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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AP2A1 Gene

protein-coding   GIFtS: 61
GCID: GC19P050270

adaptor-related protein complex 2, alpha 1 subunit


(Previous symbols: CLAPA1, ADTAA)
 Explore 16 diseases affiliated with
AP2A1 via our new
 Human Malady Compendium 
Biological research products
for AP2A1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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     Adaptin, Alpha A2
Adapter-Related Protein Complex 2 Alpha-1 Subunit2 3     Alpha1-Adaptin1
Adaptor Protein Complex AP-2 Subunit Alpha-12 3     AP-2 Complex Subunit Alpha-12
Alpha-Adaptin A2 3     Clathrin-Associated/Assembly/Adaptor Protein, Large, Alpha 12
Clathrin Assembly Protein Complex 2 Alpha-A Large Chain2 3     Alpha1-Adaptin1
Plasma Membrane Adaptor HA2/AP2 Adaptin Alpha A Subunit2 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AP2A1:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AP2A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
50,310,369 bp from pter
Size:
40,190 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: 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)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95782

  • AP2A1 Protein expression data from MOPED and PaxDb:    About this image 
    AP2A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_055018.2  NP_570603.2  

    ENSEMBL proteins: 
     ENSP00000346246   ENSP00000351926  
    Reactome Protein details: O95782
    Human Recombinant Protein Products for AP2A1: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0016323basolateral plasma membrane IEA--
    GO:0016324apical plasma membrane IEA--
    GO:0030117membrane coat ----

    AP2A1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    AP2A1 for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR008152 Clathrin_a/b/g-adaptin_app_Ig
     IPR017104 AP2_complex_asu
     IPR011989 ARM-like
     IPR013038 Clathrin_a-adaptin_app_Ig-like
     IPR002553 Clathrin/coatomer_adapt-like_N

    Graphical View of Domain Structure for InterPro Entry O95782

    ProtoNet protein and cluster: O95782

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


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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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 - Customizable classic, inducible, and humanized mouse model solutions for AP2A1 

    miRNA
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    8/24 QIAGEN miScript miRNA 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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP2A1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/21 super-pathways (see all 21About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Axon guidance
    Axon guidance1.00
    Recycling pathway of L10.15
    Developmental Biology0.69
    Signal transduction by L10.12
    L1CAM interactions0.39
    2Transport of MHC II:Ii complex along Golgi to TGN
    Internalization of MHC II:Ii clathrin coated vesicle0.52
    EGFR downregulation0.00
    Endocytic Trafficking of EGFR0.00
    Retrograde neurotrophin signalling0.00
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)0.00
    3Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic1.00
    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
    4Degradation of CD4
    Degradation of CD41.00
    Degradation of CD80.75
    Nef Mediated CD4 Down-regulation0.78
    Nef Mediated CD8 Down-regulation0.75
    5Signaling by FGFR
    Signaling by EGFR0.84
    NGF signalling via TRKA from the plasma membrane0.70
    Signaling by EGFR in Cancer0.83
    Signalling by NGF0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for AP2A1
        Clathrin-dependent protein traffic

    3 Downloadable PowerPoint Slides of QIAGEN 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

    5/31        Reactome Pathways for AP2A1 (see all 31)
        L1CAM interactions
    Developmental Biology
    Internalization of MHC II:Ii clathrin coated vesicle
    Transmission across Chemical Synapses
    Signaling by EGFR in Cancer


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


    AP2A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP2A1

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

    5/168 Interacting proteins for AP2A1 (O957822, 3 ENSP000003519264) via UniProtKB, MINT, STRING, and/or I2D (see all 168)
    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
    SMAD9O151982, 3MINT-62146 I2D: score=3 
    NUMBP497572, 3, ENSP000003471694MINT-4298264 I2D: score=2 STRING: ENSP00000347169
    GRB2P629932, 3, ENSP000003390074MINT-61545 I2D: score=1 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AP2A1
    Search CenterWatch for drugs/clinical trials and news about AP2A1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354293(uc010enj.1 uc002ppo.3 uc010enk.3) ENST00000359032(uc002ppn.3 uc002ppp.1)


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    Additional cDNA 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.95101305  DT.95296843  DT.100801367  DT.100878217  DT.100878227  DT.100878228  DT.100731895  DT.100878207 
    DT.100878212  DT.121499994  DT.86848069  DT.95101330 

    24/318 AceView cDNA sequences (see all 318):

