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AP3S1 Gene

protein-coding   GIFtS: 64
GCID: GC05P115177

Adaptor-Related Protein Complex 3, Sigma 1 Subunit


(Previous symbol: CLAPS3)
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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 3, Sigma 1 Subunit1 2     AP-3 Complex Sigma-3A Subunit2
CLAPS31 2 3 5     AP-3 Complex Subunit Sigma-12
Adapter-Related Protein Complex 3 Subunit Sigma-12 3     Clathrin-Associated/Assembly/Adaptor Protein, Small 3 (22kD)2
Clathrin-Associated/Assembly/Adapter Protein, Small 32 3     sigma-3A-adaptin2
Sigma-Adaptin 3a2 3     sigma3A-adaptin2
AP-3 Complex Subunit Sigma-3A2 3     Sigma-3A-adaptin3
Sigma3A2     Sigma3A-adaptin3
Adapter-Related Protein Complex 3 Sigma-1 Subunit2     

External Ids:    HGNC: 20131   Entrez Gene: 11762   Ensembl: ENSG000001778797   OMIM: 6015075   UniProtKB: Q925723   

Export aliases for AP3S1 gene to outside databases

Previous GC identifers: GC05P114945 GC05P115585 GC05P115208 GC05P115253 GC05P115205 GC05P110358


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AP3S1 Gene:
AP3S1 (adaptor-related protein complex 3, sigma 1 subunit) is a protein-coding gene. GO annotations related to this gene include protein transporter activity and transporter activity. An important paralog of this gene is AP3S2.

UniProtKB/Swiss-Prot: AP3S1_HUMAN, Q92572
Function: Part of the AP-3 complex, an adapter-related complex which is not clathrin-associated. The complex is
associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles
from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1
complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and
nerve terminals

Gene Wiki entry for AP3S1 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 at NCBI GenBank:
NC_000005.9  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP3S1 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   POU2F2   Evi-1   POU2F1   FOXJ2 (long isoform)   POU2F1a   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP3S1 promoter sequence
   Search Chromatin IP Primers for AP3S1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP3S1


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

Entrez Gene cytogenetic band: 5q22   Ensembl cytogenetic band:  5q22.3   HGNC cytogenetic band: 5q22

AP3S1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP3S1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P115177:  view genomic region     (about GC identifiers)

Start:
115,177,178 bp from pter      End:
115,249,778 bp from pter
Size:
72,601 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AP3S1_HUMAN, Q92572 (See protein sequence)
Recommended Name: AP-3 complex subunit sigma-1  
Size: 193 amino acids; 21732 Da
Subunit: Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit
AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small
adaptin (sigma-type subunit APS1 or AP3S2). Interacts with AGAP1. AP-3 associates with the BLOC-1 complex (By
similarity)
Secondary accessions: O00647 O00676 O00721 O00727 Q53XL4 Q6ICQ2

Explore the universe of human proteins at neXtProt for AP3S1: NX_Q92572

Explore proteomics data for AP3S1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys18, Lys166
  • Modification sites at PhosphoSitePlus

  • See AP3S1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001275.1  
    ENSEMBL proteins: 
     ENSP00000325369   ENSP00000446179  
    Reactome Protein details: Q92572

    AP3S1 Human Recombinant Protein Products:

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    Novus Biologicals AP3S1 Lysates
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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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    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 Q92572

    ProtoNet protein and cluster: Q92572

    1 Blocks protein domain: IPB000804 Clathrin adaptor complex

    UniProtKB/Swiss-Prot: AP3S1_HUMAN, Q92572
    Similarity: Belongs to the adaptor complexes small subunit family


    Find genes that share domains with AP3S1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AP3S1_HUMAN, Q92572
    Function: Part of the AP-3 complex, an adapter-related complex which is not clathrin-associated. The complex is
    associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles
    from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1
    complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and
    nerve terminals

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity NAS9118953
    GO:0005515protein binding IPI16162817
    GO:0008565protein transporter activity IEA--
         
    Find genes that share ontologies with AP3S1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for AP3S1:
     Synthetic lethal with c-Myc af 

         1 MGI phenotypic allele for Ap3s1 (no phenotypes)

    Find genes that share phenotypes with AP3S1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP3S1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AP3S1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AP3S1

    miRNA
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    miRTarBase miRNAs that target AP3S1:
    hsa-mir-18a-3p (MIRT040959), hsa-mir-30a-5p (MIRT028680), hsa-mir-30c-2-3p (MIRT038700), hsa-mir-877-5p (MIRT037232)

    Block miRNA regulation of human, mouse, rat AP3S1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AP3S1 (see all 13):
    hsa-miR-30c hsa-miR-1290 hsa-miR-137 hsa-miR-30d hsa-miR-619 hsa-miR-1284 hsa-miR-30a hsa-miR-499-5p
    SwitchGear 3'UTR luciferase reporter plasmidAP3S1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AP3S1
    Predesigned siRNA for gene silencing in human, mouse, rat AP3S1

