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    ADGRD1 adhesion G protein-coupled receptor D1 [ Homo sapiens (human) ]

    Gene ID: 283383, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ADGRD1provided by HGNC
    Official Full Name
    adhesion G protein-coupled receptor D1provided by HGNC
    Primary source
    HGNC:HGNC:19893
    See related
    Ensembl:ENSG00000111452 MIM:613639; AllianceGenome:HGNC:19893
    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
    PGR25; GPR133
    Summary
    The adhesion G-protein-coupled receptors (GPCRs), including GPR133, are membrane-bound proteins with long N termini containing multiple domains. GPCRs, or GPRs, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (summary by Bjarnadottir et al., 2004 [PubMed 15203201]).[supplied by OMIM, Nov 2010]
    Expression
    Broad expression in placenta (RPKM 7.4), lung (RPKM 6.8) and 20 other tissues See more
    Orthologs
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    Genomic context

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    See ADGRD1 in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (130953907..131141469)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (130993251..131181371)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (131438452..131626014)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr12:131355651-131356412 and GRCh37_chr12:131356413-131357174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7349 Neighboring gene Sharpr-MPRA regulatory region 1775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7351 Neighboring gene RNA, U6 small nuclear 1077, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7352 Neighboring gene RAN, member RAS oncogene family Neighboring gene Sharpr-MPRA regulatory region 4789 Neighboring gene uncharacterized LOC124903054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131464091-131465081 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25923 Neighboring gene ADGRD1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7354 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:131495017-131496216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131512879-131513380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131532400-131532904 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:131542065-131542234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131555861-131556362 Neighboring gene uncharacterized LOC107984452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131616699-131617331 Neighboring gene long intergenic non-protein coding RNA 1257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131689145-131689646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7360 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:131707318-131707489 Neighboring gene uncharacterized LOC105370082 Neighboring gene Sharpr-MPRA regulatory region 713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131719246-131719855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:131746328-131746828

    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. Upregulation of GPR133 expression impaired the phagocytosis of macrophages in recurrent spontaneous miscarriage. Sun JX, et al. Epigenetics, 2024 Dec. PMID 38564758, Free PMC Article
    2. ADGRD1 as a Potential Prognostic and Immunological Biomarker in Non-Small-Cell Lung Cancer. Lv M, et al. Biomed Res Int, 2022. PMID 36457341, Free PMC Article
    3. Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs. Tönjes A, et al. Hum Mol Genet, 2009 Dec 1. PMID 19729412, Free PMC Article
    4. N(6) -methyladenosine (m(6) A) RNA modification of G protein-coupled receptor 133 increases proliferation of lung adenocarcinoma. Wu G, et al. FEBS Open Bio, 2022 Mar. PMID 34185971, Free PMC Article
    5. Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133). Fischer L, et al. BMC Genomics, 2016 Aug 11. PMID 27516204, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Modulation of GPR133 (ADGRD1) signaling by its intracellular interaction partner extended synaptotagmin 1.
      Title: Modulation of GPR133 (ADGRD1) signaling by its intracellular interaction partner extended synaptotagmin 1.
    2. Upregulation of mRNA Expression of ADGRD1/GPR133 and ADGRG7/GPR128 in SARS-CoV-2-Infected Lung Adenocarcinoma Calu-3 Cells.
      Title: Upregulation of mRNA Expression of ADGRD1/GPR133 and ADGRG7/GPR128 in SARS-CoV-2-Infected Lung Adenocarcinoma Calu-3 Cells.
    3. Upregulation of GPR133 expression impaired the phagocytosis of macrophages in recurrent spontaneous miscarriage.
      Title: Upregulation of GPR133 expression impaired the phagocytosis of macrophages in recurrent spontaneous miscarriage.
    4. ADGRD1 as a Potential Prognostic and Immunological Biomarker in Non-Small-Cell Lung Cancer.
      Title: ADGRD1 as a Potential Prognostic and Immunological Biomarker in Non-Small-Cell Lung Cancer.
    5. N(6) -methyladenosine (m(6) A) RNA modification of G protein-coupled receptor 133 increases proliferation of lung adenocarcinoma.
      Title: N(6) -methyladenosine (m(6) A) RNA modification of G protein-coupled receptor 133 increases proliferation of lung adenocarcinoma.
    6. The results show that a broad spectrum of functionally relevant ADGRD1 variants is present in the human population which may cause clinically relevant phenotypes, while being compatible with life when heterozygous.
      Title: Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133).
    7. Cell adhesion receptor GPR133 couples to Gs protein
      Title: Cell adhesion receptor GPR133 couples to Gs protein.
    8. 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.
    9. A role for GPR133 protein in affecting the length of the electrocardiographic RR interval and heart rate.
      Title: A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
    10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
    EBI GWAS Catalog
    Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Joint influence of small-effect genetic variants on human longevity.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Expression of HIV-1 Tat downregulates the abundance of G protein-coupled receptor 133 (GPR133) in the nucleoli of Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • FLJ16770, MGC138512, MGC138514, DKFZp434B1272

