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Aliases for ADGRD1 Gene

Aliases for ADGRD1 Gene

  • Adhesion G Protein-Coupled Receptor D1 2 3 5
  • G-Protein Coupled Receptor PGR25 3 4
  • G-Protein Coupled Receptor 133 3 4
  • GPR133 3 4
  • PGR25 3 4
  • Probable G-Protein Coupled Receptor 133 3
  • Adhesion G-Protein Coupled Receptor D1 3
  • G Protein-Coupled Receptor 133 2

External Ids for ADGRD1 Gene

Previous HGNC Symbols for ADGRD1 Gene

  • GPR133

Summaries for ADGRD1 Gene

Entrez Gene Summary for ADGRD1 Gene

  • 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]

GeneCards Summary for ADGRD1 Gene

ADGRD1 (Adhesion G Protein-Coupled Receptor D1) is a Protein Coding gene. Diseases associated with ADGRD1 include Glioblastoma. Among its related pathways are GPCRs, Other. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is ADGRL3.

UniProtKB/Swiss-Prot for ADGRD1 Gene

  • Orphan receptor. Signals via G(s)-alpha family of G-proteins (PubMed:22025619, PubMed:22575658). Has protumorigenic function especially in glioblastoma (PubMed:27775701).

Gene Wiki entry for ADGRD1 Gene

Additional gene information for ADGRD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADGRD1 Gene

Genomics for ADGRD1 Gene

GeneHancer (GH) Regulatory Elements for ADGRD1 Gene

Promoters and enhancers for ADGRD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J130950 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 -1.0 -964 4.1 ATF1 PKNOX1 SMAD1 YY1 TCF12 ZNF766 GATA2 ZNF143 ATF7 RXRA ADGRD1 ENSG00000206850
GH12J131027 Enhancer 0.8 FANTOM5 ENCODE 15.9 +74.8 74833 1.6 ZNF687 FOXA2 FOXA1 SP1 CUX1 FOS HNF4A FOSL2 ENSG00000279993 ADGRD1 ADGRD1-AS1 ENSG00000256810 GC12P130991
GH12J130978 Enhancer 1.1 Ensembl ENCODE 11.3 +28.2 28231 6.4 HDGF PKNOX1 FOXA2 ARID4B FEZF1 ATF7 RUNX3 PPARG MEF2D NFIL3 ENSG00000279581 ADGRD1 ADGRD1-AS1 ENSG00000256204 GC12P130978 ENSG00000280002
GH12J131012 Enhancer 0.9 ENCODE 11 +58.7 58656 1.6 FOXA2 MLX ARID4B ETS1 YY1 TCF12 ATF7 NFKBIZ RXRA SP5 ADGRD1 ENSG00000256204 ENSG00000279128 ADGRD1-AS1 GC12P130991
GH12J130986 Enhancer 0.6 ENCODE 16.4 +34.2 34217 3.6 DRAP1 SOX5 SOX13 TFAP4 SAP130 FOXA3 NFIL3 HNF1A POLR2A SCRT2 ENSG00000280002 ADGRD1 ADGRD1-AS1 ENSG00000279581
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADGRD1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ADGRD1 Gene

Genomic Locations for ADGRD1 Gene
chr12:130,953,907-131,141,469
(GRCh38/hg38)
Size:
187,563 bases
Orientation:
Plus strand
chr12:131,438,452-131,626,014
(GRCh37/hg19)
Size:
187,563 bases
Orientation:
Plus strand

Genomic View for ADGRD1 Gene

Genes around ADGRD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADGRD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADGRD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADGRD1 Gene

Proteins for ADGRD1 Gene

  • Protein details for ADGRD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6QNK2-AGRD1_HUMAN
    Recommended name:
    Adhesion G-protein coupled receptor D1
    Protein Accession:
    Q6QNK2
    Secondary Accessions:
    • B2CKK9
    • B7ZLF7
    • Q2M1L3
    • Q6ZMQ1
    • Q7Z7M2
    • Q86SM4

    Protein attributes for ADGRD1 Gene

    Size:
    874 amino acids
    Molecular mass:
    96530 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADGRD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADGRD1 Gene

Post-translational modifications for ADGRD1 Gene

  • Glycosylation at Asn533, posLast=501501, Asn476, posLast=394394, posLast=319319, posLast=302302, posLast=282282, posLast=185185, and posLast=9090
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ADGRD1 Gene

Domains & Families for ADGRD1 Gene

Gene Families for ADGRD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ADGRD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6QNK2

UniProtKB/Swiss-Prot:

