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

    Gene ID: 2775, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:4389
    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; HG1G; DEE17; 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
    NEW
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    Try the new Transcript table

    Genomic context

    See GNAO1 in Genome Data Viewer
    Location:
    16q13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (56191489..56357444)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (61986534..62152480)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56225401..56391356)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371281 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:56102252-56103451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56135990-56136490 Neighboring gene uncharacterized LOC102725116 Neighboring gene NANOG hESC enhancer GRCh37_chr16:56147097-56147598 Neighboring gene GNAO1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56226034-56226607 Neighboring gene GNAO1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56297649-56298217 Neighboring gene microRNA 3935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56311207-56311706 Neighboring gene Sharpr-MPRA regulatory region 182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:56316059-56316608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:56316609-56317156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56318360-56318881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56322213-56322875 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56337209-56337709 Neighboring gene NANOG hESC enhancer GRCh37_chr16:56339811-56340312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56346109-56347085 Neighboring gene Sharpr-MPRA regulatory region 3823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56379271-56379958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56382339-56382839 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:56389828-56389987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10848 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:56396251-56396424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56396447-56396947 Neighboring gene autocrine motility factor receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10849 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?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-05-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2022-05-10)

    ClinGen Genome Curation PagePubMed

    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

    Clone Names

    • DKFZp686O0962

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables G protein-coupled serotonin 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 adenylate cyclase regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables corticotropin-releasing hormone receptor 1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables mu-type opioid receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of heterotrimeric G-protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    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
    heterotrimeric guanine nucleotide-binding protein 1G

    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_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, P29777, Q8TD72, Q9UMV4
      UniProtKB/TrEMBL
      B3KP89
      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/TrEMBL
      A0A142CHG9
      Related
      ENSP00000262494.7, ENST00000262494.13
      Conserved Domains (1) summary
      cd00066
      Location:34348
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011523003.4XP_011521305.1  guanine nucleotide-binding protein G(o) subunit alpha isoform X1

      UniProtKB/TrEMBL
      Q8N6I9
      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

    RNA

    1. XR_007064866.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      61986534..62152480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380080.1XP_054236055.1  guanine nucleotide-binding protein G(o) subunit alpha isoform X1

      UniProtKB/TrEMBL
      Q8N6I9

    RNA

    1. XR_008489074.1 RNA Sequence