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

AAK1 - AP2 associated kinase 1 Gene

Homo sapiens
Gene ID: 22848 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables AP-2 adaptor complex binding IDA
IDA: Inferred from direct assay
17494869 GOA
enables Notch binding IDA
IDA: Inferred from direct assay
21464124 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22645275 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of Notch signaling pathway IDA
IDA: Inferred from direct assay
21464124 GOA
involved in protein phosphorylation IDA
IDA: Inferred from direct assay
17494869 GOA
involved in protein stabilization IDA
IDA: Inferred from direct assay
21464124 GOA
involved in regulation of clathrin-dependent endocytosis IDA
IDA: Inferred from direct assay
18657069 GOA
involved in regulation of clathrin-dependent endocytosis IMP
IMP: Inferred from mutant phenotype
17494869 GOA
involved in regulation of protein localization IDA
IDA: Inferred from direct assay
18657069 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AAK1 Protein Structure

Pkinase

Pkinase: Protein kinase domain (47 - 307)

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  • 961 a.a.
Protein Preferred Names Protein Names

AP2-associated protein kinase 1

adaptor-associated kinase 1

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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