2. Gene
  3. RAPH1 - Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 Gene

RAPH1 - Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 Gene

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

中文名称：Ras 关联 (RalGDS/AF-6) 和 pleckstrin 同源域 1

种属: Homo sapiens

同用名: LPD; RMO1; PREL2; PREL-2; ALS2CR9; ALS2CR18; RalGDS/AF-6

基因 ID: 65059 | 基因类型: protein coding

关于 RAPH1

Cytogenetic location: 2q33.2 Genomic coordinates (GRCh38): 2:203,433,682-203,535,301 (from NCBI)

This gene has 13 transcripts (splice variants), 200 orthologues and 4 paralogues. Ubiquitous expression in thyroid (RPKM 14.2), liver (RPKM 12.2) and 23 other tissues.

功能概要

该基因编码的蛋白质属于 Mig10/Rap1 相互作用的衔接分子/Lamellipodin 衔接蛋白家族，在细胞迁移中发挥作用。该家族的成员包含 pleckstrin 同源结构域、Ras 结合结构域和富含脯氨酸的 C 端。由该基因编码的蛋白质通过与 Ena/血管扩张蛋白相互作用以及直接结合丝状肌动蛋白来调节肌动蛋白网络组装，从而调节肌动蛋白动力学。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 7 月]

This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

RAPH1 基因产物(3)

mRNA Protein Name
NM_001329728.2 NP_001316657.1 ras-associated and pleckstrin homology domains-containing protein 1 isoform 4
NM_203365.4 NP_976241.1 ras-associated and pleckstrin homology domains-containing protein 1 isoform 3
NM_213589.3 NP_998754.1 ras-associated and pleckstrin homology domains-containing protein 1 isoform 1
基因本体论
  • 分子功能
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
24076656 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

RAPH1 蛋白结构

RA

RA: Ras association (RalGDS/AF-6) domain (270 - 353)

PH

PH: PH domain (398 - 502)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1250 a.a.
蛋白主名 其他名称

ras-associated and pleckstrin homology domains-containing protein 1

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18

RAPH1 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
RAPH1 Q70E73 EGFR Homo sapiens P00533
Anti Bait CoIP
24076656
种属内
RAPH1 Q70E73 SH3GL3 Homo sapiens Q99963
Far-WB
24076656
种属内
RAPH1 Q70E73 SH3GL3 Homo sapiens Q99963
Protein Array
24076656
种属内
RAPH1 Q70E73 SH3GL2 Homo sapiens Q99962
Protein Array
24076656
种属内
RAPH1 Q70E73 SH3GL2 Homo sapiens Q99962
Far-WB
24076656
种属内
RAPH1 Q70E73 SH3GL2 Homo sapiens Q99962
IF
24076656
种属间
RAPH1 Q70E73 Sh3gl1 Rattus norvegicus O35964
Peptide Array
24076656
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
Amyotrophic Lateral Sclerosis 2, Juvenile

ALS2

Als, Juvenile

Alsj

Amyotrophic Lateral Sclerosis Type 2

Amyotrophic Lateral Sclerosis 2

Amyotrophic Lateral Sclerosis Type 2, Juvenile

Amyotrophic Lateral Sclerosis Juvenile

Amyotrophic Lateral Sclerosis Juvenile 2

Sclerosis, Lateral, Amyotrophic, Type Type 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

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-RS11667 RAPH1 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 RAPH1 VGNC VGNC:80337
Mus musculus RAPH1 MGD MGI:1924550
Rattus norvegicus RAPH1 RGD RGD:1308387
Bos taurus RAPH1 VGNC VGNC:54621
Macaca mulatta RAPH1 VGNC VGNC:99397
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