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

AP1S1 Gene

protein-coding   GIFtS: 60
GCID: GC07P100797

Adaptor-Related Protein Complex 1, Sigma 1 Subunit


(Previous symbol: CLAPS1)
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 1 Subunit1 2     Clathrin-Associated/Assembly/Adaptor Protein1
CLAPS11 2 3 5     Small 1 (19kD)1
HA1 19 KDa Subunit1 2 3     MEDNIK2
Clathrin Assembly Protein Complex 1 Sigma-1A Small Chain1 2 3     SIGMA1A2
Clathrin Coat Assembly Protein AP191 2 3     WUGSC:H_DJ0747G18.22
Golgi Adaptor HA1/AP1 Adaptin Sigma-1A Subunit1 2 3     Clathrin-Associated/Assembly/Adaptor Protein, Small 1 (19kD)2
AP192 3 5     Sigma1A-adaptin3
AP-1 Complex Subunit Sigma-1A1 2     Adaptor Protein Complex AP-1 Sigma-1A Subunit3
sigma1A-adaptin1 2     Sigma 1a Subunit Of AP-1 Clathrin3
Sigma1A Subunit Of AP-1 Clathrin Adaptor Complex1 2     Sigma-Adaptin 1A3
Adapter-Related Protein Complex 1 Sigma-1A Subunit2 3     

External Ids:    HGNC: 5591   Entrez Gene: 11742   Ensembl: ENSG000001063677   OMIM: 6035315   UniProtKB: P619663   

Export aliases for AP1S1 gene to outside databases

Previous GC identifers: GC07P099281 GC07P100344 GC07P100357 GC07P100391 GC07P100584 GC07P095390


(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 AP1S1 Gene:
The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors
in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as
beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located
at the Golgi vesicle. (provided by RefSeq, Jul 2008)

GeneCards Summary for AP1S1 Gene: 
AP1S1 (adaptor-related protein complex 1, sigma 1 subunit) is a protein-coding gene. Diseases associated with AP1S1 include mednik syndrome, and menkes disease, 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 AP1S3.

UniProtKB/Swiss-Prot: AP1S1_HUMAN, P61966
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 Wiki entry for AP1S1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AP1S1 gene promoter:
         USF1   HTF   Olf-1   MIF-1   CUTL1   RORalpha2   Egr-4   USF-1   STAT3   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAP1S1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AP1S1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AP1S1


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

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

AP1S1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP1S1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P100797:  view genomic region     (about GC identifiers)

Start:
100,797,678 bp from pter      End:
100,804,877 bp from pter
Size:
7,200 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 100,156,073-100,162,944     

(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: AP1S1_HUMAN, P61966 (See protein sequence)
Recommended Name: AP-1 complex subunit sigma-1A  
Size: 158 amino acids; 18733 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
Sequence caution: Sequence=AAD45829.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2R5D8 P82267 Q00382 Q53YA7 Q9BTN4 Q9UDW9
Alternative splicing: 2 isoforms:  P61966-1, Q00382-1   P61966-2, Q00382-2   

Explore the universe of human proteins at neXtProt for AP1S1: NX_P61966

Explore proteomics data for AP1S1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P61966

  • AP1S1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AP1S1 Protein Expression
    REFSEQ proteins: NP_001274.1  
    ENSEMBL proteins: 
     ENSP00000336666   ENSP00000410780   ENSP00000399902  
    Reactome Protein details: P61966
    Human Recombinant Protein Products for AP1S1: 
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    Novus Biologicals AP1S1 Protein
    Novus Biologicals AP1S1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005765lysosomal membrane TAS--
    GO:0005829cytosol TAS--
    GO:0005905coated pit IEA--
    GO:0030121AP-1 adaptor complex TAS9733768

    AP1S1 for ontologies           About GeneDecksing



    AP1S1 Antibody Products: 
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    (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 P61966

    ProtoNet protein and cluster: P61966

    1 Blocks protein domain: IPB000804 Clathrin adaptor complex

    UniProtKB/Swiss-Prot: AP1S1_HUMAN, P61966
    Similarity: Belongs to the adaptor complexes small subunit family


    AP1S1 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: AP1S1_HUMAN, P61966
    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
    Induction: Up-regulated in response to enterovirus 71 (EV71) infection

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008565protein transporter activity IEA--
         
