GNAL

Protein identityUniProt · HPA

UniProt accession

P38405

Gene

GNAL

Ensembl

ENSG00000141404

Chromosome

18

Canonical length

381 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

381 residues, UniProt reviewed canonical sequence.

>P38405|GNAL
     1  MGCLGGNSKT TEDQGVDEKE RREANKKIEK QLQKERLAYK ATHRLLLLGA GESGKSTIVK
    61  QMRILHVNGF NPEEKKQKIL DIRKNVKDAI VTIVSAMSTI IPPVPLANPE NQFRSDYIKS
   121  IAPITDFEYS QEFFDHVKKL WDDEGVKACF ERSNEYQLID CAQYFLERID SVSLVDYTPT
   181  DQDLLRCRVL TSGIFETRFQ VDKVNFHMFD VGGQRDERRK WIQCFNDVTA IIYVAACSSY
   241  NMVIREDNNT NRLRESLDLF ESIWNNRWLR TISIILFLNK QDMLAEKVLA GKSKIEDYFP
   301  EYANYTVPED ATPDAGEDPK VTRAKFFIRD LFLRISTATG DGKHYCYPHF TCAVDTENIR
   361  RVFNDCRDII QRMHLKQYEL L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GNAL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

63 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GNAL.

Disease | AllUniProt

Conditions GNAL is implicated in, by any mechanism.

• Dystonia 25 (DYT25) MIM:615073

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 288 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Dystonia 25
• Dystonic disorder
• See cases
• Limb dystonia
• Dysarthria

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.21

gnomAD pLI

1

gnomAD missense Z

3.34

DepMap mean gene effect

0.25

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adenylate cyclase-activating dopamine receptor signaling pathway
• adenylate cyclase-activating G protein-coupled receptor signaling pathway
• response to amphetamine
• response to caffeine
• sensory perception of chemical stimulus
• sensory perception of smell
• signal transduction

Molecular functions

• G protein activity
• G protein-coupled receptor binding
• G-protein beta/gamma-subunit complex binding
• GTP binding
• GTPase activity
• metal ion binding

Cellular components

• cytoplasm
• extracellular exosome
• heterotrimeric G-protein complex
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• G-protein alpha subunit, group S
• Guanine nucleotide binding protein, alpha subunit
• G protein alpha subunit, helical insertion
• P-loop containing nucleoside triphosphate hydrolase
• G-protein alpha subunit

KeywordsUniProt

• ADP-ribosylation
• Cell membrane
• Dystonia
• GTP-binding
• Hydrolase
• Lipoprotein
• Magnesium
• Membrane
• Metal-binding
• Nucleotide-binding
• Palmitate
• Phosphoprotein
• Transducer

InteractionsUniProt · HPA

Protein binding partners of GNAL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GAS2L2
• RIC8B