2. Gene
  3. PHACTR1 - phosphatase and actin regulator 1 Gene

PHACTR1 - phosphatase and actin regulator 1 Gene

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

中文名称：磷酸酶和肌动蛋白调节因子 1

种属: Homo sapiens

同用名: RPEL; DEE70; RPEL1; EIEE70; dJ257A7.2

基因 ID: 221692 | 基因类型: protein coding

关于 PHACTR1

Cytogenetic location: 6p24.1 Genomic coordinates (GRCh38): 6:12,716,767-13,287,837 (from NCBI)

This gene has 27 transcripts (splice variants), 302 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 12.6), bone marrow (RPKM 5.8) and 12 other tissues.

功能概要

该基因编码的蛋白质是磷酸酶和肌动蛋白调节蛋白家族的成员。该家族成员可以结合肌动蛋白并调节肌动蛋白细胞骨架的重组。它在小管形成和内皮细胞存活中起作用。该基因的多态性与心肌梗塞、冠状动脉疾病和颈动脉夹层的易感性有关。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2016 年 4 月]

The protein encoded by this gene is a member of the Phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin Cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

PHACTR1 基因产物(13)

mRNA Protein Name
NM_001242648.4 NP_001229577.1 phosphatase and actin regulator 1 isoform a
NM_001322308.3 NP_001309237.1 phosphatase and actin regulator 1 isoform a
NM_001322309.3 NP_001309238.1 phosphatase and actin regulator 1 isoform a
NM_001322310.2 NP_001309239.1 phosphatase and actin regulator 1 isoform b
NM_001322311.2 NP_001309240.1 phosphatase and actin regulator 1 isoform c
NM_001322312.3 NP_001309241.1 phosphatase and actin regulator 1 isoform c
NM_001322313.2 NP_001309242.1 phosphatase and actin regulator 1 isoform d
NM_001322314.4 NP_001309243.1 phosphatase and actin regulator 1 isoform e
NM_001374581.2 NP_001361510.1 phosphatase and actin regulator 1 isoform f
NM_001374582.1 NP_001361511.1 phosphatase and actin regulator 1 isoform g
NM_001374583.2 NP_001361512.1 phosphatase and actin regulator 1 isoform h
NM_001374584.1 NP_001361513.1 phosphatase and actin regulator 1 isoform i
NM_030948.6 NP_112210.1 phosphatase and actin regulator 1 isoform a
基因本体论
  • 分子功能
  • 生物过程
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
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actomyosin structure organization IMP
IMP: 通过突变表型推断
22976292 GOA
involved in cell motility IMP
IMP: 通过突变表型推断
22976292 GOA
involved in stress fiber assembly IMP
IMP: 通过突变表型推断
22976292 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

PHACTR1 蛋白结构

RPEL

RPEL: RPEL repeat (139 - 161)

RPEL

RPEL: RPEL repeat (422 - 446)

RPEL

RPEL: RPEL repeat (461 - 485)

RPEL

RPEL: RPEL repeat (499 - 521)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 580 a.a.
蛋白主名 其他名称

phosphatase and actin regulator 1

RPEL repeat containing 1

PHACTR1 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
PHACTR1 Q9C0D0 CBX8 Homo sapiens Q9HC52
Validated Y2H
32296183
种属内
PHACTR1 Q9C0D0 C14orf119 Homo sapiens Q9NWQ9
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
Developmental And Epileptic Encephalopathy 70

DEE70

Epileptic Encephalopathy, Early Infantile, 70

Eiee70

Developmental And Epileptic Encephalopathy, 70

Early Infantile Epileptic Encephalopathy 70

Encephalopathy, Epileptic, Early Infantile, Type 70
West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic
Fibromuscular Dysplasia
Migraine Without Aura

Common Migraine

Migraine With Or Without Aura, Susceptibility To

Migraine Without Aura, Susceptibility To

Acute Migraine Without Aura
Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1
Carotid Artery Dissection

Dissection Of Carotid Artery
Gallbladder Melanoma

Malignant Melanoma Of Gallbladder
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To
Moyamoya Disease 1

Moyamoya Disease

Spontaneous Occlusion Of The Circle Of Willis

Mymy

Progressive Intracranial Arterial Occlusion

Moyamoya Syndrome

MYMY1

Cerebrovascular Moyamoya Disease

Moya-Moya Disease

Progressive Intracranial Occlusive Arteropathy

Idiopathic Moyamoya Disease
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-RS10402 PHACTR1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus PHACTR1 VGNC VGNC:64128
Mus musculus PHACTR1 MGD MGI:2659021
Canis familiaris PHACTR1 VGNC VGNC:49769
Rattus norvegicus PHACTR1 RGD RGD:1303187
Macaca mulatta PHACTR1 VGNC VGNC:75841
Bos taurus PHACTR1 VGNC VGNC:32804
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