    AP1S1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for AP1S1:
     Cell division defect  Increased G2M DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AP1S1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AP1S1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AP1S1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AP1S1 

    miRNA
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    miRTarBase miRNAs that target AP1S1:
    hsa-mir-204 (MIRT005815)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AP1S1
    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate AP1S1 (see all 23):
    hsa-miR-642a hsa-let-7d hsa-let-7c hsa-let-7g hsa-miR-649 hsa-let-7a hsa-miR-204 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidAP1S1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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                         Customized lentivirus expression plasmids for stable overexpression of AP1S1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1S1


    (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 AP1S1 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 AP1S1
        Clathrin-dependent protein traffic

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AP1S1
        CTLA4 Signaling

    1 GeneGo (Thomson Reuters) Pathway for AP1S1
        Transport Clathrin-coated vesicle cycle

    5/14        Reactome Pathways for AP1S1 (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 AP1S1):
        Lysosome


    AP1S1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP1S1

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

    5/93 Interacting proteins for AP1S1 (P619663 ENSP000003366664) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP2A2O949733, ENSP000004132344I2D: score=2 STRING: ENSP00000413234
    SEC61A1P616193, ENSP000002432534I2D: score=2 STRING: ENSP00000243253
    AP1M2Q9Y6Q53, ENSP000002502444I2D: score=1 STRING: ENSP00000250244
    AP1G1O437473, ENSP000003771484I2D: score=3 STRING: ENSP00000377148
    AP1G2O758433, ENSP000003124424I2D: score=1 STRING: ENSP00000312442
    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:0006898receptor-mediated endocytosis TAS9733768
    GO:0009615response to virus IEP16548883

    AP1S1 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 AP1S1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AP1S1

    Search CenterWatch for drugs/clinical trials and news about AP1S1

    (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 AP1S1 gene (2 alternative transcripts): 
    NM_001283.3  NM_057089.2  

    Unigene Cluster for AP1S1:

    Adaptor-related protein complex 1, sigma 1 subunit
    Hs.489365  [show with all ESTs]
    Unigene Representative Sequence: NM_001283
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337619(uc003uxv.4) ENST00000443943 ENST00000429457
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AP1S1
    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate AP1S1 (see all 23):
    hsa-miR-642a hsa-let-7d hsa-let-7c hsa-let-7g hsa-miR-649 hsa-let-7a hsa-miR-204 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidAP1S1 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AP1S1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AP1S1
    Sirion Biotech Customized lentivirus for stable overexpression of AP1S1 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP1S1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP1S1

    Additional mRNA sequence: 

    AB015319.1 AK312151.1 BC003561.1 BC127718.1 BT006779.1 

    9 DOTS entries:

    DT.100679961  DT.92435189  DT.100794186  DT.443952  DT.121126401  DT.121126515  DT.121126523  DT.92435185 
    DT.92015495 

    24/218 AceView cDNA sequences (see all 218):

    CB106935 BX115238 CD672558 BM449513 BF795469 BI856945 BQ221339 AW732891 
    BQ436867 NM_001283 BG674285 CK431081 CF128366 CR601876 BI836310 CF453700 
    BM673727 BI858603 BG180308 CD518188 BM712868 BU166473 CR599373 BM745224 

    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

    AP1S1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGTTGTCC
    AP1S1 Expression
    About this image


    See AP1S1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AP1S1

    SOURCE GeneReport for Unigene cluster: Hs.489365

    UniProtKB/Swiss-Prot: AP1S1_HUMAN, P61966
    Tissue specificity: Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Array including AP1S1: 
              Cancer Drug Resistance in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AP1S1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1S1

    (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 AP1S1 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap1s11 , 5 adaptor protein complex AP-1, sigma 11, 5 90.72(n)1
    100(a)1
      5 (76.13 cM)5
    117691  NM_007457.21  NP_031483.11 
     1370349935 
    African clawed frog
    (Xenopus laevis)
    Amphibia Ap1s12 similar to adaptor protein complex AP-1, sigma 1 78.86(n)    BC045095.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hmzewp01592 hmzewp0159 78.58(n)   337771  57075384 
    fruit fly
    (Drosophila melanogaster)
    Insecta AP-1&sgr;3 non-selective vesicle coating 77(a)   95D1   --
    worm
    (Caenorhabditis elegans)
    Secernentea aps-16
    Protein APS-1
    75(a)
    1 → many
    V(6017968-6018884)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APS16
    Small subunit of the clathrin-associated adaptor c...
    51(a)
    1 → many
    XII(500579-501049)
    barley
    (Hordeum vulgare)
    Liliopsida BF260988.22   -- 74.22(n)    BF260988.2 


