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    Ap2m1 adaptor-related protein complex 2, mu 1 subunit [ Mus musculus (house mouse) ]

    Gene ID: 11773, updated on 12-May-2024

    Summary

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    Official Symbol
    Ap2m1provided by MGI
    Official Full Name
    adaptor-related protein complex 2, mu 1 subunitprovided by MGI
    Primary source
    MGI:MGI:1298405
    See related
    Ensembl:ENSMUSG00000022841 AllianceGenome:MGI:1298405
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    This gene encodes the mu subunit of the clathrin adaptor protein complex AP-2. It mediates sorting of cargo proteins harboring Y-X-X-Phi motifs into clathrin-coated vesicles. Alternate splicing of this gene results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2, 8 and 19. [provided by RefSeq, Dec 2014]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 166.3), whole brain E14.5 (RPKM 141.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ap2m1 in Genome Data Viewer
    Location:
    16 A3; 16 12.46 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (20354230..20363659)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (20535480..20544909)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_40327 Neighboring gene eukaryotic translation initiation factor 2B, subunit 5 epsilon Neighboring gene STARR-seq mESC enhancer starr_40328 Neighboring gene predicted gene, 16618 Neighboring gene dishevelled segment polarity protein 3 Neighboring gene STARR-positive B cell enhancer ABC_E1488 Neighboring gene mitochondrial ribosomal protein S18B pseudogene Neighboring gene ATP-binding cassette, sub-family F member 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Clathrin-independent endocytic retrieval of SV proteins mediated by the clathrin adaptor AP-2 at mammalian central synapses. López-Hernández T, et al. Elife, 2022 Jan 11. PMID 35014951, Free PMC Article
    2. Disruption of adaptor protein 2μ (AP-2μ) in cochlear hair cells impairs vesicle reloading of synaptic release sites and hearing. Jung S, et al. EMBO J, 2015 Nov 3. PMID 26446278, Free PMC Article
    3. Clathrin/AP-2 mediate synaptic vesicle reformation from endosome-like vacuoles but are not essential for membrane retrieval at central synapses. Kononenko NL, et al. Neuron, 2014 Jun 4. PMID 24908483
    4. Mechanisms of single-stranded phosphorothioate modified antisense oligonucleotide accumulation in hepatocytes. Koller E, et al. Nucleic Acids Res, 2011 Jun. PMID 21345934, Free PMC Article
    5. Clathrin adaptor AP-2 is essential for early embryonal development. Mitsunari T, et al. Mol Cell Biol, 2005 Nov. PMID 16227583, Free PMC Article

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Binding of AP-2 to otoferlin facilitates replenishment of release sites, for example, via speeding AZ clearance of exocytosed material, in addition to a role of AP-2 in synaptic vesicle reformation.
      Title: Disruption of adaptor protein 2μ (AP-2μ) in cochlear hair cells impairs vesicle reloading of synaptic release sites and hearing.
    2. Data shsow that mutation of residues at the DEP-mu2 contact or in the tyrosine motif reduce affinity of Dvl2 for mu2.
      Title: Structural analysis of the interaction between Dishevelled2 and clathrin AP-2 adaptor, a critical step in noncanonical Wnt signaling.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC102136

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables clathrin adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables disordered domain specific binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables low-density lipoprotein particle receptor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signal sequence binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in clathrin-dependent endocytosis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within intracellular protein transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of receptor internalization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of synaptic vesicle endocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in postsynaptic neurotransmitter receptor internalization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in postsynaptic neurotransmitter receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in postsynaptic neurotransmitter receptor internalization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in postsynaptic neurotransmitter receptor internalization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein-containing complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in receptor internalization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of vesicle size ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in synaptic vesicle endocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vesicle budding from membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within vesicle-mediated transport TAS
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of AP-2 adaptor complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of clathrin adaptor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in clathrin-coated pit ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    		  
    is_active_in extrinsic component of presynaptic endocytic zone membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in secretory granule TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in synapse EXP
    Inferred from Experiment
    more info
    		 PubMed 
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    AP-2 complex subunit mu
    Names
    AP-2 mu chain
    adapter-related protein complex 2 mu subunit
    adaptor protein complex AP-2 subunit mu
    adaptor protein complex AP-2, mu1
    adaptor-related protein complex 2 subunit mu
    adaptor-related protein complex AP-2, mu1
    clathrin assembly protein complex 2 medium chain
    clathrin assembly protein complex 2 mu medium chain
    clathrin coat assembly protein AP50
    clathrin coat-associated protein AP50
    clathrin-associated AP-2
    mu2-adaptin
    plasma membrane adaptor AP-2 50 kDa protein

    NCBI Reference Sequences (RefSeq)

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    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_001302970.1 → NP_001289899.1  AP-2 complex subunit mu isoform 2

      See identical proteins and their annotated locations for NP_001289899.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK141862, AK146517, AK172889
      Consensus CDS
      CCDS79436.1
      UniProtKB/TrEMBL
      Q3TH69, Q3TWV4, Q6A0C9
      Related
      ENSMUSP00000087477.7, ENSMUST00000090023.13
      Conserved Domains (2) summary
      cd09251
      Location:166 → 432
      AP-2_Mu2_Cterm; C-terminal domain of medium Mu2 subunit in ubiquitously expressed clathrin-associated adaptor protein (AP) complex AP-2
      cd14836
      Location:1 → 140
      AP2_Mu_N; AP-2 complex subunit mu N-terminal domain

    2. NM_009679.3 → NP_033809.1  AP-2 complex subunit mu isoform 1

      See identical proteins and their annotated locations for NP_033809.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK141862, AK146517
      Consensus CDS
      CCDS28048.1
      UniProtKB/Swiss-Prot
      P84091
      UniProtKB/TrEMBL
      Q3TH69, Q5FWI9
      Related
      ENSMUSP00000007216.9, ENSMUST00000007216.9
      Conserved Domains (2) summary
      cd09251
      Location:168 → 434
      AP-2_Mu2_Cterm; C-terminal domain of medium Mu2 subunit in ubiquitously expressed clathrin-associated adaptor protein (AP) complex AP-2
      cd14836
      Location:1 → 140
      AP2_Mu_N; AP-2 complex subunit mu N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      20354230..20363659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P84091.1 GenPept UniProtKB/Swiss-Prot:P84091

    Gene LinkOut

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