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AP2A1 Gene

protein-coding   GIFtS: 62
GCID: GC19P050270

Adaptor-Related Protein Complex 2, Alpha 1 Subunit


(Previous symbols: CLAPA1, ADTAA)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adaptor-Related Protein Complex 2, Alpha 1 Subunit1 2     100 KDa Coated Vesicle Protein A2 3
ADTAA1 2 3 5     AP2-ALPHA2
CLAPA11 2 3 5     Adapter-Related Protein Complex 2 Alpha-1 Subunit2
Adapter-Related Protein Complex 2 Subunit Alpha-12 3     Adaptin, Alpha A2
Adaptor Protein Complex AP-2 Subunit Alpha-12 3     alpha1-adaptin2
Alpha-Adaptin A2 3     AP-2 Complex Subunit Alpha-12
Clathrin Assembly Protein Complex 2 Alpha-A Large Chain2 3     Clathrin-Associated/Assembly/Adaptor Protein, Large, Alpha 12
Plasma Membrane Adaptor HA2/AP2 Adaptin Alpha A Subunit2 3     Alpha1-adaptin3

External Ids:    HGNC: 5611   Entrez Gene: 1602   Ensembl: ENSG000001969617   OMIM: 6010265   UniProtKB: O957823   

Export aliases for AP2A1 gene to outside databases

Previous GC identifers: GC19P050928 GC19P050638 GC19P054946 GC19P054961 GC19P046646


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 gout, and seminoma. GO annotations related to this gene include protein transporter activity and protein C-terminus binding. An important paralog of this gene is AP2A2.

UniProtKB/Swiss-Prot: AP2A1_HUMAN, O95782
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 Wiki entry for AP2A1 (Adaptor-related protein complex 2, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP2A1 gene promoter:
         HOXA9   HOXA9B   Pax-5   Egr-1   Olf-1   c-Ets-1   Meis-1b   ARP-1   Pax-4a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP2A1 promoter sequence
   Search Chromatin IP Primers for AP2A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP2A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

AP2A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP2A1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P050270:  view genomic region     (about GC identifiers)

Start:
50,270,180 bp from pter      End:
50,310,370 bp from pter
Size:
40,191 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AP2A1_HUMAN, O95782 (See protein sequence)
Recommended Name: AP-2 complex subunit alpha-1  
Size: 977 amino acids; 107546 Da
Subunit: 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
Sequence caution: Sequence=AAD15564.1; Type=Erroneous gene model prediction;
Secondary accessions: Q96CI7 Q96PP6 Q96PP7 Q9H070
Alternative splicing: 2 isoforms:  O95782-1   O95782-2   

Explore the universe of human proteins at neXtProt for AP2A1: NX_O95782

Explore proteomics data for AP2A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys117, Lys165, Lys880, Lys891
  • Modification sites at PhosphoSitePlus

  • See AP2A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_055018.2  NP_570603.2  

    ENSEMBL proteins: 
     ENSP00000346246   ENSP00000351926   ENSP00000472492  
    Reactome Protein details: O95782

    AP2A1 Human Recombinant Protein Products:

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    Novus Biologicals AP2A1 Protein
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    Browse Proteins at Cloud-Clone Corp.

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    Abcam antibodies for AP2A1 (O95782, O94973)
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 10):
     IPR017104 AP2_complex_asu
     IPR011989 ARM-like
     IPR002553 Clathrin/coatomer_adapt-like_N
     IPR003164 Clathrin_a-adaptin_app_sub_C
     IPR013041 Coatomer/clathrin_app_Ig-like

    Graphical View of Domain Structure for InterPro Entry O95782

    ProtoNet protein and cluster: O95782

    3 Blocks protein domains:
    IPB002553 Adaptin
    IPB003164 Alpha adaptin
    IPB008152 Alpha/gamma adaptin


    UniProtKB/Swiss-Prot: AP2A1_HUMAN, O95782
    Similarity: Belongs to the adaptor complexes large subunit family


    AP2A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AP2A1_HUMAN, O95782
    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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI19116314
    GO:0008022protein C-terminus binding IEA--
    GO:0008565protein transporter activity IEA--
         
