1. Gene
  2. PLEKHA7 - pleckstrin homology domain containing A7 Gene

PLEKHA7 - pleckstrin homology domain containing A7 Gene

中文名称:含 pleckstrin 同源结构域 A7

种属: Homo sapiens

基因 ID: 144100 | 基因类型: protein coding

关于 PLEKHA7

Cytogenetic location: 11p15.2-p15.1 Genomic coordinates (GRCh38): 11:16,777,297-17,014,414 (from NCBI)

This gene has 21 transcripts (splice variants), 277 orthologues and 3 paralogues. Ubiquitous expression in esophagus (RPKM 8.9), duodenum (RPKM 8.8) and 24 other tissues.

功能概要

启用 delta-catenin 绑定活动。参与上皮细胞间粘附;孔复合体组装;和 zonula 坚持维护。位于几个细胞成分中,包括中心体;核质;和粘附带。孔复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables delta-catenin binding activity. Involved in epithelial cell-cell adhesion; pore complex assembly; and zonula adherens maintenance. Located in several cellular components, including centrosome; nucleoplasm; and zonula adherens. Part of pore complex. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHA7 基因产物(4)

mRNA Protein Name
NM_001329630.2 NP_001316559.1 pleckstrin homology domain-containing family A member 7 isoform 1
NM_001329631.2 NP_001316560.1 pleckstrin homology domain-containing family A member 7 isoform 3
NM_001410960.1 NP_001397889.1 pleckstrin homology domain-containing family A member 7 isoform 4
NM_175058.5 NP_778228.3 pleckstrin homology domain-containing family A member 7 isoform 2
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 delta-catenin binding IDA
IDA: 通过直接分析推断
19041755 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28877994 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in epithelial cell-cell adhesion IMP
IMP: 通过突变表型推断
19041755 GOA
involved in pore complex assembly IMP
IMP: 通过突变表型推断
30463011 GOA
involved in zonula adherens maintenance IMP
IMP: 通过突变表型推断
19041755 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
19041755 GOA
part of pore complex IMP
IMP: 通过突变表型推断
30463011 GOA
located in zonula adherens IDA
IDA: 通过直接分析推断
19041755 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

PLEKHA7 蛋白结构

PH

PH: PH domain (166 - 280)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1121 a.a.
蛋白主名 其他名称

pleckstrin homology domain-containing family A member 7

PH domain-containing family A member 7

PLEKHA7 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
PLEKHA7 Q6IQ23 YWHAE Homo sapiens P62258 36931259
种属内
PLEKHA7 Q6IQ23 YWHAE Homo sapiens P62258 28877994
种属内
PLEKHA7 Q6IQ23 AGO2 Homo sapiens Q9UKV8 28877994
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
Cleft Lip With Or Without Cleft Palate

Tessier Cleft Number 1,2

Primary Angle-Closure Glaucoma

Primary Angle Closure Glaucoma

Angle Closure Glaucoma

Acg - [Angle Closure Glaucoma]

Angle-Closure Glaucoma

Closed Angle Glaucoma

Acute Glaucoma

Prodromal Angle Closure Glaucoma

Purulent Acute Otitis Media

Acute Suppurative Otitis Media

Acute Or Subacute Suppurative Otitis Media

Acute Or Subacute Purulent Otitis Media

Marshall Syndrome

MRSHS

Deafness, Myopia, Cataract, Saddle Nose-Marshall Type

Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis

Pfapa Syndrome

Pfapa

Marshall Syndrome With Periodic Fever

Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome

Metanephric Adenoma
Renal Adenoma

Renal Cell Adenoma

Chronic Closed-Angle Glaucoma

Anatomical Narrow Angle Glaucoma

Chronic Angle-Closure Glaucoma

Chronic Narrow Angle Glaucoma

Secondary Angle-Closure Glaucoma - Synechial

Blepharocheilodontic Syndrome 1

Blepharocheilodontic Syndrome

Bcd Syndrome

Elschnig Syndrome

Clefting, Ectropion, And Conical Teeth

Lagophthalmia With Bilateral Cleft Lip And Palate

Blepharo-Cheilo-Odontic Syndrome

Bcds

Ectropion, Inferior, With Cleft Lip And/Or Palate

Blepharo-Cheilo-Dontic Syndrome

BCDS1

Ectropion Inferior Cleft Lip And Or Palate

Clefting-Ectropion-Conical Teeth Syndrome

Ectropion Inferior-Cleft Lip And/Or Palate Syndrome

Lagophthalmia-Cleft Lip And Palate Syndrome

Blepharocheilodontic Syndrome, Type 1

Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

Nanophthalmos

Nanophthalmia

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus PLEKHA7 MGD MGI:2445094
Macaca mulatta PLEKHA7 VGNC VGNC:76121
Bos taurus PLEKHA7 VGNC VGNC:33008
Felis catus PLEKHA7 VGNC VGNC:64220
Rattus norvegicus PLEKHA7 RGD RGD:1598216
Canis familiaris PLEKHA7 VGNC VGNC:44671