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

Gene ID: 2774, updated on 22-Aug-2020

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:
17
Annotation release Status Assembly Chr Location
109.20200815 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 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
Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
GeneReviews: Not available
Dystonia 25 Compare labs

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
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_001142339.3NP_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, ENST00000423027.7
    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 Updated Annotation Release 109.20200815

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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