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

Gene ID: 11773, updated on 2-Nov-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 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. Cloning of the gene encoding the murine clathrin-associated adaptor medium chain mu 2: gene organization, alternative splicing and chromosomal assignment. Ohno H, et al. Gene, 1998 Apr 14. PMID 9573360
  2. Clathrin adaptor AP-2 is essential for early embryonal development. Mitsunari T, et al. Mol Cell Biol, 2005 Nov. PMID 16227583, Free PMC Article
  3. 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
  4. 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
  5. 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

See all (73) 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 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 IEA
Inferred from Electronic Annotation
more info
  
enables signal sequence binding ISO
Inferred from Sequence Orthology
more info
  
enables transmembrane transporter binding IEA
Inferred from Electronic Annotation
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 intracellular protein transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of protein localization to plasma membrane IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of protein localization to plasma membrane ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of receptor internalization IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of receptor internalization ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of synaptic vesicle endocytosis IEA
Inferred from Electronic Annotation
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 
involved_in protein-containing complex assembly 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 IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of vesicle size ISO
Inferred from Sequence Orthology
more info
  
involved_in synaptic vesicle endocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptic vesicle endocytosis ISO
Inferred from Sequence Orthology
more info
  
involved_in vesicle budding from membrane IEA
Inferred from Electronic Annotation
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 
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
  
located_in extrinsic component of presynaptic endocytic zone membrane IEA
Inferred from Electronic Annotation
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 mitochondrion HDA PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in postsynapse IEA
Inferred from Electronic Annotation
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 
located_in synaptic vesicle IEA
Inferred from Electronic Annotation
more info
  

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

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