Format

Send to:

Choose Destination

AP2A1 adaptor related protein complex 2 subunit alpha 1 [ Homo sapiens (human) ]

Gene ID: 160, updated on 5-Jul-2020

Summary

Official Symbol
AP2A1provided by HGNC
Official Full Name
adaptor related protein complex 2 subunit alpha 1provided by HGNC
Primary source
HGNC:HGNC:561
See related
Ensembl:ENSG00000196961 MIM:601026
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
ADTAA; CLAPA1; AP2-ALPHA
Summary
This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
Expression
Broad expression in testis (RPKM 42.9), brain (RPKM 24.7) and 25 other tissues See more
Orthologs

Genomic context

See AP2A1 in Genome Data Viewer
Location:
19q13.33
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (49767001..49807114)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50270180..50310369)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372434 Neighboring gene testis specific serine kinase substrate Neighboring gene RNA, U6 small nuclear 841, pseudogene Neighboring gene microRNA 6799 Neighboring gene uncharacterized LOC105372435 Neighboring gene fuzzy planar cell polarity protein Neighboring gene mediator complex subunit 25 Neighboring gene microRNA 6800

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of adaptor-related protein complex 2, alpha 1 subunit (AP2A1) by siRNAs significantly enhances HIV-1 replication in human acute monocytic leukemia cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env HIV-1 Env gp41 requires the conserved membrane-proximal AP2A1 binding site in the gp41 cytoplasmic tail to evade antibody-dependent cell-mediated cytotoxicity (ADCC) via membrane-proximal endocytosis PubMed
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 The cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes PubMed
Nef nef Mutation of Arg to Glu at position 134 in HIV-1 Nef abolishes its binding to the AP-2 alpha1-sigma2 hemicomplex PubMed
nef HIV-1 Nef (residues 54-203) binds with low micromolar affinity to the AP-2 alpha (residues 1-392)-sigma2 (residues 1-142) hemicomplex. The central loop (residues 149-179) and the core (residues 55-65) of Nef are involved in the binding PubMed
nef A diacidic motif DD174/175 in HIV-1 Nef is required for direct binding to AP-2 alpha and the binding is dependent on electrostatic interactions, thus leading to Nef-mediated CD4 downregulation PubMed
nef Interaction of HIV-1 Nef with AP-2 alpha-sigma dimer is required for Nef-mediated CD4 downregulation. The dileucine L164L165 and M168L170 motifs bind to the sigma unit, while the acidic motif E174 and D175 binds to the alpha unit PubMed
nef Knocking down AP-2 enhances Nef activity by causing increased delivery of HLA-A2 to a prelysosomal compartment PubMed
nef K295, K297, K298, and R340 basic residues on the AP-2 alpha subunit are required for its binding to HIV-1 Nef. The K297 and R340 residues are required for Nef-induced CD4 downregulation and the cooperative assembly of a Nef-CD4-AP-2 complex PubMed
Pr55(Gag) 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 Vpu interacts with clathrin adaptors AP1G1 and AP2A1 in tetherin-expressing cells and this interaction is regulated by serine phosphorylation of Vpu and Vpu binding to tetherin 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 
low-density lipoprotein particle receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Golgi to endosome transport NAS
Non-traceable Author Statement
more info
PubMed 
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
 
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 NAS
Non-traceable Author Statement
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
intracellular protein transport NAS
Non-traceable Author Statement
more info
PubMed 
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 hyaluronan biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of hyaluronan biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of defense response to virus by virus TAS
Traceable Author Statement
more info
 
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 NAS
Non-traceable Author Statement
more info
PubMed 
AP-2 adaptor complex TAS
Traceable Author Statement
more info
PubMed 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
clathrin coat of trans-Golgi network vesicle NAS
Non-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
 
cytosol TAS
Traceable Author Statement
more info
 
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
endolysosome membrane TAS
Traceable Author Statement
more info
 
filopodium tip IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
AP-2 complex subunit alpha-1
Names
100 kDa coated vesicle protein A
adapter-related protein complex 2 alpha-1 subunit
adapter-related protein complex 2 subunit alpha-1
adaptin, alpha A
adaptor protein complex AP-2 subunit alpha-1
adaptor related protein complex 2 alpha 1 subunit
alpha-adaptin A
alpha1-adaptin
clathrin assembly protein complex 2 alpha-A large chain
clathrin-associated/assembly/adaptor protein, large, alpha 1
plasma membrane adaptor HA2/AP2 adaptin alpha A subunit

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_014203.3NP_055018.2  AP-2 complex subunit alpha-1 isoform 1

    See identical proteins and their annotated locations for NP_055018.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform of this protein.
    Source sequence(s)
    AC006942, AC011495
    Consensus CDS
    CCDS46148.1
    UniProtKB/Swiss-Prot
    O95782
    Related
    ENSP00000351926.4, ENST00000359032.9
    Conserved Domains (4) summary
    sd00044
    Location:332355
    HEAT; HEAT repeat [structural motif]
    pfam01602
    Location:29591
    Adaptin_N; Adaptin N terminal region
    pfam02296
    Location:864972
    Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
    pfam02883
    Location:751858
    Alpha_adaptinC2; Adaptin C-terminal domain
  2. NM_130787.3NP_570603.2  AP-2 complex subunit alpha-1 isoform 2

    See identical proteins and their annotated locations for NP_570603.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a 66 nt internal exon but maintains the reading frame, as compared to variant 1. Isoform 2 lacks 22 internal aa as compared to isoform 1.
    Source sequence(s)
    AC006942, AC011495
    Consensus CDS
    CCDS46149.1
    UniProtKB/Swiss-Prot
    O95782
    Related
    ENSP00000346246.4, ENST00000354293.9
    Conserved Domains (4) summary
    sd00044
    Location:332355
    HEAT; HEAT repeat [structural motif]
    pfam01602
    Location:29591
    Adaptin_N; Adaptin N terminal region
    pfam02296
    Location:842950
    Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
    pfam02883
    Location:729836
    Alpha_adaptinC2; Adaptin C-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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    49767001..49807114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526556.2XP_011524858.1  AP-2 complex subunit alpha-1 isoform X1

    Conserved Domains (4) summary
    smart00809
    Location:772875
    Alpha_adaptinC2; Adaptin C-terminal domain
    pfam01602
    Location:46608
    Adaptin_N; Adaptin N terminal region
    pfam02296
    Location:881989
    Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
    sd00044
    Location:349372
    HEAT; HEAT repeat [structural motif]
  2. XM_011526557.3XP_011524859.1  AP-2 complex subunit alpha-1 isoform X2

    Conserved Domains (4) summary
    smart00809
    Location:750853
    Alpha_adaptinC2; Adaptin C-terminal domain
    pfam01602
    Location:46608
    Adaptin_N; Adaptin N terminal region
    pfam02296
    Location:859967
    Alpha_adaptin_C; Alpha adaptin AP2, C-terminal domain
    sd00044
    Location:349372
    HEAT; HEAT repeat [structural motif]
Support Center