2. Gene
  3. PRICKLE1 - prickle planar cell polarity protein 1 Gene

PRICKLE1 - prickle planar cell polarity protein 1 Gene

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

中文名称：刺平面细胞极性蛋白 1

种属: Homo sapiens

同用名: RILP; EPM1B

基因 ID: 144165 | 基因类型: protein coding

关于 PRICKLE1

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:42,456,757-42,589,746 (from NCBI)

This gene has 21 transcripts (splice variants), 261 orthologues, 3 paralogues and is associated with 1 phenotype. Broad expression in spleen (RPKM 7.7), endometrium (RPKM 6.7) and 23 other tissues.

功能概要

该基因编码的核受体可能是 Wnt/β-连环蛋白信号通路的负调节因子。编码的蛋白质定位于核膜，并与转录抑制因子 REST/NRSF 和 REST4 的核运输有关。该基因的突变与进行性肌阵挛性癫痫有关。交替剪接导致多个转录本变体。在 3 号染色体上发现了该基因的假基因。[RefSeq 提供，2009 年 9 月]

This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]

PRICKLE1 基因产物(4)

mRNA Protein Name
NM_001144881.2 NP_001138353.1 prickle-like protein 1
NM_001144882.2 NP_001138354.1 prickle-like protein 1
NM_001144883.2 NP_001138355.1 prickle-like protein 1
NM_153026.3 NP_694571.2 prickle-like protein 1
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
14645515 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
17030191 GOA
involved in negative regulation of canonical Wnt signaling pathway IDA
IDA: 通过直接分析推断
17030191 GOA
involved in negative regulation of cardiac muscle cell myoblast differentiation IDA
IDA: 通过直接分析推断
21199191 GOA
involved in neural tube closure IMP
IMP: 通过突变表型推断
21901791 GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
17030191 GOA
involved in positive regulation of protein ubiquitination IDA
IDA: 通过直接分析推断
17030191 GOA
involved in protein import into nucleus IDA
IDA: 通过直接分析推断
21199191 GOA
involved in protein import into nucleus IMP
IMP: 通过突变表型推断
14645515 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
14645515 GOA
located in nuclear membrane IDA
IDA: 通过直接分析推断
14645515 GOA
located in nucleus IDA
IDA: 通过直接分析推断
14645515 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

PRICKLE1 蛋白结构

PET

PET: PET Domain (15 - 117)

LIM

LIM: LIM domain (126 - 185)

LIM

LIM: LIM domain (191 - 244)

LIM

LIM: LIM domain (251 - 304)

  • 0
  • 200
  • 400
  • 600
  • 831 a.a.
蛋白主名 其他名称

prickle-like protein 1

REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein

PRICKLE1 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 PRICKLE1 Q96MT3 UTP14C Homo sapiens Q08E77
Y2H Array
25416956
Intra PRICKLE1 Q96MT3 PRPF31 Homo sapiens Q8WWY3
Validated Y2H
25416956
Intra PRICKLE1 Q96MT3 PRPF31 Homo sapiens Q8WWY3
Y2H Prey Pooling
25416956
Cross PRICKLE1 Q96MT3 Rest Mus musculus Q8VIG1
Anti Tag CoIP
14645515
Cross PRICKLE1 Q96MT3 Rest Mus musculus Q8VIG1
Anti Tag CoIP
18976727
Intra PRICKLE1 Q96MT3 DVL3 Homo sapiens Q92997
Anti Tag CoIP
17030191
Intra PRICKLE1 Q96MT3 KIF9 Homo sapiens Q9HAQ2
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
Epilepsy, Progressive Myoclonic, 1b

EPM1B

Epilepsy, Progressive Myoclonic 1b

Prickle1-Related Progressive Myoclonus Epilepsy With Ataxia

Pme With Ataxia

Prickle1-Related Progressive Myoclonic Epilepsy With Ataxia

Progressive Myoclonic Epilepsy 1b

Progressive Myoclonus Epilepsy With Ataxia

Epilepsy, Progressive Myoclonic, Type 1b
Myoclonic Epilepsy Of Unverricht And Lundborg

Progressive Myoclonic Epilepsy

Uld

EPM1

Pme

Epm1a

Baltic Myoclonic Epilepsy

Progressive Myoclonic Epilepsy Type 1

Unverricht-Lundborg Disease

Familial Progressive Myoclonic Epilepsy

Epilepsy, Progressive Myoclonic 1

Epilepsy, Progressive Myoclonic, 1a

Epilepsy, Progressive Myoclonic, 1

Myoclonic Epilepsy, Progressive

Epilepsy, Progressive Myoclonic 1a

Progressive Myoclonus Epilepsy Type 1

Progressive Myoclonus Epilepsy

Epilepsy Progressive Myoclonic

Progressive Myoclonic Epilepsy 1

Progressive Myoclonic Epilepsy 1a

Progressive Myoclonic Epilepsy Unverricht-Lundborg Type

Epilepsy, Myoclonic, Progressive

Epilepsy, Myoclonic, Progressive, Type 1a

Unverricht-Lundborg Syndrome

Myoclonic Epilepsies, Progressive
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome
Myoclonus
Progressive Myoclonus Epilepsy 1b

