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AAK1 AP2 associated kinase 1 [ Homo sapiens (human) ]

Gene ID: 22848, updated on 5-Sep-2021

Summary

Official Symbol
AAK1provided by HGNC
Official Full Name
AP2 associated kinase 1provided by HGNC
Primary source
HGNC:HGNC:19679
See related
Ensembl:ENSG00000115977 MIM:616405
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Expression
Ubiquitous expression in brain (RPKM 7.8), thyroid (RPKM 4.9) and 24 other tissues See more
Orthologs
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Genomic context

See AAK1 in Genome Data Viewer
Location:
2p13.3
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (69457997..69643739, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69685129..69870871, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene glutamine--fructose-6-phosphate transaminase 1 Neighboring gene NFU1 iron-sulfur cluster scaffold Neighboring gene uncharacterized protein FLJ45252 Neighboring gene Sharpr-MPRA regulatory region 9634 Neighboring gene RNA, 7SL, cytoplasmic 604, pseudogene Neighboring gene small nucleolar RNA, H/ACA box 36C Neighboring gene beta-1,3-N-acetylgalactosaminyltransferase 1 pseudogene 1 Neighboring gene ribosomal protein L36a pseudogene 16 Neighboring gene annexin A4 Neighboring gene MANTIS Neighboring gene germ cell-less 1, spermatogenesis associated Neighboring gene ribosomal protein L23a pseudogene 92

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.
GeneReviews: Not available
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
GeneReviews: Not available
Genomewide association study for onset age in Parkinson disease.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of AP2 associated kinase 1 (AAK1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Nef nef Genome-wide shRNA screening identifies AAK1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23712, FLJ25931, FLJ31060, FLJ42882, FLJ45252, KIAA1048, MGC138170, MGC164568, MGC164570, DKFZp686F03202, DKFZp686K16132

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables AP-2 adaptor complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables AP-2 adaptor complex binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables Notch binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in cell leading edge ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
located_in clathrin-coated vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extrinsic component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in terminal bouton ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
AP2-associated protein kinase 1
Names
adaptor-associated kinase 1
NP_001358504.1
NP_001358506.1
NP_055726.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001371575.1NP_001358504.1  AP2-associated protein kinase 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC079121, AC092431, AC114772, AC136007
    Related
    ENSP00000385181.3, ENST00000406297.7
    Conserved Domains (2) summary
    PHA03378
    Location:296461
    PHA03378; EBNA-3B; Provisional
    cd14037
    Location:42316
    STKc_NAK_like; Catalytic domain of Numb-Associated Kinase (NAK)-like Serine/Threonine kinases
  2. NM_001371577.1NP_001358506.1  AP2-associated protein kinase 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC079121, AC092431, AC114772
    Related
    ENSP00000386342.1, ENST00000409068.5
    Conserved Domains (2) summary
    PHA03378
    Location:296461
    PHA03378; EBNA-3B; Provisional
    cd14037
    Location:42316
    STKc_NAK_like; Catalytic domain of Numb-Associated Kinase (NAK)-like Serine/Threonine kinases
  3. NM_014911.5NP_055726.4  AP2-associated protein kinase 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC079121, AC114772, AC136007, AW451954, AW969393, BC111965, CA436375, DA121999, DB285703
    Consensus CDS
    CCDS1893.2
    Related
    ENSP00000386456.3, ENST00000409085.9
    Conserved Domains (2) summary
    PHA03378
    Location:296461
    PHA03378; EBNA-3B; Provisional
    cd14037
    Location:42316
    STKc_NAK_like; Catalytic domain of Numb-Associated Kinase (NAK)-like Serine/Threonine kinases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    69457997..69643739 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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