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Aliases for AP2A1 Gene

Aliases for AP2A1 Gene

  • Adaptor Related Protein Complex 2 Alpha 1 Subunit 2 3
  • 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, Alpha 1 Subunit 2 3
  • Adaptor Related Protein Complex 2, Alpha 1 Subunit 3 5
  • 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
  • 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
  • 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 Alpha 1 Subunit) is a Protein Coding gene. Diseases associated with AP2A1 include mixed germ cell cancer. Among its related pathways are Signaling by GPCR and Immune System. 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

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

Genomics for AP2A1 Gene

Regulatory Elements for AP2A1 Gene

Promoters for AP2A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AP2A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AP2A1 Gene

Chromosome:
19
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

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. 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

  • Ubiquitination at Lys 165, Lys 880, and Lys 891
  • 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

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

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).
genes like me logo Genes that share phenotypes with AP2A1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for AP2A1 Gene COMPARTMENTS Subcellular localization image for AP2A1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
plasma membrane 5
endosome 4
lysosome 4
vacuole 4
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for AP2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016323 basolateral plasma membrane IEA --
GO:0030117 membrane coat IEA --
GO:0030130 clathrin coat of trans-Golgi network vesicle NAS 12036598
GO:0030131 clathrin adaptor complex 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:0006897 endocytosis NAS 12036598
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007411 axon guidance TAS --
GO:0015031 protein transport IEA --
GO:0016032 viral process TAS --
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:

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

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, 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 expression patterns with AP2A1: view

Protein tissue co-expression partners for AP2A1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia AP2A1 35
  • 92.98 (n)
  • 98.74 (a)
AP2A1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AP2A1 35
  • 92.74 (n)
  • 99.27 (a)
AP2A1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ap2a1 35
  • 89.76 (n)
  • 97.9 (a)
Ap2a1 16
Ap2a1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AP2A1 35
  • 95.58 (n)
  • 94.29 (a)
AP2A1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ap2a1 35
  • 88.64 (n)
  • 97.69 (a)
oppossum
(Monodelphis domestica)
Mammalia AP2A1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AP2A1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AP2A1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ap2a1 35
  • 76.82 (n)
  • 88.45 (a)
zebrafish
(Danio rerio)
Actinopterygii ap2a1 35
  • 75.89 (n)
  • 86.01 (a)
ap2a1 36
  • 85 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta alpha-Adaptin 37
  • 78 (a)
alpha-Adaptin 36
  • 66 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea apa-2 36
  • 64 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APL3 36
  • 24 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3545 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9573 36
  • 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

(1) 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
rs17851121 - 49,795,733(+) CCCGC(C/T)TCCAG reference, missense
rs1003423 -- 49,799,640(+) CGGGA(C/T)GTCAG reference, synonymous-codon
rs1003424 -- 49,801,079(+) CCTGC(A/G)GGGGA intron-variant
rs1640510 -- 49,805,968(+) TGCCG(A/C/G)CCTAT intron-variant
rs2072451 -- 49,796,151(+) ATCTG(G/T)TGGGA 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

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)

Relevant External Links for AP2A1 Gene

HapMap Linkage Disequilibrium report
AP2A1

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

Disorders for AP2A1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AP2A1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mixed germ cell cancer
  • mixed germ cell neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search AP2A1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AP2A1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AP2A1
genes like me logo Genes that share disorders with AP2A1: view

No data available for 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 E.E. (Hum. Mol. Genet. 2001) 3 4 23 67
  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 23
  3. Cloning of cDNAs encoding two related 100-kD coated vesicle proteins (alpha-adaptins). (PMID: 2564002) Robinson M.S. (J. Cell Biol. 1989) 2 3
  4. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for AP2A1 Gene

Sources for AP2A1 Gene

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