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  3. PKP1 - plakophilin 1 Gene

PKP1 - plakophilin 1 Gene

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

中文名称：plakophilin 1

种属: Homo sapiens

同用名: B6P; EDSFS

基因 ID: 5317 | 基因类型: protein coding

关于 PKP1

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:201,283,506-201,332,989 (from NCBI)

This gene has 5 transcripts (splice variants), 262 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in skin (RPKM 358.6) and esophagus (RPKM 152.0).

功能概要

该基因编码臂重复 (犰狳) 和 plakophilin 基因家族的成员。 Plakophilin 蛋白包含大量犰狳重复序列，定位于细胞桥粒和细胞核，并参与将钙粘蛋白连接到细胞骨架中的中间丝。这种蛋白质可能参与桥粒形成过程中的分子募集和稳定。该基因的突变与外胚层发育不良/皮肤脆弱综合征有关。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2010 年 7 月]

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking Cadherins to intermediate filaments in the Cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

PKP1 基因产物(2)

mRNA Protein Name
NM_000299.4 NP_000290.2 plakophilin-1 isoform 1b
NM_001005337.3 NP_001005337.1 plakophilin-1 isoform 1a
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 DNA binding IDA
IDA: 通过直接分析推断
20613778 GOA
enables lamin binding IDA
IDA: 通过直接分析推断
10852826 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10852826 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intermediate filament bundle assembly IDA
IDA: 通过直接分析推断
10852826 GOA
involved in negative regulation of mRNA catabolic process IMP
IMP: 通过突变表型推断
25225333 GOA
involved in positive regulation of cap-dependent translational initiation IMP
IMP: 通过突变表型推断
23444369 GOA
involved in positive regulation of cell-cell adhesion IMP
IMP: 通过突变表型推断
23444369 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
25225333 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
20156963 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
20613778 GOA
located in desmosome IDA
IDA: 通过直接分析推断
20613778 GOA
located in nuclear stress granule IDA
IDA: 通过直接分析推断
20156963 GOA
located in nucleus IDA
IDA: 通过直接分析推断
20613778 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
20156963 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
20156963 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

PKP1 蛋白结构

Arm

Arm: Armadillo/beta-catenin-like repeat (279 - 315)

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

plakophilin-1

band 6 protein

PKP1 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 PKP1 Q13835 GTF2IRD1 Homo sapiens Q9UHL9
Y2H
26275350
Intra PKP1 Q13835 TNS2 Homo sapiens Q63HR2
Y2H Prey Pooling
25416956
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
Ectodermal Dysplasia/Skin Fragility Syndrome

Mcgrath Syndrome

Ectodermal Dysplasia-Skin Fragility Syndrome

Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency

EDSFS

Ectodermal Dysplasia Skin Fragility Syndrome

Ectodermal Dysplasia - Skin Fragility Syndrome

Dysplasia, Ectodermal, Skin Fragility Syndrome

Ectodermal Dysplasia/ Skin Fragility Syndrome
Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal
Epidermolysis Bullosa

Acantholysis Bullosa

Eb
Pemphigus
Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation

Epidermolysis Bullosa Simplex With Mottled Pigmentation

Ebsmp

Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering

Ebs-Mp

EBS2F

Ebs With Mottled Pigmentation

Epidermolysis Bullosa Simplex-Mp

Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering

Epidermolysis Bullosa Simplex, With Mottled Pigmentation
Naxos Disease

Mal De Naxos

NXD

Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities

Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities

Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair

Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy

Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy

Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair

Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities

Kwwh Type I

Keratoderma With Woolly Hair Type I

Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy

Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Arrhythmogenic Right Ventricular Dysplasia 13

ARVD13

Arrhythmogenic Right Ventricular Cardiomyopathy 13

Arvc13

Familial Arrhythmogenic Right Ventricular Dysplasia 13

Dysplasia, Ventricular, Right, Arrhythmogenic, Familial, Type 13
Epidermolysis Bullosa Simplex 1a, Generalized Severe

Epidermolysis Bullosa Simplex, Dowling-Meara Type

Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

EBS1A

Ebsdm

Epidermolysis Bullosa Simplex Dowling-Meara Type

Epidermolysis Bullosa Simplex, Herpetiformis

Ebs-Dm

Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type

Ebs-Gen Sev

Epidermolysis Bullosa Herpetiformis Dowling-Meara Type

Generalized Severe Epidermolysis Bullosa Simplex

Dowling-Meara Type Epidermolysis Bullosa Simplex

Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form

Autosomal Dominant Generalized Ebs, Severe Form

Epidermolysis Bullosa Simplex Herpetiformis

Dm-Ebs

Epidermolysis Bullosa Simplex, Generalized Severe

Epidermolysis Bullosa Herpetiformis, Dowling-Meara

Epidermolysis Bullosa Herpetiformis Dowling-Meara
N1 Diffuse Large B-Cell Lymphoma

