Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AP2A1 Gene

Aliases for AP2A1 Gene

  • Adaptor Related Protein Complex 2 Subunit Alpha 1 2 2 3
  • Adaptor Related Protein Complex 2 Alpha 1 Subunit 2 3 5
  • Clathrin Assembly Protein Complex 2 Alpha-A Large Chain 3 4
  • Plasma Membrane Adaptor HA2/AP2 Adaptin Alpha A Subunit 3 4
  • Adaptor Protein Complex AP-2 Subunit Alpha-1 3 4
  • 100 KDa Coated Vesicle Protein A 3 4
  • Alpha-Adaptin A 3 4
  • Alpha1-Adaptin 3 4
  • CLAPA1 3 4
  • ADTAA 3 4
  • Clathrin-Associated/Assembly/Adaptor Protein, Large, Alpha 1 3
  • Adapter-Related Protein Complex 2 Alpha-1 Subunit 3
  • Adapter-Related Protein Complex 2 Subunit Alpha-1 3
  • Adaptor-Related Protein Complex 2 Subunit Alpha-1 4
  • AP-2 Complex Subunit Alpha-1 3
  • Adaptin, Alpha A 3
  • AP2-ALPHA 3

External Ids for AP2A1 Gene

Previous HGNC Symbols for AP2A1 Gene

  • CLAPA1
  • ADTAA

Previous GeneCards Identifiers for AP2A1 Gene

  • GC19P050928
  • GC19P050638
  • GC19P054946
  • GC19P054961
  • GC19P050270
  • GC19P046646

Summaries for AP2A1 Gene

Entrez Gene Summary for AP2A1 Gene

  • 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]

GeneCards Summary for AP2A1 Gene

AP2A1 (Adaptor Related Protein Complex 2 Subunit Alpha 1) is a Protein Coding gene. Among its related pathways are Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity and EGF/EGFR Signaling Pathway. Gene Ontology (GO) annotations related to this gene include binding and protein C-terminus binding. An important paralog of this gene is AP2A2.

UniProtKB/Swiss-Prot for AP2A1 Gene

  • Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity).

Gene Wiki entry for AP2A1 Gene

Additional gene information for AP2A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AP2A1 Gene

Genomics for AP2A1 Gene

GeneHancer (GH) Regulatory Elements for AP2A1 Gene

Promoters and enhancers for AP2A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J049764 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 659.4 -0.2 -160 3.9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A YY1 POLR2B AP2A1 NUP62 POLD1 IRF3 SNORD35A SNORD35B ALDH16A1 RPS11 RPL13A PIH1D1
GH19J049816 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.8 +51.8 51822 5 HDGF PKNOX1 ARNT ARID4B NEUROD1 SIN3A DMAP1 YBX1 ZBTB7B YY1 FUZ MED25 PRR12 PTOV1-AS2 PNKP PTOV1 SNRNP70 PIH1D1 POLD1 NUP62
GH19J049812 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 +46.7 46653 2.8 FOXA2 PKNOX1 CLOCK SIN3A ZNF2 YY1 ZNF766 E2F8 ZNF207 ZNF143 FUZ PRMT1 PTOV1 ADM5 CPT1C TSKS AP2A1 PTOV1-AS2 PTOV1-AS1 PTH2
GH19J049804 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 10 +40.8 40812 5.5 PKNOX1 ATF1 SIN3A ZNF48 ETS1 ZNF121 GLIS2 ZNF143 ATF7 RUNX3 LOC105372435 PIR61442 PRR12 RPS11 SNORD35A RPL13A PIH1D1 SNORD35B FUZ ALDH16A1
GH19J049801 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.6 +35.3 35337 1.9 HDGF PKNOX1 NFIB FEZF1 GLIS2 ZNF366 FOS EGR2 SP3 NFYA LOC105372435 TRPM4 AP2A1 AKT1S1 PIR61442 MIR6799
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AP2A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AP2A1 gene promoter:
  • Meis-1b
  • Meis-1
  • HOXA9B
  • HOXA9
  • c-Ets-1
  • Olf-1
  • Egr-1
  • Pax-4a
  • Pax-5
  • ARP-1

