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    AP2A1 adaptor related protein complex 2 subunit alpha 1 [ Homo sapiens (human) ]

    Gene ID: 160, updated on 9-Dec-2024

    Summary

    Official Symbol
    AP2A1provided by HGNC
    Official Full Name
    adaptor related protein complex 2 subunit alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:561
    See related
    Ensembl:ENSG00000196961 MIM:601026; AllianceGenome:HGNC:561
    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
    Also known as
    ADTAA; CLAPA1; AP2-ALPHA
    Summary
    This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 42.9), brain (RPKM 24.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AP2A1 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49767001..49807114)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52767146..52807252)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50270258..50310371)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372434 Neighboring gene testis specific serine kinase substrate Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50263738-50263955 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50264724-50265316 Neighboring gene hESC enhancers GRCh37_chr19:50268923-50269900 and GRCh37_chr19:50269954-50270722 Neighboring gene RNA, U6 small nuclear 841, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50274662-50275586 Neighboring gene uncharacterized LOC124904742 Neighboring gene microRNA 6799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50303481-50303981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50305815-50306330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50306331-50306844 Neighboring gene uncharacterized LOC105372435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10936 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50316420-50317226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14958 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50321502-50321668 Neighboring gene fuzzy planar cell polarity protein Neighboring gene mediator complex subunit 25 Neighboring gene microRNA 6800

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of adaptor-related protein complex 2, alpha 1 subunit (AP2A1) by siRNAs significantly enhances HIV-1 replication in human acute monocytic leukemia cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env HIV-1 Env gp41 requires the conserved membrane-proximal AP2A1 binding site in the gp41 cytoplasmic tail to evade antibody-dependent cell-mediated cytotoxicity (ADCC) via membrane-proximal endocytosis PubMed
    env Two independent motifs, a membrane proximal conserved GYxxO motif (residues 711-715) and a C-terminal dileucine motif (residues 855-856), of the HIV-1 gp41 protein mediate endocytosis through interaction with the clathrin adaptor AP-2 PubMed
    env The cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes PubMed
    Nef nef Mutation of Arg to Glu at position 134 in HIV-1 Nef abolishes its binding to the AP-2 alpha1-sigma2 hemicomplex PubMed
    nef HIV-1 Nef (residues 54-203) binds with low micromolar affinity to the AP-2 alpha (residues 1-392)-sigma2 (residues 1-142) hemicomplex. The central loop (residues 149-179) and the core (residues 55-65) of Nef are involved in the binding PubMed
    nef A diacidic motif DD174/175 in HIV-1 Nef is required for direct binding to AP-2 alpha and the binding is dependent on electrostatic interactions, thus leading to Nef-mediated CD4 downregulation PubMed
    nef Interaction of HIV-1 Nef with AP-2 alpha-sigma dimer is required for Nef-mediated CD4 downregulation. The dileucine L164L165 and M168L170 motifs bind to the sigma unit, while the acidic motif E174 and D175 binds to the alpha unit PubMed
    nef Knocking down AP-2 enhances Nef activity by causing increased delivery of HLA-A2 to a prelysosomal compartment PubMed
    nef K295, K297, K298, and R340 basic residues on the AP-2 alpha subunit are required for its binding to HIV-1 Nef. The K297 and R340 residues are required for Nef-induced CD4 downregulation and the cooperative assembly of a Nef-CD4-AP-2 complex PubMed
    Pr55(Gag) gag HIV-1 Gag binds to AP-2, and this binding is dependent on tyrosine residue 132 and valine residue 135 at the matrix-capsid junction in the Gag polyprotein PubMed
    Tat tat HIV-1 Tat enters T cells by using clathrin/AP2-mediated endocytosis followed by low-pH-induced and Hsp90-assisted endosomal translocation, which leads to cell responses that are induced from the cytosol PubMed
    Vpu vpu Vpu interacts with clathrin adaptors AP1G1 and AP2A1 in tetherin-expressing cells and this interaction is regulated by serine phosphorylation of Vpu and Vpu binding to tetherin 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables clathrin adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to clathrin adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables low-density lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Golgi to endosome transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in clathrin-dependent endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in clathrin-dependent endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in clathrin-dependent endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in clathrin-dependent endocytosis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in clathrin-dependent endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in endocytosis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in intracellular protein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of hyaluronan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of hyaluronan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of receptor-mediated endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynaptic neurotransmitter receptor internalization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in synaptic vesicle endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of AP-2 adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of AP-2 adaptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of AP-2 adaptor complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of AP-2 adaptor complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of clathrin coat of trans-Golgi network vesicle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasmic side of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in endolysosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in filopodium tip IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic endocytic zone IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    AP-2 complex subunit alpha-1
    Names
    100 kDa coated vesicle protein A
    adapter-related protein complex 2 alpha-1 subunit
    adapter-related protein complex 2 subunit alpha-1
    adaptin, alpha A
    adaptor protein complex AP-2 subunit alpha-1
    adaptor related protein complex 2 alpha 1 subunit
    alpha-adaptin A
    alpha1-adaptin
    clathrin assembly protein complex 2 alpha-A large chain
    clathrin-associated/assembly/adaptor protein, large, alpha 1
    plasma membrane adaptor HA2/AP2 adaptin alpha A subunit

