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GNAL G protein subunit alpha L [ Homo sapiens (human) ]

Gene ID: 2774, updated on 10-Oct-2019

Summary

Official Symbol
GNALprovided by HGNC
Official Full Name
G protein subunit alpha Lprovided by HGNC
Primary source
HGNC:HGNC:4388
See related
Ensembl:ENSG00000141404 MIM:139312
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DYT25
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]
Expression
Ubiquitous expression in brain (RPKM 7.2), prostate (RPKM 5.5) and 24 other tissues See more
Orthologs

Genomic context

See GNAL in Genome Data Viewer
Location:
18p11.21
Exon count:
16
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (11689015..11885685)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (11689014..11885684)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene nuclear pore complex interacting protein family member B1, pseudogene Neighboring gene microRNA 7153 Neighboring gene asparagine synthetase pseudogene 6 Neighboring gene charged multivesicular body protein 1B Neighboring gene uncharacterized LOC101927511 Neighboring gene metallophosphoesterase 1 Neighboring gene inositol monophosphatase 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dystonia 25
MedGen: C3554447 OMIM: 615073 GeneReviews: DYT-GNAL
Compare labs

NHGRI GWAS Catalog

Description
Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
NHGRI GWA Catalog

Pathways from BioSystems

  • Activation of GABAB receptors, organism-specific biosystem (from REACTOME)
    Activation of GABAB receptors, organism-specific biosystemGABA B receptors are metabotropic receptors that are functionally linked to C type G protein coupled receptors.? GABA B receptors are activated upon ligand binding. The GABA B1 subunit binds ligand a...
  • Adenylate cyclase activating pathway, organism-specific biosystem (from REACTOME)
    Adenylate cyclase activating pathway, organism-specific biosystemStimulatory G proteins activate adenylate cyclase, which drives the conversion of cAMP from ATP and in turn activates cAMP-dependent protein kinase and subsequent kinase pathways.
  • Adenylate cyclase inhibitory pathway, organism-specific biosystem (from REACTOME)
    Adenylate cyclase inhibitory pathway, organism-specific biosystemGuanine nucleotide-binding protein G(i) alpha (Gi-alpha) inhibits adenylate cyclase, thus inhibiting the production of cAMP from ATP and ultimately decreasing the activity of cAMP-dependent protein k...
  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Chagas disease (American trypanosomiasis), organism-specific biosystem (from KEGG)
    Chagas disease (American trypanosomiasis), organism-specific biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
  • Chagas disease (American trypanosomiasis), conserved biosystem (from KEGG)
    Chagas disease (American trypanosomiasis), conserved biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
  • Dopaminergic synapse, organism-specific biosystem (from KEGG)
    Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
  • Dopaminergic synapse, conserved biosystem (from KEGG)
    Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
  • G Protein Signaling Pathways, organism-specific biosystem (from WikiPathways)
    G Protein Signaling Pathways, organism-specific biosystemG proteins, short for guanine nucleotide-binding proteins, are a family of proteins involved in second messenger cascades. G proteins are so called because they function as "molecular switches". They...
  • G-protein mediated events, organism-specific biosystem (from REACTOME)
    G-protein mediated events, organism-specific biosystemWhen dissociated Galpha-GTP and Gbeta-gamma can activate or inhibit different signalling cascades and effector proteins. The precise pathways depends on the identity of the alpha and beta/gamma subty...
  • GABA B receptor activation, organism-specific biosystem (from REACTOME)
    GABA B receptor activation, organism-specific biosystemFunctional GABA B receptors are heteromers of GABA B1 and B2 subunits, complexed with G protein alpha-i, 0, beta, and gamma subunits. They function as metabotropic receptors. When GABA is bound to th...
  • GABA receptor activation, organism-specific biosystem (from REACTOME)
    GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • Inhibition of adenylate cyclase pathway, organism-specific biosystem (from REACTOME)
    Inhibition of adenylate cyclase pathway, organism-specific biosystemGABA B receptors are G protein coupled receptors that are activated by GABA binding to the B1 subunit and B2 subunit alters the activity of adenylate cyclase by interacting with the G alpha i/alpha 0...
  • LPA4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    LPA4-mediated signaling events, organism-specific biosystem
    LPA4-mediated signaling events
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
  • Olfactory Signaling Pathway, organism-specific biosystem (from REACTOME)
    Olfactory Signaling Pathway, organism-specific biosystemMammalian Olfactory Receptor (OR) genes were discoved in rats by Linda Buck and Richard Axel, who predicted that odorants would be detected by a large family of G protein-coupled receptors (GPCRs) th...
  • Olfactory transduction, organism-specific biosystem (from KEGG)
    Olfactory transduction, organism-specific biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
  • Olfactory transduction, conserved biosystem (from KEGG)
    Olfactory transduction, conserved biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
  • Opioid Signalling, organism-specific biosystem (from REACTOME)
    Opioid Signalling, organism-specific biosystemOpioids are chemical substances similar to opiates, the active substances found in opium (morphine, codeine etc.). Opioid action is mediated by the receptors for endogenous opioids; peptides such as...
  • Parkinson's disease, organism-specific biosystem (from KEGG)
    Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-protein beta/gamma-subunit complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
guanine nucleotide-binding protein G(olf) subunit alpha
Names
adenylate cyclase-stimulating G alpha protein, olfactory type
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide, olfactory type

