2. Gene
  3. RABGEF1 - RAB guanine nucleotide exchange factor 1 Gene

RABGEF1 - RAB guanine nucleotide exchange factor 1 Gene

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

中文名称：RAB 鸟嘌呤核苷酸交换因子 1

种属: Homo sapiens

同用名: RAP1; RABEX5; rabex-5

基因 ID: 27342 | 基因类型: protein coding

关于 RABGEF1

Cytogenetic location: 7q11.21 Genomic coordinates (GRCh38): 7:66,654,567-66,811,464 (from NCBI)

This gene has 7 transcripts (splice variants), 215 orthologues and 6 paralogues. Ubiquitous expression in bone marrow (RPKM 17.2), testis (RPKM 15.3) and 25 other tissues.

功能概要

RABGEF1 与 rabaptin-5 (RABPT5；MIM 603616) 形成内吞膜融合所需的复合物，它作为 RAB5 (RAB5A；MIM 179512) 的特异性鸟嘌呤核苷酸交换因子 (GEF) (Horiuchi 等人，1997 年) [PubMed 9323142]) .[OMIM 提供，2010 年 3 月]

RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]

RABGEF1 基因产物(39)

mRNA Protein Name
NM_001287060.2 NP_001273989.1 rab5 GDP/GTP exchange factor isoform a
NM_001287061.2 NP_001273990.1 rab5 GDP/GTP exchange factor isoform b
NM_001287062.2 NP_001273991.1 rab5 GDP/GTP exchange factor isoform c
NM_001367722.1 NP_001354651.1 rab5 GDP/GTP exchange factor isoform a
NM_001367723.1 NP_001354652.1 rab5 GDP/GTP exchange factor isoform a
NM_001367724.1 NP_001354653.1 rab5 GDP/GTP exchange factor isoform a
NM_001367725.1 NP_001354654.1 rab5 GDP/GTP exchange factor isoform c
NM_001367726.1 NP_001354655.1 rab5 GDP/GTP exchange factor isoform c
NM_001367727.1 NP_001354656.1 rab5 GDP/GTP exchange factor isoform c
NM_001367728.1 NP_001354657.1 rab5 GDP/GTP exchange factor isoform c
NM_001367729.1 NP_001354658.1 rab5 GDP/GTP exchange factor isoform c
NM_001367730.1 NP_001354659.1 rab5 GDP/GTP exchange factor isoform c
NM_001367731.1 NP_001354660.1 rab5 GDP/GTP exchange factor isoform c
NM_001367732.1 NP_001354661.1 rab5 GDP/GTP exchange factor isoform c
NM_001367733.1 NP_001354662.1 rab5 GDP/GTP exchange factor isoform c
NM_001367734.1 NP_001354663.1 rab5 GDP/GTP exchange factor isoform c
NM_001367735.1 NP_001354664.1 rab5 GDP/GTP exchange factor isoform c
NM_001367736.1 NP_001354665.1 rab5 GDP/GTP exchange factor isoform c
NM_001367737.1 NP_001354666.1 rab5 GDP/GTP exchange factor isoform d
NM_001367738.1 NP_001354667.1 rab5 GDP/GTP exchange factor isoform d
NM_001367739.1 NP_001354668.1 rab5 GDP/GTP exchange factor isoform d
NM_001367740.1 NP_001354669.1 rab5 GDP/GTP exchange factor isoform d
NM_001367741.1 NP_001354670.1 rab5 GDP/GTP exchange factor isoform e
NM_001367742.1 NP_001354671.1 rab5 GDP/GTP exchange factor isoform e
NM_001367743.1 NP_001354672.1 rab5 GDP/GTP exchange factor isoform f precursor
NM_001367744.1 NP_001354673.1 rab5 GDP/GTP exchange factor isoform f precursor
NM_001367745.1 NP_001354674.1 rab5 GDP/GTP exchange factor isoform g
NM_001367746.1 NP_001354675.1 rab5 GDP/GTP exchange factor isoform g
NM_001367747.1 NP_001354676.1 rab5 GDP/GTP exchange factor isoform g
NM_001367748.1 NP_001354677.1 rab5 GDP/GTP exchange factor isoform g
NM_001367749.1 NP_001354678.1 rab5 GDP/GTP exchange factor isoform h
NM_001367750.1 NP_001354679.1 rab5 GDP/GTP exchange factor isoform h
NM_001367751.1 NP_001354680.1 rab5 GDP/GTP exchange factor isoform h
NM_001367752.1 NP_001354681.1 rab5 GDP/GTP exchange factor isoform i
NM_001367753.1 NP_001354682.1 rab5 GDP/GTP exchange factor isoform j
NM_001367754.1 NP_001354683.1 rab5 GDP/GTP exchange factor isoform k
NM_001367755.1 NP_001354684.1 rab5 GDP/GTP exchange factor isoform l
NM_001367756.1 NP_001354685.1 rab5 GDP/GTP exchange factor isoform m
NM_014504.3 NP_055319.1 rab5 GDP/GTP exchange factor isoform c
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
20937701 GOA
enables guanyl-nucleotide exchange factor activity IMP
IMP: 通过突变表型推断
23382462 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
23382462 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein targeting to membrane IMP
IMP: 通过突变表型推断
23382462 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in early endosome IMP
IMP: 通过突变表型推断
23382462 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

