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

    Gene ID: 22848, updated on 12-Mar-2017
    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]
    Orthologs
    Location:
    2p13.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 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

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    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 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 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
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extrinsic component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    terminal bouton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    AP2-associated protein kinase 1
    Names
    adaptor-associated kinase 1
    NP_055726.3

    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, OTTHUMP00000202201, ENST00000409085, 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      69614737..69800612 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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