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Aliases for ADGRG1 Gene

Aliases for ADGRG1 Gene

  • Adhesion G Protein-Coupled Receptor G1 2 3 5
  • G Protein-Coupled Receptor 56 2 3
  • TM7LN4 3 4
  • TM7XN1 3 4
  • GPR56 3 4
  • 7-Transmembrane Protein With No EGF-Like N-Terminal Domains-1 3
  • Testicular Tissue Protein Li 77 3
  • Protein TM7XN1 4
  • BFPP 3
  • BPPR 3

External Ids for ADGRG1 Gene

Previous HGNC Symbols for ADGRG1 Gene

  • GPR56

Summaries for ADGRG1 Gene

Entrez Gene Summary for ADGRG1 Gene

  • This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

GeneCards Summary for ADGRG1 Gene

ADGRG1 (Adhesion G Protein-Coupled Receptor G1) is a Protein Coding gene. Diseases associated with ADGRG1 include polymicrogyria, bilateral frontoparietal and polymicrogyria, bilateral perisylvian. Among its related pathways are GPCRs, Other. GO annotations related to this gene include G-protein coupled receptor activity and collagen binding. An important paralog of this gene is ADGRG5.

UniProtKB/Swiss-Prot for ADGRG1 Gene

  • Involved in cell adhesion and probably in cell-cell interactions. Regulates the migration of neural precursor cells. Receptor for collagen III/COL3A1 in the developing brain and involved in regulation of cortical development, specifically in maintenance of the pial basemant membrane integrity and in cortical lamination. Binding to the COL3A1 ligand inhibits neuronal migration and activates the RhoA pathway by coupling to GNA13 and possibly GNA12. Isoforms show differences in receptor signaling, specifically in serum response element (SRE) transcriptional activation upon overexpression. Overexpression inhibits melanoma tumor growth and metastasis and, during melanoma progression, regulates VEGFA production and angiogenesis through PRKCA; unprocessed GPR56 is inhibiting and GPR56 NT is activating angiogenesis. Required for normal cortical development and regulation of neuroprogenitor cells proliferation.

Gene Wiki entry for ADGRG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADGRG1 Gene

Genomics for ADGRG1 Gene

Regulatory Elements for ADGRG1 Gene

Enhancers for ADGRG1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ADGRG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADGRG1 Gene

Chromosome:
16
Start:
57,610,652 bp from pter
End:
57,665,580 bp from pter
Size:
54,929 bases
Orientation:
Plus strand

Genomic View for ADGRG1 Gene

Genes around ADGRG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADGRG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADGRG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADGRG1 Gene

Proteins for ADGRG1 Gene

  • Protein details for ADGRG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y653-GPR56_HUMAN
    Recommended name:
    G-protein coupled receptor 56
    Protein Accession:
    Q9Y653
    Secondary Accessions:
    • A6NIT7
    • A6NJV9
    • B0M0K4
    • B4DR54
    • O95966
    • Q6ZMP1
    • Q8NGB3
    • Q96HB4

    Protein attributes for ADGRG1 Gene

    Size:
    693 amino acids
    Molecular mass:
    77738 Da
    Quaternary structure:
    • Predominantly non-covalently linked heterodimer of the N-terminal and the C-terminal fragment. GPR56 NT self-associates in a trans-trans manner; the homophilic interaction enhances receptor signaling. GPR56 CT interacts with ARRB2; the interaction is impaired by GPR56 NT. Interacts with TGM2; TGM2 probably is not a GPR56 ligand and the interaction is reported conflictingly (PubMed:16757564, PubMed:21349848). Part of a GPCR-tetraspanin complex at least consisting of GPR56, CD81, eventually CD9, and GNA11 in which CD81 is enhancing the association of GPR56 with GNA11.

    Alternative splice isoforms for ADGRG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADGRG1 Gene

Proteomics data for ADGRG1 Gene at MOPED

Post-translational modifications for ADGRG1 Gene

  • Autoproteolytically cleaved into 2 fragments; the large extracellular N-terminal fragment and the membrane-bound C-terminal fragment predominantly remain associated and non-covalently linked. Shedding to yield the secreted GPR56 N-terminal fragment seems to involve metalloprotease(s).
  • N-glycosylated. Contains sialic acid residues.
  • Ubiquitinated. Undergoes polyubiquitination upon activation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ADGRG1 Gene

Domains & Families for ADGRG1 Gene

Gene Families for ADGRG1 Gene

Suggested Antigen Peptide Sequences for ADGRG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y653