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_014203.3NP_055018.2  AP-2 complex subunit alpha-1 isoform 1

      See identical proteins and their annotated locations for NP_055018.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform of this protein.
      Source sequence(s)
      AC006942, AC011495
      Consensus CDS
      CCDS46148.1
      UniProtKB/Swiss-Prot
      O95782, Q96CI7, Q96PP6, Q96PP7, Q9H070
      Related
      ENSP00000351926.4, ENST00000359032.10
      Conserved Domains (4) summary
      sd00044
      Location:332355
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:29591
      Adaptin_N; Adaptin N terminal region
      pfam02296
      Location:864972
      Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
      pfam02883
      Location:751858
      Alpha_adaptinC2; Adaptin C-terminal domain
    2. NM_130787.3NP_570603.2  AP-2 complex subunit alpha-1 isoform 2

      See identical proteins and their annotated locations for NP_570603.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a 66 nt internal exon but maintains the reading frame, as compared to variant 1. Isoform 2 lacks 22 internal aa as compared to isoform 1.
      Source sequence(s)
      AC006942, AC011495
      Consensus CDS
      CCDS46149.1
      UniProtKB/Swiss-Prot
      O95782
      Related
      ENSP00000346246.4, ENST00000354293.10
      Conserved Domains (4) summary
      sd00044
      Location:332355
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:29591
      Adaptin_N; Adaptin N terminal region
      pfam02296
      Location:842950
      Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
      pfam02883
      Location:729836
      Alpha_adaptinC2; Adaptin C-terminal domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      49767001..49807114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526556.3XP_011524858.1  AP-2 complex subunit alpha-1 isoform X1

      Conserved Domains (4) summary
      smart00809
      Location:772875
      Alpha_adaptinC2; Adaptin C-terminal domain
      pfam01602
      Location:46608
      Adaptin_N; Adaptin N terminal region
      pfam02296
      Location:881989
      Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
      sd00044
      Location:349372
      HEAT; HEAT repeat [structural motif]
    2. XM_011526557.4XP_011524859.1  AP-2 complex subunit alpha-1 isoform X2

      Conserved Domains (4) summary
      smart00809
      Location:750853
      Alpha_adaptinC2; Adaptin C-terminal domain
      pfam01602
      Location:46608
      Adaptin_N; Adaptin N terminal region
      pfam02296
      Location:859967
      Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
      sd00044
      Location:349372
      HEAT; HEAT repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52767146..52807252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320019.1XP_054175994.1  AP-2 complex subunit alpha-1 isoform X1

    2. XM_054320020.1XP_054175995.1  AP-2 complex subunit alpha-1 isoform X2