RABGEF1 蛋白结构

zf-A20

zf-A20: A20-like zinc finger (17 - 40)

VPS9

VPS9: Vacuolar sorting protein 9 (VPS9) domain (270 - 370)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 491 a.a.
蛋白主名 其他名称

rab5 GDP/GTP exchange factor

RAB guanine nucleotide exchange factor (GEF) 1

RABGEF1 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
Intra RABGEF1 Q9UJ41 TEAD4 Homo sapiens D3DUQ6
Validated Y2H
25416956
Intra RABGEF1 Q9UJ41 THOC1 Homo sapiens Q96FV9
Validated Y2H
25416956
Intra RABGEF1 Q9UJ41 THOC1 Homo sapiens Q96FV9
Y2H Array
25416956
Intra RABGEF1 Q9UJ41 TRIM54 Homo sapiens Q9BYV2
Validated Y2H
25416956
Intra RABGEF1 Q9UJ41 TRIM54 Homo sapiens Q9BYV2
Y2H Array
25416956
Intra RABGEF1 Q9UJ41 TRIM54 Homo sapiens Q9BYV2
Y2H Prey Pooling
25416956
Intra RABGEF1 Q9UJ41 TRIM15 Homo sapiens Q9C019
Y2H Prey Pooling
25416956
Intra RABGEF1 Q9UJ41 TRIM15 Homo sapiens Q9C019
Validated Y2H
25416956
Intra RABGEF1 Q9UJ41 TXN2 Homo sapiens Q99757
Validated Y2H
25416956
Intra RABGEF1 Q9UJ41 TXN2 Homo sapiens Q99757
Y2H Array
25416956
Intra RABGEF1 Q9UJ41 EGFR Homo sapiens P00533
IF
16499958
Intra RABGEF1 Q9UJ41 EGFR Homo sapiens P00533
Anti Tag CoIP
16499958
Intra RABGEF1 Q9UJ41 UBB Homo sapiens P0CG47
Pull Down
16499958
Intra RABGEF1 Q9UJ41 UBB Homo sapiens P0CG47
GMS
16499958
Intra RABGEF1 Q9UJ41 RABEP1 Homo sapiens Q15276
Anti Tag CoIP
33961781
Intra RABGEF1 Q9UJ41 BLOC1S6 Homo sapiens Q9UL45
Y2H Array
25416956
Intra RABGEF1 Q9UJ41 DAZAP2 Homo sapiens Q15038
Y2H Prey Pooling
25416956
Intra RABGEF1 Q9UJ41 KXD1 Homo sapiens Q9BQD3
Pull Down
16189514
Intra RABGEF1 Q9UJ41 KXD1 Homo sapiens Q9BQD3
Y2H Pooling
16189514
Intra RABGEF1 Q9UJ41 ZC2HC1C Homo sapiens Q53FD0
Validated Y2H
25416956
Intra RABGEF1 Q9UJ41 ZC2HC1C Homo sapiens Q53FD0
Y2H Prey Pooling
25416956
Intra RABGEF1 Q9UJ41 UBC Homo sapiens Q96C32
Y2H Prey Pooling
25416956
Intra RABGEF1 Q9UJ41 UBC Homo sapiens Q96C32
Validated Y2H
25416956
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
Smith-Mccort Dysplasia 1

Smith-Mccort Dysplasia

SMC1

Smc

Smith Mccort Dysplasia

Smith-Mccort Dwarfism
Dyggve-Melchior-Clausen Disease

Dyggve-Melchior-Clausen Syndrome

DMC

Dmc Disease

Pseudo-Morquio Disease Type I

Dmc Syndrome
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-RS11586 RABGEF1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus RABGEF1 VGNC VGNC:108501
Rattus norvegicus RABGEF1 RGD RGD:1307295
Canis familiaris RABGEF1 VGNC VGNC:54062
Mus musculus RABGEF1 MGD MGI:1929459
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z