    ENSEMBL Gene Tree for AP1S1 (if available)
    TreeFam Gene Tree for AP1S1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AP1S1 gene
    AP1S32  AP4S12  AP2S12  AP1S22  
    8 SIMAP similar genes for AP1S1 using alignment to 2 protein entries:     AP1S1_HUMAN (see all proteins):
    DKFZp779P0659    AP1S2    AP1S3    AP2S1    AP4S1    C15orf38-AP3S2
    AP3S2    AP3S1

    AP1S1 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

    10/222 SNPs in AP1S1 are shown (see all 222)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs778703451,2
    --95393360(+) CTTCCC/TTTTTT 1 -- int10--------
    rs679433221,2
    C--100161654(-) TGTGT-/GCGCGCC 1 -- int11Minor allele frequency- GC:0.00NA 2
    rs1504400691,2
    C--100162637(+) CCACCC/TTCCCC 1 -- ut310--------
    rs340438251,2
    C,F--100800193(+) TTTTT-/T/TT  
            
    CTCCC
    1 -- int14NA CSA 8
    rs41961,2
    C,F--100804243(-) GGGAGGGTGGA/-
            
    GGTGG
    1 -- cds1 trp34Minor allele frequency- -:0.33EU NA EA 342
    rs69492431,2
    C,A,H--104161185(+) attgcG/Aaaacc 1 -- us2k111Minor allele frequency- A:0.08NA WA CSA EA 257
    rs69696851,2
    C,F,A,H--104161224(+) ctgggC/Tgtcgt 1 -- us2k110Minor allele frequency- T:0.50NA WA CSA EA 371
    rs1856436611,2
    --104161225(+) TGGGTC/GTCGTA 1 -- us2k10--------
    rs1415955711,2
    --104161229(+) TGTCGA/TAGCAC 1 -- us2k10--------
    rs1462148291,2
    C--104161236(+) GCACAC/TGCCTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AP1S1 (100797678 - 100804877 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for AP1S1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2734888CNV Deletion23290073
    esv2422376CNV Duplication17116639
    dgv7409n71CNV Loss21882294
    nsv831075CNV Loss17160897
    esv2752134CNV Gain17911159


    Human Gene Mutation Database (HGMD): AP1S1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AP1S1
    DNA2.0 Custom Variant and Variant Library Synthesis for AP1S1

    (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
    OMIM gene information: 603531    OMIM disorders: --

    UniProtKB/Swiss-Prot: AP1S1_HUMAN, P61966
  • Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK)
    [MIM:609313]: A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor
    retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty
    acids and severe congenital diarrhea. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 7 diseases for AP1S1:    About MalaCards
    mednik syndrome    menkes disease    intellectual disability    kaposi's sarcoma
    rhabdomyosarcoma    hiv type 1    sarcoma


    AP1S1 for disorders           About GeneDecksing


    Export disorders for AP1S1 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 AP1S1 gene, integrated from 9 sources (see all 50):
    (articles sorted by number of sources associating them with AP1S1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of novel clathrin adaptor-related proteins. (PubMed id 9733768)1, 2, 3 Takatsu H.... Nakayama K. (1998)
    2. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. (PubMed id 19057675)1, 2 Montpetit A....Cossette P. (2008)
    3. Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection. (PubMed id 16548883)1, 2 Leong W.F. and Chow V.T. (2006)
    4. 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)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    6. Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG). (PubMed id 9653655)1, 3 Peyrard M.... Dumanski J.P. (1998)
    7. MEDNIK syndrome: a novel defect of copper metabolism t reatable by zinc acetate therapy. (PubMed id 23423674)1 Martinelli D....Dionisi-Vici C. (2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. 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. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1174 HGNC: 559 AceView: AP1S1 Ensembl:ENSG00000106367 euGenes: HUgn1174
    ECgene: AP1S1 Kegg: 1174 H-InvDB: AP1S1

    (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 AP1S1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AP1S1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AP1S1 gene:
    Search GeneIP for patents involving AP1S1

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



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    About This Section

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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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