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

AP1S3 Gene

protein-coding   GIFtS: 50
GCID: GC02M224616

Adaptor-Related Protein Complex 1, Sigma 3 Subunit

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Adaptor-Related Protein Complex 1, Sigma 3 Subunit1 2     Sigma-Adaptin 1C2 3
Adapter-Related Protein Complex 1 Sigma-1C Subunit2 3     AP-1 Complex Subunit Sigma-32
Adaptor Protein Complex AP-1 Sigma-1C Subunit2 3     Sigma 1C Adaptin2
Clathrin Assembly Protein Complex 1 Sigma-1C Small Chain2 3     sigma1C-adaptin2
Golgi Adaptor HA1/AP1 Adaptin Sigma-1C Subunit2 3     Sigma1C-adaptin3
Sigma 1C Subunit Of AP-1 Clathrin2 3     

External Ids:    HGNC: 189711   Entrez Gene: 1303402   Ensembl: ENSG000001520567   UniProtKB: Q96PC33   

Export aliases for AP1S3 gene to outside databases

Previous GC identifers: GC02M222638 GC02M223342 GC02M224580 GC02M224824 GC02M224447 GC02M224325 GC02M216442


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

GeneCards Summary for AP1S3 Gene: 
AP1S3 (adaptor-related protein complex 1, sigma 3 subunit) is a protein-coding gene. Diseases associated with AP1S3 include kaposi's sarcoma, and sarcoma, and among its related super-pathways are Clathrin-dependent protein traffic and Clathrin derived vesicle budding. GO annotations related to this gene include protein transporter activity. An important paralog of this gene is AP4S1.

UniProtKB/Swiss-Prot: AP1S3_HUMAN, Q96PC3
Function: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the
late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin
to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AP1S3 gene promoter:
         HSF1 (long)   Evi-1   Arnt   Meis-1b   Max   HSF1short   Meis-1a   LyF-1   Meis-1   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for AP1S3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AP1S3


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

Entrez Gene cytogenetic band: 2q36.1   Ensembl cytogenetic band:  2q36.1   HGNC cytogenetic band: 2q36.3

AP1S3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP1S3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M224616:  view genomic region     (about GC identifiers)

Start:
224,616,403 bp from pter      End:
224,702,744 bp from pter
Size:
86,342 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AP1S3_HUMAN, Q96PC3 (See protein sequence)
Recommended Name: AP-1 complex subunit sigma-3  
Size: 154 amino acids; 18280 Da
Subunit: Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit
AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin
(sigma-type subunit AP1S1 or AP1S2 or AP1S3)
Subcellular location: Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic
side. Membrane, clathrin-coated pit. Note=Component of the coat surrounding the cytoplasmic face of coated
vesicles located at the Golgi complex
1 PDB 3D structure from and Proteopedia for AP1S3:
4HMY (3D)    
Secondary accessions: B4DQZ1 Q8WTY1 Q96DD1
Alternative splicing: 4 isoforms:  Q96PC3-1   Q96PC3-2   Q96PC3-4   Q96PC3-3   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for AP1S3: NX_Q96PC3

Explore proteomics data for AP1S3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96PC3

  • AP1S3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AP1S3 Protein Expression
    REFSEQ proteins: NP_001034658.1  
    ENSEMBL proteins: 
     ENSP00000397155   ENSP00000401705   ENSP00000333888   ENSP00000379891   ENSP00000379890  
     ENSP00000388738   ENSP00000399738   ENSP00000387199   ENSP00000406686  
    Reactome Protein details: Q96PC3
    Human Recombinant Protein Products for AP1S3: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005765lysosomal membrane TAS--
    GO:0005829cytosol TAS--
    GO:0005905coated pit IEA--
    GO:0030117membrane coat IEA--

    AP1S3 for ontologies           About GeneDecksing



    AP1S3 Antibody Products: 
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR000804 Clathrin_sm-chain_CS
     IPR022775 AP_mu_sigma_su
     IPR016635 AP_complex_ssu
     IPR011012 Longin-like_dom

    Graphical View of Domain Structure for InterPro Entry Q96PC3

    ProtoNet protein and cluster: Q96PC3

    1 Blocks protein domain: IPB000804 Clathrin adaptor complex

    UniProtKB/Swiss-Prot: AP1S3_HUMAN, Q96PC3
    Similarity: Belongs to the adaptor complexes small subunit family


    AP1S3 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AP1S3_HUMAN, Q96PC3
    Function: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the
    late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin
    to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008565protein transporter activity IEA--
         
    AP1S3 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AP1S3 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AP1S3 
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    miRNA
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    hsa-miR-548j hsa-miR-607 hsa-miR-376b hsa-miR-188-5p hsa-miR-15a hsa-miR-4272 hsa-miR-548a-5p hsa-miR-761
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1S3


