1. Gene
  2. PRR5 - proline rich 5 Gene

PRR5 - proline rich 5 Gene

中文名称:富脯氨酸 5

种属: Homo sapiens

同用名: PP610; PROTOR1; PROTOR-1; FLJ20185k

基因 ID: 55615 | 基因类型: protein coding

关于 PRR5

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:44,668,751-44,737,681 (from NCBI)

This gene has 18 transcripts (splice variants), 255 orthologues and 1 paralogue. Broad expression in fat (RPKM 9.7), spleen (RPKM 8.6) and 23 other tissues.

功能概要

该基因编码的蛋白质具有富含脯氨酸的结构域。该基因位于 22 号染色体的一个区域,据报道该区域含有一个可能参与乳腺和结直肠肿瘤发生的抑癌基因。该蛋白是雷帕霉素复合物 2 (mTORC2) 的哺乳动物靶标的组成部分,它调节血小板衍生生长因子 (PDGF) 受体 β 表达和 PDGFAkt 和 S6K1 的信号传导。可变剪接和替代启动子的使用导致转录本编码不同的亚型。从该基因到下游 Rho GTP 酶激活蛋白 8 (ARHGAP8) 基因的通读转录本也存在,这导致最初将 PRR5 和 ARHGAP8 描述为单个基因。[RefSeq 提供,2010 年 11 月]

This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]

PRR5 基因产物(6)

mRNA Protein Name
NM_001017528.3 NP_001017528.1 proline-rich protein 5 isoform 2
NM_001017529.3 NP_001017529.1 proline-rich protein 5 isoform 3
NM_001017530.2 NP_001017530.1 proline-rich protein 5 isoform 3
NM_001198721.2 NP_001185650.1 proline-rich protein 5 isoform 4
NM_015366.4 NP_056181.2 proline-rich protein 5 isoform 2
NM_181333.4 NP_851850.1 proline-rich protein 5 isoform 1
基因本体论
  • 分子功能
  • 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
24550280 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of TORC2 complex IDA
IDA: 通过直接分析推断
22609986 GOA
part of TORC2 complex IPI
IPI: 通过物理相互作用推断
17461779 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

PRR5 蛋白结构

HbrB

HbrB: HbrB-like (36 - 164)

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

proline-rich protein 5

Rho GTPase activating protein 8

PRR5 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
PRR5 P85299 YWHAH Homo sapiens Q04917 33961781
种属内
PRR5 P85299 DLG1 Homo sapiens Q12959 24550280
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
Endocervicitis
Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy In Infancy

Smei

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Developmental And Epileptic Encephalopathy, 6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

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 PRR5 VGNC VGNC:107920
Mus musculus PRR5 MGD MGI:1924714
Rattus norvegicus PRR5 RGD RGD:1307954
Felis catus PRR5 VGNC VGNC:64387
Bos taurus PRR5 VGNC VGNC:33400
Canis familiaris PRR5 VGNC VGNC:45047