N1 Dlbcl

Doid:0081067
Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma

Carvajal Syndrome

Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair

DCWHK

Dilated Cardiomyopathy With Woolly Hair And Keratoderma

Cardiomyopathy Dilated With Woolly Hair And Keratoderma

Kwwh Type Ii

Keratoderma With Woolly Hair Type Ii

Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy

Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy

Cardiomyopathy, Dilated With Woolly Hair And Keratoderma
Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma

NEPPK

Tylosis

Unna-Thost Syndrome

Keratoderma, Palmoplantar, Diffuse

Ppkne

Keratoderma, Nonepidermolytic Palmoplantar

Diffuse Nonepidermolytic Palmomplantar Keratoderma

Thost-Unna Syndrome

Non-Epidermolytic Palmoplantar Keratoderma

Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type

Diffuse Palmoplantar Keratoderma, Bothnian Type

Krt1-Related Diffuse Nonepidermolytic Keratoderma

Krt1-Related Diffuse Neppk

Keratoderma, Palmoplantar, Non-Epidermolytic

Nonepidermolytic Unna-Thost Disease

Non-Epidermolytic Unna-Thost Disease

Keratoderma, Palmoplantar, Nonepidermolytic

Hyperkeratosis
Tooth Ankylosis

Ankylosis Of Teeth

Ankylosis Of Tooth
Hodgkin'S Lymphoma, Lymphocytic-Histiocytic Predominance

Hodgkin Disease

Hodgkin Lymphoma, Lymphocyte-Rich

Hodgkin Lymphoma, Lymphocytic-Histiocytic Predominance

Hodgkin'S Disease, Lymphocyte Predominance

Lymphocyte Rich Hodgkin'S Disease

Lymphocyte Rich Classical Hodgkin Lymphoma
Palmoplantar Keratosis

Palmoplantar Keratoderma

Keratosis Palmaris Et Plantaris

Palmo-Plantar Keratodermas

Keratoderma, Palmoplantar

Keratoderma Palmoplantar

Keratoderma, Palmoplantar, Diffuse

Hyperkeratosis Of Palms And Soles

Palmoplantar Hyperkeratosis
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

Hay-Wells Syndrome

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome

Aec Syndrome

AEC

Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome

Seres-Santamaria Arimany Muniz Syndrome

Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects

Ankyloblepharon Ectodermal Defects Cleft Lip/Palate

Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate

Rapp-Hodgkin Syndrome
Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous
Hypotrichosis 2

HYPT2

Hypotrichosis Simplex Of The Scalp 1

Htss1

Htss

Hypotrichosis, Spanish Type

Spanish Type Hypotrichosis

Hypotrichosis Spanish Type

Hypotrichosis, Type 2

Hypotrichosis Simplex Of Scalp
Epidermolysis Bullosa Simplex

Ebs

Epidermolysis Bullosa Intraepidermic

Epidermolytic Epidermolysis Bullosa
Squamous Cell Carcinoma, Head And Neck

Squamous Cell Carcinoma Of The Head And Neck

HNSCC

Head And Neck Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Lip

Squamous Cell Carcinoma, Head And Neck, Somatic

Carcinoma Of The Head And Neck

Squamous Cell Carcinomas Of Head And Neck

Scchn

Squamous Cell Carcinoma Of The Hypopharynx

Squamous Cell Carcinoma Of The Oropharynx

Squamous Cell Carcinoma Of Salivary Glands

Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses

Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses

Squamous Cell Carcinoma Of The Oral Cavity

Squamous Cell Carcinoma Of The Lip

Carcinoma, Squamous Cell Of Head And Neck

Lip Squamous Cell Carcinoma

Carcinoma, Squamous Cell, Head And Neck

Salivary Gland Squamous Cell Carcinoma

Cancer Of Head And Neck

Squamous Cell Carcinoma Of Oropharynx Nos
Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular
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-RS10611 PKP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PKP1 RGD RGD:1307472
Macaca mulatta PKP1 VGNC VGNC:76151
Bos taurus PKP1 VGNC VGNC:97302
Felis catus PKP1 VGNC VGNC:97558
Mus musculus PKP1 MGD MGI:1328359
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