Genomic Locations for AP2A1 Gene

Genomic Locations for AP2A1 Gene
chr19:49,766,923-49,807,113
(GRCh38/hg38)
Size:
40,191 bases
Orientation:
Plus strand
chr19:50,270,180-50,310,370
(GRCh37/hg19)
Size:
40,191 bases
Orientation:
Plus strand

Genomic View for AP2A1 Gene

Genes around AP2A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AP2A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AP2A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP2A1 Gene

Proteins for AP2A1 Gene

  • Protein details for AP2A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95782-AP2A1_HUMAN
    Recommended name:
    AP-2 complex subunit alpha-1
    Protein Accession:
    O95782
    Secondary Accessions:
    • Q96CI7
    • Q96PP6
    • Q96PP7
    • Q9H070

    Protein attributes for AP2A1 Gene

    Size:
    977 amino acids
    Molecular mass:
    107546 Da
    Quaternary structure:
    • Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1). Interacts with SGIP1 (By similarity). Interacts with HIP1 and RAB11FIP2 (PubMed:12364336, PubMed:11532990). Interacts with SLC12A5 (By similarity). Interacts with clathrin (By similarity). Interacts with RFTN1 (PubMed:27022195).
    SequenceCaution:
    • Sequence=AAD15564.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for AP2A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AP2A1 Gene

Post-translational modifications for AP2A1 Gene

  • Ubiquitination at posLast=891891, Lys880, and posLast=165165
  • Modification sites at PhosphoSitePlus

Other Protein References for AP2A1 Gene

No data available for DME Specific Peptides for AP2A1 Gene

Domains & Families for AP2A1 Gene

Gene Families for AP2A1 Gene

Suggested Antigen Peptide Sequences for AP2A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95782

UniProtKB/Swiss-Prot:

AP2A1_HUMAN :
  • Belongs to the adaptor complexes large subunit family.
Family:
  • Belongs to the adaptor complexes large subunit family.
genes like me logo Genes that share domains with AP2A1: view

Function for AP2A1 Gene

Molecular function for AP2A1 Gene

UniProtKB/Swiss-Prot Function:
Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity).

Gene Ontology (GO) - Molecular Function for AP2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11517213
GO:0008022 protein C-terminus binding IEA --
GO:0019901 protein kinase binding IEA,ISS --
GO:0035615 contributes_to clathrin adaptor activity TAS 12121421
GO:0050750 low-density lipoprotein particle receptor binding IPI 26005850
genes like me logo Genes that share ontologies with AP2A1: view
genes like me logo Genes that share phenotypes with AP2A1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AP2A1 Gene

Localization for AP2A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AP2A1 Gene

Cell membrane. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AP2A1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
plasma membrane 4
lysosome 4
endosome 4
nucleus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AP2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005905 clathrin-coated pit IEA --
GO:0016020 membrane HDA 19946888
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with AP2A1: view

Pathways & Interactions for AP2A1 Gene

genes like me logo Genes that share pathways with AP2A1: view

Gene Ontology (GO) - Biological Process for AP2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport NAS 12036598
GO:0006895 Golgi to endosome transport NAS 12036598
GO:0006897 endocytosis NAS 12036598
GO:0007018 microtubule-based movement TAS --
GO:0010976 positive regulation of neuron projection development IEA --
genes like me logo Genes that share ontologies with AP2A1: view

No data available for SIGNOR curated interactions for AP2A1 Gene

Drugs & Compounds for AP2A1 Gene

No Compound Related Data Available

Transcripts for AP2A1 Gene

Unigene Clusters for AP2A1 Gene

Adaptor-related protein complex 2, alpha 1 subunit:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AP2A1 Gene

No ASD Table

Relevant External Links for AP2A1 Gene

GeneLoc Exon Structure for
AP2A1
ECgene alternative splicing isoforms for
AP2A1

Expression for AP2A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AP2A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AP2A1 Gene

This gene is overexpressed in Frontal cortex (10.1) and Brain (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AP2A1 Gene



Protein tissue co-expression partners for AP2A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AP2A1 Gene:

AP2A1

SOURCE GeneReport for Unigene cluster for AP2A1 Gene:

Hs.467125

mRNA Expression by UniProt/SwissProt for AP2A1 Gene:

O95782-AP2A1_HUMAN
Tissue specificity: Isoform A expressed in forebrain, skeletal muscle, spinal cord, cerebellum, salivary gland, heart and colon. Isoform B is widely expressed in tissues and also in breast cancer and in prostate carcinoma cells.

