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    RIC8A RIC8 guanine nucleotide exchange factor A [ Homo sapiens (human) ]

    Gene ID: 60626, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RIC8Aprovided by HGNC
    Official Full Name
    RIC8 guanine nucleotide exchange factor Aprovided by HGNC
    Primary source
    HGNC:HGNC:29550
    See related
    Ensembl:ENSG00000177963 MIM:609146; AllianceGenome:HGNC:29550
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RIC8
    Summary
    Predicted to enable G-protein alpha-subunit binding activity; GTPase activator activity; and guanyl-nucleotide exchange factor activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to act upstream of or within several processes, including basement membrane organization; gastrulation; and visual learning. Predicted to be located in membrane. Predicted to be active in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 20.2), brain (RPKM 15.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11p15.5
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (207708..215113)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (248906..256311)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (207708..215113)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ciliary microtubule associated protein 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:205815-206314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:206625-207126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2986 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:207673-208294 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:208295-208914 Neighboring gene Bet1 golgi vesicular membrane trafficking protein like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:208989-209576 Neighboring gene microRNA 6743 Neighboring gene sirtuin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4256 Neighboring gene proteasome 26S subunit, non-ATPase 13 Neighboring gene signal recognition particle 19kDa pseudogene Neighboring gene cytochrome c oxidase subunit 8B, pseudogene

    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. Dual phosphorylation of Ric-8A enhances its ability to mediate G protein α subunit folding and to stimulate guanine nucleotide exchange. Papasergi-Scott MM, et al. Sci Signal, 2018 May 29. PMID 29844055, Free PMC Article
    2. Activator of G protein signaling 3 forms a complex with resistance to inhibitors of cholinesterase-8A without promoting nucleotide exchange on Gα(i3). Tse MK, et al. Mol Cell Biochem, 2015 Mar. PMID 25480567
    3. Resistance to inhibitors of cholinesterase (Ric)-8A and Gαi contribute to cytokinesis abscission by controlling vacuolar protein-sorting (Vps)34 activity. Boularan C, et al. PLoS One, 2014. PMID 24466196, Free PMC Article
    4. Resistance to inhibitors of cholinesterase-8A (Ric-8A) is critical for growth factor receptor-induced actin cytoskeletal reorganization. Wang L, et al. J Biol Chem, 2011 Sep 2. PMID 21771786, Free PMC Article
    5. Structures of Gα Proteins in Complex with Their Chaperone Reveal Quality Control Mechanisms. Seven AB, et al. Cell Rep, 2020 Mar 17. PMID 32126208, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. circPDE4B prevents articular cartilage degeneration and promotes repair by acting as a scaffold for RIC8A and MID1.
      Title: circPDE4B prevents articular cartilage degeneration and promotes repair by acting as a scaffold for RIC8A and MID1.
    2. Structures of Galpha Proteins in Complex with Their Chaperone Reveal Quality Control Mechanisms.
      Title: Structures of Gα Proteins in Complex with Their Chaperone Reveal Quality Control Mechanisms.
    3. These results indicate that dual phosphorylation represents a critical form of conserved Ric-8 regulation and demonstrate that Ric-8 proteins are needed for effective Galpha signaling.
      Title: Dual phosphorylation of Ric-8A enhances its ability to mediate G protein α subunit folding and to stimulate guanine nucleotide exchange.
    4. Human NCS-1 and Ric8a reproduce the binding and maintain the structural requirements at these key positions. Drosophila Ric8a and Galphas regulate synapse number and neurotransmitter release, and both are functionally linked to Frq2.
      Title: The guanine-exchange factor Ric8a binds to the Ca²⁺ sensor NCS-1 to regulate synapse number and neurotransmitter release.
    5. Results confirmed that Ric-8A can directly bind to AGS3S but failed to facilitate Galpha(i)-induced suppression of adenylyl cyclase, suggesting that it may not serve as a guanine exchange factor for AGS3/Galpha(i/o)-GDP complex in a cellular environment.
      Title: Activator of G protein signaling 3 forms a complex with resistance to inhibitors of cholinesterase-8A without promoting nucleotide exchange on Gα(i3).
    6. Ric-8A co-localized with Vps34 at the midbody.
      Title: Resistance to inhibitors of cholinesterase (Ric)-8A and Gαi contribute to cytokinesis abscission by controlling vacuolar protein-sorting (Vps)34 activity.
    7. The ubiquitination of Galphai2 and Galphaq is suppressed by expression of Ric-8A. The suppression likely requires Ric-8A interaction with these Galpha proteins; the C-terminal truncation of Galphaq and Galphai2 completely abrogates their interaction with Ric-8A.
      Title: Ubiquitination of the heterotrimeric G protein α subunits Gαi2 and Gαq is prevented by the guanine nucleotide exchange factor Ric-8A.
    8. NCAM180 regulates Ric8A membrane localization and potentiates beta-adrenergic response
      Title: NCAM180 regulates Ric8A membrane localization and potentiates β-adrenergic response.
    9. RGS14 can form complexes with GPCRs in cells that are dependent on Galpha(i/o) and these RGS14.Galpha(i1).GPCR complexes may be substrates for other signaling partners such as Ric-8A
      Title: G protein-coupled receptors and resistance to inhibitors of cholinesterase-8A (Ric-8A) both regulate the regulator of g protein signaling 14 RGS14·Gαi1 complex in live cells.
    10. Ric-8A is critical for growth factor receptor-induced actin cytoskeletal reorganization
      Title: Resistance to inhibitors of cholinesterase-8A (Ric-8A) is critical for growth factor receptor-induced actin cytoskeletal reorganization.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    EBI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    EBI GWAS Catalog
    A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.
    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of RIC8A PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC104517, MGC131931, MGC148073, MGC148074

