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

AP1S3 Gene

protein-coding   GIFtS: 49
GCID: GC02M224580

adaptor-related protein complex 1, sigma 3 subunit
 Explore 4 diseases affiliated with
AP1S3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AP1S3    

Aliases
for AP1S3 gene

(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 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-Adaptin1
Golgi Adaptor HA1/AP1 Adaptin Sigma-1C Subunit2 3     Sigma1C-Adaptin1
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 GC02M224824 GC02M224447 GC02M224325 GC02M216442


Summaries
for AP1S3 gene

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




Genomic Views
for AP1S3 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
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 GC02M224580:  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

Proteins
for AP1S3 gene

(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: 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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96PC3

    • AP1S3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001034658.1  
    ENSEMBL proteins: 
     ENSP00000397155   ENSP00000401705   ENSP00000333888   ENSP00000379891   ENSP00000379890  
     ENSP00000388738   ENSP00000399738   ENSP00000387199   ENSP00000406686  
    Reactome Protein details: Q96PC3
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate: AP1S3
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    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



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    ThermoFisher Antibodies for AP1S3

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    Protein Domains /
    Families
    for AP1S3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AP1S3 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB000804 Clathrin adaptor complex

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


    Function
    for AP1S3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: AP1S3
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AP1S3
    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
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AP1S3 (see all 4)
    OriGene shRNA RFP: AP1S3
    OriGene siRNA: AP1S3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AP1S3

    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP1S3 

    Cell Line
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    Search LifeMap BioReagents cell lines for AP1S3

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1S3

    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



    Pathways & Interactions
    for AP1S3 gene

    (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 - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Clathrin derived vesicle budding
    		Clathrin derived vesicle budding1.00
    		Golgi Associated Vesicle Biogenesis0.89
    		trans-Golgi Network Vesicle Budding1.00
    		Lysosome Vesicle Biogenesis0.39
    2Nef-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 adapters1.00
    		Nef mediated downregulation of MHC class I complex cell surface expression0.48
    		The role of Nef in HIV-1 replication and disease pathogenesis0.75
    		Degradation of MHC I Complex0.48
    3Clathrin-dependent protein traffic
    		Clathrin-dependent protein traffic1.00
    		Transport_Clathrin-coated vesicle cycle0.66
    4Immune System
    		Immune System1.00
    		Adaptive Immune System0.59
    5HIV Infection
    		HIV Infection1.00
    		Host Interactions of HIV factors0.64

    Pathway sources
    See GeneCards unified pathways
    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

    5/15        Reactome Pathways for AP1S3 (see all 15)
        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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IEA--
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0006897endocytosis IEA--
    GO:0016032viral reproduction TAS--
    GO:0016044cellular membrane organization TAS--


    AP1S3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AP1S3 gene

    (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
    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 

    Transcripts
    for AP1S3 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AP1S3
    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
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AP1S3 (see all 4)
    OriGene shRNA RFP: AP1S3
    OriGene siRNA: AP1S3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AP1S3
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AP1S3 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: AP1S3 (NM_001039569)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP1S3 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP1S3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP1S3

    Additional cDNA 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):

    AW070738 BU167040 AA406307 NM_020830 CD171698 BG119034 BU949997 BM541399 
    BG109779 CA440366 CB113572 BM692877 AA450337 BM470844 BF223120 AK023415 
    CB161324 AA411290 BF447259 BQ887960 AF411977 BG177582 AW243572 BG777963 

    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

    Expression
    for AP1S3 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AP1S3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyUreteric BudUreteric Bud CellsKidney
    KidneyUreteric BudUreteric Bud Tip CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for AP1S3 gene

    (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 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 85(a)
    		 1 ↔ 1
    		 3(25087911-25105496)
    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
    		 AdaPtin, Small chain (clathrin associated complex)...
    		 64(a)
    		 1 → many
    		 V(6017951-6018867)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G354106
    AP196
    		 AP-1 complex subunit sigma-1
    		 53(a)
    53(a)
    		 many ↔ many
    many ↔ many
    		 4(16832481-16834009)
    2(7553002-7555045)
    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
    for AP1S3 gene

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

    AP1S3 for paralogs           About GeneDecksing



    Genomic Variants
    for AP1S3 gene

    (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

    10/1711 NCBI SNPs in AP1S3 are shown (see all 1711)     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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for AP1S3
         1 Indel: 90299

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    Disorders / Diseases
    for AP1S3 gene

    (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
    AP1S3 for disorders           About GeneDecksing

    4 diseases for AP1S3:    About MalaCards
    kaposi's sarcoma    sarcoma    immunodeficiency    malaria

    Human Genome Epidemiology (HuGE) Navigator: AP1S3 (1 document)

    Export disorders for AP1S3 gene to outside databases

    Publications
    for AP1S3 gene

    (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 20):
    (articles sorted by number of sources associating them with AP1S3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Adaptins: the final recount. (PubMed id 11598180)1, 2 Boehm M. and Bonifacino J.S. (2001)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    5. 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)
    6. 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)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. HIV-1 Nef stabilizes the association of adaptor protein complexes with membranes. (PubMed id 12486136)1 Janvier K....Guatelli J. (2003)

    External Searches for AP1S3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    Genome Databases showing AP1S3 gene

    (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

    Other Databases showing AP1S3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AP1S3 gene

    (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

    Intellectual Property
    for AP1S3 gene

    (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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