AGRD1_HUMAN :
  • A short peptide sequence (termed the Stachel sequence) in the C-terminal part of the extracellular domain (ECD) functions as a tethered agonist. Upon structural changes within the ECD, e.g. due to extracellular ligand binding or mechanical movements, this intramolecular agonist is exposed to the 7 transmembrane region, triggering G-protein activation.
  • Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
Domain:
  • A short peptide sequence (termed the Stachel sequence) in the C-terminal part of the extracellular domain (ECD) functions as a tethered agonist. Upon structural changes within the ECD, e.g. due to extracellular ligand binding or mechanical movements, this intramolecular agonist is exposed to the 7 transmembrane region, triggering G-protein activation.
  • The N-terminal domain and autocatalytic activity of ADGRD1 at the GPCR proteolysis site (GPS) are not required for G-protein coupling activity.
Family:
  • Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
genes like me logo Genes that share domains with ADGRD1: view

Function for ADGRD1 Gene

Molecular function for ADGRD1 Gene

UniProtKB/Swiss-Prot Function:
Orphan receptor. Signals via G(s)-alpha family of G-proteins (PubMed:22025619, PubMed:22575658). Has protumorigenic function especially in glioblastoma (PubMed:27775701).
UniProtKB/Swiss-Prot Induction:
Up-regulated by hypoxia in hypoxia-inducible factor 1-alpha (HIF1A)-dependent manner.

Phenotypes From GWAS Catalog for ADGRD1 Gene

Gene Ontology (GO) - Molecular Function for ADGRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity IDA,TAS 22025619
genes like me logo Genes that share ontologies with ADGRD1: view
genes like me logo Genes that share phenotypes with ADGRD1: view

Animal Models for ADGRD1 Gene

MGI Knock Outs for ADGRD1:
  • Adgrd1 Adgrd1<tm1b(EUCOMM)Wtsi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ADGRD1 Gene

Localization for ADGRD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADGRD1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADGRD1 gene
Compartment Confidence
plasma membrane 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADGRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA,IDA 22025619
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS --
genes like me logo Genes that share ontologies with ADGRD1: view

Pathways & Interactions for ADGRD1 Gene

SuperPathways for ADGRD1 Gene

SuperPathway Contained pathways
1 GPCRs, Other
genes like me logo Genes that share pathways with ADGRD1: view

Pathways by source for ADGRD1 Gene

1 BioSystems pathway for ADGRD1 Gene

Interacting Proteins for ADGRD1 Gene

Gene Ontology (GO) - Biological Process for ADGRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS,IDA 22025619
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway IDA 22025619
genes like me logo Genes that share ontologies with ADGRD1: view

No data available for SIGNOR curated interactions for ADGRD1 Gene

Drugs & Compounds for ADGRD1 Gene

(2) Drugs for ADGRD1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gestodene Approved, Investigational Pharma Target 22
Onapristone Investigational Pharma Antagonist, Inverse agonist, Target 2
genes like me logo Genes that share compounds with ADGRD1: view

Transcripts for ADGRD1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADGRD1 Gene

No ASD Table

Relevant External Links for ADGRD1 Gene

GeneLoc Exon Structure for
ADGRD1
ECgene alternative splicing isoforms for
ADGRD1

Expression for ADGRD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADGRD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADGRD1 Gene

This gene is overexpressed in Liver (38.6), Heart (12.9), and Kidney (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADGRD1 Gene



Protein tissue co-expression partners for ADGRD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADGRD1 Gene:

ADGRD1

mRNA Expression by UniProt/SwissProt for ADGRD1 Gene:

Q6QNK2-AGRD1_HUMAN
Tissue specificity: Up-regulated in CD133(+) cell population of glioblastoma.

Evidence on tissue expression from TISSUES for ADGRD1 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with ADGRD1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADGRD1 Gene

Orthologs for ADGRD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADGRD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPR133 33
  • 99.13 (n)
cow
(Bos Taurus)
Mammalia GPR133 34 33
  • 84.02 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GPR133 34 33
  • 81.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gpr133 33
  • 79.27 (n)
mouse
(Mus musculus)
Mammalia Gpr133 34 33
  • 78.95 (n)
OneToOne
Adgrd1 16
platypus
(Ornithorhynchus anatinus)
Mammalia GPR133 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GPR133 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPR133 34 33
  • 68.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 6 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gpr133 33
  • 63.43 (n)
zebrafish
(Danio rerio)
Actinopterygii gpr133 33
  • 62 (n)
BX649292.1 34
  • 36 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Cirl 34
  • 9 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lat-2 34
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 15 (a)
ManyToMany
Species where no ortholog for ADGRD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADGRD1 Gene

ENSEMBL:
Gene Tree for ADGRD1 (if available)
TreeFam:
Gene Tree for ADGRD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADGRD1: view image