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AP1S3 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic0.66
    Transport Clathrin-coated vesicle cycle0.66
    2Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Lysosome Vesicle Biogenesis0.39
    3Nef-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 adapters0.75
    Nef mediated downregulation of MHC class I complex cell surface expression0.48
    The role of Nef in HIV-1 replication and disease pathogenesis0.75
    4HIV Life Cycle
    HIV Infection0.61
    Host Interactions of HIV factors0.60
    5Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for AP1S3
        Clathrin-dependent protein traffic

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AP1S3
        CTLA4 Signaling

    1 GeneGo (Thomson Reuters) Pathway for AP1S3
        Transport Clathrin-coated vesicle cycle

    5/14        Reactome Pathways for AP1S3 (see all 14)
        Membrane Trafficking
    Clathrin derived vesicle budding
    trans-Golgi Network Vesicle Budding
    Adaptive Immune System
    Lysosome Vesicle Biogenesis


    1         Kegg Pathway  (Kegg details for AP1S3):
        Lysosome


    AP1S3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP1S3

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

    5/30 Interacting proteins for AP1S3 (ENSP000003798914) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP1G1ENSP000003771484STRING: ENSP00000377148
    AP1M1ENSP000003889964STRING: ENSP00000388996
    AP1M2ENSP000002502444STRING: ENSP00000250244
    AP1S1ENSP000003366664STRING: ENSP00000336666
    AP1S2ENSP000003287894STRING: ENSP00000328789
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006886intracellular protein transport IEA--
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0006897endocytosis IEA--
    GO:0015031protein transport ----

    AP1S3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for AP1S3:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AP1S3

    Search CenterWatch for drugs/clinical trials and news about AP1S3

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AP1S3 gene (2 alternative transcripts): 
    NM_178814.2  NM_001039569.1  

    Unigene Cluster for AP1S3:

    Adaptor-related protein complex 1, sigma 3 subunit
    Hs.632555  [show with all ESTs]
    Unigene Representative Sequence: NM_001039569
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000443700(uc010fwx.2) ENST00000415298(uc002vnn.3 uc010fww.3 uc002vno.3)
    ENST00000334271 ENST00000396654 ENST00000396653 ENST00000446015 ENST00000444408
    ENST00000409375 ENST00000423110
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/76 QIAGEN miScript miRNA Assays for microRNAs that regulate AP1S3 (see all 76):
    hsa-miR-548j hsa-miR-607 hsa-miR-376b hsa-miR-188-5p hsa-miR-15a hsa-miR-4272 hsa-miR-548a-5p hsa-miR-761
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AP1S3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP1S3
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    Additional mRNA sequence: 

    AF393369.1 AK025338.1 AK299026.1 BC009606.1 

    7 DOTS entries:

    DT.431476  DT.100754576  DT.40208975  DT.120940301  DT.40125328  DT.91836091  DT.95150414 

    24/276 AceView cDNA sequences (see all 276):

    AF393369 AU134546 AA242945 BM786152 AW243572 AF411977 BG177582 BQ887960 
    AA411290 CA398252 BP364649 BX115673 BG759326 AA721432 CB160619 BG777963 
    AK023415 BF447259 CB161324 BF223120 AA450337 BM470844 BM692877 CB113572 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for AP1S3    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8
    SP1:                                -           -                       -         
    SP2:                                -                                             
    SP3:        -     -     -                 -     -                                 
    SP4:                                -           -                                 
    SP5:                                -     -     -                                 


    ECgene alternative splicing isoforms for AP1S3

    (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

    AP1S3 expression in normal human tissues (normalized intensities)      AP1S3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AP1S3 Expression
    About this image


    AP1S3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             visceral organ   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud
             visceral organ/metanephros/renal cortex   
     
     Umbilical Cord (Extraembryonic Tissues)
             Wharton's jelly-derived stem cells
     
     Endothelium (Cardiovascular System)
             Human corneal endothelial cells
     
     Adipose (Muscoskeletal System)
             Body Subcutaneous White Adipose

    See AP1S3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP1S3

    SOURCE GeneReport for Unigene cluster: Hs.632555

    UniProtKB/Swiss-Prot: AP1S3_HUMAN, Q96PC3
    Tissue specificity: Widely expressed

        SABiosciences Custom PCR Arrays for AP1S3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1S3

