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

    Gene ID: 60626, updated on 10-Dec-2024

    Summary

    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 regulator activity; and protein folding chaperone. 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, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 20.2), brain (RPKM 15.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RIC8A in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (207708..215113)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (248906..256311)
    RS_2024_09 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

    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

    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

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 G-protein alpha-subunit binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables guanyl-nucleotide exchange factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein folding chaperone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in G protein-coupled receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    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 protein folding 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
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    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

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

    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.

    mRNA and Protein(s)

    1. NM_001286134.2NP_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:67498
      Ric8; Guanine nucleotide exchange factor synembryn
    2. NM_001386941.1NP_001373870.1  synembryn-A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC069287
      Conserved Domains (1) summary
      pfam10165
      Location:71497
      Ric8; Guanine nucleotide exchange factor synembryn
    3. NM_001386942.1NP_001373871.1  synembryn-A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC069287
      Related
      ENSP00000434833.1, ENST00000527696.5
      Conserved Domains (1) summary
      pfam10165
      Location:2383
      Ric8; Guanine nucleotide exchange factor synembryn
    4. NM_021932.6NP_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:67504
      Ric8; Guanine nucleotide exchange factor synembryn

    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_000011.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047427393.1XP_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_054369611.1XP_054225586.1  synembryn-A isoform X1