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

ADGRG1 - adhesion G protein-coupled receptor G1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：粘附 G 蛋白偶联受体 G1

种属: Homo sapiens

同用名: BFPP; BPPR; GPR56; TM7LN4; TM7XN1

基因 ID: 9289 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 G 蛋白偶联受体家族的成员并调节大脑皮层模式。编码的蛋白质与转谷氨酰胺酶 2 特异性结合，转谷氨酰胺酶 2 是组织和肿瘤基质的一种成分，与肿瘤进展的抑制剂有关。该基因的突变与称为双侧额顶多小脑回的大脑畸形有关。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 2 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables heparin binding IDA
IDA: 通过直接分析推断
27068534 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28258187 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Rho protein signal transduction IDA
IDA: 通过直接分析推断
21708946 GOA
involved in angiogenesis IDA
IDA: 通过直接分析推断
21724588 GOA
involved in brain development IMP
IMP: 通过突变表型推断
15044805 GOA
involved in cell adhesion IDA
IDA: 通过直接分析推断
27068534 GOA
involved in cell migration IDA
IDA: 通过直接分析推断
27068534 GOA
involved in negative regulation of cell population proliferation IDA
IDA: 通过直接分析推断
16757564 GOA
involved in phospholipase C-activating G protein-coupled receptor signaling pathway IDA
IDA: 通过直接分析推断
21724588 GOA
involved in positive regulation of cell adhesion IDA
IDA: 通过直接分析推断
21349848 GOA
involved in positive regulation of vascular endothelial growth factor signaling pathway IDA
IDA: 通过直接分析推断
21724588 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ADGRG1 蛋白结构

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.
蛋白主名 其他名称

adhesion G-protein coupled receptor G1

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

重组 ADGRG1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75796 GPR56 Protein, Human (HEK293, His) Q9Y653-2/NP_958933.1 (R26-V342) ≥95%

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00354 ADGRG1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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