1. Gene
  2. AP2A1 - adaptor related protein complex 2 subunit alpha 1 Gene

AP2A1 - adaptor related protein complex 2 subunit alpha 1 Gene

中文名称:适配器相关蛋白复合物 2 亚基 alpha 1

种属: Homo sapiens

同用名: ADTAA; CLAPA1; AP2-ALPHA

基因 ID: 160 | 基因类型: protein coding

关于 AP2A1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,767,001-49,807,114 (from NCBI)

This gene has 8 transcripts (splice variants), 195 orthologues and 4 paralogues. Broad expression in testis (RPKM 42.9), brain (RPKM 24.7) and 25 other tissues.

功能概要

该基因编码在网格蛋白包被的囊泡中发现的衔接蛋白 2 (AP-2) 复合物的 alpha 1 衔接蛋白亚基。 AP-2 复合体是一种异四聚体,由两个大适应蛋白 (α 或β) 、一个中等适应蛋白 (mu) 和一个小适应蛋白 (sigma) 组成。该复合物是包被囊泡细胞质面上蛋白质包被的一部分,它将网格蛋白连接到囊泡中的受体。该基因的可变剪接导致编码两种不同亚型的两种转录变体。已经描述了第三个转录本变体,但其全长性质尚未确定。[RefSeq 提供,2008 年 7 月]

This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]

AP2A1 基因产物(2)

mRNA Protein Name
NM_014203.3 NP_055018.2 AP-2 complex subunit alpha-1 isoform 1
NM_130787.3 NP_570603.2 AP-2 complex subunit alpha-1 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 low-density lipoprotein particle receptor binding IPI
IPI: 通过物理相互作用推断
26005850 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16262731 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in clathrin-dependent endocytosis IDA
IDA: 通过直接分析推断
23676497 GOA
involved in clathrin-dependent endocytosis IMP
IMP: 通过突变表型推断
22262466 GOA
involved in negative regulation of hyaluronan biosynthetic process IDA
IDA: 通过直接分析推断
24251095 GOA
involved in negative regulation of hyaluronan biosynthetic process IMP
IMP: 通过突变表型推断
23509262 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of AP-2 adaptor complex IDA
IDA: 通过直接分析推断
23676497 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

AP2A1 蛋白结构

Adaptin_N

Adaptin_N: Adaptin N terminal region (31 - 589)

Alpha_adaptinC2

Alpha_adaptinC2: Adaptin C-terminal domain (751 - 857)

Alpha_adaptin_C

Alpha_adaptin_C: Alpha adaptin AP2, C-terminal domain (864 - 972)

  • 0
  • 200
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  • 800
  • 977 a.a.
蛋白主名 其他名称

AP-2 complex subunit alpha-1

100 kDa coated vesicle protein A

AP2A1 抗体

目录号 产品名 应用 反应物种
HY-P82550 alpha 1-adaptin Antibody (YA2295) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
Hypocalciuric Hypercalcemia, Familial, Type Iii

HHC3

Familial Hypocalciuric Hypercalcemia 3

Fbh3

Familial Hypocalciuric Hypercalcemia Type 3

Hypercalcemia, Familial Benign, Oklahoma Type

Hypocalciuric Hypercalcemia, Type Iii

Fhh Type 3

Hypocalciuric Hypercalcemia Type Iii

Familial Benign Hypercalcemia, Type Iii

Hypercalcemia, Familial Benign, Type Iii

Fbhok

Familial Benign Hypercalcemia, Oklahoma Variant

Familial Benign Hypercalcemia, Type 3

Hypercalcemia, Familial Benign, Type 3

Hypocalciuric Hypercalcemia, Familial, Type 3

Hypocalciuric Hypercalcemia, Familial 3

Familial Benign Hypercalcemia 3

Familial Benign Hypercalcemia Oklahoma Type

Familial Benign Hypocalciuric Hypercalcemia 3

Fbhh3

Fhh3

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
Bos taurus AP2A1 VGNC VGNC:25983
Canis familiaris AP2A1 VGNC VGNC:37958
Macaca mulatta AP2A1 VGNC VGNC:69962
Mus musculus AP2A1 MGD MGI:101921
Rattus norvegicus AP2A1 RGD RGD:1306254
Felis catus AP2A1 VGNC VGNC:67724