1. Gene
  2. CELSR3 - cadherin EGF LAG seven-pass G-type receptor 3 Gene

CELSR3 - cadherin EGF LAG seven-pass G-type receptor 3 Gene

中文名称:钙粘蛋白 EGF LAG 七通 G 型受体 3

种属: Homo sapiens

同用名: FMI1; EGFL1; HFMI1; MEGF2; ADGRC3; CDHF11; RESDA1

基因 ID: 1951 | 基因类型: protein coding

关于 CELSR3

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,636,463-48,662,886 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues and 6 paralogues. Broad expression in brain (RPKM 3.0), testis (RPKM 2.3) and 17 other tissues.

功能概要

该基因属于钙粘蛋白超家族中的火烈鸟亚科。火烈鸟钙粘蛋白由不与连环蛋白相互作用的非经典型钙粘蛋白组成。它们是质膜蛋白,在其胞外域中包含七个表皮生长因子样重复序列、九个钙粘蛋白结构域和两个层粘连蛋白 A G 型重复序列。它们还有七个跨膜结构域,这是它们亚家族的一个特征。编码的蛋白质可能参与接触依赖性神经突生长的调节,并可能在肿瘤形成中发挥作用。[RefSeq 提供,2013 年 6 月]

This gene belongs to the flamingo subfamily, which is included in the Cadherin superfamily. The flamingo Cadherins consist of nonclassic-type Cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine Cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]

CELSR3 基因产物(1)

mRNA Protein Name
NM_001407.3 NP_001398.2 cadherin EGF LAG seven-pass G-type receptor 3 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
17474147 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

CELSR3 蛋白结构

Cadherin

Cadherin: Cadherin domain (330 - 423)

Cadherin

Cadherin: Cadherin domain (440 - 535)

Cadherin

Cadherin: Cadherin domain (550 - 634)

Cadherin

Cadherin: Cadherin domain (656 - 747)

Cadherin

Cadherin: Cadherin domain (761 - 849)

Cadherin

Cadherin: Cadherin domain (863 - 951)

Cadherin

Cadherin: Cadherin domain (966 - 1058)

Cadherin

Cadherin: Cadherin domain (1073 - 1159)

EGF

EGF: EGF-like domain (1479 - 1512)

Laminin_G_2

Laminin_G_2: Laminin G domain (1543 - 1702)

EGF

EGF: EGF-like domain (1726 - 1755)

Laminin_G_2

Laminin_G_2: Laminin G domain (1793 - 1922)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (2077 - 2117)

HRM

HRM: Hormone receptor domain (2127 - 2180)

(2198 - 2450)

GPS

GPS: GPCR proteolysis site, GPS, motif (2477 - 2524)

7tm_2

7tm_2: 7 transmembrane receptor (Secretin family) (2538 - 2767)

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  • 3312 a.a.
蛋白主名 其他名称

cadherin EGF LAG seven-pass G-type receptor 3

EGF-like protein 1

关联疾病

疾病名称 别名
Autosomal Dominant Wolfram Syndrome
Alzheimer Disease 15

AD15

Alzheimer'S Disease 15

Alzheimer Disease Without Neurofibrillary Tangles

Alzheimer'S Disease 15, Late Onset

Alzheimer'S Disease Without Neurofibrillary Tangles

Bjornstad Syndrome

BJS

Pili Torti And Nerve Deafness

Ptd

Pili Torti-Deafness Syndrome

Deafness-Pili Torti-Hypogonadism Syndrome

Deafness And Pili Torti, Bjornstad Type

Pili Torti-Sensorineural Hearing Loss

Björnstad Syndrome

Ptnd

Hearing Loss-Pili Torti-Hypogonadism Syndrome

Bjoernstad Syndrome

Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex

Exstrophy-Epispadias Complex

Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex

Beec

Eec

Exstrophy Of The Bladder

Bladder Exstrophy

Bladder Exstrophy And Epispadias Complex

Chronic Tic Disorder

Chronic Motor Or Vocal Tic Disorder

Tic Disorders

Tic Disorder

Tic Disorder Nos

Tic Nos

Tic Spasm Nos

Polymicrogyria, Bilateral Frontoparietal

Bilateral Frontoparietal Polymicrogyria

BFPP

Cerebellar Ataxia With Neuronal Migration Defect

Tic Disorder

Tics

Behavioral Tic

Bladder Exstrophy

Exstrophy Of The Bladder

Classic Exstrophy Of The Bladder

Gilles De La Tourette Syndrome

Tourette Syndrome

Tourette Disorder

GTS

Ts

Gilles De La Tourette'S Syndrome

Motor-Verbal Tic Disorder

Guinon'S Disease

Psychogenic Tics

Tourette'S Syndrome

Chronic Motor And Vocal Tic Disorder

Td

Tourette'S Disease

Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]

Combined Vocal And Multiple Motor Tic Disorder

Tic De La Tourette

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus CELSR3 MGD MGI:1858236
Canis familiaris CELSR3 VGNC VGNC:54589
Bos taurus CELSR3 VGNC VGNC:27171
Macaca mulatta CELSR3 VGNC VGNC:71148
Rattus norvegicus CELSR3 RGD RGD:621787
Felis catus CELSR3 VGNC VGNC:82466
Others CELSR3 NCBI