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    AP2S1 adaptor-related protein complex 2, sigma 1 subunit [ Homo sapiens ]

    Gene ID: 1175, updated on 19-May-2012

    Summary

    Official Symbol
    AP2S1provided by HGNC
    Official Full Name
    adaptor-related protein complex 2, sigma 1 subunitprovided by HGNC
    Primary source
    HGNC:565
    See related
    Ensembl:ENSG00000042753; HPRD:03762; MIM:602242
    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
    AP17; CLAPS2; AP17-DELTA
    Summary
    One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing has been observed in this gene and results in two known transcripts. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    19q13.2-q13.3
    Sequence :
    Chromosome: 19; NC_000019.9 (47341423..47354203, complement)
    See AP2S1 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein M pseudogene Neighboring gene small ILF3/NF90-associated RNA E Neighboring gene Rho GTPase activating protein 35 Neighboring gene neuronal PAS domain protein 1

    Genomic regions, transcripts, and products

    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
    P53680 O95782 AP2A1    HPRD  PubMed  
    P53680 P63010 AP2B1    HPRD  PubMed  
    BioGRID:107589 BioGRID:106673 AP1G1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107589 BioGRID:109996 KHK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107589 BioGRID:121402 PAK7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107589 BioGRID:115946 POLQ    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107589 BioGRID:121377 RAB25    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107589 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    • Homologs of the AP2S1 gene: The AP2S1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, , S.pombe, , N.crassa, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • 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...
    • 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 transporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    axon guidance TAS
    Traceable Author Statement
    more info
     
    clathrin coat assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    protein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of defense response to virus by virus TAS
    Traceable Author Statement
    more info
     
    regulation of endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
     
    viral reproduction TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    AP-2 adaptor complex TAS
    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 sigma
    Names
    AP-2 complex subunit sigma
    sigma2-adaptin
    HA2 17 kDa subunit
    clathrin coat assembly protein AP17
    clathrin coat-associated protein AP17
    clathrin assembly protein 2 small chain
    adaptor protein complex AP-2 subunit sigma
    plasma membrane adaptor AP-2 17 kDa protein
    adapter-related protein complex 2 sigma subunit
    clathrin-associated/assembly/adaptor protein, small 2 (17kD)

    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_004069.3NP_004060.2  AP-2 complex subunit sigma isoform AP17

      Status: REVIEWED

      Description
      Transcript Variant: This variant (AP17) encodes the longer isoform (AP17).
      Source sequence(s)
      BC006337, BF970609, H46780
      Consensus CDS
      CCDS33062.1
      UniProtKB/Swiss-Prot
      P53680
      Related
      ENSP00000263270, ENST00000263270
      Conserved Domains (1) summary
      cl02092
      Location:1142
      Blast Score: 548
      Clat_adaptor_s; Clathrin adaptor complex small chain
    2. NM_021575.2NP_067586.1  AP-2 complex subunit sigma isoform AP17delta

      Status: REVIEWED

      Description
      Transcript Variant: This variant (AP17delta) lacks an exon in the coding region, compared to variant AP17, resulting in a shorter protein (isoform AP17delta).
      Source sequence(s)
      AJ010149, BF970609, BQ684675, BU564736, H46780
      Consensus CDS
      CCDS12693.1
      UniProtKB/Swiss-Prot
      P53680
      Related
      ENSP00000263271, ENST00000352203
      Conserved Domains (1) summary
      cl02092
      Location:1104
      Blast Score: 343
      Clat_adaptor_s; Clathrin adaptor complex small chain

    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
      47341423..47354203, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      43766567..43779262, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC008622.6 (123219..134881) None
    genomic AC098794.2 (1149..2266) None
    genomic CH471126.1 EAW57448.1
      EAW57449.1
    mRNA AJ010148.1 CAA09018.1
    mRNA AJ010149.1 CAA09019.1
    mRNA AK312003.1 BAG34941.1
    mRNA BC006337.2 AAH06337.1
    mRNA BF970609.1 None
    mRNA BQ684675.1 None
    mRNA BU564736.1 None
    mRNA H46780.1 None
    mRNA X97074.1 CAA65782.1
    other-genetic JF432568.1 ADZ15785.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P53680.2 GenPept UniProtKB/Swiss-Prot:P53680

      Supplemental Content

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