    AP2A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AP2A1:
     Decreased viability with pacli 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Ap2a1):
     no phenotypic analysis 

    AP2A1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP2A1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AP2A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AP2A1

    miRNA
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    miRTarBase miRNAs that target AP2A1:
    hsa-mir-30b-5p (MIRT023447), hsa-mir-103a-3p (MIRT027091), hsa-mir-324-3p (MIRT042848), hsa-mir-16-5p (MIRT031661), hsa-mir-30a-5p (MIRT005209), hsa-mir-221-3p (MIRT046880), hsa-mir-34a-5p (MIRT025297)

    Block miRNA regulation of human, mouse, rat AP2A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AP2A1 (see all 24):
    hsa-miR-30c hsa-miR-1321 hsa-miR-15a hsa-miR-331-3p hsa-miR-765 hsa-miR-30d hsa-miR-218 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidAP2A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AP2A1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): AP2A1 (NM_130787)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP2A1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP2A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AP2A1_HUMAN, O95782: Cell membrane (By similarity). Membrane, coated pit; Peripheral membrane protein;
    Cytoplasmic side (By similarity). Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from
    sites of endocytosis seconds before internalization of the nascent CCV (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane5
    cytosol4
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016323basolateral plasma membrane IEA--
    GO:0016324apical plasma membrane IEA--

    AP2A1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AP2A1 About   (see all 24)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Endocytic Trafficking of EGFR
    Endocytic Trafficking of EGFR0.36
    Cholesterol and Sphingolipids transport Influx to the early endosome in lung normal and CF 0.35
    Retrograde neurotrophin signalling0.36
    Recycling pathway of L10.33
    2Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    wtCFTR and delta508 CFTR traffic Generic schema norm and CF 0.37
    Transport Clathrin coated vesicle cycle0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    3Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    4Signaling by FGFR
    Signaling by EGFR0.83
    NGF signalling via TRKA from the plasma membrane0.71
    Signaling by EGFR in Cancer0.82
    Signalling by NGF0.71
    5Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
    Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters0.76
    Nef Mediated CD4 Down-regulation0.00
    The role of Nef in HIV-1 replication and disease pathogenesis0.76
    Nef Mediated CD8 Down-regulation0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for AP2A1
        Notch Signaling Pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AP2A1
        CTLA4 Signaling
    Endocytic Trafficking of EGFR
    p38 Signaling

    4 GeneGo (Thomson Reuters) Pathways for AP2A1
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    3 BioSystems Pathways for AP2A1
        EGFR1 Signaling Pathway
    Synaptic Vesicle Pathway
    Arf1 pathway

    Selected Reactome Pathways for AP2A1 (see all 8)
        Retrograde neurotrophin signalling
    WNT5A-dependent internalization of FZD4
    Nef Mediated CD8 Down-regulation
    EGFR downregulation
    Nef Mediated CD4 Down-regulation


    4 Kegg Pathways  (Kegg details for AP2A1):
        Endocytosis
    Synaptic vesicle cycle
    Endocrine and other factor-regulated calcium reabsorption
    Huntington's disease


    AP2A1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP2A1
    Interactions:

        Search GeneGlobe Interaction Network for AP2A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AP2A1 (O957822, 3 ENSP000003519264) via UniProtKB, MINT, STRING, and/or I2D (see all 203)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIP1O002912, 3, ENSP000003367474MINT-18401 MINT-18402 MINT-18399 MINT-18400 I2D: score=2 STRING: ENSP00000336747
    TOE1Q96GM82, 3, ENSP000003611624MINT-64598 I2D: score=4 STRING: ENSP00000361162
    NUMBP497572, 3, ENSP000003471694MINT-4298264 I2D: score=2 STRING: ENSP00000347169
    GRB2P629932, 3, ENSP000003390074MINT-61545 I2D: score=1 STRING: ENSP00000339007
    SMAD9O151982, 3MINT-62146 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport NAS12036598
    GO:0006895Golgi to endosome transport NAS12036598
    GO:0006897endocytosis NAS12036598
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007268synaptic transmission TAS--

