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    OXGR1 oxoglutarate receptor 1 [ Homo sapiens (human) ]

    Gene ID: 27199, updated on 27-Nov-2024

    Summary

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    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

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    See OXGR1 in Genome Data Viewer
    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_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 359 Neighboring gene TUB like protein 3 pseudogene 1 Neighboring gene RN7SK pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7886 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124903196

    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. OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Majmundar AJ, et al. Genet Med, 2023 Mar. PMID 36571463, Free PMC Article
    2. GPR99, a new G protein-coupled receptor with homology to a new subgroup of nucleotide receptors. Wittenberger T, et al. BMC Genomics, 2002 Jul 5. PMID 12098360, Free PMC Article
    3. Expression and localization of GPR99 in human nasal mucosa. Shirasaki H, et al. Auris Nasus Larynx, 2017 Apr. PMID 27324180
    4. The fate of P2Y-related orphan receptors: GPR80/99 and GPR91 are receptors of dicarboxylic acids. Gonzalez NS, et al. Purinergic Signal, 2004 Dec. PMID 18404396, Free PMC Article
    5. The recently deorphanized GPR80 (GPR99) proposed to be the P2Y15 receptor is not a genuine P2Y receptor. Abbracchio MP, et al. Trends Pharmacol Sci, 2005 Jan. PMID 15629198, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
      Title: OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. P2Y15 is a cell surface receptor for AMP and adenosine
      Title: Identification and characterization of a cell-surface receptor, P2Y15, for AMP and adenosine.
    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

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC119206, MGC119207, MGC119208

    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)

    1. 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

    2. 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

    3. 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

    4. 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

    5. 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

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      96985713..96994730 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      96189803..96198827 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q5T5A7, Q86TL1, Q96P68
      UniProtKB/TrEMBL
      B2R986

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

      UniProtKB/Swiss-Prot
      Q5T5A7, Q86TL1, Q96P68
      UniProtKB/TrEMBL
      B2R986
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96P68.1 GenPept UniProtKB/Swiss-Prot:Q96P68

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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