Epm1b
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Myoclonus Epilepsy

Epilepsies, Myoclonic
Myelomeningocele

Meningomyelocele
Spinal Cord Lipoma

Lipoma Of Spinal Cord
Coffin-Siris Syndrome 6

CSS6

Coffin-Siris Syndrome, Type 6
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
Chromosome 17q23.1-Q23.2 Deletion Syndrome

17q23.1q23.2 Microdeletion Syndrome

17q23.1-Q23.2 Microdeletion Syndrome

Del(17)(Q23.1q23.2)

Monosomy 17q23.1q23.2

Monosomy 17q23.1-Q23.2
Anencephaly

Aprosencephaly

Anencephalus

Congenital Absence Of Brain

Absence Of A Large Part Of The Brain And The Skull

Anencephalia

Anencephalic Monster

Brain Absence

Brain Agenesis

Brain Aplasia

Absent Brain

Anencephalic

Congenital Absence Of Cerebrum

Congenital Hemicrania

Incomplete Anencephaly
Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease

Epm1

Myoclonic Epilepsy Of Unverricht And Lundborg

Myoclonus Progressive Epilepsy Of Unverricht And Lundborg

Unverricht - Lundborg Disease

Unverricht'S Disease

Epilepsy, Progressive Myoclonic Type 1

Epilepsy, Progressive Myoclonus 1

Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy

Baltic Myoclonic Epilepsy

Baltic Myoclonus

Baltic Myoclonus Epilepsy

Lundborg-Unverricht Syndrome

Mediterranean Myoclonic Epilepsy

Pme

Progressive Myoclonic Epilepsy

Progressive Myoclonus Epilepsy 1

Uld

Myoclonic Epilepsies, Progressive
Central Nervous System Lipoma

Lipoma Of The Cns
Progressive Myoclonus Epilepsy 4

Action Myoclonus-Renal Failure Syndrome

Amrf

Epm4

Myoclonus-Nephropathy Syndrome
Progressive Myoclonus Epilepsy 7

Epm7

Meak

Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation

Pme Type 7

Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency

Progressive Myoclonus Epilepsy Type 7
Progressive Myoclonus Epilepsy 6

Progressive Myoclonic Epilepsy Type 6

Epm6

Gosr2-Related Progressive Myoclonus Ataxia

North Sea Progressive Myoclonus Epilepsy

Pme Type 6

Progressive Myoclonus Epilepsy Type 6

Epilepsy, Progressive Myoclonic, 6
Progressive Myoclonus Epilepsy 1a

Epm1a
Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Fetal Face Syndrome

Robinow Dwarfism

Mesomelic Dwarfism-Small Genitalia Syndrome

Robinow-Silverman-Smith Syndrome

Costovertebral Segmentation Defect With Mesomelia

Covesdem Syndrome

Robinow'S Syndrome

Robinow-Silverman Syndrome
Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome

Caudal Regression Sequence

Sacral Agenesis

Caudal Dysgenesis Syndrome

SDAM

Caudal Dysplasia Sequence

Caudal Dysplasia

Sacral Agenesis Syndrome

Sacral Regression Syndrome

Sacral Defect And Anterior Sacral Meningocele

Rudd Klimek Syndrome

Sirenomelia
Lacrimoauriculodentodigital Syndrome

Ladd Syndrome

Levy-Hollister Syndrome

Lacrimo-Auriculo-Dento-Digital Syndrome

LADD

Lacrimoauriculodento-Digital Syndrome

Levy Hollister Syndrome

Lard Syndrome

Lacrimoauriculoradiodental Syndrome

LADDS

Congenital Duodenal Obstruction Due To Malrotation Of Intestine
Agnathia-Otocephaly Complex

Otocephaly

Holoprosencephaly-Agnathia

Dysgnathia Complex Agnathia-Holoprosencephaly

AGOTC

Agnathia-Holoprosencephaly-Situs Inversus Syndrome

Dysgnathia Complex

Agnathia-Holoprosencephaly

Cervical Auricle
Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts
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-RS11093 PRICKLE1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PRICKLE1 VGNC VGNC:76271
Rattus norvegicus PRICKLE1 RGD RGD:735090
Canis familiaris PRICKLE1 VGNC VGNC:44965
Felis catus PRICKLE1 VGNC VGNC:64353
Mus musculus PRICKLE1 MGD MGI:1916034
Bos taurus PRICKLE1 VGNC VGNC:33315
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z