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-protein alpha-subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in basement membrane organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell migration involved in gastrulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell adhesion involved in gastrulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vasculature development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    synembryn-A
    Names
    resistance to inhibitors of cholinesterase 8 homolog A

    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.

    mRNA and Protein(s)

    1. NM_001286134.2 → NP_001273063.1  synembryn-A isoform 2

      See identical proteins and their annotated locations for NP_001273063.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC069287
      Consensus CDS
      CCDS65982.1
      UniProtKB/Swiss-Prot
      Q0P508, Q2T9J1, Q7Z352, Q96EZ1, Q96SZ2, Q9H064, Q9H5H3, Q9H9E7, Q9NPQ8
      Related
      ENSP00000432008.1, ENST00000526104.6
      Conserved Domains (1) summary
      pfam10165
      Location:67 → 498
      Ric8; Guanine nucleotide exchange factor synembryn

    2. NM_001386941.1 → NP_001373870.1  synembryn-A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC069287
      Conserved Domains (1) summary
      pfam10165
      Location:71 → 497
      Ric8; Guanine nucleotide exchange factor synembryn

    3. NM_001386942.1 → NP_001373871.1  synembryn-A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC069287
      Related
      ENSP00000434833.1, ENST00000527696.5
      Conserved Domains (1) summary
      pfam10165
      Location:2 → 383
      Ric8; Guanine nucleotide exchange factor synembryn

    4. NM_021932.6 → NP_068751.4  synembryn-A isoform 1

      See identical proteins and their annotated locations for NP_068751.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC069287, AL136935
      Consensus CDS
      CCDS7690.1
      UniProtKB/Swiss-Prot
      Q9NPQ8
      Related
      ENSP00000325941.5, ENST00000325207.9
      Conserved Domains (1) summary
      pfam10165
      Location:67 → 504
      Ric8; Guanine nucleotide exchange factor synembryn

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      207708..215113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427393.1 → XP_047283349.1  synembryn-A isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      248906..256311
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369611.1 → XP_054225586.1  synembryn-A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPQ8.3 GenPept UniProtKB/Swiss-Prot:Q9NPQ8

    Gene LinkOut

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

    Chemical Information
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