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

Gene ID: 1175, updated on 9-Aug-2014
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; Vega:OTTHUMG00000183437
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; FBH3; HHC3; FBHOk; CLAPS2
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 results in multiple transcript variants. [provided by RefSeq, Jul 2014]
See AP2S1 in Epigenomics, MapViewer
Location:
19q13.2-q13.3
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (46838166..46850946, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47341423..47354203, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein M pseudogene 2 Neighboring gene small ILF3/NF90-associated RNA E Neighboring gene Rho GTPase activating protein 35 Neighboring gene neuronal PAS domain protein 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
Nef 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
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

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
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  • 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 ...
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  • EPH-Ephrin signaling, organism-specific biosystem (from REACTOME)
    EPH-Ephrin signaling, organism-specific biosystemDuring the development process cell migration and adhesion are the main forces involved in morphing the cells into critical anatomical structures. The ability of a cell to migrate to its correct dest...
  • EPH-ephrin mediated repulsion of cells, organism-specific biosystem (from REACTOME)
    EPH-ephrin mediated repulsion of cells, organism-specific biosystemDespite high-affinity multimeric interaction between EPHs and ephrins (EFNs), the cellular response to EPH-EFN engagement is usually repulsion between the two cells and signal termination. These repu...
  • 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...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • 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...
  • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
    MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
  • 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...
  • PCP/CE pathway, organism-specific biosystem (from REACTOME)
    PCP/CE pathway, organism-specific biosystemThe planar cell polarity (PCP) pathway controls the establishment of polarity within the plane of a sheet of cells. PCP was initially characterized in Drosophila, where it controls the arrangement o...
  • 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...
  • 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...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • 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 Pathway, organism-specific biosystem (from WikiPathways)
    Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
  • 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,...
  • WNT5A-dependent internalization of FZD2, FZD5 and ROR2, organism-specific biosystem (from REACTOME)
    WNT5A-dependent internalization of FZD2, FZD5 and ROR2, organism-specific biosystemInternalization of FZD2, FZD5 and ROR2 after WNT5A binding is thought to occur in a clathrin-dependent manner and is required for the activation of RAC signaling (Kurayoshi et al, 2007; Sato et al, 2...
  • WNT5A-dependent internalization of FZD4, organism-specific biosystem (from REACTOME)
    WNT5A-dependent internalization of FZD4, organism-specific biosystemWNT5A induces internalization of FZD4 in a manner that depends upon PKC-mediated phosphorylation of DVL2. Uptake of FZD4 appears to occur in a clathrin, AP-2 and ARBB2-dependent mannner (Chen et al,...
  • beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
    beta-catenin independent WNT signaling, organism-specific biosystemHumans and mice have 19 identified WNT proteins that were originally classified as either 'canonical' or 'non-canonical' depending upon whether they were able to transform the mouse mammary epithelia...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
clathrin coat assembly TAS
Traceable Author Statement
more info
PubMed 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
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
 
neurotrophin TRK receptor signaling pathway TAS
Traceable Author Statement
more info
 
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
 
viral process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
AP-2 adaptor complex TAS
Traceable Author Statement
more info
PubMed 
clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
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
adaptor protein complex AP-2 subunit sigma
plasma membrane adaptor AP-2 17 kDa protein
clathrin assembly protein 2 sigma small chain
clathrin-associated/assembly/adaptor protein, small 2 (17kD)

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.

Genomic

  1. NG_033136.1 

    Range
    4952..17789
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301076.1NP_001288005.1  AP-2 complex subunit sigma isoform 3

    See proteins identical to NP_001288005.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AI139089, BC006337, BQ221562, CA454481
    Conserved Domains (1) summary
    pfam01217
    Location:18158
    Blast Score: 542
    Clat_adaptor_s; Clathrin adaptor complex small chain
  2. NM_001301078.1NP_001288007.1  AP-2 complex subunit sigma isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon, initiates translation at an alternate start codon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 3. It encodes isoform 4, which is shorter and has a distinct N-terminus, compared to isoform 3.
    Source sequence(s)
    AI139089, BC006337, BG282225, CB108423, DB472500
    Conserved Domains (1) summary
    pfam01217
    Location:1156
    Blast Score: 517
    Clat_adaptor_s; Clathrin adaptor complex small chain
  3. NM_001301081.1NP_001288010.1  AP-2 complex subunit sigma isoform 5

    See proteins identical to NP_001288010.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' terminal exon and initiates translation at an alternate start codon, compared to variant 3. It encodes isoform 5, which has a shorter and distinct N-terminus, compared to isoform 3.
    Source sequence(s)
    AI139089, BC006337, BI561502
    Conserved Domains (1) summary
    pfam01217
    Location:4144
    Blast Score: 537
    Clat_adaptor_s; Clathrin adaptor complex small chain
  4. NM_004069.4NP_004060.2  AP-2 complex subunit sigma isoform AP17

    See proteins identical to NP_004060.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (AP17) contains an alternate 5' terminal exon and initiates translation at an alternate start codon, compared to variant 3. It encodes isoform AP17, which has a shorter and distinct N-terminus, compared to isoform 3.
    Source sequence(s)
    AI139089, BC006337, DB472500
    Consensus CDS
    CCDS33062.1
    UniProtKB/Swiss-Prot
    P53680
    Related
    ENSP00000263270, OTTHUMP00000271690, ENST00000263270, OTTHUMT00000466643
    Conserved Domains (1) summary
    pfam01217
    Location:1142
    Blast Score: 541
    Clat_adaptor_s; Clathrin adaptor complex small chain
  5. NM_021575.3NP_067586.1  AP-2 complex subunit sigma isoform AP17delta

    See proteins identical to NP_067586.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (AP17delta) contains an alternate 5' terminal exon, initiates translation at an alternate start codon and lacks an alternate in-frame exon in the coding region, compared to variant 3. It encodes isoform AP17delta, which is shorter and has a distinct N-terminus, compared to isoform 3. .
    Source sequence(s)
    AI139089, AJ713543, BC006337, DB472500
    Consensus CDS
    CCDS12693.1
    UniProtKB/Swiss-Prot
    P53680
    Conserved Domains (1) summary
    cl02092
    Location:1104
    Blast Score: 338
    Clat_adaptor_s; Clathrin adaptor complex small chain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    46838166..46850946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258500.1XP_005258557.1  

    UniProtKB/TrEMBL
    X6R390
    Conserved Domains (1) summary
    pfam01217
    Location:1156
    Blast Score: 517
    Clat_adaptor_s; Clathrin adaptor complex small chain
  2. XM_006723004.1XP_006723067.1  

    UniProtKB/TrEMBL
    M0R0N4
    Conserved Domains (1) summary
    pfam01217
    Location:4144
    Blast Score: 537
    Clat_adaptor_s; Clathrin adaptor complex small chain
  3. XM_005258499.2XP_005258556.1  

    UniProtKB/TrEMBL
    M0QYZ2
    Related
    ENSP00000470176, OTTHUMP00000271687
    Conserved Domains (1) summary
    pfam01217
    Location:18158
    Blast Score: 542
    Clat_adaptor_s; Clathrin adaptor complex small chain

Alternate HuRef

Genomic

  1. AC_000151.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    47343326..47356098
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)