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    AP2M1 adaptor related protein complex 2 mu 1 subunit [ Homo sapiens (human) ]

    Gene ID: 1173, updated on 12-Jun-2016
    Official Symbol
    AP2M1provided by HGNC
    Official Full Name
    adaptor related protein complex 2 mu 1 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:564
    See related
    Ensembl:ENSG00000161203 HPRD:03014; MIM:601024; Vega:OTTHUMG00000156822
    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
    mu2; AP50; CLAPM1
    Summary
    This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
    Orthologs
    Location:
    3q28
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (184174846..184184091)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183892634..183901879)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S3 pseudogene 3 Neighboring gene dishevelled segment polarity protein 3 Neighboring gene ATP binding cassette subfamily F member 3 Neighboring gene von Willebrand factor A domain containing 5B2 Neighboring gene microRNA 1224

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A mega-analysis of genome-wide association studies for major depressive disorder.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of adaptor-related protein complex 2, mu 1 subunit (AP2M1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed
    Knockdown of AP2M1 by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify adaptor-related protein complex 2 mu 1 subunit (AP2M1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    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 Two tyrosine-based endocytic signals (residues 704-710 and 760-766) in the cytosolic tail (gp41) of the HIV-1 envelope glycoprotein (Env) complex interact with members of the adaptor medium chain family, AP-1 mu1, AP-2 mu2 and AP-3 mu3A PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify adaptor-related protein complex 2 mu 1 subunit (AP2M1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Using RNA interference analyses, the downregulation of CD8beta by Nef requires an intact mu subunit of the AP-2 complex PubMed
    nef Tandem affinity purification and mass spectrometry analysis identify adaptor-related protein complex 2 mu 1 subunit (AP2M1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    nef HIV-1 Nef upregulates the expression of the invariant chain (Ii)/major histocompatibility complex class II (MHC-II) complex through the AP-2 mu2 pathway PubMed
    nef Nef-mediated CD4 downregulation is inhibited by RNA interference of AP-2 expression, indicating that Nef-mediated CD4 downregulation requires AP-2 PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify adaptor-related protein complex 2 mu 1 subunit (AP2M1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    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 HIV-1 Vpu directly interacts with the mu subunit of clathrin-associated protein complex AP-2 in cells PubMed
    vpu The plasma membrane clathrin adaptor protein complex AP-2 (mu2) is required for optimal downregulation of cell surface BST-2 by Vpu PubMed

    Go to the HIV-1, Human Interaction Database

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    • Neuronal System, organism-specific biosystem (from REACTOME)
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    • Signal Transduction, organism-specific biosystem (from REACTOME)
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    • WNT5A-dependent internalization of FZD2, FZD5 and ROR2, organism-specific biosystem (from REACTOME)
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    • WNT5A-dependent internalization of FZD4, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to clathrin adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    low-density lipoprotein particle receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal sequence binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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
     
    endolysosome membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    terminal bouton IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    AP-2 complex subunit mu
    Names
    AP-2 mu 2 chain
    HA2 50 kDA subunit
    adaptin-mu2
    adaptor protein complex AP-2 subunit mu
    adaptor related protein complex 2, mu 1 subunit
    adaptor-related protein complex 2 subunit mu
    adaptor-related protein complex 2, mu 1 subunit
    clathrin adaptor complex AP2, mu subunit
    clathrin assembly protein complex 2 medium chain
    clathrin assembly protein complex 2 mu medium chain
    clathrin coat adaptor protein AP50
    clathrin coat assembly protein AP50
    clathrin coat-associated protein AP50
    clathrin-associated/assembly/adaptor protein, medium 1
    plasma membrane adaptor AP-2 50 kDa protein
    plasma membrane adaptor AP-2 50kDA protein

    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_001025205.1NP_001020376.1  AP-2 complex subunit mu isoform b

      See identical proteins and their annotated locations for NP_001020376.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three alternate in-frame exons compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      BC004996, BC013796, BI461415
      Consensus CDS
      CCDS43178.1
      UniProtKB/Swiss-Prot
      Q96CW1
      Related
      ENSP00000371894, OTTHUMP00000210694, ENST00000382456, OTTHUMT00000346011
      Conserved Domains (1) summary
      cd09251
      Location:166432
      AP-2_Mu2_Cterm; C-terminal domain of medium Mu2 subunit in ubiquitously expressed clathrin-associated adaptor protein (AP) complex AP-2
    2. NM_001311198.1NP_001298127.1  AP-2 complex subunit mu isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AK297849, BC004996, DB261680
      UniProtKB/Swiss-Prot
      Q96CW1
      UniProtKB/TrEMBL
      B4DNB9, E9PFW3
      Related
      ENSP00000403362, OTTHUMP00000210695, ENST00000411763, OTTHUMT00000346012
      Conserved Domains (1) summary
      cd09251
      Location:193459
      AP-2_Mu2_Cterm; C-terminal domain of medium Mu2 subunit in ubiquitously expressed clathrin-associated adaptor protein (AP) complex AP-2
    3. NM_004068.3NP_004059.2  AP-2 complex subunit mu isoform a

      See identical proteins and their annotated locations for NP_004059.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks two alternate in-frame exons compared to variant 3. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      BC004996, BI461415
      Consensus CDS
      CCDS43177.1
      UniProtKB/Swiss-Prot
      Q96CW1
      Related
      ENSP00000292807, OTTHUMP00000210696, ENST00000292807, OTTHUMT00000346013
      Conserved Domains (1) summary
      cd09251
      Location:168434
      AP-2_Mu2_Cterm; C-terminal domain of medium Mu2 subunit in ubiquitously expressed clathrin-associated adaptor protein (AP) complex AP-2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      184174846..184184091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      183857039..183866284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)