GNAL - G protein subunit alpha L Gene
Also Known as HG1O; DYT25
Species: Homo sapiens
About GNAL
This gene has 10 transcripts (splice variants), 233 orthologues, 15 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 7.2), prostate (RPKM 5.5) and 24 other tissues.
Summary
This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
GNAL Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001142339.3 | NP_001135811.1 | guanine nucleotide-binding protein G(olf) subunit alpha isoform 2 |
| NM_001261443.2 | NP_001248372.1 | guanine nucleotide-binding protein G(olf) subunit alpha isoform 2 |
| NM_001261444.2 | NP_001248373.1 | guanine nucleotide-binding protein G(olf) subunit alpha isoform 3 |
| NM_001369387.1 | NP_001356316.1 | guanine nucleotide-binding protein G(olf) subunit alpha isoform 2 |
| NM_182978.4 | NP_892023.1 | guanine nucleotide-binding protein G(olf) subunit alpha isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
23994616 | GOA |
GNAL Protein Structure
G-alpha: G-protein alpha subunit (17 - 370)
- 0
- 100
- 200
- 300
- 381 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
guanine nucleotide-binding protein G(olf) subunit alpha |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Dystonia 25 |
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| Dyt-Gnal |
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| Dystonia |
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| Pseudohypoparathyroidism |
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| Focal Dystonia |
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| Spasmodic Dystonia |
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| Bipolar Disorder |
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| Segmental Dystonia |
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| Dystonia 24 |
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| Dystonia 12 |
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| Focal Hand Dystonia |
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| Torsion Dystonia 2 |
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| Cervical Dystonia |
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| Torsion Dystonia 4 |
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| Multifocal Dystonia |
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| Dystonia 1, Torsion, Autosomal Dominant |
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| Hereditary Lymphedema Ii |
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| Schizophrenia |
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| Blepharospasm |
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| Oromandibular Dystonia |
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| Lymphatic Malformation 5 |
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| Dystonia 27 |
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| Hemidystonia |
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| Developmental And Epileptic Encephalopathy 17 |
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| Leukodystrophy, Hypomyelinating, 6 |
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| Major Depressive Disorder |
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| Dystonia 11, Myoclonic |
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| Mood Disorder |
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| Movement Disease |
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| Alternating Hemiplegia Of Childhood |
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| Choreatic Disease |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | GNAL | VGNC | VGNC:29452 |
| Felis catus | GNAL | VGNC | VGNC:62618 |
| Macaca mulatta | GNAL | VGNC | VGNC:104224 |
| Mus musculus | GNAL | MGD | MGI:95774 |
| Canis familiaris | GNAL | VGNC | VGNC:41304 |
| Rattus norvegicus | GNAL | RGD | RGD:2715 |
| Others | GNAL | NCBI |