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AP1S1 Gene

protein-coding   GIFtS: 59
GCID: GC07P100797

Adaptor-Related Protein Complex 1, Sigma 1 Subunit

(Previous name: erythrokeratodermia variabilis 3 (Kamouraska type))
(Previous symbols: CLAPS1, EKV3)
  See AP1S1-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)
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Aliases
Adaptor-Related Protein Complex 1, Sigma 1 Subunit1 2     Adapter-Related Protein Complex 1 Subunit Sigma-1A2 3
CLAPS11 2 3 5     Adaptor Protein Complex AP-1 Subunit Sigma-1A2 3
HA1 19 KDa Subunit1 2 3     MEDNIK2 5
Clathrin Assembly Protein Complex 1 Sigma-1A Small Chain1 2 3     Clathrin-Associated/Assembly/Adaptor Protein1
Clathrin Coat Assembly Protein AP191 2 3     Small 1 (19kD)1
Golgi Adaptor HA1/AP1 Adaptin Sigma-1A Subunit1 2 3     SIGMA1A2
AP192 3 5     WUGSC:H_DJ0747G18.22
EKV31 2     Adapter-Related Protein Complex 1 Sigma-1A Subunit2
Erythrokeratodermia Variabilis 3 (Kamouraska Type)1 2     Clathrin-Associated/Assembly/Adaptor Protein, Small 1 (19kD)2
AP-1 Complex Subunit Sigma-1A1 2     Sigma1A-adaptin3
sigma1A-adaptin1 2     Sigma 1a Subunit Of AP-1 Clathrin3
Sigma1A Subunit Of AP-1 Clathrin Adaptor Complex1 2     Sigma-Adaptin 1A3

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 erythrokeratodermia variabilis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   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 Chromatin IP Primers for AP1S1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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)
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: 

  • Ubiquitination2 at Lys18, Lys133
  • Modification sites at PhosphoSitePlus

  • See AP1S1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001274.1  
    ENSEMBL proteins: 
     ENSP00000336666   ENSP00000410780   ENSP00000399902  
    Reactome Protein details: P61966

    AP1S1 Human Recombinant Protein Products:

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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 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


    Find genes that share domains with AP1S1           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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008565protein transporter activity IEA--
         
    Find genes that share ontologies with AP1S1           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP1S1
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    miRNA
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    hsa-mir-1 (MIRT023801), hsa-mir-204-5p (MIRT005815)

    Block miRNA regulation of human, mouse, rat AP1S1 using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat AP1S1

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    GenScript: all cDNA clones in your preferred vector: AP1S1 (NM_001283)
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    (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
    AP1S1_HUMAN, P61966: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol4
    lysosome4
    vacuole4
    mitochondrion2
    plasma membrane2
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (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

    Find genes that share ontologies with AP1S1           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 AP1S1 About   (see all 9)  
    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
    Lysosome Vesicle Biogenesis0.41
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    trans-Golgi Network Vesicle Budding0.89
    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 adapters0.76
    Nef mediated downregulation of MHC class I complex cell surface expression0.00
    The role of Nef in HIV-1 replication and disease pathogenesis0.76
    4HIV Life Cycle
    HIV Infection0.62
    Host Interactions of HIV factors0.60
    5Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41


    Find genes that share SuperPaths with AP1S1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

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


    4 Reactome Pathways for AP1S1
        Golgi Associated Vesicle Biogenesis
    Lysosome Vesicle Biogenesis
    Nef mediated downregulation of MHC class I complex cell surface expression
    MHC class II antigen presentation


    1 Kegg Pathway  (Kegg details for AP1S1):
        Lysosome

        Pathway & Disease-focused RT2 Profiler PCR Array including AP1S1: 
              Cancer Drug Resistance in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for AP1S1

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

    Selected Interacting proteins for AP1S1 (P619663 ENSP000003366664) via UniProtKB, MINT, STRING, and/or I2D (see all 110)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP2A2O949733, ENSP000004132344I2D: score=2 STRING: ENSP00000413234
    SEC61A1P616193, ENSP000002432534I2D: score=2 STRING: ENSP00000243253
    SLC16A1P539853, ENSP000003586404I2D: score=2 STRING: ENSP00000358640
    AP1G2O758433, ENSP000003124424I2D: score=1 STRING: ENSP00000312442
    AP1M2Q9Y6Q53, ENSP000002502444I2D: score=1 STRING: ENSP00000250244
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    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

    Find genes that share ontologies with AP1S1           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 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,
    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 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
    miRNA
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    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
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      QuantiTect SYBR Green Assays in human, mouse, rat AP1S1
      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 

    Selected AceView cDNA sequences (see all 218):

    CR608060 BG180308 BX115238 CR599373 CD672558 BI836310 BI856945 BQ639310 
    BM826146 BM449513 BM745224 NM_001283 CB106935 CR601876 BI755073 BU166473 
    CF453700 CD518188 CK431081 BI858603 CF128366 BG674285 AW732891 BF795469 

    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™, 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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    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

    AP1S1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP1S1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.489365

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

        Pathway & Disease-focused RT2 Profiler PCR Array including AP1S1: 
              Cancer Drug Resistance in human mouse rat

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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AP1S1 gene from Selected species (see all 17)    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 (aps-1) mRNA, complete cds
    75(a)
    1 → many
    V(6017970-6018884) WBGene00000159
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APS16
    Small subunit of the clathrin-associated adaptor c...
    51(a)
    1 → many
    XII(500579-501049) YLR170C
    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)
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    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

    Find genes that share paralogs with AP1S1           About GenesLikeMe



    (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 AP1S1 (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603531   
    OMIM disorders: 609313  
    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

  • 2 diseases for AP1S1:    
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    mednik syndrome    erythrokeratodermia variabilis


    Find genes that share disorders with AP1S1           About GenesLikeMe


    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)
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    PubMed articles for AP1S1 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with AP1S1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. (PubMed id 19057675)1, 2, 3 Montpetit A....Cossette P. (PLoS Genet. 2008)
    2. Identification and characterization of novel clathrin adaptor-related proteins. (PubMed id 9733768)1, 2, 3 Takatsu H.... Nakayama K. (J. Biol. Chem. 1998)
    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. (Cell. Microbiol. 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. (Genome Res. 2004)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 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. (Genomics 1998)
    7. MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. (PubMed id 23423674)1 Martinelli D....Dionisi-Vici C. (Brain 2013)
    8. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 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: 1174 HGNC: 559 AceView: AP1S1 Ensembl:ENSG00000106367 euGenes: HUgn1174
    ECgene: AP1S1 Kegg: 1174 H-InvDB: AP1S1

    (According to HUGE)
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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)
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    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.)
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    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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