    (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 AP1S3 gene from 9/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap1s31 , 5 adaptor-related protein complex AP-1, sigma 31, 5 90.48(n)1
    95.45(a)1
      1 (40.92 cM)5
    2529031  NM_183027.21  NP_898848.11 
     796068765 
    chicken
    (Gallus gallus)
    Aves AP1S31 adaptor-related protein complex 1, sigma 3 subunit 81.82(n)
    87.66(a)
      424807  NM_001030008.1  NP_001025179.1 
    lizard
    (Anolis carolinensis)
    Reptilia AP1S36
    Uncharacterized protein
    85(a)
    1 ↔ 1
    3(25066806-25106274)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.165052 Xenopus laevis transcribed sequence with moderate similarity more 76.89(n)    BJ628220.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.10842 Transcribed sequence with moderate similarity to protein more 78.05(n)    BM184887.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta AP-1sigma6
    AP-1sigma
    69(a)
    1 → many
    3R(19784376-19788277)
    worm
    (Caenorhabditis elegans)
    Secernentea aps-16
    Protein APS-1
    64(a)
    1 → many
    V(6017968-6018884)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APS16
    Small subunit of the clathrin-associated adaptor c...
    44(a)
    1 → many
    XII(500579-501049)
    rice
    (Oryza sativa)
    Liliopsida Os03g08113001 hypothetical protein 59.18(n)
    58.5(a)
      4334539  NM_001058205.1  NP_001051670.1 


    ENSEMBL Gene Tree for AP1S3 (if available)
    TreeFam Gene Tree for AP1S3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AP1S3 gene
    AP4S12  AP2S12  AP1S12  AP1S22  
    9 SIMAP similar genes for AP1S3 using alignment to 7 protein entries:     AP1S3_HUMAN (see all proteins):
    DKFZp779P0659    AP1S1    AP1S2    LIN7B    AP2S1    AP4S1
    C15orf38-AP3S2    AP3S2    AP3S1

    AP1S3 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) 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

    10/1925 SNPs in AP1S3 are shown (see all 1925)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1398102451,2
    --224619554(+) CCAGAA/GGTGGA 1 -- int10--------
    rs1915380521,2
    --224619806(+) AATTAC/TGTGTA 1 -- int10--------
    rs1162586211,2
    --224619986(+) AGTAGC/TAATTT 1 -- int10--------
    rs354285411,2
    C--224620011(+) GACTT-/AAAAAA 1 -- int10--------
    rs30994671,2
    C,F,O,A,H--224620181(-) ATCTTA/CCATGG 1 -- ut3116Minor allele frequency- C:0.30NS EA NA WA 1206
    rs1833665731,2
    --224620210(+) ATTTAC/TCCCAC 1 -- ut310--------
    rs1872614971,2
    --224620215(+) CCCCAC/TTGTGC 1 -- ut310--------
    rs121513801,2
    C,F,H--224620222(+) GTGCCA/GTATAG 1 -- ut3119Minor allele frequency- G:0.08NS EA NA WA 2242
    rs126946201,2
    C,A--224620290(+) TCACCT/CGGGCT 1 -- ut312Minor allele frequency- C:0.25NA 4
    rs1921025671,2
    --224620303(+) AGTACA/TGTGGC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for AP1S3 (224616403 - 224702744 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for AP1S3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv3183CNV Insertion18451855
    nsv834554CNV Loss17160897
    nsv834555CNV Loss17160897

    SABiosciences Cancer Mutation 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.)
    About This Section
    2 diseases for AP1S3:    About MalaCards
    kaposi's sarcoma    sarcoma


    AP1S3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AP1S3
    Human Genome Epidemiology (HuGE) Navigator: AP1S3 (1 document)

    Export disorders for AP1S3 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 AP1S3 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with AP1S3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. 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)
    3. Adaptins: the final recount. (PubMed id 11598180)1, 2 Boehm M. and Bonifacino J.S. (2001)
    4. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. HIV-1 Nef stabilizes AP-1 on membranes without inducing ARF1-independent de novo attachment. (PubMed id 16253302)1 Coleman S.H....Guatelli J.C. (2006)
    7. Leucine-specific, functional interactions between human immunodeficiency virus type 1 Nef and adaptor protein complexes. (PubMed id 15681409)1 Coleman S.H....Guatelli J.C. (2005)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    9. HIV-1 Nef disrupts MHC-I trafficking by recruiting AP-1 to the MHC-I cytoplasmic tail. (PubMed id 15569716)1 Roeth J.F....Collins K.L. (2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (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: 130340 HGNC: 18971 AceView: WDFY1andAP1S3 Ensembl:ENSG00000152056 euGenes: HUgn130340
    ECgene: AP1S3 Kegg: 130340 H-InvDB: AP1S3

    (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 AP1S3 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 AP1S3 gene:
    Search GeneIP for patents involving AP1S3

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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