1. Gene
  2. RAPGEF3 - Rap guanine nucleotide exchange factor 3 Gene

RAPGEF3 - Rap guanine nucleotide exchange factor 3 Gene

中文名称:Rap 鸟嘌呤核苷酸交换因子 3

种属: Homo sapiens

同用名: EPAC; EPAC1; bcm910; HSU79275; CAMP-GEFI

基因 ID: 10411 | 基因类型: protein coding

关于 RAPGEF3

Cytogenetic location: 12q13.11 Genomic coordinates (GRCh38): 12:47,734,363-47,758,880 (from NCBI)

This gene has 20 transcripts (splice variants), 205 orthologues and 24 paralogues. Broad expression in fat (RPKM 15.0), thyroid (RPKM 13.2) and 22 other tissues.

功能概要

启用胍基核苷酸交换因子活性和蛋白质结构域特异性结合活性。参与多个过程,包括蛋白质修饰过程的正调控;调节肌动蛋白细胞骨架组织;质膜融合对合胞体形成的调控。位于 filopodium;片状足;和微绒毛。与皮质肌动蛋白细胞骨架和质膜共定位。充血性心力衰竭的生物标志物。 [由基因组资源联盟提供,2022 年 4 月]

Enables guanyl-nucleotide exchange factor activity and protein domain specific binding activity. Involved in several processes, including positive regulation of protein modification process; regulation of actin Cytoskeleton organization; and regulation of syncytium formation by plasma membrane fusion. Located in filopodium; lamellipodium; and microvillus. Colocalizes with cortical actin Cytoskeleton and plasma membrane. Biomarker of congestive heart failure. [provided by Alliance of Genome Resources, Apr 2022]

RAPGEF3 基因产物(3)

mRNA Protein Name
NM_001098531.4 NP_001092001.2 rap guanine nucleotide exchange factor 3 isoform a
NM_001098532.2 NP_001092002.1 rap guanine nucleotide exchange factor 3 isoform b
NM_006105.5 NP_006096.2 rap guanine nucleotide exchange factor 3 isoform b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables guanyl-nucleotide exchange factor activity EXP
EXP: 通过实验结果推断
15334074 GOA
enables guanyl-nucleotide exchange factor activity IMP
IMP: 通过突变表型推断
21840392 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21393242 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
21047789 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with cortical actin cytoskeleton IDA
IDA: 通过直接分析推断
21047789 GOA
located in filopodium IDA
IDA: 通过直接分析推断
21047789 GOA
located in lamellipodium IDA
IDA: 通过直接分析推断
21047789 GOA
located in microvillus IDA
IDA: 通过直接分析推断
21047789 GOA
colocalizes with plasma membrane IDA
IDA: 通过直接分析推断
21047789 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

RAPGEF3 蛋白结构

DEP

DEP: Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) (116 - 184)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (268 - 347)

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (388 - 492)

RasGEF

RasGEF: RasGEF domain (661 - 844)

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  • 923 a.a.
蛋白主名 其他名称

rap guanine nucleotide exchange factor 3

9330170P05Rik

RAPGEF3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RAPGEF3 O95398 PDE3B Homo sapiens Q13370
Anti Tag CoIP
21393242
种属内
RAPGEF3 O95398 PDE3B Homo sapiens Q13370
Peptide Array
21393242
种属内
RAPGEF3 O95398 PDE3B Homo sapiens Q13370
Pull Down
21393242
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

LNS

Hprt Deficiency

Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

X-Linked Hyperuricemia

Choreoathetosis Self-Mutilation Syndrome

Hprt1 Deficiency

Hprt Deficiency, Complete

Deficiency Of Imp Pyrophosphorylase

Hgprt Deficiency

Lesch-Nyhan Disease

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

Hg-Prt Deficiency

Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

Lesch - Nyhan Syndrome

Hprt1 Disorders

Lesch Nyhan Syndrome

Complete Hprt Deficiency Complete

Lesch Nyhan Disease

Complete Hprt Deficiency

Deficiency Of Guanine Phosphoribosyltransferase

Deficiency Of Hypoxanthine Phosphoribosyltransferase

Hypoxanthine Phosphoribosyltransferase Deficiency

Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

Juvenile Hyperuricemia Syndrome

Lnd

Primary Hyperuricemia Syndrome

Total Hprt Deficiency

Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

X-Linked Primary Hyperuricemia

X-Linked Uric Aciduria Enzyme Defect

Hprt Complete Deficiency

Hprt Deficiency Grade Iv

Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Inhalation Anthrax

Pulmonary Anthrax

Respiratory Anthrax

Inhalational Anthrax

Wool-Sorters' Disease

Woolsorters' Disease

Inhalation Anthrax Disease

Respiratory Anthrax Disease

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

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
Macaca mulatta RAPGEF3 VGNC VGNC:76491
Mus musculus RAPGEF3 MGD MGI:2441741
Rattus norvegicus RAPGEF3 RGD RGD:621869
Bos taurus RAPGEF3 VGNC VGNC:33724
Canis familiaris RAPGEF3 VGNC VGNC:45348
Felis catus RAPGEF3 VGNC VGNC:97599