    AP2A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for AP2A1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AP2A1 gene (2 alternative transcripts): 
    NM_014203.2  NM_130787.2  

    Unigene Cluster for AP2A1:

    Adaptor-related protein complex 2, alpha 1 subunit
    Hs.467125  [show with all ESTs]
    Unigene Representative Sequence: NM_014203
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354293(uc010enj.1 uc002ppo.3 uc010enk.3) ENST00000600199
    ENST00000359032(uc002ppn.3 uc002ppp.1) ENST00000597774 ENST00000593788
    ENST00000600466 ENST00000594838 ENST00000601356
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate AP2A1 (see all 24):
    hsa-miR-30c hsa-miR-1321 hsa-miR-15a hsa-miR-331-3p hsa-miR-765 hsa-miR-30d hsa-miR-218 hsa-miR-374c
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    GenScript: all cDNA clones in your preferred vector (see all 2): AP2A1 (NM_130787)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP2A1
    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat AP2A1

    Additional mRNA sequence: 

    AK090661.1 AK094317.1 AK096757.1 AK124343.1 AK302005.1 AL136925.1 BC014214.2 BC111754.1 

    20 DOTS entries:

    DT.450640  DT.100697175  DT.100878220  DT.100039647  DT.97766632  DT.97795998  DT.100878221  DT.100878209 
    DT.95296843  DT.100801367  DT.100878217  DT.100878227  DT.100878228  DT.95101305  DT.100731895  DT.100878207 
    DT.100878212  DT.121499994  DT.86848069  DT.95101330 

    Selected AceView cDNA sequences (see all 318):

    BC014214 BU931133 CA488155 BU849860 AI869595 CB045211 BU181629 BE274905 
    AI683915 BU556986 CB124131 CF125907 BF944013 BX341226 CK819897 BM708087 
    AW024972 BX342233 BQ278113 BU146849 BQ070936 AL136925 BU552656 AI298958 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    AP2A1 expression in normal human tissues (normalized intensities)      AP2A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACGCAGAAG
    AP2A1 Expression
    About this image


    AP2A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             Cardiac Neural Crest Cells Cardiac Neural Crest
     
     Neural Ectoderm (Nervous System)
             Neural Crest Cells Neural Plate Border
     
     Heart (Cardiovascular System)
             Cardiac progenitor cells (Sca1+)
    AP2A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP2A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.467125

    UniProtKB/Swiss-Prot: AP2A1_HUMAN, O95782
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for AP2A1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap2a11 , 5 adaptor protein complex AP-2, alpha 1 subunit5
    adaptor-related protein complex 2, alpha 1 subunit1
    89.76(n)1
    97.9(a)1
      7 (29.01 cM)5
    117711  NM_007458.21  NP_031484.11 
     449003735 
    lizard
    (Anolis carolinensis)
    Reptilia AP2A16
    adaptor-related protein complex 2, alpha 1 subunit...
    87(a)
    1 ↔ 1
    6(80196262-80233754)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ap2a11 adaptor-related protein complex 2, alpha 1 subunit 76.82(n)
    88.45(a)
      100038257  NM_001097377.1  NP_001090846.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ap2a11 adaptor-related protein complex 2, alpha 1 subunit 75.89(n)
    86.01(a)
      558153  XM_005164062.1  XP_005164119.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta alpha-Adaptin3 non-selective vesicle coating 78(a)   21C4   --
    worm
    (Caenorhabditis elegans)
    Secernentea apa-26
    Protein APA-2 (apa-2) mRNA, complete cds
    64(a)
    1 → many
    X(9336819-9342951) WBGene00000161
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APL36
    Alpha-adaptin, large subunit of the clathrin assoc...
    24(a)
    1 → many
    II(147209-150286) YBL037W


    ENSEMBL Gene Tree for AP2A1 (if available)
    TreeFam Gene Tree for AP2A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AP2A1 gene
    AP2A22  
    1 SIMAP similar gene for AP2A1 using alignment to 2 protein entries:     AP2A1_HUMAN (see all proteins):
    AP2A2