    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP3S1


    (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
    AP3S1_HUMAN, Q92572: Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic
    side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol3
    endoplasmic reticulum1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0030117membrane coat ----
    GO:0030119AP-type membrane coat adaptor complex TAS8697810
    GO:0030123AP-3 adaptor complex IDA9118953
    GO:0030133transport vesicle TAS9118953

    Find genes that share ontologies with AP3S1           About GenesLikeMe


    (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 AP3S1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    2Lysosome
    Lysosome


    Find genes that share SuperPaths with AP3S1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for AP3S1
        Golgi Associated Vesicle Biogenesis


    1 Kegg Pathway  (Kegg details for AP3S1):
        Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP3S1
    Interactions:

        GeneGlobe Interaction Network for AP3S1

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

    Selected Interacting proteins for AP3S1 (Q925723 ENSP000003253694) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206286Q8N1B43I2D: score=1 
    ENSG00000224455Q8N1B43I2D: score=1 
    ENSG00000225590Q8N1B43I2D: score=1 
    ENSG00000228425Q8N1B43I2D: score=1 
    ENSG00000236014Q8N1B43I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006886intracellular protein transport IEA--
    GO:0008089anterograde axon cargo transport ISS--
    GO:0008286insulin receptor signaling pathway TAS9792713
    GO:0015031protein transport ----

    Find genes that share ontologies with AP3S1           About GenesLikeMe



    (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
      Browse compounds at ApexBio 

    Browse Tocris compounds for AP3S1



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AP3S1 gene (2 alternative transcripts): 
    NM_001002924.1  NM_001284.2  

    Unigene Cluster for AP3S1:

    Adaptor-related protein complex 3, sigma 1 subunit
    Hs.406191  [show with all ESTs]
    Unigene Representative Sequence: BX647735
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000316788(uc003krl.3 uc003krk.3) ENST00000514118 ENST00000515066
    ENST00000506430 ENST00000395548 ENST00000509055 ENST00000507436 ENST00000505423

    miRNA
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    Block miRNA regulation of human, mouse, rat AP3S1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AP3S1 (see all 13):
    hsa-miR-30c hsa-miR-1290 hsa-miR-137 hsa-miR-30d hsa-miR-619 hsa-miR-1284 hsa-miR-30a hsa-miR-499-5p
    SwitchGear 3'UTR luciferase reporter plasmidAP3S1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for AP3S1
    Predesigned siRNA for gene silencing in human, mouse, rat AP3S1
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    GenScript: all cDNA clones in your preferred vector: AP3S1 (NM_001284)
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    Primer
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    OriGene qPCR primer pairs and template standards for AP3S1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AP3S1
      QuantiTect SYBR Green Assays in human, mouse, rat AP3S1
      QuantiFast Probe-based Assays in human, mouse, rat AP3S1

    Additional mRNA sequence: 

    AK311843.1 BC000804.1 BC012614.1 BT009833.1 BX647735.1 CR450341.1 D63643.1 U91932.1 
    X99458.1 

    20 DOTS entries:

    DT.100680580  DT.446145  DT.120806560  DT.92441850  DT.100811754  DT.100027919  DT.100839313  DT.101965045 
    DT.95116780  DT.95324197  DT.100811755  DT.102833901  DT.120806510  DT.121379277  DT.91824403  DT.91856822 
    DT.100811761  DT.91742783  DT.92441849  DT.95116781 

    Selected AceView cDNA sequences (see all 264):

    CR614149 CR591574 BM839462 BM974703 NM_001284 BM905087 AA960853 CR623389 
    AA577101 CR601773 CR450341 BM694991 AI201220 BG755025 BM785177 BG924730 
    AA298150 CR612748 BU172631 BC000804 C00083 AW510317 BQ921226 BX101535 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for AP3S1    About this scheme

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


    ECgene alternative splicing isoforms for AP3S1

    (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)
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    AP3S1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAACATTAT
    AP3S1 Expression
    About this image


    AP3S1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Ovary (Reproductive System)
     
     Testis (Reproductive System)
     
     Esophagus (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
    AP3S1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP3S1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.406191

    UniProtKB/Swiss-Prot: AP3S1_HUMAN, Q92572
    Tissue specificity: Present in all adult tissues examined

        Custom PCR Arrays for AP3S1
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    QuantiFast Probe-based Assays in human, mouse, rat AP3S1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP3S1

