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    RIC8B RIC8 guanine nucleotide exchange factor B [ Homo sapiens (human) ]

    Gene ID: 55188, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RIC8Bprovided by HGNC
    Official Full Name
    RIC8 guanine nucleotide exchange factor Bprovided by HGNC
    Primary source
    HGNC:HGNC:25555
    See related
    Ensembl:ENSG00000111785 MIM:609147; AllianceGenome:HGNC:25555
    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; hSyn
    Summary
    Enables G-protein alpha-subunit binding activity. Acts upstream of or within regulation of G protein-coupled receptor signaling pathway. Located in centrosome; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.6), gall bladder (RPKM 2.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RIC8B in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (106774682..106889316)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (106738328..106852950)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (107168460..107283094)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106791431-106791932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106791933-106792432 Neighboring gene RNA polymerase III subunit B Neighboring gene ReSE screen-validated silencer GRCh37_chr12:106838256-106838461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106870783-106871355 Neighboring gene NANOG hESC enhancer GRCh37_chr12:106884667-106885244 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:106887966-106888130 Neighboring gene uncharacterized LOC100287944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106929421-106929920 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106934851-106935440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106944957-106945458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106974861-106975743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106977232-106977816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:106979571-106980156 Neighboring gene Sharpr-MPRA regulatory region 8958 Neighboring gene Sharpr-MPRA regulatory region 7289 Neighboring gene regulatory factor X4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:107038213-107038714 Neighboring gene uncharacterized LOC100505978 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:107104586-107105785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6948 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:107167609-107168160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6949 Neighboring gene uncharacterized LOC105369961 Neighboring gene NANOG hESC enhancer GRCh37_chr12:107270199-107270748 Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 4 Neighboring gene ribosomal protein L30 pseudogene 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The CREB Transcription Factor Controls Transcriptional Activity of the Human RIC8B Gene. Maureira A, et al. J Cell Biochem, 2016 Aug. PMID 26729411
    2. Human brain synembryn interacts with Gsalpha and Gqalpha and is translocated to the plasma membrane in response to isoproterenol and carbachol. Klattenhoff C, et al. J Cell Physiol, 2003 May. PMID 12652642
    3. Ric-8B stabilizes the alpha subunit of stimulatory G protein by inhibiting its ubiquitination. Nagai Y, et al. J Biol Chem, 2010 Apr 9. PMID 20133939, Free PMC Article
    4. ARMS/Kidins220 and synembryn-B levels regulate NGF-mediated secretion. López-Benito S, et al. J Cell Sci, 2016 May 1. PMID 26966186
    5. Genome-wide association study of autistic-like traits in a general population study of young adults. Jones RM, et al. Front Hum Neurosci, 2013. PMID 24133439, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. these data show the existence of functional CREB and C/EBP binding sites in the human RIC8B gene promoter, a particular distribution of these sites and demonstrate a relevant role of CREB in stimulating transcriptional activity of this gene.
      Title: The CREB Transcription Factor Controls Transcriptional Activity of the Human RIC8B Gene.
    2. overexpression of ARMS blocked NGF-mediated secretion, without affecting basal secretion, a decrease in ARMS resulted in potentiation. Similar effects were observed with synembryn-B, a protein that interacts directly with ARMS. Downstream of ARMS and synembryn-B are Galphaq and Trio proteins, which modulate the activity of Rac1 in response to NGF
      Title: ARMS/Kidins220 and synembryn-B levels regulate NGF-mediated secretion.
    3. Ric-8B plays a critical and specific role in the control of G alpha(s) protein levels by modulating G alpha(s) ubiquitination and positively regulates G(s) signaling
      Title: Ric-8B stabilizes the alpha subunit of stimulatory G protein by inhibiting its ubiquitination.
    4. We identified a protein member of the synembryn family as one of the interacting proteins in human brain. Gqalpha also interacts with synembryn. Synembryn translocates to the plasma membrane in response to carbachol and isoproterenol.
      Title: Human brain synembryn interacts with Gsalpha and Gqalpha and is translocated to the plasma membrane in response to isoproterenol and carbachol.
    Submit: New GeneRIF Correction

    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
    Genome-wide association study of autistic-like traits in a general population study of young adults.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of resistance to inhibitors of cholinesterase 8 homolog B (C. elegans, RIC8B) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells 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

    • FLJ10620, MGC39476

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 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 protein folding IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within regulation of G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sensory perception of smell ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    synembryn-B
    Names
    brain synembrin
    brain synembryn
    resistance to inhibitors of cholinesterase 8 homolog B

