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

Gene ID: 22848, updated on 5-Aug-2018

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; Vega:OTTHUMG00000129648
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
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. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The 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. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 7.8), thyroid (RPKM 4.9) and 24 other tissues See more
Orthologs

Genomic context

See AAK1 in Genome Data Viewer
Location:
2p13.3
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (69457995..69643845, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69685127..69901566, 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 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 natural cytotoxicity triggering receptor 3 ligand 1-like Neighboring gene germ cell-less, spermatogenesis associated 1 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.
NHGRI GWA Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
NHGRI GWA Catalog
Genomewide association study for onset age in Parkinson disease.
NHGRI GWA Catalog

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 BioSystems

  • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

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
AP-2 adaptor complex binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
Notch binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
endocytosis IEA
Inferred from Electronic Annotation
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
positive regulation of Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
protein autophosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of clathrin-dependent endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of clathrin-dependent endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of protein localization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell leading edge ISS
Inferred from Sequence or Structural Similarity
more info
 
clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extrinsic component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_055726.3

NCBI Reference Sequences (RefSeq)

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_014911.3NP_055726.3  AP2-associated protein kinase 1

    Status: REVIEWED

    Source sequence(s)
    AC114772, AC136007, AW451954, AW969393, BC111965, CA436375, DA121999, DB285703
    Consensus CDS
    CCDS1893.2
    UniProtKB/Swiss-Prot
    Q2M2I8
    Related
    ENSP00000386456.3, OTTHUMP00000202201, ENST00000409085.8, OTTHUMT00000251847
    Conserved Domains (2) summary
    smart00220
    Location:47307
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14037
    Location:42316
    STKc_NAK_like; Catalytic domain of Numb-Associated Kinase (NAK)-like Serine/Threonine kinases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    69457995..69643845 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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