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Aliases for AP2A1 Gene

Aliases for AP2A1 Gene

  • Adaptor-Related Protein Complex 2, Alpha 1 Subunit 2 3
  • CLAPA1 3 4 6
  • ADTAA 3 4 6
  • Clathrin Assembly Protein Complex 2 Alpha-A Large Chain 3 4
  • Plasma Membrane Adaptor HA2/AP2 Adaptin Alpha A Subunit 3 4
  • Adaptor-Related Protein Complex 2 Subunit Alpha-1 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
  • 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
  • AP-2 Complex Subunit Alpha-1 3
  • Adaptin, Alpha A 3
  • AP2-ALPHA 3

External Ids for AP2A1 Gene

Previous Symbols for AP2A1 Gene

  • CLAPA1
  • ADTAA

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, Alpha 1 Subunit) is a Protein Coding gene. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include protein C-terminus binding and protein transporter activity. 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

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

Genomics for AP2A1 Gene

Genomic Location for AP2A1 Gene

Start:
49,766,923 bp from pter
End:
49,807,113 bp from pter
Size:
40,191 bases
Orientation:
Plus strand

Genomic View for AP2A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AP2A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AP2A1 Gene

Regulatory Elements 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. Interacts with SLC12A5. Interacts with clathrin.
    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

Proteomics data for AP2A1 Gene at MOPED

Post-translational modifications for AP2A1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys117, Lys165, Lys880, and Lys891

Other Protein References for AP2A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AP2A1 Gene

Domains for AP2A1 Gene

UniProtKB/Swiss-Prot:

AP2A1_HUMAN
Family:
  • Belongs to the adaptor complexes large subunit family.:
    • O95782
genes like me logo Genes that share domains with AP2A1: view

No data available for Gene Families for AP2A1 Gene

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:0005488 binding --
GO:0005515 protein binding IPI 19116314
GO:0008022 protein C-terminus binding IEA --
GO:0008565 protein transporter activity IEA --
GO:0019901 protein kinase binding ISS --
genes like me logo Genes that share ontologies with AP2A1: view

Phenotypes for AP2A1 Gene

MGI mutant phenotypes for AP2A1:
inferred from 2 alleles
GenomeRNAi human phenotypes for AP2A1:
genes like me logo Genes that share phenotypes with AP2A1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for AP2A1 Gene COMPARTMENTS Subcellular localization image for AP2A1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
cytosol 4
nucleus 2
cytoskeleton 1

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:0016020 membrane IDA 19946888
GO:0016323 basolateral plasma membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with AP2A1: view

Pathways 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:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with AP2A1: view

Transcripts for AP2A1 Gene

Unigene Clusters for AP2A1 Gene

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

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 for AP2A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AP2A1 Gene

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

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 36
  • 95.58 (n)
  • 94.29 (a)
AP2A1 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AP2A1 36
  • 92.98 (n)
  • 98.74 (a)
AP2A1 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP2A1 36
  • 92.74 (n)
  • 99.27 (a)
AP2A1 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap2a1 36
  • 89.76 (n)
  • 97.9 (a)
Ap2a1 16
Ap2a1 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AP2A1 37
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP2A1 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap2a1 36
  • 88.64 (n)
  • 97.69 (a)
lizard
(Anolis carolinensis)
Reptilia AP2A1 37
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap2a1 36
  • 76.82 (n)
  • 88.45 (a)
zebrafish
(Danio rerio)
Actinopterygii ap2a1 36
  • 75.89 (n)
  • 86.01 (a)
ap2a1 37
  • 85 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta alpha-Adaptin 37
  • 66 (a)
OneToMany
alpha-Adaptin 38
  • 78 (a)
worm
(Caenorhabditis elegans)
Secernentea apa-2 37
  • 64 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL3 37
  • 24 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3545 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9573 37
  • 65 (a)
OneToMany
Species with no ortholog for AP2A1:
  • 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)

Paralogs for AP2A1 Gene

Paralogs for AP2A1 Gene

Selected SIMAP similar genes for AP2A1 Gene using alignment to 2 proteins:

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 Sequence Context AA Info Type MAF
rs1003423 -- 49,799,640(+) CGGGA(C/T)GTCAG reference, synonymous-codon
rs1003424 -- 49,801,079(+) CCTGC(A/G)GGGGA intron-variant
rs1273640 -- 49,766,073(+) CACTG(C/T)GGTTG upstream-variant-2KB
rs1273641 -- 49,767,853(+) ATTGC(C/T)TAGAA intron-variant
rs1273642 -- 49,768,062(+) GGCGT(C/T)GGGTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv912269 CNV Loss 21882294
nsv470150 CNV Gain 18288195
dgv53n68 CNV Loss 17160897
nsv912272 CNV Loss 21882294
nsv524546 CNV Loss 19592680
nsv518114 CNV Loss 19592680

Relevant External Links for AP2A1 Gene

HapMap Linkage Disequilibrium report
AP2A1

Disorders for AP2A1 Gene

(1) OMIM Diseases for AP2A1 Gene (601026)

(1) University of Copenhagen DISEASES for AP2A1 Gene

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

No data available for UniProtKB/Swiss-Prot 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 E.E. (Hum. Mol. Genet. 2001) 3 4 23
  2. Cloning, physical mapping and structural characterization of the human alpha(A)-adaptin gene. (PMID: 12036598) Scorilas A. … Diamandis E.P. (Gene 2002) 3 4
  3. 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 23
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  5. Cloning of cDNAs encoding two related 100-kD coated vesicle proteins (alpha-adaptins). (PMID: 2564002) Robinson M.S. (J. Cell Biol. 1989) 2 3

Products for AP2A1 Gene

Sources for AP2A1 Gene

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