ADGRG1

Protein identityUniProt · HPA

UniProt accession

Q9Y653

Gene

ADGRG1

Ensembl

ENSG00000205336

Chromosome

16

Canonical length

693 aa

Protein class

Disease related genes, G-protein coupled receptors, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Predicted secreted proteins

Secretome location

Secreted to blood

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

693 residues, UniProt reviewed canonical sequence.

>Q9Y653|ADGRG1
     1  MTPQSLLQTT LFLLSLLFLV QGAHGRGHRE DFRFCSQRNQ THRSSLHYKP TPDLRISIEN
    61  SEEALTVHAP FPAAHPASRS FPDPRGLYHF CLYWNRHAGR LHLLYGKRDF LLSDKASSLL
   121  CFQHQEESLA QGPPLLATSV TSWWSPQNIS LPSAASFTFS FHSPPHTAAH NASVDMCELK
   181  RDLQLLSQFL KHPQKASRRP SAAPASQQLQ SLESKLTSVR FMGDMVSFEE DRINATVWKL
   241  QPTAGLQDLH IHSRQEEEQS EIMEYSVLLP RTLFQRTKGR SGEAEKRLLL VDFSSQALFQ
   301  DKNSSQVLGE KVLGIVVQNT KVANLTEPVV LTFQHQLQPK NVTLQCVFWV EDPTLSSPGH
   361  WSSAGCETVR RETQTSCFCN HLTYFAVLMV SSVEVDAVHK HYLSLLSYVG CVVSALACLV
   421  TIAAYLCSRV PLPCRRKPRD YTIKVHMNLL LAVFLLDTSF LLSEPVALTG SEAGCRASAI
   481  FLHFSLLTCL SWMGLEGYNL YRLVVEVFGT YVPGYLLKLS AMGWGFPIFL VTLVALVDVD
   541  NYGPIILAVH RTPEGVIYPS MCWIRDSLVS YITNLGLFSL VFLFNMAMLA TMVVQILRLR
   601  PHTQKWSHVL TLLGLSLVLG LPWALIFFSF ASGTFQLVVL YLFSIITSFQ GFLIFIWYWS
   661  MRLQARGGPS PLKSNSDSAR LPISSGSTSS SRI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ADGRG1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

7

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

202 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ADGRG1.

Disease | AllUniProt

Conditions ADGRG1 is implicated in, by any mechanism.

• Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal) (CDCBM14A) MIM:606854
• Cortical dysplasia, complex, with other brain malformations 14B (bilateral perisylvian) (CDCBM14B) MIM:615752

Disease | GeneticClinVar

127 pathogenic / likely-pathogenic of 1,123 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Bilateral frontoparietal polymicrogyria
• Polymicrogyria, bilateral perisylvian, autosomal recessive
• Inborn genetic diseases
• 7 conditions
• Abnormal cerebral morphology

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.89

gnomAD pLI

0

DepMap mean gene effect

0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• angiogenesis
• brain development
• cell adhesion
• cell migration
• cell surface receptor signaling pathway
• cell-cell signaling
• cerebral cortex radial glia-guided migration
• cerebral cortex regionalization
• G protein-coupled receptor signaling pathway
• hematopoietic stem cell homeostasis
• layer formation in cerebral cortex
• negative regulation of cell population proliferation
• negative regulation of ferroptosis
• negative regulation of neuron migration
• neural precursor cell proliferation
• phospholipase C-activating G protein-coupled receptor signaling pathway
• positive regulation of cell adhesion
• positive regulation of neural precursor cell proliferation
• positive regulation of Rho protein signal transduction
• positive regulation of vascular endothelial growth factor signaling pathway
• regulation of platelet aggregation
• Rho protein signal transduction
• Rho-activating G protein-coupled receptor signaling pathway
• seminiferous tubule development

Molecular functions

• collagen binding
• extracellular matrix binding
• G protein-coupled receptor activity
• heparin binding

Cellular components

• extracellular exosome
• glial limiting end-foot
• membrane
• membrane raft
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• GPS motif
• GPCR, family 2, secretin-like
• GPCR, family 2, orphan receptor, GPR1/GPR3/GPR5
• GPCR, family 2-like, 7TM
• GAIN domain superfamily
• GAIN, subdomain B
• 7 transmembrane receptor (Secretin family)
• GPCR proteolysis site, GPS, motif
• PTX/LNS-Like (PLL) domain
• ADGRG1, GAIN subdomain A
• PTX/LNS-Like (PLL) domain
• GPCR-Autoproteolysis-INducing (GAIN) subdomain A

KeywordsUniProt

• Cell adhesion
• Cell membrane
• Developmental protein
• Differentiation
• Disulfide bond
• G-protein coupled receptor
• Glycoprotein
• Heparin-binding
• Membrane
• Neurogenesis
• Receptor
• Secreted
• Signal
• Transducer
• Transmembrane
• Transmembrane helix
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of ADGRG1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COL3A1
• TGM2