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

Gene ID: 60626, updated on 7-Jun-2020

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
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
Expression
Ubiquitous expression in testis (RPKM 20.2), brain (RPKM 15.3) and 25 other tissues See more
Orthologs

Genomic context

See RIC8A in Genome Data Viewer
Location:
11p15.5
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (207511..215175)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (207499..215113)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene outer dense fiber of sperm tails 3 Neighboring gene Bet1 golgi vesicular membrane trafficking protein like Neighboring gene microRNA 6743 Neighboring gene sirtuin 3 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

NHGRI GWAS Catalog

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

Homology

Clone Names

  • MGC104517, MGC131931, MGC148073, MGC148074

Gene Ontology Provided by GOA

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

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_001286134.1NP_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, AK026897, AL136935
    Consensus CDS
    CCDS65982.1
    UniProtKB/Swiss-Prot
    Q9NPQ8
    Related
    ENSP00000432008.1, ENST00000526104.5
    Conserved Domains (1) summary
    pfam10165
    Location:67498
    Ric8; Guanine nucleotide exchange factor synembryn
  2. NM_021932.5NP_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, AK026897, 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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    207511..215175
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018107.2XP_016873596.1  synembryn-A isoform X2

    UniProtKB/Swiss-Prot
    Q9NPQ8
    Related
    ENSP00000434833.1, ENST00000527696.5
    Conserved Domains (1) summary
    pfam10165
    Location:2388
    Ric8; Guanine nucleotide exchange factor synembryn
  2. XM_005253052.4XP_005253109.1  synembryn-A isoform X1

    Conserved Domains (1) summary
    pfam10165
    Location:71502
    Ric8; Guanine nucleotide exchange factor synembryn
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