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GPRC6A G protein-coupled receptor class C group 6 member A [ Homo sapiens (human) ]

Gene ID: 222545, updated on 3-May-2020

Summary

Official Symbol
GPRC6Aprovided by HGNC
Official Full Name
G protein-coupled receptor class C group 6 member Aprovided by HGNC
Primary source
HGNC:HGNC:18510
See related
Ensembl:ENSG00000173612 MIM:613572
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
GPCR; bA86F4.3
Summary
Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See GPRC6A in Genome Data Viewer
Location:
6q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (116788512..116831128, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (117113248..117150256, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377963 Neighboring gene family with sequence similarity 162 member B Neighboring gene regulatory factor X6 Neighboring gene ribosomal protein S29 pseudogene 13

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
Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
NHGRI GWA Catalog

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
response to amino acid IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell surface IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
G-protein coupled receptor family C group 6 member A
Names
G protein-coupled receptor, family C, group 6, member A
G-protein coupled receptor GPCR33
predicted with SOSUI analysis
seven transmembrane helix receptor

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_001286354.1NP_001273283.1  G-protein coupled receptor family C group 6 member A isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AF502962, AY435126, BG191110, DY319308
    Consensus CDS
    CCDS69185.1
    UniProtKB/Swiss-Prot
    Q5T6X5
    Related
    ENSP00000433465.1, ENST00000530250.1
    Conserved Domains (4) summary
    pfam00003
    Location:432661
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    pfam01094
    Location:75302
    ANF_receptor; Receptor family ligand binding region
    pfam07562
    Location:344396
    NCD3G; Nine Cysteines Domain of family 3 GPCR
    cl10011
    Location:37331
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  2. NM_001286355.1NP_001273284.1  G-protein coupled receptor family C group 6 member A isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    AF502962, AW771483, AY435127, BG191110, DY319308
    Consensus CDS
    CCDS69184.1
    UniProtKB/Swiss-Prot
    Q5T6X5
    Related
    ENSP00000357537.3, ENST00000368549.7
    Conserved Domains (4) summary
    pfam00003
    Location:536765
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    pfam01094
    Location:75344
    ANF_receptor; Receptor family ligand binding region
    pfam07562
    Location:448500
    NCD3G; Nine Cysteines Domain of family 3 GPCR
    cl10011
    Location:37445
    Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
  3. NM_148963.4NP_683766.2  G-protein coupled receptor family C group 6 member A isoform 1 precursor

    See identical proteins and their annotated locations for NP_683766.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL354716
    Consensus CDS
    CCDS5112.1
    UniProtKB/Swiss-Prot
    Q5T6X5
    Related
    ENSP00000309493.3, ENST00000310357.7
    Conserved Domains (4) summary
    cd06361
    Location:37506
    PBP1_GPC6A_like; Ligand-binding domain of the promiscuous L-alpha-amino acid receptor GPRC6A which is a broad-spectrum amino acid-sensing receptor
    pfam00003
    Location:607836
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    pfam01094
    Location:75482
    ANF_receptor; Receptor family ligand binding region
    pfam07562
    Location:519571
    NCD3G; Nine Cysteines Domain of family 3 GPCR

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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    116788512..116831128 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010475.1XP_016865964.1  G-protein coupled receptor family C group 6 member A isoform X1

  2. XM_017010476.1XP_016865965.1  G-protein coupled receptor family C group 6 member A isoform X2

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