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033866.1 RefSeqGene

    Range
    5250..201671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142339.2NP_001135811.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform 2

    See identical proteins and their annotated locations for NP_001135811.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK290054, AP001269, CB241142, DB475200, DC323877
    Consensus CDS
    CCDS11852.1
    UniProtKB/Swiss-Prot
    P38405
    UniProtKB/TrEMBL
    A8K1Y9
    Related
    ENSP00000269162.4, ENST00000269162.9
    Conserved Domains (1) summary
    cd00066
    Location:43375
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
  2. NM_001261443.1NP_001248372.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform 2

    See identical proteins and their annotated locations for NP_001248372.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. Variants 3 and 4 encode the same isoform (2), which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK313902, AP001269, CB241142
    Consensus CDS
    CCDS11852.1
    UniProtKB/Swiss-Prot
    P38405
    UniProtKB/TrEMBL
    A8K1Y9
    Related
    ENSP00000439023.1, ENST00000535121.5
    Conserved Domains (1) summary
    cd00066
    Location:43375
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
  3. NM_001261444.2NP_001248373.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform 3

    See identical proteins and their annotated locations for NP_001248373.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a large portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK316141, AP001269, CB241142
    Consensus CDS
    CCDS58614.1
    UniProtKB/Swiss-Prot
    P38405
    Related
    ENSP00000473600.1, ENST00000602628.1
    Conserved Domains (1) summary
    cd00066
    Location:1168
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
  4. NM_001369387.1NP_001356316.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform 2

    Status: REVIEWED

    Source sequence(s)
    AI024119, AP001120, AP001269, BC050021, DA151077, DC414694, L10665
    Related
    ENSP00000408489.2, ENST00000423027.7
    Conserved Domains (1) summary
    cd00066
    Location:43375
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
  5. NM_182978.4NP_892023.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform 1

    See identical proteins and their annotated locations for NP_892023.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AP001120, AP001269, BC050021, CB241142
    Consensus CDS
    CCDS11851.1
    UniProtKB/Swiss-Prot
    P38405
    Related
    ENSP00000334051.5, ENST00000334049.11
    Conserved Domains (2) summary
    cd00066
    Location:120452
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    smart00275
    Location:99455
    G_alpha; G protein alpha subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    11689015..11885685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722324.3XP_006722387.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform X2

    Conserved Domains (1) summary
    cl21455
    Location:120240
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_002071.3: Suppressed sequence

    Description
    NM_002071.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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