ADGRG1 - adhesion G protein-coupled receptor G1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9289

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
Molecular Function GO Annotation Evidence References 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 References 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) ≥ 90%, as determined by reducing SDS-PAGE.

ADGRG1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P84901 GPR56 Antibody (YA4598) IHC-P, FC, ELISA Human
HY-P84901A GPR56 Antibody (YA4598)(PBS only) IHC-P, FC, ELISA Human
HY-P85014 GPR56 Antibody (YA4706) ELISA, FC Human

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