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    AP2A1 adaptor-related protein complex 2, alpha 1 subunit [ Homo sapiens ]

    Gene ID: 160, updated on 19-May-2012

    Summary

    Official Symbol
    AP2A1provided by HGNC
    Official Full Name
    adaptor-related protein complex 2, alpha 1 subunitprovided by HGNC
    Primary source
    HGNC:561
    See related
    Ensembl:ENSG00000196961; HPRD:03016; MIM:601026
    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]

    Genomic context

    Location :
    19q13.33
    Sequence :
    Chromosome: 19; NC_000019.9 (50270180..50310369)
    See AP2A1 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein S9 pseudogene 4 Neighboring gene testis-specific serine kinase substrate Neighboring gene fuzzy homolog (Drosophila) Neighboring gene mediator complex subunit 25 Neighboring gene uncharacterized LOC100506033 Neighboring gene prostate tumor overexpressed 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 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
    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

    Go to the HIV-1, Human Protein Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O95782 P53680 AP2S1    HPRD  PubMed  
    O95782 O00499 BIN1    HPRD  PubMed  
    O95782 Q14677 CLINT1    HPRD  PubMed  
    O95782 P35659 DEK    HPRD  PubMed  
    O95782 P50570 DNM2    HPRD  PubMed  
    O95782 Q9Y6I3 EPN1    HPRD  PubMed  
    O95782 P42566 EPS15    HPRD  PubMed  
    O95782 P10912 GHR    HPRD  PubMed  
    O95782 O00291 HIP1    HPRD  PubMed  
    O95782 Q9UK23 NAGPA    HPRD  PubMed  
    O95782 P49757 NUMB    HPRD  PubMed  
    O95782 Q13492 PICALM    HPRD  PubMed  
    O95782 Q7L804 RAB11FIP2    HPRD  PubMed  
    O95782 Q92963 RIT1    HPRD  PubMed  
    O95782 P04278 SHBG    HPRD  PubMed  
    O95782 P29353 SHC1    HPRD  PubMed  
    O95782 O15198 SMAD9    HPRD  PubMed  
    O95782 O95721 SNAP29    HPRD  PubMed  
    O95782 Q9BQG1 SYT3    HPRD  PubMed  
    O95782 O43581 SYT7    HPRD  PubMed  
    O95782 Q96GM8 TOE1    HPRD  PubMed  
    BioGRID:106669 BioGRID:107371 CD22    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106669 BioGRID:115038 CLINT1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106669 BioGRID:205180 Csnk1e    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106669 BioGRID:108142 DPYSL2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106669 BioGRID:116138 EHD1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106669 BioGRID:108374 EPS15    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106669 BioGRID:231562 Edc4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106669 BioGRID:110094 L1CAM    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106669 BioGRID:119351 NAGPA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106669 BioGRID:114202 NUMB    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106669 BioGRID:111317 PIN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106669 BioGRID:116514 RAB11FIP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106669 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Arf1 pathway, organism-specific biosystem (from Pathway Interaction Database)
      Arf1 pathway, organism-specific biosystem
      Arf1 pathway
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • EGFR downregulation, organism-specific biosystem (from REACTOME)
      EGFR downregulation, organism-specific biosystemRegulation of receptor tyrosine kinase (RTK) activity is implicated in the control of almost all cellular functions. One of the best understood RTKs is epidermal growth factor receptor (EGFR). Growth...
    • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
    • Endocrine and other factor-regulated calcium reabsorption, organism-specific biosystem (from KEGG)
      Endocrine and other factor-regulated calcium reabsorption, organism-specific biosystemCalcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis...
    • Endocrine and other factor-regulated calcium reabsorption, conserved biosystem (from KEGG)
      Endocrine and other factor-regulated calcium reabsorption, conserved biosystemCalcium (Ca2+) is essential for numerous physiological functions including intracellular signalling processes, neuronal excitability, muscle contraction and bone formation. Therefore, its homeostasis...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity, organism-specific biosystem (from REACTOME)
      Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity, organism-specific biosystemExcitatory synaptic transmission in the brain is carried out by glutamate receptors through the activation of both ionotropic and metabotropic receptors. Ionotropic glutamate receptors are of three ...
    • HIV Infection, organism-specific biosystem (from REACTOME)
      HIV Infection, organism-specific biosystemThe global pandemic of Human Immunodeficiency Virus (HIV) infection has resulted in tens of millions of people infected by the virus and millions more affected. UNAIDS estimates around 40 million ...
    • Host Interactions of HIV factors, organism-specific biosystem (from REACTOME)
      Host Interactions of HIV factors, organism-specific biosystemLike all viruses, HIV-1 must co-opt the host cell macromolecular transport and processing machinery. HIV-1 Vpr and Rev proteins play key roles in this co-optation. Efficient HIV-1 replication likewis...
    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • L1CAM interactions, organism-specific biosystem (from REACTOME)
      L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
    • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
      NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
    • Nef Mediated CD4 Down-regulation, organism-specific biosystem (from REACTOME)
      Nef Mediated CD4 Down-regulation, organism-specific biosystemThe presence of Nef accelerates endocytosis and lysosomal degradation of the transmembrane glycoprotein CD4. CD4 has its own internalization motif, though this motif is normally concealed by CD4 inte...
    • Nef Mediated CD8 Down-regulation, organism-specific biosystem (from REACTOME)
      Nef Mediated CD8 Down-regulation, organism-specific biosystemHuman immunodeficiency virus (HIV) Nef is a membrane-associated protein decreasing surface expression of CD4, CD28, and major histocompatibility complex class I on infected cells. Nef also strongly d...
    • Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters, organism-specific biosystem (from REACTOME)
      Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters, organism-specific biosystemThe maximal virulence of HIV-1 requires Nef, a virally encoded peripheral membrane protein. Nef binds to the adaptor protein (AP) complexes of coated vesicles, inducing an expansion of the endosomal ...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
      Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
    • Recycling pathway of L1, organism-specific biosystem (from REACTOME)
      Recycling pathway of L1, organism-specific biosystemL1 functions in many aspects of neuronal development including axon outgrowth and neuronal migration. These functions require coordination between L1 and the actin cytoskeleton. F-actin continuously ...
    • Retrograde neurotrophin signalling, organism-specific biosystem (from REACTOME)
      Retrograde neurotrophin signalling, organism-specific biosystemNeurotrophin-TRK complexes can be internalized and enter signalling vesicles, which travel retrogradely over long distances from distal nerve terminals to neuronal cell bodies. Such retrograde signal...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signal transduction by L1, organism-specific biosystem (from REACTOME)
      Signal transduction by L1, organism-specific biosystemBesides adhesive roles in cell cell interaction, L1 functions as a signal transducing receptor providing neurons with cues from their environment for axonal growth and guidance. L1 associates with be...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by EGFR in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by EGFR in Cancer, organism-specific biosystemThe pathway "Signaling by EGFR in Cancer" shows "Signaling by constitutively active EGFR" in parallel with "Signaling by EGFR". This allows users to compare signaling by constitutively active EGFR ca...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
      Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Synaptic vesicle cycle, conserved biosystem (from KEGG)
      Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • The role of Nef in HIV-1 replication and disease pathogenesis, organism-specific biosystem (from REACTOME)
      The role of Nef in HIV-1 replication and disease pathogenesis, organism-specific biosystemThe HIV-1 Nef protein is a 27-kDa myristoylated protein that is abundantly produced during the early phase of viral replication cycle. It is highly conserved in all primate lentiviruses, suggesting t...
    • Trafficking of AMPA receptors, organism-specific biosystem (from REACTOME)
      Trafficking of AMPA receptors, organism-specific biosystemRepetitive presynaptic activity causes long lasting changes in the postsynaptic transmission by changing the type and the number of AMPA receptors. These changes are brought about by trafficking mec...
    • Trafficking of GluR2-containing AMPA receptors, organism-specific biosystem (from REACTOME)
      Trafficking of GluR2-containing AMPA receptors, organism-specific biosystemTrafficking of GluR2-containing receptors is governed by protein protein interactions that are regulated by phosphorylation events. GluR2 binds NSF and AP2 in the proximal C terminal region and binds...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein C-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Golgi to endosome transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    axon guidance TAS
    Traceable Author Statement
    more info
     
