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

    Gene ID: 2774, updated on 7-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:4388
    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
    HG1O; 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
    mouse all
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    Genomic context

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    Location:
    18p11.21
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (11689264..11885685)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (11851607..12048391)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (11689263..11885684)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene nuclear pore complex interacting protein family member B1, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47746 Neighboring gene microRNA 7153 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:11689154-11689654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:11696745-11697246 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:11714059-11714618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:11732672-11733280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:11737507-11738276 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:11775153-11775652 Neighboring gene ASNS pseudogene 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:11796263-11796399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13096 Neighboring gene Sharpr-MPRA regulatory region 95 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:11856862-11858061 Neighboring gene uncharacterized LOC124904251 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:11861344-11862250 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:11875590-11875801 Neighboring gene uncharacterized LOC124904252 Neighboring gene charged multivesicular body protein 1B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9301 Neighboring gene uncharacterized LOC101927511 Neighboring gene metallophosphoesterase 1 Neighboring gene CRISPRi-validated cis-regulatory element chr18.397 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:11951641-11952330 Neighboring gene Sharpr-MPRA regulatory region 7933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13098 Neighboring gene inositol monophosphatase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. DYT-GNAL. Adam MP, et al. , 1993. PMID 30605297
    2. Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation. Sarva H, et al. Mov Disord, 2019 Feb. PMID 30536916, Free PMC Article
    3. GNAL mutation in isolated laryngeal dystonia. Putzel GG, et al. Mov Disord, 2016 May. PMID 27093447, Free PMC Article
    4. Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function. Dos Santos CO, et al. J Neurol, 2016 Apr. PMID 26810727, Free PMC Article
    5. Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype. Carecchio M, et al. Parkinsonism Relat Disord, 2016 Feb. PMID 26725140

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. cases extend and support prior limited literature that suggested that cervical dystonia from GNAL mutations may significantly improve with GPi deep brain stimulation
      Title: Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation.
    2. GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia.
      Title: GNAL mutation in isolated laryngeal dystonia.
    3. GNAL mutations are not a common cause of dystonia in the Brazilian population
      Title: Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.
    4. We report a novel GNAL mutation in Italian family with adult-onset, dominantly-inherited dystonia
      Title: Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.
    5. Mutations in the GNAL gene may not be a common cause of isolated dystonia in the Chinese population.
      Title: Mutations in GNAL gene in 214 cases with isolated dystonia.
    6. This study demonstrated that Mutations in GNAL may cause Dystonia.
      Title: Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.
    7. identified two novel GNAL mutations: one heterozygous missense variant in GNAL exon 4, c.289A>G.
      Title: Novel GNAL mutations in two German patients with sporadic dystonia.
    8. The findings of this study further support GNAL as causative gene in adult-onset isolated dystonia.
      Title: Screening of mutations in GNAL in sporadic dystonia patients.
    9. This study identified a novel likely disease-causing GNAL mutation in a Serbian patient with cervical dystonia and a classical DYT25 phenotype.
      Title: De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.
    10. Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion.
      Title: Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Dystonia 25
    MedGen: C4304670 OMIM: 615073 GeneReviews: Hereditary Dystonia Overview, DYT-GNAL
    		Compare labs

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G-protein beta/gamma-subunit complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adenylate cyclase-activating dopamine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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
    heterotrimeric guanine nucleotide-binding protein 1O

    NCBI Reference Sequences (RefSeq)

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    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_001142339.3 → NP_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
      Consensus CDS
      CCDS11852.1
      UniProtKB/Swiss-Prot
      B7ZA26, P38405, Q86XU3
      UniProtKB/TrEMBL
      A8K1Y9, Q8N2B4
      Related
      ENSP00000269162.4, ENST00000269162.9
      Conserved Domains (1) summary
      cd00066
      Location:43 → 375
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    2. NM_001261443.2 → NP_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
      B7ZA26, P38405, Q86XU3
      UniProtKB/TrEMBL
      A8K1Y9, Q8N2B4
      Related
      ENSP00000439023.1, ENST00000535121.5
      Conserved Domains (1) summary
      cd00066
      Location:43 → 375
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    3. NM_001261444.2 → NP_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:1 → 168
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    4. NM_001369387.1 → NP_001356316.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform 2

      Status: REVIEWED

      Source sequence(s)
      AI024119, AP001120, AP001269, BC050021, DA151077, DC414694, L10665
      Consensus CDS
      CCDS11852.1
      UniProtKB/Swiss-Prot
      B7ZA26, P38405, Q86XU3
      UniProtKB/TrEMBL
      A8K1Y9, Q8N2B4
      Related
      ENSP00000408489.2, ENST00000423027.8
      Conserved Domains (1) summary
      cd00066
      Location:43 → 375
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    5. NM_182978.4 → NP_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 (1) summary
      cd00066
      Location:120 → 452
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      11689264..11885685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722324.4 → XP_006722387.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform X1

      Conserved Domains (1) summary
      cl21455
      Location:120 → 240
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      11851607..12048391
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318532.1 → XP_054174507.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform X1

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P38405.1 GenPept UniProtKB/Swiss-Prot:P38405

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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