    NCBI Reference Sequences (RefSeq)

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    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_001330145.2 → NP_001317074.1  synembryn-B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC007695, AW896637, BC034220, BX105894, DA325821
      Consensus CDS
      CCDS81734.1
      UniProtKB/TrEMBL
      B7WPL0
      Related
      ENSP00000376582.4, ENST00000392837.9
      Conserved Domains (1) summary
      pfam10165
      Location:66 → 525
      Ric8; Guanine nucleotide exchange factor synembryn

    2. NM_001330146.2 → NP_001317075.1  synembryn-B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC007695, AW896637, BC034220, BX105894, DA325821
      UniProtKB/Swiss-Prot
      Q9NVN3
      Conserved Domains (1) summary
      pfam10165
      Location:50 → 509
      Ric8; Guanine nucleotide exchange factor synembryn

    3. NM_001330147.2 → NP_001317076.1  synembryn-B isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an alternate penultimate exon, compared to variant 1, resulting in a novel 3' coding region and longer 3' UTR. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC007695, BC034220, BX105894, DA325821
      Consensus CDS
      CCDS81733.1
      Related
      ENSP00000435301.1, ENST00000462949.5
      Conserved Domains (1) summary
      pfam10165
      Location:66 → 524
      Ric8; Guanine nucleotide exchange factor synembryn

    4. NM_001351361.2 → NP_001338290.1  synembryn-B isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011
      Conserved Domains (1) summary
      pfam10165
      Location:58 → 517
      Ric8; Guanine nucleotide exchange factor synembryn

    5. NM_001351362.2 → NP_001338291.1  synembryn-B isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011
      Conserved Domains (1) summary
      pfam10165
      Location:58 → 475
      Ric8; Guanine nucleotide exchange factor synembryn

    6. NM_001351363.2 → NP_001338292.1  synembryn-B isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011
      Conserved Domains (1) summary
      pfam10165
      Location:50 → 467
      Ric8; Guanine nucleotide exchange factor synembryn

    7. NM_001351364.2 → NP_001338293.1  synembryn-B isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC007695, BC034220
      Consensus CDS
      CCDS86331.1
      Related
      ENSP00000347662.2, ENST00000355478.6
      Conserved Domains (1) summary
      pfam10165
      Location:26 → 484
      Ric8; Guanine nucleotide exchange factor synembryn

    8. NM_001351366.2 → NP_001338295.1  synembryn-B isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011
      Conserved Domains (1) summary
      pfam10165
      Location:1 → 437
      Ric8; Guanine nucleotide exchange factor synembryn

    9. NM_001351367.2 → NP_001338296.1  synembryn-B isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011
      Conserved Domains (1) summary
      pfam10165
      Location:1 → 396
      Ric8; Guanine nucleotide exchange factor synembryn

    10. NM_018157.4 → NP_060627.2  synembryn-B isoform 4

      See identical proteins and their annotated locations for NP_060627.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (4) shorter than isoform 1.
      Source sequence(s)
      AC007695, BX105894, CB215722, DA014333, DA118965, DA534432
      Consensus CDS
      CCDS9109.2
      UniProtKB/Swiss-Prot
      A2RTZ0, Q4G103, Q6ZRN4, Q86WD3, Q9NVN3
      Related
      ENSP00000376583.2, ENST00000392839.6
      Conserved Domains (1) summary
      pfam10165
      Location:66 → 483
      Ric8; Guanine nucleotide exchange factor synembryn

    RNA

    1. NR_147131.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011

    2. NR_147132.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011

    3. NR_147133.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011

    4. NR_147134.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011

    5. NR_147135.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011

    6. NR_147136.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011

    7. NR_147137.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011

    8. NR_147138.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011

    9. NR_147139.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007695, AC079385, AC090011

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      106774682..106889316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007063099.1 RNA Sequence

    2. XR_007063098.1 RNA Sequence

    3. XR_007063100.1 RNA Sequence

    4. XR_007063102.1 RNA Sequence

    5. XR_007063101.1 RNA Sequence

    6. XR_002957346.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      106738328..106852950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008488634.1 RNA Sequence

    2. XR_008488632.1 RNA Sequence

    3. XR_008488635.1 RNA Sequence

    4. XR_008488637.1 RNA Sequence

    5. XR_008488636.1 RNA Sequence

    6. XR_008488633.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVN3.2 GenPept UniProtKB/Swiss-Prot:Q9NVN3

    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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