    (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 AP3S1 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap3s11 , 5 adaptor-related protein complex 3, sigma 1 subunit1, 5 95.16(n)1
    100(a)1
      18 (24.77 cM)5
    117771  NM_009681.41  NP_033811.11 
     467419175 
    chicken
    (Gallus gallus)
    Aves AP3S11 adaptor-related protein complex 3, sigma 1 subunit 88.77(n)
    98.96(a)
      427389  NM_001006586.1  NP_001006586.1 
    lizard
    (Anolis carolinensis)
    Reptilia AP3S16
    adaptor-related protein complex 3, sigma 1 subunit...
    99(a)
    1 ↔ 1
    GL343193.1(8393303-8425628)
    African clawed frog
    (Xenopus laevis)
    Amphibia ap3s1-prov2 adaptor-related protein complex AP-3, sigma 1 subunit 86.21(n)    BC041251.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.13662 Transcribed sequence with moderate similarity to protein more 75.94(n)    57092322 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APS3(YJL024C)4
    APS31
    Small subunit of the clathrin-associated adaptor complex more4
    APS31
    55.56(n)1
    50(a)1
      10(396592-395931)4
    8534291, 4  NP_012510.31  NP_012510.14 


    ENSEMBL Gene Tree for AP3S1 (if available)
    TreeFam Gene Tree for AP3S1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AP3S1 gene
    AP3S22  
    8 SIMAP similar genes for AP3S1 using alignment to 2 protein entries:     AP3S1_HUMAN (see all proteins):
    AP3S2    C15orf38-AP3S2    AP2S1    AP4S1    AP1S1    DKFZp779P0659
    AP1S2    AP1S3

    Find genes that share paralogs with AP3S1           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for AP3S1
    PGOHUM00000239351 PGOHUM00000244415 PGOHUM00000260109 PGOHUM00000241215


    (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 AP3S1 (see all 1389)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1447308411,2
    --115179607(+) TGGCA-/GGTTTT 1 -- int10--------
    rs1382231421,2
    C--115179608(+) GGCAG-/GTTT  
            
    TTTTG
    1 -- int10--------
    rs403231,2
    C,F,H--115179630(-) CCACCA/TGAGCT 1 -- int118Minor allele frequency- T:0.00EA NA NS WA CSA 727
    rs125179991,2
    C,F,H--115179692(+) AGATAT/CAAAAA 1 -- int19Minor allele frequency- C:0.03NS EA 1144
    rs774949971,2
    C--115179723(+) GCCGTT/GTATAG 1 -- int12Minor allele frequency- G:0.25CSA WA 120
    rs1840917431,2
    --115179736(+) GGAGTA/GTGAGA 1 -- int10--------
    rs1889489821,2
    --115179787(+) CCGAGA/TGTTTT 1 -- int10--------
    rs767569781,2
    F--115179797(+) TTTTGT/ACTTTC 1 -- int11Minor allele frequency- A:0.01NA 120
    rs1932527231,2
    --115179866(+) TTTGAC/GGGCAG 1 -- int10--------
    rs1491868291,2
    --115179871(+) GGGCAA/GTTATT 1 -- int10--------

    HapMap Linkage Disequilibrium report for AP3S1 (115177178 - 115249778 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for AP3S1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2730625CNV Deletion23290073
    esv2730626CNV Deletion23290073
    esv2896CNV Deletion18987735
    esv8099CNV Loss19470904
    nsv515611CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AP3S1
    DNA2.0 Custom Variant and Variant Library Synthesis for AP3S1

    (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

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    OMIM gene information: 601507    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for AP3S1:
    Menkes disease

    Find genes that share disorders with AP3S1           About GenesLikeMe

    Genetic Association Database (GAD): AP3S1
    Human Genome Epidemiology (HuGE) Navigator: AP3S1 (2 documents)

    Export disorders for AP3S1 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 AP3S1 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with AP3S1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. AP-3: an adaptor-like protein complex with ubiquitous expression. (PubMed id 9118953)1, 2, 3, 9 Dell'Angelica E.C....Bonifacino J.S. (EMBO J. 1997)
    2. Cloning, expression pattern and mapping to 12p 13.2 --> p13.1 of CLAPS3, a gene encoding a novel clathrin-adaptor small chain. (PubMed id 8697810)1, 2, 3 Watanabe T.K.... Hirai Y. (Cytogenet. Cell Genet. 1996)
    3. Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis. (PubMed id 20512086)1, 4 Zhou J.B....Xin Z. (Med. Sci. Monit. 2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. 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)
    6. Characterization of the adaptor-related protein complex, AP-3. (PubMed id 9151686)1, 2 Simpson F.... Robinson M.S. (J. Cell Biol. 1997)
    7. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (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: 1176 HGNC: 2013 AceView: AP3S1 Ensembl:ENSG00000177879 euGenes: HUgn1176
    ECgene: AP3S1 Kegg: 1176 H-InvDB: AP3S1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for AP3S1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for AP3S1 gene:
    Search GeneIP for patents involving AP3S1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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