UniProtKB/Swiss-Prot:

GPR56_HUMAN :
  • Contains 1 GPS domain.
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
Domain:
  • Contains 1 GPS domain.
Family:
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
genes like me logo Genes that share domains with ADGRG1: view

Function for ADGRG1 Gene

Molecular function for ADGRG1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
GPR56 NT is proposed to inhibit receptor signaling; its interactions with extracellular ligands and /or homophilic GPR56 NT interactions may relieve the inhibition.
UniProtKB/Swiss-Prot Function:
Involved in cell adhesion and probably in cell-cell interactions. Regulates the migration of neural precursor cells. Receptor for collagen III/COL3A1 in the developing brain and involved in regulation of cortical development, specifically in maintenance of the pial basemant membrane integrity and in cortical lamination. Binding to the COL3A1 ligand inhibits neuronal migration and activates the RhoA pathway by coupling to GNA13 and possibly GNA12. Isoforms show differences in receptor signaling, specifically in serum response element (SRE) transcriptional activation upon overexpression. Overexpression inhibits melanoma tumor growth and metastasis and, during melanoma progression, regulates VEGFA production and angiogenesis through PRKCA; unprocessed GPR56 is inhibiting and GPR56 NT is activating angiogenesis. Required for normal cortical development and regulation of neuroprogenitor cells proliferation.

Gene Ontology (GO) - Molecular Function for ADGRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
genes like me logo Genes that share ontologies with ADGRG1: view
genes like me logo Genes that share phenotypes with ADGRG1: view

Human Phenotype Ontology for ADGRG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADGRG1 Gene

MGI Knock Outs for ADGRG1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADGRG1

miRNA for ADGRG1 Gene

miRTarBase miRNAs that target ADGRG1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ADGRG1 Gene

Localization for ADGRG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADGRG1 Gene

Cell membrane; Multi-pass membrane protein.
GPR56 N-terminal fragment: Secreted.

Gene Ontology (GO) - Cellular Components for ADGRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ADGRG1: view

No data available for Subcellular locations from COMPARTMENTS for ADGRG1 Gene

Pathways & Interactions for ADGRG1 Gene

SuperPathways for ADGRG1 Gene

Superpath Contained pathways
1 GPCRs, Other
genes like me logo Genes that share pathways with ADGRG1: view

Pathways by source for ADGRG1 Gene

1 BioSystems pathway for ADGRG1 Gene

Interacting Proteins for ADGRG1 Gene

Selected Interacting proteins: Q9Y653-GPR56_HUMAN for ADGRG1 Gene via I2D

Symbol External ID(s) Details
ARRB2

Gene Ontology (GO) - Biological Process for ADGRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IDA 21724588
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007266 Rho protein signal transduction IDA 21708946
GO:0007267 cell-cell signaling TAS 10049584
genes like me logo Genes that share ontologies with ADGRG1: view

No data available for SIGNOR curated interactions for ADGRG1 Gene

Drugs & Compounds for ADGRG1 Gene

No Compound Related Data Available

Transcripts for ADGRG1 Gene

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADGRG1 Gene

No ASD Table

Relevant External Links for ADGRG1 Gene

GeneLoc Exon Structure for
ADGRG1
ECgene alternative splicing isoforms for
ADGRG1

Expression for ADGRG1 Gene

mRNA expression in normal human tissues for ADGRG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADGRG1 Gene

This gene is overexpressed in Fetal Brain (16.5), Urine (12.1), and Breast (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADGRG1 Gene



mRNA Expression by UniProt/SwissProt for ADGRG1 Gene

Q9Y653-GPR56_HUMAN
Tissue specificity: Widely distributed with highest levels found in thyroid gland, brain and heart. Expressed in a great number of tumor cells. Expression is down-regulated in different tumors from highly metastatic cells.
genes like me logo Genes that share expression patterns with ADGRG1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ADGRG1 Gene

