2. Gene
  3. PLEKHA1 - pleckstrin homology domain containing A1 Gene

PLEKHA1 - pleckstrin homology domain containing A1 Gene

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

中文名称：含 pleckstrin 同源结构域 A1

种属: Homo sapiens

同用名: TAPP1

基因 ID: 59338 | 基因类型: protein coding

关于 PLEKHA1

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:122,374,708-122,442,600 (from NCBI)

This gene has 8 transcripts (splice variants), 281 orthologues and 1 paralogue. Ubiquitous expression in skin (RPKM 23.3), lung (RPKM 17.3) and 24 other tissues.

功能概要

该基因编码含有 pleckstrin 同源结构域的衔接蛋白。编码的蛋白质定位于质膜，在那里它特异性结合磷脂酰肌醇 3,4-二磷酸。这种蛋白质可能参与质膜中信号复合物的形成。该基因的多态性与年龄相关性黄斑变性有关。交替剪接导致多个转录本变体。在 5 号染色体上发现了该基因的假基因。[RefSeq 提供，2010 年 9 月]

This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]

PLEKHA1 基因产物(30)

mRNA Protein Name
NM_001001974.4 NP_001001974.1 pleckstrin homology domain-containing family A member 1 isoform 1
NM_001195608.2 NP_001182537.1 pleckstrin homology domain-containing family A member 1 isoform 2
NM_001330178.2 NP_001317107.1 pleckstrin homology domain-containing family A member 1 isoform 3
NM_001377230.1 NP_001364159.1 pleckstrin homology domain-containing family A member 1 isoform 1
NM_001377231.1 NP_001364160.1 pleckstrin homology domain-containing family A member 1 isoform 1
NM_001377232.1 NP_001364161.1 pleckstrin homology domain-containing family A member 1 isoform 1
NM_001377234.1 NP_001364163.1 pleckstrin homology domain-containing family A member 1 isoform 1
NM_001377235.1 NP_001364164.1 pleckstrin homology domain-containing family A member 1 isoform 1
NM_001377237.1 NP_001364166.1 pleckstrin homology domain-containing family A member 1 isoform 2
NM_001377238.1 NP_001364167.1 pleckstrin homology domain-containing family A member 1 isoform 2
NM_001377240.1 NP_001364169.1 pleckstrin homology domain-containing family A member 1 isoform 3
NM_001377241.1 NP_001364170.1 pleckstrin homology domain-containing family A member 1 isoform 3
NM_001377242.1 NP_001364171.1 pleckstrin homology domain-containing family A member 1 isoform 3
NM_001377243.1 NP_001364172.1 pleckstrin homology domain-containing family A member 1 isoform 3
NM_001377244.1 NP_001364173.1 pleckstrin homology domain-containing family A member 1 isoform 3
NM_001377245.1 NP_001364174.1 pleckstrin homology domain-containing family A member 1 isoform 4
NM_001377246.1 NP_001364175.1 pleckstrin homology domain-containing family A member 1 isoform 4
NM_001377247.1 NP_001364176.1 pleckstrin homology domain-containing family A member 1 isoform 5
NM_001377248.1 NP_001364177.1 pleckstrin homology domain-containing family A member 1 isoform 6
NM_001377249.1 NP_001364178.1 pleckstrin homology domain-containing family A member 1 isoform 7
NM_001377250.1 NP_001364179.1 pleckstrin homology domain-containing family A member 1 isoform 8
NM_001377251.1 NP_001364180.1 pleckstrin homology domain-containing family A member 1 isoform 9
NM_001377252.1 NP_001364181.1 pleckstrin homology domain-containing family A member 1 isoform 10
NM_001377253.1 NP_001364182.1 pleckstrin homology domain-containing family A member 1 isoform 10
NM_001377254.1 NP_001364183.1 pleckstrin homology domain-containing family A member 1 isoform 10
NM_001377255.1 NP_001364184.1 pleckstrin homology domain-containing family A member 1 isoform 11
NM_001377256.1 NP_001364185.1 pleckstrin homology domain-containing family A member 1 isoform 12
NM_001377257.1 NP_001364186.1 pleckstrin homology domain-containing family A member 1 isoform 13
NM_001377258.1 NP_001364187.1 pleckstrin homology domain-containing family A member 1 isoform 14
NM_021622.5 NP_067635.2 pleckstrin homology domain-containing family A member 1 isoform 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 PDZ domain binding IPI
IPI: 通过物理相互作用推断
11802782 GOA
enables phosphatidylinositol-3,4-bisphosphate binding IDA
IDA: 通过直接分析推断
11001876 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11802782 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in B cell receptor signaling pathway IDA
IDA: 通过直接分析推断
12101241 GOA
involved in cellular response to hydrogen peroxide IDA
IDA: 通过直接分析推断
14516276 GOA
involved in establishment of protein localization IDA
IDA: 通过直接分析推断
14516276 GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
IMP: 通过突变表型推断
14516276 GOA
involved in phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: 通过直接分析推断
12101241 GOA
involved in ruffle organization IDA
IDA: 通过直接分析推断
15485858 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
12101241 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
12101241 GOA
located in ruffle membrane IDA
IDA: 通过直接分析推断
12101241 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

PLEKHA1 蛋白结构

PH

PH: PH domain (18 - 112)

PH

PH: PH domain (192 - 285)

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

pleckstrin homology domain-containing family A member 1

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1

PLEKHA1 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
PLEKHA1 Q9HB21 SH3BP4 Homo sapiens Q9P0V3
Anti Tag CoIP
18654987
种属内
PLEKHA1 Q9HB21 MPDZ Homo sapiens O75970
Pull Down
11802782
种属内
PLEKHA1 Q9HB21 MPDZ Homo sapiens O75970
Anti Bait CoIP
11802782
种属间: 跨种属相互作用 种属内: 同种属相互作用

PLEKHA1 抗体

目录号 产品名 应用 反应物种
HY-P82400 PLEKHA1 Antibody (YA2145) WB, IP Human

关联疾病

疾病名称 别名
Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2
Childhood Kidney Cell Carcinoma

Pediatric Renal Cell Carcinoma

Childhood Renal Cell Carcinoma
Degeneration Of Macula And Posterior Pole

Degeneration Of Macula And Posterior Pole Of Retina

Degeneration Of Macula Or Posterior Pole

Macular Degeneration Nos

Degenerative Disorder Of Macula

Drusen Macular Degeneration

Posterior Pole Macular Degeneration Of Eye

Macular Eye Degeneration

Macular Degeneration Of Retina, Unspecified

Pseudohole Degeneration Of Macula Of Retina
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-RS10679 PLEKHA1 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 PLEKHA1 RGD RGD:1564153
Bos taurus PLEKHA1 VGNC VGNC:33003
Mus musculus PLEKHA1 MGD MGI:2442213
Macaca mulatta PLEKHA1 VGNC VGNC:76025
Canis familiaris PLEKHA1 VGNC VGNC:44667
Felis catus PLEKHA1 VGNC VGNC:64216
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