1. Gene
  2. ADGRG1 - adhesion G protein-coupled receptor G1 Gene

ADGRG1 - adhesion G protein-coupled receptor G1 Gene

Homo sapiens

Also known as BFPP; BPPR; GPR56; TM7LN4; TM7XN1

Gene ID: 9289 | Gene type: protein coding

About ADGRG1

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:57,619,738-57,665,567 (from NCBI)

This gene has 79 transcripts (splice variants), 123 orthologues, 42 paralogues and is associated with 5 phenotypes. Broad expression in thyroid (RPKM 64.7), brain (RPKM 53.2) and 20 other tissues.

Summary

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]

ADGRG1 Products(29)

mRNA Protein Name
NM_001145770.3 NP_001139242.1 adhesion G-protein coupled receptor G1 isoform b precursor
NM_001145771.3 NP_001139243.1 adhesion G-protein coupled receptor G1 isoform a precursor
NM_001145772.3 NP_001139244.1 adhesion G-protein coupled receptor G1 isoform b precursor
NM_001145773.3 NP_001139245.1 adhesion G-protein coupled receptor G1 isoform c precursor
NM_001145774.3 NP_001139246.1 adhesion G-protein coupled receptor G1 isoform b precursor
NM_001290142.2 NP_001277071.1 adhesion G-protein coupled receptor G1 isoform d precursor
NM_001290143.2 NP_001277072.1 adhesion G-protein coupled receptor G1 isoform e
NM_001290144.2 NP_001277073.1 adhesion G-protein coupled receptor G1 isoform f
NM_001370428.1 NP_001357357.1 adhesion G-protein coupled receptor G1 isoform a precursor
NM_001370429.1 NP_001357358.1 adhesion G-protein coupled receptor G1 isoform a precursor
NM_001370430.1 NP_001357359.1 adhesion G-protein coupled receptor G1 isoform a precursor
NM_001370431.1 NP_001357360.1 adhesion G-protein coupled receptor G1 isoform a precursor
NM_001370432.1 NP_001357361.1 adhesion G-protein coupled receptor G1 isoform a precursor
NM_001370433.1 NP_001357362.1 adhesion G-protein coupled receptor G1 isoform c precursor
NM_001370434.1 NP_001357363.1 adhesion G-protein coupled receptor G1 isoform i precursor
NM_001370435.1 NP_001357364.1 adhesion G-protein coupled receptor G1 isoform b precursor
NM_001370436.1 NP_001357365.1 adhesion G-protein coupled receptor G1 isoform b precursor
NM_001370437.1 NP_001357366.1 adhesion G-protein coupled receptor G1 isoform b precursor
NM_001370438.1 NP_001357367.1 adhesion G-protein coupled receptor G1 isoform b precursor
NM_001370439.1 NP_001357368.1 adhesion G-protein coupled receptor G1 isoform b precursor
NM_001370440.1 NP_001357369.1 adhesion G-protein coupled receptor G1 isoform b precursor
NM_001370441.1 NP_001357370.1 adhesion G-protein coupled receptor G1 isoform g precursor
NM_001370442.1 NP_001357371.1 adhesion G-protein coupled receptor G1 isoform h precursor
NM_001370451.1 NP_001357380.1 adhesion G-protein coupled receptor G1 isoform f
NM_001370453.1 NP_001357382.1 adhesion G-protein coupled receptor G1 isoform f
NM_001370454.1 NP_001357383.1 adhesion G-protein coupled receptor G1 isoform f
NM_005682.7 NP_005673.3 adhesion G-protein coupled receptor G1 isoform a precursor
NM_201524.4 NP_958932.1 adhesion G-protein coupled receptor G1 isoform b precursor
NM_201525.4 NP_958933.1 adhesion G-protein coupled receptor G1 isoform b precursor
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables heparin binding IDA
IDA: Inferred from direct assay
27068534 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28258187 GOA
Biological Process GO Annotation Evidence Reference Source
involved in Rho protein signal transduction IDA
IDA: Inferred from direct assay
21708946 GOA
involved in angiogenesis IDA
IDA: Inferred from direct assay
21724588 GOA
involved in brain development IMP
IMP: Inferred from mutant phenotype
15044805 GOA
involved in cell adhesion IDA
IDA: Inferred from direct assay
27068534 GOA
involved in cell migration IDA
IDA: Inferred from direct assay
27068534 GOA
involved in negative regulation of cell population proliferation IDA
IDA: Inferred from direct assay
16757564 GOA
involved in phospholipase C-activating G protein-coupled receptor signaling pathway IDA
IDA: Inferred from direct assay
21724588 GOA
involved in positive regulation of cell adhesion IDA
IDA: Inferred from direct assay
21349848 GOA
involved in positive regulation of vascular endothelial growth factor signaling pathway IDA
IDA: Inferred from direct assay
21724588 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADGRG1 Protein Structure

GPS

GPS: GPCR proteolysis site, GPS, motif (343 - 389)

7tm_2

7tm_2: 7 transmembrane receptor (Secretin family) (403 - 654)

  • 0
  • 200
  • 400
  • 600
  • 693 a.a.
Protein Preferred Names Protein Names

adhesion G-protein coupled receptor G1

7-transmembrane protein with no EGF-like N-terminal domains-1

Recombinant ADGRG1 Proteins

Cat. No. Product Name Accession Purity
HY-P75796 GPR56 Protein, Human (HEK293, His) Q9Y653-2/NP_958933.1 (R26-V342) ≥95%

Related Diseases

Diseases Alias
Polymicrogyria, Bilateral Frontoparietal

Bilateral Frontoparietal Polymicrogyria

BFPP

Cerebellar Ataxia With Neuronal Migration Defect

Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive

BPPR

Pmgr

Polymicrogyria, Bilateral Perisylvian

Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria

Polymicrogyria, Bilateral Perisylvian

Pmgx

Perisylvian Syndrome, Congenital Bilateral

Cbps

Congenital Bilateral Perisylvian Syndrome

Perisylvian Syndrome

BPPX

Bpp

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Polymicrogyria

Pmg

Bilateral Frontal Polymicrogyria
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Vibratory Urticaria

Vibratory Angioedema

Dermodistortive Urticaria

VBU

Ddu

Angioedema, Vibratory

Bilateral Generalized Polymicrogyria

Bilateral Generalised Polymicrogyria

Tubulinopathy

Tubulinopathies

Aicardi Syndrome

AIC

Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality

Agenesis Of Corpus Callosum With Chorioretinal Abnormality

Aicardi'S Syndrome

Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities

Callosal Agenesis And Ocular Abnormalities

Chorioretinal Anomalies With Acc

Porencephaly
Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy

Physical Urticaria

Symptomatic Dermographism

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Usher Syndrome, Type Iic

Usher Syndrome Type 2c

USH2C

Usher Syndrome, Type 2c

Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic

Usher Syndrome Type Iic

Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic

Usher Syndrome 2c

Usher'S Syndrome Type 2c

Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus ADGRG1 VGNC VGNC:97236
Rattus norvegicus ADGRG1 RGD RGD:628617
Felis catus ADGRG1 VGNC VGNC:67434
Canis familiaris ADGRG1 VGNC VGNC:37643
Mus musculus ADGRG1 MGD MGI:1340051
Macaca mulatta ADGRG1 VGNC VGNC:99482
Others ADGRG1 NCBI