    BQ063673 CF125907 BU931133 CB045211 AI089828 CK819897 BQ217442 AI827964 
    BX342233 CA488155 CF126028 AI279375 BQ070936 BM707592 BU184981 CR595429 
    AW674761 BE274905 NM_014203 CD671215 AI683915 BX341226 AA031924 CB044192 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AP2A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACGCAGAAG
    AP2A1 Expression
    About this image

    AP2A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural CrestCardiac Neural CrestCardiac Neural Crest CellsNeural Crest
    Neural CrestTrunk Neural CrestTrunk Neural Crest CellsNeural Crest
    Neural EctodermNeural Plate BorderNeural Crest CellsNeural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See AP2A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP2A1

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP2A1 gene from 7/26 species (see all 26)    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
    90.22(n)1
    98.53(a)1
      7 (29.01 cM)5
    117711  NM_007458.21  NP_031484.11 
     449003735 
    lizard
    (Anolis carolinensis)
    Reptilia AP2A16
    --
    89(a)
    1 ↔ 1
    6(80196262-80233542)
    zebrafish
    (Danio rerio)
    Actinopterygii CR936975.26
    --
    85(a)
    1 ↔ 1
    3(32503428-32536625)
    fruit fly
    (Drosophila melanogaster)
    Insecta alpha-Adaptin3 non-selective vesicle coating 78(a)   21C4   --
    worm
    (Caenorhabditis elegans)
    Secernentea apa-26
    AdaPtin, Alpha chain (clathrin associated complex)...
    64(a)
    1 → many
    X(9336760-9342892)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons alpha-ADR6
    AT5G227806
    AP-2 complex subunit alpha-2
    34(a)
    34(a)
    many ↔ many
    many ↔ many
    5(7579263-7588249)
    5(7589854-7598049)
    rice
    (Oryza sativa)
    Liliopsida --
    adapitin protein, putative, expressed
    35(a)
    1 → many
    3(697191-707686)


    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)
    About This Section
    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/699 NCBI SNPs in AP2A1 are shown (see all 699    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2015603191,2
    C--46686102(+) GGCGCC/TTCTGT 3 -- ds50010--------
    rs798670311,2
    C,F--46686644(+) AGGGGC/TTGTGT 3 -- ut31 nc-transcript-variant2Minor allele frequency- T:0.07WA EA 238
    rs1127143811,2
    C--46687033(+) AACGCG/ATGGGG 3 -- int12Minor allele frequency- A:0.04CSA WA 120
    rs1412257021,2
    --50268299(+) TGAGCC/TGAGAT 3 -- us2k10--------
    rs1926471941,2
    --50268337(+) CAGAGA/GGAGAC 3 -- us2k10--------
    rs741742981,2
    C--50268359(+) AAAAAA/GAAAAA 3 -- us2k13Minor allele frequency- G:0.00NA 6
    rs12736391,2
    C--50268401(+) GTAATC/TCCAGC 3 -- us2k16Minor allele frequency- T:0.00NA WA 12
    rs1886242121,2
    --50268548(+) CTTGGA/GAGGCT 2 -- us2k10--------
    rs1807174071,2
    --50268616(+) CCACTA/GCACCC 2 -- us2k10--------
    rs1503110451,2
    --50268687(+) GGGATA/TAATAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for AP2A1 (50270180 - 50310369 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for AP2A1
         4 CNVs: 78227 89283 5114 32261

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AP2A1 for disorders           About GeneDecksing

    OMIM gene information: 601026    OMIM disorders: --

    16 diseases for AP2A1:    About MalaCards
    teratocarcinoma    seminoma    huntington's disease    myeloid leukemia
    gout    pancreatic cancer    prostate carcinoma    breast cancer
    pancreatitis    leukemia    cholesterol    prostatitis
    immunodeficiency    carcinoma    malaria    neuronitis

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

    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)
    About This Section

    PubMed articles for AP2A1 gene, integrated from 9 sources (see all 87):
    (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. (2001)
    2. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (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. (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. (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. (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. (2001)
    7. Cloning of cDNAs encoding two related 100-kD coated v esicle proteins (alpha-adaptins). (PubMed id 2564002)1, 3 Robinson M.S. (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. (2008)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Targeted ubiquitination and degradation of G-protein-c oupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PubMed id 22952844)1 Wu Z....Ma L. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 160 HGNC: 561 AceView: AP2A1 Ensembl:ENSG00000196961 euGenes: HUgn160
    ECgene: AP2A1 Kegg: 160 H-InvDB: AP2A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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