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

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; AllianceGenome:HGNC:18510
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: mouse all
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Genomic context

Location:: 6q22.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (116792085..116829240, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (117975811..118012987, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (117113248..117150246, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RS 2247911 polymorphism of GPRC6A gene and serum undercarboxylated-osteocalcin are associated with testis function.
Title: RS 2247911 polymorphism of GPRC6A gene and serum undercarboxylated-osteocalcin are associated with testis function.
Explaining Divergent Observations Regarding Osteocalcin/GPRC6A Endocrine Signaling.
Title: Explaining Divergent Observations Regarding Osteocalcin/GPRC6A Endocrine Signaling.
Analysis of GPRC6A variants in different pancreatitis etiologies.
Title: Analysis of GPRC6A variants in different pancreatitis etiologies.
Humanized GPRC6A(KGKY) is a gain-of-function polymorphism in mice.
Title: Humanized GPRC6A(KGKY) is a gain-of-function polymorphism in mice.
SHBG141-161 Domain-Peptide Stimulates GPRC6A-Mediated Response in Leydig and beta-Langerhans cell lines.
Title: SHBG141-161 Domain-Peptide Stimulates GPRC6A-Mediated Response in Leydig and β-Langerhans cell lines.
rs2274911 polymorphism in GPRC6A associated with serum E2 and PSA in a Southern Chinese male population.
Title: rs2274911 polymorphism in GPRC6A associated with serum E2 and PSA in a Southern Chinese male population.
Human GPRC6A is required for mediating the effects of testosterone on cell proliferation and autophagy.
Title: Human GPRC6A Mediates Testosterone-Induced Mitogen-Activated Protein Kinases and mTORC1 Signaling in Prostate Cancer Cells.
The G protein-coupled receptor family C group 6 member A (GPRC6A) and zinc transporter member 9 (ZIP9) have also been portrayed as mARs, related to the extranuclear action of androgens.
Title: Membrane androgen receptors (OXER1, GPRC6A AND ZIP9) in prostate and breast cancer: A comparative study of their expression.
If the regulatory functions of GPRC6A identified in mice translate to humans, and polymorphisms in GPRC6A are found to predict racial disparities in human diseases, GPRC6A may be a new gene target to predict, prevent, and treat MetS, PCa, and other disorders impacted by GPRC6A.
Title: GPRC6A: Jack of all metabolism (or master of none).
Human GPRC6A is a functional osteocalcin and testosterone sensing receptor that promotes prostate cancer progression.
Title: CRISPR/Cas9 targeting of GPRC6A suppresses prostate cancer tumorigenesis in a human xenograft model.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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 identifies five new susceptibility loci for prostate cancer in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in regulation of testosterone biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to amino acid	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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)

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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)

NM_001286354.1 → NP_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:432 → 661

7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR

pfam01094
Location:75 → 302

ANF_receptor; Receptor family ligand binding region

pfam07562
Location:344 → 396

NCD3G; Nine Cysteines Domain of family 3 GPCR

cl10011
Location:37 → 331

Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
NM_001286355.1 → NP_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:536 → 765

7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR

pfam01094
Location:75 → 344

ANF_receptor; Receptor family ligand binding region

pfam07562
Location:448 → 500

NCD3G; Nine Cysteines Domain of family 3 GPCR

cl10011
Location:37 → 445

Periplasmic_Binding_Protein_Type_1; Type 1 periplasmic binding fold superfamily
NM_148963.4 → NP_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, Q6JK43, Q6JK44, Q8NGU8, Q8NHZ9, Q8TDT6

Related

ENSP00000309493.4, ENST00000310357.8

Conserved Domains (4) summary

cd06361
Location:37 → 506

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:607 → 836

7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR

pfam01094
Location:75 → 482

ANF_receptor; Receptor family ligand binding region

pfam07562
Location:519 → 571

NCD3G; Nine Cysteines Domain of family 3 GPCR

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

116792085..116829240 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017010475.2 → XP_016865964.1 G-protein coupled receptor family C group 6 member A isoform X1
XM_017010476.2 → XP_016865965.1 G-protein coupled receptor family C group 6 member A isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

117975811..118012987 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054354644.1 → XP_054210619.1 G-protein coupled receptor family C group 6 member A isoform X1
XM_054354645.1 → XP_054210620.1 G-protein coupled receptor family C group 6 member A isoform X2