Orthologs for ADGRG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADGRG1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC509703 35
  • 89.11 (n)
  • 88.29 (a)
-- 36
  • 64 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Adgrg1 16
Gpr56 36
  • 79 (a)
OneToOne
Gpr56 35
  • 81.64 (n)
  • 80.09 (a)
dog
(Canis familiaris)
Mammalia GPR56 36
  • 73 (a)
OneToOne
GPR56 35
  • 86.66 (n)
  • 84.86 (a)
oppossum
(Monodelphis domestica)
Mammalia GPR56 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GPR56 36
  • 98 (a)
OneToOne
GPR56 35
  • 99.18 (n)
  • 98.54 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia GPR56 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gpr56 35
  • 81.34 (n)
  • 80.24 (a)
chicken
(Gallus gallus)
Aves GPR56 36
  • 44 (a)
OneToOne
GPR56 35
  • 59.82 (n)
  • 47.93 (a)
lizard
(Anolis carolinensis)
Reptilia GPR56 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpr56 35
  • 50.12 (n)
  • 39.47 (a)
zebrafish
(Danio rerio)
Actinopterygii gpr56 36
  • 24 (a)
OneToMany
Species with no ortholog for ADGRG1:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ADGRG1 Gene

ENSEMBL:
Gene Tree for ADGRG1 (if available)
TreeFam:
Gene Tree for ADGRG1 (if available)

Paralogs for ADGRG1 Gene

genes like me logo Genes that share paralogs with ADGRG1: view

Variants for ADGRG1 Gene

Sequence variations from dbSNP and Humsavar for ADGRG1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs3859051 -- 57,648,900(+) GGCCT(C/T)GGGAG intron-variant
rs3859052 -- 57,649,179(+) GACCC(C/T)GGGTA intron-variant
rs3859053 -- 57,649,215(-) AGGGC(A/G)CTTCC intron-variant
rs3916059 -- 57,637,994(+) TGGGG(A/G)TTCTA intron-variant, upstream-variant-2KB
rs4238794 -- 57,626,609(+) CTATG(C/T)GGCCA intron-variant, upstream-variant-2KB

Variation tolerance for ADGRG1 Gene

Residual Variation Intolerance Score: 13.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.79; 73.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADGRG1 Gene

HapMap Linkage Disequilibrium report
ADGRG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ADGRG1 Gene

Disorders for ADGRG1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ADGRG1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
polymicrogyria, bilateral frontoparietal
  • bilateral frontoparietal polymicrogyria
polymicrogyria, bilateral perisylvian
  • bilateral perisylvian polymicrogyria
polymicrogyria
  • pmg
neuronal migration disorders
  • malformations of cortical development, group ii
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GPR56_HUMAN
  • Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]: A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination, most severe in the frontoparietal regions. BFPP clinical manifestations include developmental and psychomotor delay, cerebellar and pyramidal signs, truncal ataxia, seizures, hyperreflexia. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. {ECO:0000269 PubMed:15044805, ECO:0000269 PubMed:16240336, ECO:0000269 PubMed:21723461}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Polymicrogyria, bilateral perisylvian, autosomal recessive (BPPR) [MIM:615752]: A form of polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. BPPR is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability. Polymicrogyria is a heterogeneous disorder, considered to be the result of post-migratory abnormal cortical organization. {ECO:0000269 PubMed:24531968}. Note=The disease is caused by mutations affecting the gene represented in this entry. Homozygous deletion of 1 of 2 tandem 15-bp repeats located 144 bp upstream of the GPR56 non-coding exon 1m transcription start site, results in impaired perisylvian GPR56 expression and disruption of perisylvian gyri (PubMed:24531968). {ECO:0000269 PubMed:24531968}.

Relevant External Links for ADGRG1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADGRG1
genes like me logo Genes that share disorders with ADGRG1: view

No data available for Genatlas for ADGRG1 Gene

Publications for ADGRG1 Gene

  1. TM7XN1, a novel human EGF-TM7 like protein, detected with mRNA differential display using human melanoma cell lines with different metastatic potential. (PMID: 10100861) Zendman A.J.W. … van Muijen G.N.P. (FEBS Lett. 1999) 2 3 4 67
  2. International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. (PMID: 25713288) Hamann J. … SchiAPth H.B. (Pharmacol. Rev. 2015) 2 3
  3. Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. (PMID: 19016831) Parrini E. … Guerrini R. (Epilepsia 2009) 3 23
  4. Differential expression of G-protein coupled receptor 56 in human esophageal squamous cell carcinoma. (PMID: 15916848) Sud N. … Ralhan R. (Cancer Lett. 2006) 3 23
  5. GPR56 is a GPCR that is overexpressed in gliomas and functions in tumor cell adhesion. (PMID: 15674329) Shashidhar S. … Foehr E.D. (Oncogene 2005) 3 23

Products for ADGRG1 Gene

Sources for ADGRG1 Gene

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