2. Gene
  3. Rpgr - retinitis pigmentosa GTPase regulator Gene

Rpgr - retinitis pigmentosa GTPase regulator Gene

  • 基因
  • 蛋白
  • 相关产品
  • 直系同源

种属: Mus musculus

同用名: Rd9; Rp3h

基因 ID: 19893 | 基因类型: protein coding

关于 Rpgr

功能概要

Predicted to enable guanyl-nucleotide exchange factor activity. Involved in intraciliary transport. Acts upstream of or within cellular response to light stimulus; eye morphogenesis; and visual perception. Located in several cellular components, including ciliary basal body; photoreceptor distal connecting cilium; and sperm flagellum. Is expressed in several structures, including genitourinary system; nervous system; and sensory organ. Used to study X-linked cone-rod dystrophy 1 and retinitis pigmentosa 3. Human ortholog(s) of this gene implicated in X-linked atrophic macular degeneration; X-linked cone-rod dystrophy 1; X-linked retinitis pigmentosa and sinorespiratory infections; retinitis pigmentosa; and retinitis pigmentosa 3. Orthologous to human RPGR (retinitis pigmentosa GTPase regulator). [provided by Alliance of Genome Resources, Apr 2022]

Rpgr 基因产物(6)

mRNA Protein Name
NM_001177950.1 NP_001171421.1 X-linked retinitis pigmentosa GTPase regulator isoform 1
NM_001177951.1 NP_001171422.1 X-linked retinitis pigmentosa GTPase regulator isoform 2
NM_001177952.1 NP_001171423.1 X-linked retinitis pigmentosa GTPase regulator isoform 4
NM_001177953.1 NP_001171424.1 X-linked retinitis pigmentosa GTPase regulator isoform 5
NM_001177954.1 NP_001171425.1 X-linked retinitis pigmentosa GTPase regulator isoform 6
NM_011285.2 NP_035415.1 X-linked retinitis pigmentosa GTPase regulator isoform 3
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
9990021 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within cellular response to light stimulus IMP
IMP: 通过突变表型推断
10725384 MGI
acts upstream of or within eye photoreceptor cell development IMP
IMP: 通过突变表型推断
12651948 MGI
involved in intraciliary transport IMP
IMP: 通过突变表型推断
18579752 MGI
acts upstream of or within retina morphogenesis in camera-type eye IMP
IMP: 通过突变表型推断
10725384 MGI
acts upstream of or within visual perception IMP
IMP: 通过突变表型推断
12651948 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
9677393 MGI
located in ciliary basal body IDA
IDA: 通过直接分析推断
16043481 MGI
located in cilium IDA
IDA: 通过直接分析推断
11104772 MGI
located in cytoplasm IDA
IDA: 通过直接分析推断
11104772 MGI
located in photoreceptor connecting cilium IDA
IDA: 通过直接分析推断
10725384 MGI
located in photoreceptor distal connecting cilium IDA
IDA: 通过直接分析推断
29899041 MGI
located in sperm flagellum IDA
IDA: 通过直接分析推断
16043481 MGI
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
蛋白主名 其他名称

X-linked retinitis pigmentosa GTPase regulator

mRpgr

Rpgr 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
种属间
Rpgr Q9R0X5 RPGRIP1L Homo sapiens Q68CZ1
Y2H
19430481
种属间: 跨种属相互作用 种属内: 同种属相互作用

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-RS12154 RPGR Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Rpgr NCBI NCBI:6103
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