    AP2A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AP2A1 (see all 890)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1886242121,2
    C--50268548(+) CTTGGA/GAGGCT 2 -- us2k10--------
    rs1807174071,2
    --50268616(+) CCACTA/GCACCC 2 -- us2k10--------
    rs1503110451,2
    --50268687(+) GGGATA/TAATAA 2 -- us2k10--------
    rs580262651,2
    C,F--50269051(+) CAGTTC/GCCTTT 2 -- us2k12Minor allele frequency- G:0.05WA 120
    rs1379866381,2
    C--50269063(+) TCCCAA/C/GATTTC 2 -- us2k10--------
    rs1836459581,2
    --50269164(+) TGGAGA/GCTGGG 2 -- us2k10--------
    rs761515331,2
    --50269210(+) AACAAA/GTGTTG 2 -- us2k10--------
    rs12736401,2
    C,F,O,H--50269330(+) CACTGT/CGGTTG 2 -- us2k127Minor allele frequency- C:0.06MN NA NS EA WA CSA 2586
    rs2021592171,2
    C--50269338(+) TTGGAA/CANNNN 2 -- us2k10--------
    rs1128557051,2
    C--50269340(+) GGACAA/CAAAAA 2 -- us2k12Minor allele frequency- C:0.09CSA WA 120

    HapMap Linkage Disequilibrium report for AP2A1 (50270180 - 50310370 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for AP2A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv912269CNV Loss21882294
    nsv912272CNV Loss21882294
    nsv524546CNV Loss19592680
    dgv53n68CNV Loss17160897
    nsv518114CNV Loss19592680
    nsv470150CNV Gain18288195
    nsv9739CNV Gain+Loss18304495

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601026   
    OMIM disorders: 006942  
    12 diseases for AP2A1:    About MalaCards
    gout    seminoma    teratocarcinoma    huntington's disease
    hiv-1    pancreatic cancer    myeloid leukemia    pancreatitis
    leukemia    breast cancer    neuronitis    prostatitis

    1 disease from the University of Copenhagen DISEASES database for AP2A1:
    Teratocarcinoma

    AP2A1 for disorders           About GeneDecksing


    Export disorders for AP2A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AP2A1 gene, integrated from 10 sources (see all 96):
    (articles sorted by number of sources associating them with AP2A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The huntingtin interacting protein HIP1 is a clathrin and alpha- adaptin-binding protein involved in receptor-mediated endocytosis. (PubMed id 11532990)1, 2, 9 Waelter S....Wanker E.E. (Hum. Mol. Genet. 2001)
    2. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Cloning, physical mapping and structural characterization of the human alpha(A)-adaptin gene. (PubMed id 12036598)1, 2 Scorilas A.... Diamandis E.P. (Gene 2002)
    5. Rab11-FIP2, an adaptor protein connecting cellular components involved in internalization and recycling of epidermal growth factor receptors. (PubMed id 12364336)1, 2 Cullis D.N.... Feig L.A. (J. Biol. Chem. 2002)
    6. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    7. Cloning of cDNAs encoding two related 100-kD coated vesicle proteins (alpha-adaptins). (PubMed id 2564002)1, 3 Robinson M.S. (J. Cell Biol. 1989)
    8. Inhibitory function of adapter-related protein complex 2 alpha 1 subunit in the process of nuclear translocation of human immunodeficiency virus type 1 genome. (PubMed id 18178234)1, 9 Kitagawa Y....Ikuta K. (Virology 2008)
    9. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    10. RNF111/Arkadia is a SUMO-targeted ubiquitin ligase that facilitates the DNA damage response. (PubMed id 23751493)1 Poulsen S.L....Mailand N. (J. Cell Biol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 160 HGNC: 561 AceView: AP2A1 Ensembl:ENSG00000196961 euGenes: HUgn160
    ECgene: AP2A1 Kegg: 160 H-InvDB: AP2A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AP2A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AP2A1 gene:
    Search GeneIP for patents involving AP2A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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