OXGR1 oxoglutarate receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OXGR1provided by HGNC
Official Full Name: oxoglutarate receptor 1provided by HGNC
Primary source: HGNC:HGNC:4531
See related: Ensembl:ENSG00000165621 MIM:606922; AllianceGenome:HGNC:4531
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: aKGR; CAON2; GPR80; GPR99; P2Y15; P2RY15
Summary: This gene encodes a G protein-coupled receptor (GPCR) that belongs to the oxoglutarate receptor family within the GPCR superfamily. The encoded protein is activated by the citric acid intermediate, oxoglutarate, as well as several cysteinyl leukotrienes, including leukotrienes E4, C4 and D4, which are implicated in many inflammatory disorders. In mice, a knock-out of this gene leads to middle ear inflammation, changes in the mucosal epithelium, and an increase in fluid behind the eardrum, and is associated with hearing loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Expression: Broad expression in kidney (RPKM 1.0), colon (RPKM 0.6) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q32.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (96985713..96994730, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (96189803..96198827, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (97637967..97646984, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Title: OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Changes in expression of orphan receptors GPR99 and GPR107 during the development and establishment of hypertension in spontaneously hypertensive rats.
Title: Changes in expression of orphan receptors GPR99 and GPR107 during the development and establishment of hypertension in spontaneously hypertensive rats.
Exercise-induced alpha-ketoglutaric acid stimulates muscle hypertrophy and fat loss through OXGR1-dependent adrenal activation.
Title: Exercise-induced α-ketoglutaric acid stimulates muscle hypertrophy and fat loss through OXGR1-dependent adrenal activation.
GPR99 was mostly expressed in vascular smooth muscle cells of the nasal mucosa. There was no difference in GPR99 protein levels between allergic and non-allergic nasal mucosa.
Title: Expression and localization of GPR99 in human nasal mucosa.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Down-Regulation of OXGR1 through DNA Methylation is associated with hepatocellular carcinoma.
Title: Aberrant DNA methylation profile and frequent methylation of KLK10 and OXGR1 genes in hepatocellular carcinoma.
P2Y15 is a cell surface receptor for AMP and adenosine
Title: Identification and characterization of a cell-surface receptor, P2Y15, for AMP and adenosine.

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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

Associated conditions

Description	Tests
Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis MedGen: C5830516 OMIM: 620374 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482693

NoName (e-PCR)
- UniSTS:481430

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables signaling receptor 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
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	TAS Traceable Author Statement 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
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: 2-oxoglutarate receptor 1

Names: G protein-coupled receptor 80; G-protein coupled receptor 99; P2Y purinoceptor 15; P2Y-like GPCR; P2Y-like nucleotide receptor; alpha-ketoglutarate receptor 1; oxoglutarate (alpha-ketoglutarate) receptor 1; 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_001346194.2 → NP_001333123.1 2-oxoglutarate receptor 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, 4, and 5 encode the same protein.

Source sequence(s)

AK122639, AL356486, DN993601

Consensus CDS

CCDS9482.1

UniProtKB/Swiss-Prot

Q5T5A7, Q86TL1, Q96P68

UniProtKB/TrEMBL

B2R986

Related

ENSP00000437356.2, ENST00000541038.2

Conserved Domains (1) summary

cd15375
Location:34 → 313

7tmA_OXGR1; 2-oxoglutarate receptor 1, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001346195.2 → NP_001333124.1 2-oxoglutarate receptor 1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.

Source sequence(s)

AK122639, AL356486, DB204461

Consensus CDS

CCDS9482.1

UniProtKB/Swiss-Prot

Q5T5A7, Q86TL1, Q96P68

UniProtKB/TrEMBL

B2R986

Conserved Domains (1) summary

cd15375
Location:34 → 313

7tmA_OXGR1; 2-oxoglutarate receptor 1, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001346196.2 → NP_001333125.1 2-oxoglutarate receptor 1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.

Source sequence(s)

AK122639, AK313684, AL356486, DN993601

Consensus CDS

CCDS9482.1

UniProtKB/Swiss-Prot

Q5T5A7, Q86TL1, Q96P68

UniProtKB/TrEMBL

B2R986

Related

ENSP00000438800.1, ENST00000543457.6

Conserved Domains (1) summary

cd15375
Location:34 → 313

7tmA_OXGR1; 2-oxoglutarate receptor 1, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001346197.2 → NP_001333126.1 2-oxoglutarate receptor 1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate exon and uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.

Source sequence(s)

AK122639, AK313684, AL356486, DB204461

Consensus CDS

CCDS9482.1

UniProtKB/Swiss-Prot

Q5T5A7, Q86TL1, Q96P68

UniProtKB/TrEMBL

B2R986

Related

ENSP00000445269.2, ENST00000541518.6

Conserved Domains (1) summary

cd15375
Location:34 → 313

7tmA_OXGR1; 2-oxoglutarate receptor 1, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_080818.5 → NP_543008.3 2-oxoglutarate receptor 1

See identical proteins and their annotated locations for NP_543008.3

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.

Source sequence(s)

AK122639, AL356486, DN993601

Consensus CDS

CCDS9482.1

UniProtKB/Swiss-Prot

Q5T5A7, Q86TL1, Q96P68

UniProtKB/TrEMBL

B2R986

Related

ENSP00000298440.1, ENST00000298440.5

Conserved Domains (1) summary

cd15375
Location:34 → 313

7tmA_OXGR1; 2-oxoglutarate receptor 1, member of the class A family of seven-transmembrane G protein-coupled receptors

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_000013.11 Reference GRCh38.p14 Primary Assembly

Range

96985713..96994730 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430274.1 → XP_047286230.1 2-oxoglutarate receptor 1 isoform X1

UniProtKB/Swiss-Prot

Q5T5A7, Q86TL1, Q96P68

UniProtKB/TrEMBL

B2R986

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

96189803..96198827 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054374465.1 → XP_054230440.1 2-oxoglutarate receptor 1 isoform X1

UniProtKB/Swiss-Prot

Q5T5A7, Q86TL1, Q96P68

UniProtKB/TrEMBL

B2R986
XM_054374464.1 → XP_054230439.1 2-oxoglutarate receptor 1 isoform X1

UniProtKB/Swiss-Prot

Q5T5A7, Q86TL1, Q96P68

UniProtKB/TrEMBL

B2R986