Paralogs for ADGRD1 Gene

Paralogs for ADGRD1 Gene

Pseudogenes.org Pseudogenes for ADGRD1 Gene

genes like me logo Genes that share paralogs with ADGRD1: view

Variants for ADGRD1 Gene

Sequence variations from dbSNP and Humsavar for ADGRD1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000013637 -- 131,093,050(+) C/A genic_downstream_transcript_variant, intron_variant
rs1000039402 -- 130,990,328(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000062474 -- 131,057,381(+) C/T intron_variant
rs1000081860 -- 131,051,298(+) C/G intron_variant
rs1000083750 -- 130,996,090(+) G/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ADGRD1 Gene

Variant ID Type Subtype PubMed ID
nsv975539 CNV duplication 23825009
nsv940 CNV insertion 18451855
nsv820623 CNV duplication 20802225
nsv819999 CNV gain 19587683
nsv560769 CNV gain 21841781
nsv519628 CNV loss 19592680
nsv517271 CNV gain+loss 19592680
nsv477666 CNV novel sequence insertion 20440878
nsv1145888 CNV deletion 26484159
nsv1144664 CNV deletion 24896259
nsv1141387 CNV deletion 24896259
nsv1134280 CNV deletion 24896259
nsv1124831 CNV deletion 24896259
nsv1110692 CNV insertion 24896259
nsv1049950 CNV gain 25217958
nsv1040328 CNV gain 25217958
nsv1038008 CNV gain 25217958
esv991215 CNV deletion 20482838
esv990308 CNV deletion 20482838
esv3892282 CNV gain 25118596
esv3631225 CNV gain 21293372
esv3631223 CNV gain 21293372
esv3631222 CNV gain 21293372
esv3631220 CNV loss 21293372
esv3631218 CNV gain 21293372
esv3631216 CNV gain 21293372
esv3631215 CNV gain 21293372
esv3550039 CNV deletion 23714750
esv3424598 CNV insertion 20981092
esv27579 CNV loss 19812545
esv2746824 CNV deletion 23290073
esv2746823 CNV deletion 23290073
esv2746822 CNV deletion 23290073
esv2746821 CNV deletion 23290073
esv2746820 CNV deletion 23290073
esv2746818 CNV deletion 23290073
esv2746817 CNV deletion 23290073
esv2746815 CNV deletion 23290073
esv2746814 CNV deletion 23290073
esv2746813 CNV deletion 23290073
esv2746812 CNV deletion 23290073
esv2746811 CNV deletion 23290073
esv2746810 CNV deletion 23290073
esv2746809 CNV deletion 23290073
esv2746806 CNV deletion 23290073
esv2746805 CNV deletion 23290073
esv2746804 CNV deletion 23290073
esv2746803 CNV deletion 23290073
esv2746802 CNV deletion 23290073
esv2743283 CNV deletion 23290073
esv2741756 CNV deletion 23290073
esv2676329 CNV deletion 23128226
esv2672456 CNV deletion 23128226
esv2656903 CNV deletion 23128226
esv24528 CNV loss 19812545
esv24428 CNV gain 19812545
esv23678 CNV gain 19812545
esv1383526 CNV deletion 17803354
esv1370689 CNV insertion 17803354
esv1356063 CNV deletion 17803354
esv1323340 CNV deletion 17803354
esv1279743 CNV insertion 17803354
esv1249867 CNV deletion 17803354
esv1092985 CNV insertion 17803354
esv1006538 CNV insertion 20482838
esv1004799 CNV deletion 20482838
dgv9e196 CNV deletion 17116639
dgv942e59 CNV duplication 20981092
dgv92e215 CNV deletion 23714750
dgv530e212 CNV gain 25503493
dgv314e214 CNV loss 21293372
dgv213e201 CNV deletion 23290073
dgv1580n100 CNV gain 25217958

Variation tolerance for ADGRD1 Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.51; 71.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADGRD1 Gene

Human Gene Mutation Database (HGMD)
ADGRD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADGRD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADGRD1 Gene

Disorders for ADGRD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADGRD1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
glioblastoma
  • glioblastoma multiforme
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADGRD1

genes like me logo Genes that share disorders with ADGRD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADGRD1 Gene

Publications for ADGRD1 Gene

  1. International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. (PMID: 25713288) Hamann J … Schiöth HB (Pharmacological reviews 2015) 2 3 4 58
  2. Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133). (PMID: 27516204) Fischer L … Liebscher I (BMC genomics 2016) 3 4 58
  3. A tethered agonist within the ectodomain activates the adhesion G protein-coupled receptors GPR126 and GPR133. (PMID: 25533341) Liebscher I … Schöneberg T (Cell reports 2014) 3 4 58
  4. Cell adhesion receptor GPR133 couples to Gs protein. (PMID: 22025619) Bohnekamp J … Schöneberg T (The Journal of biological chemistry 2011) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ADGRD1 Gene

Sources for ADGRD1 Gene

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