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

Gene ID: 55188, updated on 5-Mar-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 cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 2.6), gall bladder (RPKM 2.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q23.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (106774682..106889316)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (106738328..106852950)
105.20220307 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. ARMS/Kidins220 and synembryn-B levels regulate NGF-mediated secretion. López-Benito S, et al. J Cell Sci, 2016 May 1. PMID 26966186
  4. 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
  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 (24) 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)

Genotypes

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
  
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
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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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_2023_10

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.

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