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GNAO1 G protein subunit alpha o1 [ Homo sapiens (human) ]

Gene ID: 2775, updated on 1-Jun-2020

Summary

Official Symbol
GNAO1provided by HGNC
Official Full Name
G protein subunit alpha o1provided by HGNC
Primary source
HGNC:HGNC:4389
See related
Ensembl:ENSG00000087258 MIM:139311
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
GNAO; NEDIM; EIEE17; HLA-DQB1; G-ALPHA-o
Summary
The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Expression
Biased expression in brain (RPKM 43.5), testis (RPKM 4.7) and 2 other tissues See more
Orthologs

Genomic context

See GNAO1 in Genome Data Viewer
Location:
16q13
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (56191489..56357444)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56225251..56391356)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371281 Neighboring gene uncharacterized LOC283856 Neighboring gene uncharacterized LOC102725116 Neighboring gene uncharacterized LOC26077 Neighboring gene microRNA 3935 Neighboring gene autocrine motility factor receptor Neighboring gene nudix hydrolase 21

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef Coimmunoprecipitation experiments indicate HIV-1 Nef binds to non-palmitoylated G(o)alpha, presumably outside caveolin-rich micro domains of the plasma membrane PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686O0962

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-coupled serotonin 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 
corticotropin-releasing hormone receptor 1 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
mu-type opioid receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway, calcium modulating pathway TAS
Traceable Author Statement
more info
 
adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dopamine receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
protein folding TAS
Traceable Author Statement
more info
 
regulation of heart contraction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell body IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
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(o) subunit alpha
Names
GO2-q chimeric G-protein
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
guanine nucleotide-binding regulatory protein 2

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_042800.1 RefSeqGene

    Range
    5151..171106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020988.3NP_066268.1  guanine nucleotide-binding protein G(o) subunit alpha isoform a

    See identical proteins and their annotated locations for NP_066268.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes isoform a.
    Source sequence(s)
    AC009102, AK056008, BC030027, DA529437
    Consensus CDS
    CCDS10756.1
    UniProtKB/Swiss-Prot
    P09471
    UniProtKB/TrEMBL
    B3KP89, Q8N6I9
    Related
    ENSP00000262493.6, ENST00000262493.12
    Conserved Domains (1) summary
    cd00066
    Location:34348
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
  2. NM_138736.3NP_620073.2  guanine nucleotide-binding protein G(o) subunit alpha isoform b

    See identical proteins and their annotated locations for NP_620073.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) is the same length but has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AF493895, AK056008, AL512686, BC030027, BX647214, DA115582, DA529437
    Consensus CDS
    CCDS10757.1
    UniProtKB/Swiss-Prot
    P09471
    UniProtKB/TrEMBL
    B3KP89, Q6AWC5, Q8N6I9
    Related
    ENSP00000262494.7, ENST00000262494.12
    Conserved Domains (1) summary
    cd00066
    Location:34348
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    56191489..56357444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523003.3XP_011521305.1  guanine nucleotide-binding protein G(o) subunit alpha isoform X1

    Conserved Domains (2) summary
    cd00066
    Location:12306
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    pfam00503
    Location:12301
    G-alpha; G-protein alpha subunit
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