GPSM1 Gene: G-Protein Signaling Modulator 1
A key regulator of G-protein signaling, implicated in cell division and cancer.
Gene Information Card
| Symbol | GPSM1 |
|---|---|
| Full Name | G-protein signaling modulator 1 |
| Gene Type | protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 26086 ncbi.nlm.nih.gov/gene/26086 |
| Ensembl ID | ENSG00000136816 |
| UniProt ID | Q86YR5 |
| OMIM ID | 609860 |
| HGNC ID | 17858 |
| Aliases | AGS3, DKFZp586B2022 |
Description
GPSM1 (G-protein signaling modulator 1) encodes a protein that belongs to the AGS (activator of G-protein signaling) family. It functions as a guanine nucleotide dissociation inhibitor (GDI) for G-alpha subunits, particularly G-alpha-i, regulating G-protein signaling pathways. GPSM1 is involved in asymmetric cell division, cell polarity, and neuronal development. It has been implicated in various cancers, where its expression and mutations may affect tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may disrupt G-protein signaling, affecting cell proliferation and migration. | COSMIC, ClinVar |
| Neuroblastoma | Overexpression of GPSM1 has been observed, potentially influencing differentiation and tumor growth. | PubMed (via NCBI) |
| Hepatocellular carcinoma | Upregulation of GPSM1 may promote cell cycle progression and metastasis. | PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.8 | Medium |
| Testis | 8.9 | Low |
| Lung | 6.2 | Low |
| Liver | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| A549 | 10.1 | Lung carcinoma |
| HepG2 | 8.7 | Liver cancer |
| SH-SY5Y | 20.5 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334Trp) | Missense | 0.01% (gnomAD) | Unknown; may affect protein stability |
| c.1502A>G (p.Asn501Ser) | Missense | 0.005% | Unknown; possibly benign |
| c.2200delC (p.Leu734Trpfs*13) | Frameshift | Rare | Loss of function; may impair GDI activity |
Mutation functional classification
Loss of Function (LOF)
Frameshift and truncating mutations likely lead to loss of GDI activity, disrupting G-protein signaling.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression may act as a dominant effect.
Dominant Negative (DN)
Some missense mutations may act dominant-negatively by interfering with G-alpha binding.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • G-protein beta/gamma-subunit complex binding |
| • G-protein alpha-subunit binding | • Signal transduction |
| • Cell division | • Asymmetric cell division |
| • Cytoplasm | • Plasma membrane |
Pathways
• G-protein signaling (Gi alpha pathway)
• Asymmetric cell division
• Neurodevelopment
Protein Summary
The GPSM1 protein (also known as AGS3) is a 713-amino acid protein with multiple tetratricopeptide repeat (TPR) domains at the N-terminus and four G-protein regulatory (GPR) motifs at the C-terminus. It acts as a GDI for G-alpha-i subunits, stabilizing the inactive GDP-bound state. GPSM1 is crucial for asymmetric cell division by regulating spindle orientation and cell fate determination. It is widely expressed in the brain and testis, and its dysregulation is linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPSM1 Knockout HEK293 Cell Line | EDJ-KQ8392 | Human | 26086 | Details Get a Quote |
| GPSM1 Knockout A-549 Cell Line | EDJ-KQ34458 | Human | 26086 | Details Get a Quote |
| GPSM1 Knockout HCT 116 Cell Line | EDJ-KQ34459 | Human | 26086 | Details Get a Quote |
| GPSM1 Knockout HeLa Cell Line | EDJ-KQ34460 | Human | 26086 | Details Get a Quote |
