U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 2774, updated on 13-May-2022

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; 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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See GNAL in Genome Data Viewer
Location:
18p11.21
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (11689264..11885685)
110 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 microRNA 7153 Neighboring gene ASNS pseudogene 6 Neighboring gene uncharacterized LOC124904251 Neighboring gene uncharacterized LOC124904252 Neighboring gene charged multivesicular body protein 1B Neighboring gene uncharacterized LOC101927511 Neighboring gene metallophosphoesterase 1 Neighboring gene CRISPRi-validated cis-regulatory element chr18.397 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 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables G-protein beta/gamma-subunit complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
part_of heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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
heterotrimeric guanine nucleotide-binding protein 1O

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001142339.3NP_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
    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_001261443.2NP_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, ENST00000423027.8
    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 (1) summary
    cd00066
    Location:120452
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_006722324.4XP_006722387.1  guanine nucleotide-binding protein G(olf) subunit alpha isoform X1

    Conserved Domains (1) summary
    cl21455
    Location:120240
    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)

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.