GNAL
G Protein Subunit Alpha L
Gene Information Card
| Symbol | GNAL |
|---|---|
| Full Name | G Protein Subunit Alpha L |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.21 |
| NCBI Gene ID | 2774 ncbi.nlm.nih.gov/gene/2774 |
| Ensembl ID | ENSG00000141404 |
| UniProt ID | P63092 |
| OMIM ID | 139312 |
| HGNC ID | 4389 |
| Aliases | GALF, GNAL1, DYT25 |
Description
GNAL encodes the alpha subunit of the stimulatory G protein (Gs), which couples olfactory and dopamine receptors to adenylyl cyclase. It is essential for odorant detection and striatal dopamine signaling. Mutations in GNAL cause DYT25 dystonia, a form of isolated dystonia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dystonia 25 (DYT25) | Loss-of-function mutations impair Gs-mediated signaling in striatal medium spiny neurons, disrupting dopamine D1 receptor signaling. | ClinVar, OMIM |
| Olfactory dysfunction | Reduced GNAL expression or activity impairs odorant receptor signaling in olfactory epithelium. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (striatum) | 12.5 | Medium |
| Olfactory bulb | 15.2 | Medium |
| Testis | 8.3 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.1 | Neuroblastoma cell line |
| HEK293 | 6.8 | Embryonic kidney cells |
| SK-N-SH | 9.5 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.682C>T (p.Arg228Cys) | Missense | Rare | Loss of function; reduced cAMP production |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
| c.1003G>A (p.Gly335Ser) | Missense | Rare | Impaired Gs activation |
Mutation functional classification
Loss of Function (LOF)
Most DYT25 mutations reduce Gs activity or protein stability, leading to impaired dopamine D1 receptor signaling.
Gain of Function (GOF)
Not reported for GNAL.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type Gs function.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor signaling pathway | • adenylate cyclase activation |
| • GTPase activity | • olfactory receptor binding |
| • striatum development |
Pathways
• Dopamine D1 receptor signaling
• Olfactory transduction
• Gs-mediated signaling
Protein Summary
GNAL encodes the alpha subunit of the stimulatory G protein (Gs). It is 394 amino acids long and contains a GTP-binding domain. The protein activates adenylyl cyclase upon receptor stimulation, producing cAMP. In the brain, it is enriched in the striatum and olfactory bulb. Mutations cause DYT25 dystonia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNAL Knockout HEK293 Cell Line | EDJ-KQ1560 | Human | 2774 | Details Get a Quote |
| GNAL Knockout A-549 Cell Line | EDJ-KQ21231 | Human | 2774 | Details Get a Quote |
| GNAL Knockout HCT 116 Cell Line | EDJ-KQ21232 | Human | 2774 | Details Get a Quote |
| GNAL Knockout HeLa Cell Line | EDJ-KQ21233 | Human | 2774 | Details Get a Quote |