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell surface receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    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
    		 PubMed 

    General protein information

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    Preferred Names
    adhesion G-protein coupled receptor D1
    Names
    G-protein coupled receptor 133
    G-protein coupled receptor PGR25
    probable G-protein coupled receptor 133

    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_001330497.2 → NP_001317426.1  adhesion G-protein coupled receptor D1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is longer but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC078925, AK131538, AL162032, AY532280, BC112309, BC143775, BQ028954, DA520615, EU523118
      Consensus CDS
      CCDS81753.1
      UniProtKB/Swiss-Prot
      Q6QNK2
      UniProtKB/TrEMBL
      Q9NSM3
      Related
      ENSP00000444425.1, ENST00000535015.5

    2. NM_198827.5 → NP_942122.2  adhesion G-protein coupled receptor D1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_942122.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AC078925, AK131538, AL162032, AY532280, BC112307, BC112309, BQ028954, DA520615, EU523118
      Consensus CDS
      CCDS9272.1
      UniProtKB/Swiss-Prot
      B2CKK9, B7ZLF7, Q2M1L3, Q6QNK2, Q6ZMQ1, Q7Z7M2, Q86SM4
      Related
      ENSP00000261654.5, ENST00000261654.10
      Conserved Domains (3) summary
      pfam01825
      Location:510 → 550
      GPS; GPCR proteolysis site, GPS, motif
      pfam13385
      Location:138 → 241
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl21561
      Location:566 → 802
      7tm_4; Olfactory receptor

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      130953907..131141469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538204.2 → XP_011536506.1  adhesion G-protein coupled receptor D1 isoform X1

      Conserved Domains (3) summary
      pfam01825
      Location:542 → 582
      GPS; GPCR proteolysis site, GPS, motif
      pfam13385
      Location:170 → 273
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl21561
      Location:598 → 834
      7tm_4; Olfactory receptor

    2. XM_011538206.2 → XP_011536508.1  adhesion G-protein coupled receptor D1 isoform X3

      Conserved Domains (3) summary
      pfam01825
      Location:542 → 582
      GPS; GPCR proteolysis site, GPS, motif
      pfam13385
      Location:170 → 273
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl21561
      Location:583 → 762
      7tm_4; Olfactory receptor

    3. XM_011538209.2 → XP_011536511.1  adhesion G-protein coupled receptor D1 isoform X8

      Conserved Domains (3) summary
      pfam01825
      Location:542 → 582
      GPS; GPCR proteolysis site, GPS, motif
      pfam13385
      Location:170 → 273
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl21561
      Location:590 → 666
      7tm_4; Olfactory receptor

    4. XM_011538205.2 → XP_011536507.1  adhesion G-protein coupled receptor D1 isoform X2

      Conserved Domains (3) summary
      pfam01825
      Location:482 → 522
      GPS; GPCR proteolysis site, GPS, motif
      pfam13385
      Location:139 → 213
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl21561
      Location:538 → 774
      7tm_4; Olfactory receptor