    endocytosis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    intracellular protein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    nerve growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    regulation of defense response to virus by virus TAS
    Traceable Author Statement
    more info
     
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    viral reproduction TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    AP-2 adaptor complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin coat of trans-Golgi network vesicle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    membrane coat IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

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

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform of this protein.
      Source sequence(s)
      AF289221
      Consensus CDS
      CCDS46148.1
      UniProtKB/Swiss-Prot
      O95782
      Related
      ENSP00000351926, ENST00000359032
      Conserved Domains (3) summary
      pfam02296
      Location:864972
      Blast Score: 477
      Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
      pfam01602
      Location:31591
      Blast Score: 1360
      Adaptin_N; Adaptin N terminal region
      cl03759
      Location:755858
      Blast Score: 183
      Alpha_adaptinC2; Adaptin C-terminal domain
    2. NM_130787.2NP_570603.2  AP-2 complex subunit alpha-1 isoform 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)
      AF289221
      Consensus CDS
      CCDS46149.1
      UniProtKB/Swiss-Prot
      O95782
      Related
      ENSP00000346246, ENST00000354293
      Conserved Domains (3) summary
      pfam02296
      Location:842950
      Blast Score: 477
      Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
      pfam01602
      Location:31591
      Blast Score: 1360
      Adaptin_N; Adaptin N terminal region
      cl03759
      Location:733836
      Blast Score: 183
      Alpha_adaptinC2; Adaptin C-terminal domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      50270180..50310369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      46646519..46686682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC006942.1 AAD15564.1
    genomic AC011495.8 (192731..209843) None
    genomic AC098783.2 (3565..5210) None
    genomic AF289221.1 AAL11039.1
      AAL11040.1
    genomic CH471177.1 EAW52535.1
      EAW52536.1
      EAW52537.1
    mRNA AK094317.1 BAC04329.1
    mRNA AK124343.1 None
    mRNA AK302005.1 BAG63408.1
    mRNA AL136925.1 CAB66859.1
    mRNA BC014214.2 AAH14214.1
    other-genetic DQ892253.2 ABM83179.1
    other-genetic DQ895454.2 ABM86380.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95782.3 GenPept UniProtKB/Swiss-Prot:O95782
    Q8N9K4 GenPept UniProtKB/TrEMBL:Q8N9K4

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