Evidence on tissue expression from TISSUES for AP2A1 Gene

  • Liver(4.4)
  • Muscle(4.3)
  • Nervous system(3.1)
  • Eye(2.4)
  • Adrenal gland(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with AP2A1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AP2A1 Gene

Orthologs for AP2A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AP2A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AP2A1 34 33
  • 95.58 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP2A1 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AP2A1 34 33
  • 92.98 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AP2A1 34 33
  • 92.74 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP2A1 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap2a1 16 34 33
  • 89.76 (n)
rat
(Rattus norvegicus)
Mammalia Ap2a1 33
  • 88.64 (n)
lizard
(Anolis carolinensis)
Reptilia AP2A1 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap2a1 33
  • 76.82 (n)
zebrafish
(Danio rerio)
Actinopterygii ap2a1 34 33
  • 75.89 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta alpha-Adaptin 34 35
  • 66 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apa-2 34
  • 64 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL3 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9573 34
  • 65 (a)
OneToMany
Cin.3545 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3545 33
Species where no ortholog for AP2A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AP2A1 Gene

ENSEMBL:
Gene Tree for AP2A1 (if available)
TreeFam:
Gene Tree for AP2A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AP2A1: view image

Paralogs for AP2A1 Gene

Paralogs for AP2A1 Gene

(1) SIMAP similar genes for AP2A1 Gene using alignment to 2 proteins:

  • AP2A1_HUMAN
  • M0R2D9_HUMAN
genes like me logo Genes that share paralogs with AP2A1: view

Variants for AP2A1 Gene

Sequence variations from dbSNP and Humsavar for AP2A1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs137955120 risk-factor, Neural tube defects, susceptibility to 49,807,197(+) C/T downstream_transcript_variant
rs139365610 risk-factor, Neural tube defects, susceptibility to 49,807,348(+) C/A/T downstream_transcript_variant
rs115945199 benign, not provided 49,807,170(+) G/T downstream_transcript_variant
rs1000002843 -- 49,780,492(+) G/A/C 5_prime_UTR_variant, intron_variant
rs1000084830 -- 49,792,606(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AP2A1 Gene

Variant ID Type Subtype PubMed ID
dgv53n68 CNV loss 17160897
esv3427277 CNV duplication 20981092
nsv1140251 OTHER inversion 24896259
nsv1160655 CNV deletion 26073780
nsv470150 CNV gain 18288195
nsv518114 CNV loss 19592680
nsv524546 CNV loss 19592680
nsv953600 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for AP2A1 Gene

Residual Variation Intolerance Score: 16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.90; 35.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AP2A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AP2A1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AP2A1 Gene

Disorders for AP2A1 Gene

Additional Disease Information for AP2A1

No disorders were found for AP2A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AP2A1 Gene

Publications for AP2A1 Gene

  1. The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis. (PMID: 11532990) Waelter S … Wanker EE (Human molecular genetics 2001) 3 4 22 58
  2. Inhibitory function of adapter-related protein complex 2 alpha 1 subunit in the process of nuclear translocation of human immunodeficiency virus type 1 genome. (PMID: 18178234) Kitagawa Y … Ikuta K (Virology 2008) 3 22 58
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Cloning, physical mapping and structural characterization of the human alpha(A)-adaptin gene. (PMID: 12036598) Scorilas A … Diamandis EP (Gene 2002) 3 4 58

Products for AP2A1 Gene

Sources for AP2A1 Gene

Content
Loading form....