 | Breast cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Potential loss of function; rare variant |
| c.214C>T | Nonsense | <0.1% | Premature stop codon; likely loss of function |
| c.367G>A | Missense | <0.1% | Alters protein structure; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt GPI-anchor attachment lead to loss of growth arrest activity.
Gain of Function (GOF)
Not reported; GAS1 is primarily a tumor suppressor with no known activating mutations.
Dominant Negative (DN)
Not documented; no evidence of dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
| • negative regulation of cell cycle | • negative regulation of cell population proliferation |
| • cell cycle arrest | • Sonic hedgehog receptor activity |
| • GPI anchor binding | • extracellular region |
Pathways
• Sonic Hedgehog (SHH) signaling pathway
• Cell cycle regulation
Protein Summary
GAS1 is a 345-amino acid GPI-anchored cell surface protein. It contains a signal peptide for secretion and a GPI anchor signal at the C-terminus. The mature protein is attached to the plasma membrane and functions as a co-receptor for Sonic Hedgehog (SHH), modulating SHH signaling to induce cell cycle arrest. GAS1 is widely expressed in growth-arrested cells and is downregulated in many cancers, consistent with its tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GAS1 Knockout HEK293 Cell Line | EDJ-KQ895 | Human | 2619 | Details Get a Quote |
| GAS1 Knockout HeLa Cell Line | EDJ-KQ19737 | Human | 2619 | Details Get a Quote |
| GAS1 Knockout A-549 Cell Line | EDJ-KQ61790 | Human | 2619 | Details Get a Quote |
| GAS1 Knockout HCT 116 Cell Line | EDJ-KQ70271 | Human | 2619 | Details Get a Quote |
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