U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 1173, updated on 23-Nov-2023

    Summary

    Official Symbol
    AP2M1provided by HGNC
    Official Full Name
    adaptor related protein complex 2 subunit mu 1provided by HGNC
    Primary source
    HGNC:HGNC:564
    See related
    Ensembl:ENSG00000161203 MIM:601024; AllianceGenome:HGNC:564
    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; MRD60; 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]
    Expression
    Ubiquitous expression in brain (RPKM 196.0), adrenal (RPKM 156.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AP2M1 in Genome Data Viewer
    Location:
    3q27.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184174855..184184091)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (186983791..186993030)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183892643..183901879)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183873749-183874626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183874627-183875502 Neighboring gene ribosomal protein S3 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:183878685-183879185 Neighboring gene dishevelled segment polarity protein 3 Neighboring gene Sharpr-MPRA regulatory region 1463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14957 Neighboring gene Sharpr-MPRA regulatory region 464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183900972-183901486 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183902780-183903494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20904 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:183908066-183909265 Neighboring gene ATP binding cassette subfamily F member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14958 Neighboring gene von Willebrand factor A domain containing 5B2 Neighboring gene microRNA 1224

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual developmental disorder 60 with seizures
    MedGen: C5231497 OMIM: 618587 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    HIV-1 interactions

    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 HIV-1 Nef interacts weakly and directly with AP2M1 (AP-2mu) in 293T cells and this interaction is dependent on Nef membrane localization as shown by FACS-Forster resonance energy transfer (FRET)-based and site-directed mutagenesis experiments PubMed
    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

    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 disordered domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables low-density lipoprotein particle receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signal sequence binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in clathrin-dependent endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of receptor internalization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of synaptic vesicle endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynaptic neurotransmitter receptor internalization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of vesicle size IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synaptic vesicle endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in synaptic vesicle endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synaptic vesicle endocytosis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in vesicle budding from membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 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 clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic side of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 extracellular exosome HDA PubMed 
    located_in extrinsic component of presynaptic endocytic zone membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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
    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

    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_001025205.2NP_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/TrEMBL
      A0A087WY71
      Related
      ENSP00000371894.3, ENST00000382456.7
      Conserved Domains (2) 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
      cd14836
      Location:1140
      AP2_Mu_N; AP-2 complex subunit mu N-terminal domain
    2. NM_001311198.2NP_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
      Consensus CDS
      CCDS82880.1
      UniProtKB/TrEMBL
      B4DNB9, E9PFW3
      Related
      ENSP00000403362.2, ENST00000411763.6
      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_004068.4NP_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
      A6NE12, D3DNT1, P20172, P53679, Q96CW1
      UniProtKB/TrEMBL
      A0A087WY71
      Related
      ENSP00000292807.5, ENST00000292807.9
      Conserved Domains (2) 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
      cd14836
      Location:1140
      AP2_Mu_N; AP-2 complex subunit mu N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      184174855..184184091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      186983791..186993030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)