1. Gene
  2. RAPGEF1 - Rap guanine nucleotide exchange factor 1 Gene

RAPGEF1 - Rap guanine nucleotide exchange factor 1 Gene

中文名称:Rap 鸟嘌呤核苷酸交换因子 1

种属: Homo sapiens

同用名: C3G; GRF2

基因 ID: 2889 | 基因类型: protein coding

关于 RAPGEF1

Cytogenetic location: 9q34.13 Genomic coordinates (GRCh38): 9:131,576,775-131,740,076 (from NCBI)

This gene has 8 transcripts (splice variants), 252 orthologues and 24 paralogues. Ubiquitous expression in placenta (RPKM 13.7), lymph node (RPKM 12.3) and 25 other tissues.

功能概要

该基因编码人鸟嘌呤核苷酸交换因子。它通过结合 CRK 的 SH3 结构域并激活 GTP 酶 Ras 家族的几个成员来转导来自 CRK 的信号。这种信号级联可能参与细胞凋亡、整合素介导的信号转导和细胞转化。已经描述了该基因的几种可变剪接的转录本变体,但尚未确定某些变体的全长性质。[RefSeq 提供,2008 年 7 月]

This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in Apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

RAPGEF1 基因产物(7)

mRNA Protein Name
NM_001304275.2 NP_001291204.1 rap guanine nucleotide exchange factor 1 isoform c
NM_001377935.1 NP_001364864.1 rap guanine nucleotide exchange factor 1 isoform d
NM_001377936.1 NP_001364865.1 rap guanine nucleotide exchange factor 1 isoform e
NM_001377937.1 NP_001364866.1 rap guanine nucleotide exchange factor 1 isoform f
NM_001377938.1 NP_001364867.1 rap guanine nucleotide exchange factor 1 isoform g
NM_005312.4 NP_005303.2 rap guanine nucleotide exchange factor 1 isoform a
NM_198679.2 NP_941372.1 rap guanine nucleotide exchange factor 1 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 IDA
IDA: 通过直接分析推断
10548487 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
9748234 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Rap protein signal transduction IMP
IMP: 通过突变表型推断
21840392 GOA
involved in cellular response to cAMP IDA
IDA: 通过直接分析推断
21840392 GOA
involved in cellular response to nerve growth factor stimulus IDA
IDA: 通过直接分析推断
17724123 GOA
involved in establishment of endothelial barrier IMP
IMP: 通过突变表型推断
21840392 GOA
involved in nerve growth factor signaling pathway IDA
IDA: 通过直接分析推断
17724123 GOA
involved in positive regulation of GTPase activity IDA
IDA: 通过直接分析推断
10548487 GOA
involved in positive regulation of GTPase activity IMP
IMP: 通过突变表型推断
21840392 GOA
involved in positive regulation of neuron projection development IMP
IMP: 通过突变表型推断
17724123 GOA
involved in regulation of cell junction assembly IMP
IMP: 通过突变表型推断
21840392 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
17515907 GOA
located in early endosome IDA
IDA: 通过直接分析推断
17724123 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

RAPGEF1 蛋白结构

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (692 - 765)

RasGEF

RasGEF: RasGEF domain (838 - 1013)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1077 a.a.
蛋白主名 其他名称

rap guanine nucleotide exchange factor 1

CRK SH3-binding GNRP

RAPGEF1 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
RAPGEF1 Q13905 CRK Homo sapiens P46108-1 19001122
种属内
RAPGEF1 Q13905 ABL1 Homo sapiens P00519 16443220
种属内
RAPGEF1 Q13905 ABL1 Homo sapiens P00519 16443220
种属内
RAPGEF1 Q13905 ABL1 Homo sapiens P00519 17474147
种属内
RAPGEF1 Q13905 NCK1 Homo sapiens P16333 17474147
种属内
RAPGEF1 Q13905 FYN Homo sapiens P06241 17474147
种属内
RAPGEF1 Q13905 PIK3R1 Homo sapiens P27986 17474147
种属内
RAPGEF1 Q13905 CRK Homo sapiens P46108 17474147
种属内
RAPGEF1 Q13905 CRKL Homo sapiens P46109 33961781
种属内
RAPGEF1 Q13905 CRKL Homo sapiens P46109 16443220
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
Nephrotic Syndrome, Type 7

Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7

NPHS7

Nephrotic Syndrome Type 7

Ig-Mediated Membranoproliferative Glomerulonephritis

Ig-Mediated Mpgn

Immunoglobulin-Mediated Mpgn

Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical 7

Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis

Hemolytic Uremic Syndrome With Dgke Deficiency

Hus With Dgke Deficiency

Hemolytic Uremic Syndrome Atypical 7

AHUS7

Nephrotic Syndrome 7

Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis

Exudative Glomerulonephritis
Transient Refractive Change
Membranoproliferative Glomerulonephritis

Mesangiocapillary Glomerulonephritis

Dense Deposit Disease

Membranoproliferative Glomerulonephritis Type 2

Primary Membranoproliferative Glomerulonephritis

Mesangiocapillary Glomerulonephritis, Type Ii

Glomerulonephritis, Membranoproliferative

Chronic Glomerulonephritis, Lobular

Lobular Glomerulonephritis

Ddd

Glomerulonephritis Membranoproliferative Type 2

Mpgn 2

Membranoproliferative Glomerulonephritis Type Ii

Mesangiocapillary Glomerulonephritis Type 2

Mpgn

Primary Mpgn

Glomerulonephritis Membranoproliferative

Membranoproliferative Glomerulonephritis, Type Ii

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

Complement Deficiency

Complement Deficiency Disease

Hereditary Complement Deficiency Diseases

Proliferative Glomerulonephritis
Crescentic Glomerulonephritis

Idiopathic Crescentic Glomerulonephritis

Acute Proliferative Glomerulonephritis

Acute Glomerulonephritis With Lesion Of Proliferative Glomerulonephritis

Acute Post-Streptococcal Glomerulonephritis

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

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
Rattus norvegicus RAPGEF1 RGD RGD:619793
Bos taurus RAPGEF1 VGNC VGNC:33722
Canis familiaris RAPGEF1 VGNC VGNC:45346
Mus musculus RAPGEF1 MGD MGI:104580
Felis catus RAPGEF1 VGNC VGNC:67459
Macaca mulatta RAPGEF1 VGNC VGNC:76582