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    ADGRA1 adhesion G protein-coupled receptor A1 [ Homo sapiens (human) ]

    Gene ID: 84435, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ADGRA1provided by HGNC
    Official Full Name
    adhesion G protein-coupled receptor A1provided by HGNC
    Primary source
    HGNC:HGNC:13838
    See related
    Ensembl:ENSG00000197177 MIM:612302; AllianceGenome:HGNC:13838
    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
    GPR123
    Summary
    This gene encodes a protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Mar 2014]
    Expression
    Biased expression in brain (RPKM 3.7), adrenal (RPKM 1.0) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See ADGRA1 in Genome Data Viewer
    Location:
    10q26.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133087924..133131675)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134037634..134087440)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (134901428..134945179)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268067 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:134826346-134827545 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134843359-134843972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134844587-134845200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134863995-134864618 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr10:134871141-134872133 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134877264-134877766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134885135-134885816 Neighboring gene MPRA-validated peak1134 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134902582-134903344 Neighboring gene ADGRA1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134911870-134912370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134915449-134916424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134917665-134918227 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134918228-134918789 Neighboring gene CEB36 minisatellite repeat instability region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134940316-134941027 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134941028-134941740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134953797-134954355 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134963792-134964598 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134964599-134965404 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134965405-134966211 Neighboring gene ribosomal protein L5 pseudogene 28 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134974094-134974683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134974684-134975274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134979051-134979562 Neighboring gene kinase non-catalytic C-lobe domain containing 1 Neighboring gene uncharacterized LOC105378574

    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. Essential Role of Adhesion GPCR, GPR123, for Human Pluripotent Stem Cells and Reprogramming towards Pluripotency. Krasnova OA, et al. Cells, 2023 Jan 13. PMID 36672239, Free PMC Article
    2. Adhesion GPR123 is an indicator for recurrence and prognosis in bladder cancer. Liu Y, et al. Genes Genomics, 2021 Nov. PMID 33945147
    3. The evolutionary history and tissue mapping of GPR123: specific CNS expression pattern predominantly in thalamic nuclei and regions containing large pyramidal cells. Lagerström MC, et al. J Neurochem, 2007 Feb. PMID 17212699
    4. Unique transcriptome patterns of the white and grey matter corroborate structural and functional heterogeneity in the human frontal lobe. Mills JD, et al. PLoS One, 2013. PMID 24194939, Free PMC Article
    5. Identification of novel splice variants of Adhesion G protein-coupled receptors. Bjarnadóttir TK, et al. Gene, 2007 Jan 31. PMID 17056209

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Essential Role of Adhesion GPCR, GPR123, for Human Pluripotent Stem Cells and Reprogramming towards Pluripotency.
      Title: Essential Role of Adhesion GPCR, GPR123, for Human Pluripotent Stem Cells and Reprogramming towards Pluripotency.
    2. Adhesion GPR123 is an indicator for recurrence and prognosis in bladder cancer.
      Title: Adhesion GPR123 is an indicator for recurrence and prognosis in bladder cancer.
    3. Studies indicate that the orthologs of GP123 in mouse and rat play a role in the regulation of neuronal signaling pathways.
      Title: The evolutionary history and tissue mapping of GPR123: specific CNS expression pattern predominantly in thalamic nuclei and regions containing large pyramidal cells.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genes to diseases (G2D) computational method to identify asthma candidate genes.
    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

    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

    Homology

    Clone Names

    • FLJ25875, FLJ37356

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in glutamatergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    adhesion G protein-coupled receptor A1
    Names
    G-protein coupled receptor 123
    probable G-protein coupled receptor 123

    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.

    Genomic

    1. NG_034069.1 RefSeqGene

      Range
      4921..48672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001083909.3 → NP_001077378.1  adhesion G protein-coupled receptor A1 isoform 1

      See identical proteins and their annotated locations for NP_001077378.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL445199, BC044247, DA208698, EF536972
      Consensus CDS
      CCDS41580.1
      UniProtKB/Swiss-Prot
      A5HL16, A6NG50, Q5T234, Q86SN7, Q86SQ6, Q96JJ9
      Related
      ENSP00000376384.3, ENST00000392607.8
      Conserved Domains (1) summary
      cl21561
      Location:26 → 294
      7tm_4; Olfactory receptor

    2. NM_001291085.2 → NP_001278014.1  adhesion G protein-coupled receptor A1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the use of an alternate promoter, contains a different 5' structure and uses a downstream start codon compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AB058731, AL445199, BC044247
      Consensus CDS
      CCDS76362.1
      UniProtKB/Swiss-Prot
      Q86SQ6
      Related
      ENSP00000376383.2, ENST00000392606.2
      Conserved Domains (2) summary
      cd14964
      Location:37 → 53
      7tm_GPCRs; TM helix 4 [structural motif]
      cl28897
      Location:1 → 226
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      133087924..133131675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016779.2 → XP_016872268.1  adhesion G protein-coupled receptor A1 isoform X2

      Conserved Domains (1) summary
      PHA03247
      Location:117 → 250
      PHA03247; large tegument protein UL36; Provisional

    2. XM_011540273.1 → XP_011538575.1  adhesion G protein-coupled receptor A1 isoform X1

      Conserved Domains (2) summary
      cd14964
      Location:3 → 26
      7tm_GPCRs; TM helix 5 [structural motif]
      cl28897
      Location:1 → 154
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      134037634..134087440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366947.1 → XP_054222922.1  adhesion G protein-coupled receptor A1 isoform X2

    2. XM_054366946.1 → XP_054222921.1  adhesion G protein-coupled receptor A1 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032422.2: Suppressed sequence

      Description
      NM_032422.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86SQ6.3 GenPept UniProtKB/Swiss-Prot:Q86SQ6

    Gene LinkOut

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

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