2. Gene
  3. PRPH - peripherin Gene

PRPH - peripherin Gene

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

中文名称：外周蛋白

种属: Homo sapiens

同用名: NEF4; PRPH1

基因 ID: 5630 | 基因类型: protein coding

关于 PRPH

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,295,147-49,298,686 (from NCBI)

This gene has 6 transcripts (splice variants), 190 orthologues, 68 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 11.3), adrenal (RPKM 6.4) and 6 other tissues.

功能概要

该基因编码一种在周围神经系统神经元中发现的细胞骨架蛋白。编码的蛋白质是一种 III 型中间丝蛋白，与结蛋白等其他细胞骨架蛋白具有同源性，并且是一种不同于光感受器中外周蛋白的蛋白质。该基因的突变与肌萎缩侧索硬化症的易感性有关。[RefSeq 提供，2008 年 7 月]

This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

PRPH 基因产物(1)

mRNA Protein Name
NM_006262.4 NP_006253.2 peripherin
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
21900206 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

PRPH 蛋白结构

Filament_head

Filament_head: Intermediate filament head (DNA binding) region (13 - 95)

Filament

Filament: Intermediate filament protein (96 - 406)

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

peripherin

neurofilament 4 (57kD)

PRPH 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 PRPH P41219 ZNF572 Homo sapiens Q7Z3I7
Validated Y2H
32296183
Intra PRPH P41219 DES Homo sapiens P17661
Y2H Prey Pooling
32296183
Intra PRPH P41219 DES Homo sapiens P17661
Y2H Array
32296183
Intra PRPH P41219 PPP1R13B Homo sapiens Q96KQ4
Y2H Prey Pooling
32296183
Intra PRPH P41219 PPP1R13B Homo sapiens Q96KQ4
Validated Y2H
32296183
Intra PRPH P41219 PPP1R13B Homo sapiens Q96KQ4
Y2H Array
32296183
Intra PRPH P41219 FCHO1 Homo sapiens A0A0C3SFZ9
Y2H Array
32296183
Intra PRPH P41219 FCHO1 Homo sapiens A0A0C3SFZ9
Y2H Prey Pooling
32296183
Intra PRPH P41219 PRKAA2 Homo sapiens P54646
Validated Y2H
32296183
Intra PRPH P41219 KIFC3 Homo sapiens Q9BVG8-5
Validated Y2H
32296183
Intra PRPH P41219 PPP1R18 Homo sapiens Q6NYC8
Validated Y2H
32296183
Intra PRPH P41219 ZMAT2 Homo sapiens Q96NC0
Validated Y2H
32296183
Intra PRPH P41219 KRT75 Homo sapiens O95678
Y2H Prey Pooling
32296183
Intra PRPH P41219 KRT75 Homo sapiens O95678
Y2H Array
32296183
Intra PRPH P41219 KRT24 Homo sapiens Q2M2I5
Y2H Prey Pooling
32296183
Intra PRPH P41219 KRT24 Homo sapiens Q2M2I5
Validated Y2H
32296183
Intra PRPH P41219 KRT24 Homo sapiens Q2M2I5
Y2H Array
32296183
Intra PRPH P41219 CDC37 Homo sapiens Q16543
Validated Y2H
32296183
Intra PRPH P41219 KRT27 Homo sapiens Q7Z3Y8
Y2H Array
32296183
Intra PRPH P41219 KRT27 Homo sapiens Q7Z3Y8
Y2H Prey Pooling
32296183
Intra PRPH P41219 KRT27 Homo sapiens Q7Z3Y8
Validated Y2H
32296183
Intra PRPH P41219 PIAS2 Homo sapiens O75928-2
Y2H Array
32296183
Intra PRPH P41219 PIAS2 Homo sapiens O75928-2
Y2H Prey Pooling
32296183
Intra PRPH P41219 VIM Homo sapiens P08670
Y2H
21900206
Intra PRPH P41219 VIM Homo sapiens P08670
Y2H Array
32296183
Intra PRPH P41219 VIM Homo sapiens P08670
Y2H Prey Pooling
32296183
Intra PRPH P41219 KRT16 Homo sapiens P08779
Y2H Array
32296183
Intra PRPH P41219 KRT16 Homo sapiens P08779
Y2H Prey Pooling
32296183
Intra PRPH P41219 TCP10L Homo sapiens Q8TDR4
Y2H Prey Pooling
32296183
Intra PRPH P41219 TCP10L Homo sapiens Q8TDR4
Y2H Array
32296183
Intra PRPH P41219 TCP10L Homo sapiens Q8TDR4
Validated Y2H
32296183
Intra PRPH P41219 NXF1 Homo sapiens Q9UBU9
Validated Y2H
32296183
Intra PRPH P41219 INCA1 Homo sapiens Q0VD86
Y2H Prey Pooling
32296183
Intra PRPH P41219 INCA1 Homo sapiens Q0VD86
Validated Y2H
32296183
Intra PRPH P41219 INCA1 Homo sapiens Q0VD86
Y2H Array
32296183
Intra PRPH P41219 CT55 Homo sapiens Q8WUE5
Validated Y2H
32296183
Intra PRPH P41219 KRT14 Homo sapiens P02533
Y2H Array
32296183
Intra PRPH P41219 KRT14 Homo sapiens P02533
Y2H Prey Pooling
32296183
Intra PRPH P41219 TCEA2 Homo sapiens Q15560
Validated Y2H
32296183
Intra PRPH P41219 LENG1 Homo sapiens Q96BZ8
Validated Y2H
32296183
Intra PRPH P41219 LNX1 Homo sapiens Q8TBB1
Validated Y2H
32296183
Intra PRPH P41219 KRT19 Homo sapiens P08727
Y2H Prey Pooling
32296183
Intra PRPH P41219 KRT19 Homo sapiens P08727
Y2H Array
32296183
Intra PRPH P41219 MAGOHB Homo sapiens Q96A72
Validated Y2H
32296183
Intra PRPH P41219 ZC4H2 Homo sapiens Q9NQZ6
Validated Y2H
32296183
Intra PRPH P41219 ZC4H2 Homo sapiens Q9NQZ6
Y2H Array
32296183
Intra PRPH P41219 ZC4H2 Homo sapiens Q9NQZ6
Y2H Prey Pooling
32296183
Intra PRPH P41219 LCA5L Homo sapiens O95447
Y2H Array
32296183
Intra PRPH P41219 LCA5L Homo sapiens O95447
Y2H Prey Pooling
32296183
Intra PRPH P41219 TTC23 Homo sapiens Q5W5X9-3
Validated Y2H
32296183
Intra PRPH P41219 KRT31 Homo sapiens Q15323
Y2H Array
32296183
Intra PRPH P41219 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
32296183
Intra PRPH P41219 KRT31 Homo sapiens Q15323
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
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
Lateral Sclerosis