    5. XM_011538208.2 → XP_011536510.1  adhesion G-protein coupled receptor D1 isoform X7

      Conserved Domains (2) summary
      pfam01825
      Location:397 → 437
      GPS; GPCR proteolysis site, GPS, motif
      cl21561
      Location:453 → 689
      7tm_4; Olfactory receptor

    6. XM_005253566.2 → XP_005253623.1  adhesion G-protein coupled receptor D1 isoform X4

      Conserved Domains (3) summary
      pfam01825
      Location:450 → 490
      GPS; GPCR proteolysis site, GPS, motif
      pfam13385
      Location:107 → 181
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl21561
      Location:506 → 742
      7tm_4; Olfactory receptor

    7. XM_047428719.1 → XP_047284675.1  adhesion G-protein coupled receptor D1 isoform X10

    8. XM_047428718.1 → XP_047284674.1  adhesion G-protein coupled receptor D1 isoform X9

    9. XM_011538207.2 → XP_011536509.1  adhesion G-protein coupled receptor D1 isoform X5

      Conserved Domains (3) summary
      pfam01825
      Location:542 → 582
      GPS; GPCR proteolysis site, GPS, motif
      pfam13385
      Location:170 → 273
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily
      cl21561
      Location:598 → 769
      7tm_4; Olfactory receptor

    10. XM_047428717.1 → XP_047284673.1  adhesion G-protein coupled receptor D1 isoform X6

    11. XM_011538210.3 → XP_011536512.1  adhesion G-protein coupled receptor D1 isoform X11

      Conserved Domains (2) summary
      pfam01825
      Location:542 → 582
      GPS; GPCR proteolysis site, GPS, motif
      pfam13385
      Location:170 → 273
      Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

    12. XM_047428720.1 → XP_047284676.1  adhesion G-protein coupled receptor D1 isoform X12

    13. XM_011538211.3 → XP_011536513.1  adhesion G-protein coupled receptor D1 isoform X13

      Conserved Domains (2) summary
      pfam01825
      Location:206 → 246
      GPS; GPCR proteolysis site, GPS, motif
      cl21561
      Location:262 → 498
      7tm_4; Olfactory receptor

    14. XM_011538212.2 → XP_011536514.1  adhesion G-protein coupled receptor D1 isoform X14

      Related
      ENST00000376682.8
      Conserved Domains (2) summary
      pfam01825
      Location:132 → 172
      GPS; GPCR proteolysis site, GPS, motif
      cl21561
      Location:188 → 424
      7tm_4; Olfactory receptor

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      130993251..131181371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371788.1 → XP_054227763.1  adhesion G-protein coupled receptor D1 isoform X1

    2. XM_054371790.1 → XP_054227765.1  adhesion G-protein coupled receptor D1 isoform X3

    3. XM_054371795.1 → XP_054227770.1  adhesion G-protein coupled receptor D1 isoform X8

    4. XM_054371789.1 → XP_054227764.1  adhesion G-protein coupled receptor D1 isoform X2

    5. XM_054371794.1 → XP_054227769.1  adhesion G-protein coupled receptor D1 isoform X7

    6. XM_054371791.1 → XP_054227766.1  adhesion G-protein coupled receptor D1 isoform X4

    7. XM_054371797.1 → XP_054227772.1  adhesion G-protein coupled receptor D1 isoform X10

    8. XM_054371796.1 → XP_054227771.1  adhesion G-protein coupled receptor D1 isoform X9

    9. XM_054371792.1 → XP_054227767.1  adhesion G-protein coupled receptor D1 isoform X5

    10. XM_054371793.1 → XP_054227768.1  adhesion G-protein coupled receptor D1 isoform X6

    11. XM_054371799.1 → XP_054227774.1  adhesion G-protein coupled receptor D1 isoform X12

    12. XM_054371798.1 → XP_054227773.1  adhesion G-protein coupled receptor D1 isoform X11

    13. XM_054371800.1 → XP_054227775.1  adhesion G-protein coupled receptor D1 isoform X13

    14. XM_054371801.1 → XP_054227776.1  adhesion G-protein coupled receptor D1 isoform X14

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6QNK2.1 GenPept UniProtKB/Swiss-Prot:Q6QNK2

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