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

Gene ID: 1173, updated on 5-Jul-2020

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
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

Genomic context

See AP2M1 in Genome Data Viewer
Location:
3q27.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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

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
not available

NHGRI GWAS Catalog

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
clathrin adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
Process Evidence Code Pubs
Wnt signaling pathway, planar cell polarity pathway TAS
Traceable Author Statement
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
cellular protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
clathrin-dependent endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin-dependent endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-dependent endocytosis TAS
Traceable Author Statement
more info
PubMed 
endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
low-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
 
low-density lipoprotein particle receptor catabolic process TAS
Traceable Author Statement
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
receptor internalization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of defense response to virus by virus TAS
Traceable Author Statement
more info
 
regulation of vesicle size IMP
Inferred from Mutant Phenotype
more info
PubMed 
vesicle budding from membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
AP-2 adaptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
AP-2 adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
AP-2 adaptor complex TAS
Traceable Author Statement
more info
PubMed 
clathrin-coated endocytic vesicle NAS
Non-traceable Author Statement
more info
PubMed 
clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
clathrin-coated pit IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 HDA PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
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)

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
    ENSP00000371894.3, 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_001311198.1NP_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
    Consensus CDS
    CCDS82880.1
    UniProtKB/Swiss-Prot
    Q96CW1
    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
    Q96CW1
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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