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  2. RABEP1 - rabaptin, RAB GTPase binding effector protein 1 Gene

RABEP1 - rabaptin, RAB GTPase binding effector protein 1 Gene

中文名称:rabaptin,RAB GTPase 结合效应蛋白 1

种属: Homo sapiens

同用名: RAB5EP; RABPT5

基因 ID: 9135 | 基因类型: protein coding

关于 RABEP1

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:5,282,284-5,386,340 (from NCBI)

This gene has 7 transcripts (splice variants), 213 orthologues, 1 paralogue and is associated with 62 phenotypes. Ubiquitous expression in brain (RPKM 23.0), prostate (RPKM 14.6) and 25 other tissues.

功能概要

启用蛋白质结构域特异性结合活性和蛋白质同源二聚化活性。参与囊泡介导的运输。位于内吞囊泡和核内体中。部分含蛋白质复合物。 [由基因组资源联盟提供,2022 年 4 月]

Enables protein domain specific binding activity and protein homodimerization activity. Involved in vesicle-mediated transport. Located in endocytic vesicle and endosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

RABEP1 基因产物(4)

mRNA Protein Name
NM_001083585.3 NP_001077054.1 rab GTPase-binding effector protein 1 isoform 2
NM_001291581.2 NP_001278510.1 rab GTPase-binding effector protein 1 isoform 3
NM_001291582.2 NP_001278511.1 rab GTPase-binding effector protein 1 isoform 4
NM_004703.6 NP_004694.2 rab GTPase-binding effector protein 1 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
12505986 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
12767220 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
15378032 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in vesicle-mediated transport IMP
IMP: 通过突变表型推断
22841712 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endocytic vesicle IDA
IDA: 通过直接分析推断
20682791 GOA
located in endosome IDA
IDA: 通过直接分析推断
20682791 GOA
part of protein-containing complex IMP
IMP: 通过突变表型推断
12767220 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

RABEP1 蛋白结构

Rabaptin

Rabaptin: Rabaptin (46 - 152)

Rabaptin

Rabaptin: Rabaptin (418 - 553)

Rab5-bind

Rab5-bind: Rabaptin-like protein (569 - 764)

  • 0
  • 200
  • 400
  • 600
  • 819 a.a.
蛋白主名 其他名称

rab GTPase-binding effector protein 1

neurocrescin

RABEP1 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 RABEP1 Q15276 ZNF774 Homo sapiens Q6NX45
Validated Y2H
32296183
Intra RABEP1 Q15276 MAT2B Homo sapiens Q9NZL9
Validated Y2H
32296183
Intra RABEP1 Q15276 ZNF512B Homo sapiens Q96KM6
Validated Y2H
32296183
Intra RABEP1 Q15276 TSHZ2 Homo sapiens Q9NRE2
Validated Y2H
32296183
Intra RABEP1 Q15276 PKP2 Homo sapiens Q99959-2
Validated Y2H
32296183
Intra RABEP1 Q15276 ABI2 Homo sapiens Q9NYB9-2
Validated Y2H
32296183
Intra RABEP1 Q15276 TRAPPC2L Homo sapiens Q9UL33-2
Validated Y2H
32296183
Intra RABEP1 Q15276 UTP14C Homo sapiens Q5TAP6
Validated Y2H
32296183
Intra RABEP1 Q15276 CEP57 Homo sapiens Q86XR8-3
Validated Y2H
32296183
Intra RABEP1 Q15276 ZNF438 Homo sapiens Q7Z4V0
Validated Y2H
32296183
Intra RABEP1 Q15276 RNF39 Homo sapiens Q9H2S5
Validated Y2H
32296183
Cross RABEP1 Q15276 yscH Yersinia pestis P68590
Y2H Array
21911467
Intra RABEP1 Q15276 MCRS1 Homo sapiens Q96EZ8
Validated Y2H
32296183
Intra RABEP1 Q15276 AP1G2 Homo sapiens O75843
Y2H
12505986
Intra RABEP1 Q15276 CDKL3 Homo sapiens Q8IVW4
Validated Y2H
32296183
Intra RABEP1 Q15276 ESCO2 Homo sapiens Q56NI9
Validated Y2H
32296183
Intra RABEP1 Q15276 GGA1 Homo sapiens Q9UJY5
Y2H
15143060
Intra RABEP1 Q15276 GGA1 Homo sapiens Q9UJY5
Y2H
12505986
Intra RABEP1 Q15276 GGA1 Homo sapiens Q9UJY5
Pull Down
15457209
Intra RABEP1 Q15276 GGA1 Homo sapiens Q9UJY5
Affinity Chrom
12505986
Intra RABEP1 Q15276 GGA1 Homo sapiens Q9UJY5
X-Ray Diffraction
15457209
Intra RABEP1 Q15276 GGA3 Homo sapiens Q9NZ52
Y2H
12505986
Intra RABEP1 Q15276 AP1G1 Homo sapiens O43747
Y2H
12505986
Intra RABEP1 Q15276 GGA2 Homo sapiens Q9UJY4
Anti Bait CoIP
12505986
Intra RABEP1 Q15276 PELI2 Homo sapiens Q9HAT8
Validated Y2H
32296183
Intra RABEP1 Q15276 BARD1 Homo sapiens Q99728
Validated Y2H
32296183
Intra RABEP1 Q15276 FAM90A1 Homo sapiens Q86YD7
Validated Y2H
32296183
Intra RABEP1 Q15276 WASHC3 Homo sapiens Q9Y3C0
Validated Y2H
32296183
Intra RABEP1 Q15276 LENG1 Homo sapiens Q96BZ8
Validated Y2H
32296183
Intra RABEP1 Q15276 CFAP53 Homo sapiens Q96M91
Validated Y2H
32296183
Intra RABEP1 Q15276 FAM50B Homo sapiens Q9Y247
Validated Y2H
32296183
Intra RABEP1 Q15276 CCDC120 Homo sapiens Q96HB5
Validated Y2H
32296183
Intra RABEP1 Q15276 TNS4 Homo sapiens Q8IZW8
Validated Y2H
32296183
Intra RABEP1 Q15276 RABGEF1 Homo sapiens Q9UJ41
Anti Tag CoIP
35271311
Intra RABEP1 Q15276 CDC73 Homo sapiens Q6P1J9
Validated Y2H
32296183
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
Tuberous Sclerosis 2

Tsc2 Angiomyolipomas, Renal, Modifier Of

TSC2

Tuberous Sclerosis

Tuberous Sclerosis-2

Tuberous Sclerosis, Type 2

Ts

Tuberous Sclerosis Complex

Chronic Myelomonocytic Leukemia

Leukemia, Myelomonocytic, Chronic

Cmml

Leukemia Myelomonocytic Chronic

Cmml - [Chronic Myelomonocytic Leukaemia]

Chronic Myelomonocytic Leukaemia Without Mention Of Remission

Chronic Monocytic Leukaemia

Chronic Monocytoid Leukaemia

Joubert Syndrome 13

JBTS13

Joubert Syndrome, Type 13

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

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 RABEP1 VGNC VGNC:76502
Mus musculus RABEP1 MGD MGI:1860236
Felis catus RABEP1 VGNC VGNC:64473
Canis familiaris RABEP1 VGNC VGNC:45300
Rattus norvegicus RABEP1 RGD RGD:708568
Bos taurus RABEP1 VGNC VGNC:33667