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

    Gene ID: 22848, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:19679
    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69457997..69643739, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69470304..69656050, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 15971 Neighboring gene NFU1 iron-sulfur cluster scaffold Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:69671824-69672380 Neighboring gene uncharacterized LOC124906020 Neighboring gene Sharpr-MPRA regulatory region 9634 Neighboring gene RNA, 7SL, cytoplasmic 604, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15972 Neighboring gene small nucleolar RNA, H/ACA box 36C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:69804675-69805175 Neighboring gene Sharpr-MPRA regulatory region 3088 Neighboring gene beta-1,3-N-acetylgalactosaminyltransferase 1 pseudogene 1 Neighboring gene ribosomal protein L36a pseudogene 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15975 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:69872055-69872657 Neighboring gene small nucleolar RNA U13 Neighboring gene annexin A4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15977 Neighboring gene SMARCA4 interacting SWI/SNF chromatin remodeling complex scaffold lncRNA

    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

    BioGRID CRISPR Screen Phenotypes (29 hits/1301 screens)

    EBI GWAS Catalog

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

    Interactions

    General gene information

    Clone Names

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

    Gene Ontology Provided by GOA

    Items 1 - 25 of 29
    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity  
    enables AMP-activated protein kinase activity  
    enables AP-2 adaptor complex binding  
    enables AP-2 adaptor complex binding PubMed 
    enables ATP binding  
    enables DNA-dependent protein kinase activity  
    enables Notch binding PubMed 
    enables Rho-dependent protein serine/threonine kinase activity  
    enables eukaryotic translation initiation factor 2alpha kinase activity  
    enables histone H2AS1 kinase activity  
    enables histone H2AS121 kinase activity  
    enables histone H2AT120 kinase activity  
    enables histone H2AXS139 kinase activity  
    enables histone H2BS14 kinase activity  
    enables histone H2BS36 kinase activity  
    enables histone H3S10 kinase activity  
    enables histone H3S28 kinase activity  
    enables histone H3S57 kinase activity  
    enables histone H3T11 kinase activity  
    enables histone H3T3 kinase activity  
    enables histone H3T45 kinase activity  
    enables histone H3T6 kinase activity  
    enables histone H4S1 kinase activity  
    enables protein binding PubMed 
    enables protein serine kinase activity  
    enables protein serine/threonine kinase activity  
    enables protein serine/threonine kinase activity  
    enables protein serine/threonine kinase activity  
    enables ribosomal protein S6 kinase activity  
    Items 1 - 25 of 29
    Component Evidence Code Pubs
    located_in cell leading edge  
    located_in clathrin-coated pit  
    located_in clathrin-coated vesicle  
    located_in cytosol  
    located_in cytosol  
    located_in intracellular membrane-bounded organelle  
    located_in plasma membrane  
    is_active_in presynapse  
    located_in terminal bouton  

    General protein information

    Preferred Names
    AP2-associated protein kinase 1
    Names
    adaptor-associated kinase 1
    alternative protein AAK1
    NP_001358504.1
    NP_001358506.1
    NP_001413674.1
    NP_001413675.1
    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_001371575.1 → NP_001358504.1  AP2-associated protein kinase 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC079121, AC092431, AC114772, AC136007
      UniProtKB/TrEMBL
      B7ZLC4
      Related
      ENSP00000385181.3, ENST00000406297.7
      Conserved Domains (2) summary
      PHA03378
      Location:296 → 461
      PHA03378; EBNA-3B; Provisional
      cd14037
      Location:42 → 316
      STKc_NAK_like; Catalytic domain of Numb-Associated Kinase (NAK)-like Serine/Threonine kinases
    2. NM_001371577.1 → NP_001358506.1  AP2-associated protein kinase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC079121, AC092431, AC114772
      UniProtKB/TrEMBL
      E9PG46
      Related
      ENSP00000386342.1, ENST00000409068.5
      Conserved Domains (2) summary
      PHA03378
      Location:296 → 461
      PHA03378; EBNA-3B; Provisional
      cd14037
      Location:42 → 316
      STKc_NAK_like; Catalytic domain of Numb-Associated Kinase (NAK)-like Serine/Threonine kinases
    3. NM_001426745.1 → NP_001413674.1  AP2-associated protein kinase 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC079121, AC092431, AC114772
      UniProtKB/TrEMBL
      A0A096LP25
    4. NM_001426746.1 → NP_001413675.1  AP2-associated protein kinase 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC079121, AC092431, AC114772
      UniProtKB/TrEMBL
      A0A096LP25
      Related
      ENSP00000485350.2, ENST00000606389.8
    5. NM_014911.5 → NP_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
      UniProtKB/Swiss-Prot
      Q2M2I8, Q4ZFZ3, Q53RX6, Q9UPV4
      UniProtKB/TrEMBL
      B7ZLC4
      Related
      ENSP00000386456.3, ENST00000409085.9
      Conserved Domains (2) summary
      PHA03378
      Location:296 → 461
      PHA03378; EBNA-3B; Provisional
      cd14037
      Location:42 → 316
      STKc_NAK_like; Catalytic domain of Numb-Associated Kinase (NAK)-like Serine/Threonine kinases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      69470304..69656050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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