Primary Lateral Sclerosis

Adult-Onset Primary Lateral Sclerosis

Adult-Onset Pls

Motor Neuron Disease

Pls

Pls - [Primary Lateral Sclerosis]

Lateral Spinal Sclerosis

Lateral Complete Paralysis

Lateral Incomplete Paralysis

Lateral Paralysis
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2

FTDALS2

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-2

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 2
Amyotrophic Lateral Sclerosis Type 22

Als 22

Amyotrohpic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 22
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3

FTDALS3

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-3

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 3
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4

FTDALS4

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-4

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 4
Amyotrophic Lateral Sclerosis 19

Amyotrophic Lateral Sclerosis Type 19

ALS19

Sclerosis, Lateral, Amyotrophic, Type 19
Amyotrophic Lateral Sclerosis 20

Amyotrophic Lateral Sclerosis Type 20

ALS20

Sclerosis, Lateral, Amyotrophic, Type 20
Amyotrophic Lateral Sclerosis 21

Amyotrophic Lateral Sclerosis Type 21

ALS21

Multisystem Proteinopathy 5

Msp5

Distal Myopathy With Vocal Cord Weakness

Vcpdm

Myopathy, Distal, 2, Formerly

Mpd2, Formerly

Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy, Formerly

Vcpdm, Formerly

Vocal Cord And Pharyngeal Distal Myopathy

Matr3-Related Distal Myopathy

Distal Myopathy 2

Mpd2

Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy

Sclerosis, Lateral, Amyotrophic, Type 21

Myopathy, Distal 2
Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11217 PRPH Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS11218 PRPH2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus PRPH VGNC VGNC:33384
Macaca mulatta PRPH VGNC VGNC:100093
Felis catus PRPH VGNC VGNC:69082
Canis familiaris PRPH VGNC VGNC:45031
Rattus norvegicus PRPH RGD RGD:3414
Mus musculus PRPH MGD MGI:97774
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