1. Gene
  2. AAK1 - AP2 associated kinase 1 Gene

AAK1 - AP2 associated kinase 1 Gene

中文名称:AP2 相关激酶 1

种属: Homo sapiens

基因 ID: 22848 | 基因类型: protein coding

关于 AAK1

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:69,457,997-69,643,739 (from NCBI)

This gene has 13 transcripts (splice variants), 268 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 7.8), thyroid (RPKM 4.9) and 24 other tissues.

功能概要

该基因编码丝氨酸/苏氨酸蛋白激酶 SNF1 亚家族的成员。适配器相关蛋白复合物 2 (AP-2 复合物) 在受体介导的内吞作用期间发挥作用,触发网格蛋白组装、与膜结合受体相互作用,并募集内分泌辅助因子。编码的蛋白质与 AP-2 复合物的一个亚基相互作用并磷酸化,这促进了 AP-2 与膜结合受体中发现的分选信号的结合以及随后的受体内吞作用。其激酶活性受网格蛋白刺激。该激酶已被证明在调节网格蛋白介导的狂犬病病毒内吞作用、促进感染中发挥重要作用。这种激酶的抑制剂正在作为候选疗法进行研究,以破坏包括 SARS-CoV-2 在内的病毒进入靶细胞。它还参与哺乳动物 Notch 通路信号的正向调节。已经描述了选择性剪接的转录本变体,但尚未确定它们的生物学有效性。[RefSeq 提供,2020 年 8 月]

This gene encodes a member of the SNF1 subfamily of serine/threonine protein kinases. Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. The encoded protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. This kinase has been shown to play an important role in regulating the clathrin-mediated endocytosis of the rabies virus, facilitating Infection. Inhibitors of this kinase are being studied as candidate therapeutics to disrupt the entry of viruses, including SARS-CoV-2, into target cells. It is also involved in positive regulation of Notch pathway signaling in mammals. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Aug 2020]

AAK1 基因产物(3)

mRNA Protein Name
NM_001371577.1 NP_001358506.1 AP2-associated protein kinase 1 isoform 3
NM_014911.5 NP_055726.4 AP2-associated protein kinase 1 isoform 1
NM_001371575.1 NP_001358504.1 AP2-associated protein kinase 1 isoform 2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables AP-2 adaptor complex binding IDA
IDA: 通过直接分析推断
17494869 GOA
enables Notch binding IDA
IDA: 通过直接分析推断
21464124 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22645275 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of Notch signaling pathway IDA
IDA: 通过直接分析推断
21464124 GOA
involved in protein phosphorylation IDA
IDA: 通过直接分析推断
17494869 GOA
involved in protein stabilization IDA
IDA: 通过直接分析推断
21464124 GOA
involved in regulation of clathrin-dependent endocytosis IDA
IDA: 通过直接分析推断
18657069 GOA
involved in regulation of clathrin-dependent endocytosis IMP
IMP: 通过突变表型推断
17494869 GOA
involved in regulation of protein localization IDA
IDA: 通过直接分析推断
18657069 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

AAK1 蛋白结构

Pkinase

Pkinase: Protein kinase domain (47 - 307)

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

AP2-associated protein kinase 1

adaptor-associated kinase 1

关联疾病

疾病名称 别名
Ebola Hemorrhagic Fever

Ebola Virus Disease

Viral Hemorrhagic Fever

Hemorrhagic Fever, Ebola

Ehf

Ebola Fever

Ebola

Hemorrhagic Fevers, Viral

Ebola Haemorrhagic Fever

Ebod - [Ebola Disease]

Evd - [Ebola Virus Disease]

Ebola Virus Haemorrhagic Fever

Vhf - [Viral Haemorrhagic Fever] Nos

Viral Haemorrhagic Fever, Not Otherwise Specified

Critical Covid-19
Hepatitis

Chronic Hepatitis

Chronic Persistent Hepatitis

Acute Hepatitis

Hepatitis, Chronic

Acute And Subacute Liver Necrosis

Acute/Subac. Necrosis Of Liver

Animal Hepatitis

Hepatitis Chronic

Hepatitis A

Hepatitis, Animal

Hepatitis Due To Toxoplasmosis

Hepatitis In Toxoplasmosis

Toxoplasmal Hepatitis

Chronic Hepatitis, Unspecified

Chronic Active Hepatitis Nec

Other Specified Chronic Hepatitis

Chronic Persistent Hepatitis Nec

Chronic Lobular Hepatitis Nec

Rabies

Lyssa

Hydrophobia

St Hubert Disease

Cone-Rod Dystrophy 19

CORD19

Dystrophy, Cone-Rod, Type 19

Hepatitis C

Chronic Hepatitis C

Hepatitis C Infection

Hepatitis Nona Nonb

Nanbh

Viral Hepatitis C

Hepatitis C Chronic

Hepatitis C, Chronic

Chronic Type C Viral Hepatitis

Chronic Hcv - [Hepatitis C Virus] Infection

Hepatitis C Nos

Hepatitis C Infection Nos

Hepatitis C-Related Cirrhosis

Type C Viral Hepatitis

Hep C Nos

Hepatitis C Virus

Hepatitis C Virus, Susceptibility To

Hepatitis C Virus Infection, Response To Therapy Of

Hcv

Hcv, Susceptibility To

Hepatitis C Virus, Resistance To

Hepatitis C Virus, Response To Therapy Of

Resistance To Hepatitis C Virus

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
Felis catus AAK1 VGNC VGNC:59451
Canis familiaris AAK1 VGNC VGNC:37410
Mus musculus AAK1 MGD MGI:1098687
Rattus norvegicus AAK1 RGD RGD:1305520
Macaca mulatta AAK1 VGNC VGNC:82094
Bos taurus AAK1 VGNC VGNC:25443
Others AAK1 NCBI