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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)
 Explore 7 diseases affiliated with
AP1S1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AP1S1    

Aliases
for AP1S1 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 1 Subunit1 2     MEDNIK2
AP191 2 3 5     AP-1 Complex Subunit Sigma-1A2
CLAPS11 2 3 5     Clathrin-Associated/Assembly/Adaptor Protein, Small 1 (19kD)2
SIGMA1A1 2     Sigma1A-Adaptin1
WUGSC:H_DJ0747G18.21 2     Sigma1A Subunit Of AP-1 Clathrin Adaptor Complex2
Adapter-Related Protein Complex 1 Sigma-1A Subunit2 3     Sigma1A-Adaptin1
Clathrin Assembly Protein Complex 1 Sigma-1A Small Chain2 3     Adaptor Protein Complex AP-1 Sigma-1A Subunit3
Clathrin Coat Assembly Protein AP192 3     Sigma 1a Subunit Of AP-1 Clathrin3
Golgi Adaptor HA1/AP1 Adaptin Sigma-1A Subunit2 3     Sigma-Adaptin 1A3
HA1 19 KDa 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


Summaries
for AP1S1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  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 plasmid: AP1S1 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     

Proteins
for AP1S1 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: 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;
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P61966

    • AP1S1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001274.1  
    ENSEMBL proteins: 
     ENSP00000336666   ENSP00000410780   ENSP00000399902  
    Reactome Protein details: P61966
    Human Recombinant Protein Products: 
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    Novus Biologicals AP1S1 Protein
    Novus Biologicals AP1S1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    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



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    Protein Domains /
    Families
    for AP1S1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AP1S1 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 P61966

    ProtoNet protein and cluster: P61966

    1 Blocks protein family: IPB000804 Clathrin adaptor complex

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


    Function
    for AP1S1 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: 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

    miRNA
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    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 plasmid: AP1S1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AP1S1 (see all 7)
    OriGene shRNA RFP: AP1S1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AP1S1

    Gene Editing
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    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AP1S1

    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


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


    Pathways & Interactions
    for AP1S1 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 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

    5/15        Reactome Pathways for AP1S1 (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 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): 5/8 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:0006898receptor-mediated endocytosis TAS9733768
    GO:0009615response to virus IEP16548883
    GO:0016032viral reproduction TAS--


    AP1S1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AP1S1 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 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 

    Transcripts
    for AP1S1 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 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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    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 plasmid: AP1S1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AP1S1 (see all 7)
    OriGene shRNA RFP: AP1S1
    OriGene siRNA: AP1S1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AP1S1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AP1S1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AP1S1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: AP1S1 (NM_001283)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AP1S1
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    Additional cDNA sequence: 

    AB015319.1 AK312151.1 BC003561.1 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):

    CR592205 CF453700 BM673727 NM_001283 CR599373 CF128366 BM745224 CD518188 
    BM449513 BI836310 BQ221339 BI755073 BU166473 CK431081 BM712868 CD672558 
    CR608060 BX115238 BQ639310 BG180308 BI858603 CR601876 BG674285 BF795469 

    GeneLoc Exon Structure


    Expression
    for AP1S1 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

    AP1S1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGGTTGTCC

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

    AP1S1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    ES04(HES-4) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
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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
    for AP1S1 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 AP1S1 gene from 6/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 AdaPtin, Small chain (clathrin associated complex)...
    		 75(a)
    		 1 → many
    		 V(6017951-6018867)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AP196
    AT4G354106
    		 AP-1 complex subunit sigma-2
    		 55(a)
    55(a)
    		 many ↔ many
    many ↔ many
    		 2(7553002-7555045)
    4(16832481-16834009)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 clathrin adaptor complex small chain domain contai...
    clathrin adaptor complex small chain domain contai...
    		 53(a)
    46(a)
    		 many ↔ many
    many ↔ many
    		 3(33961990-33964389)
    3(32506480-32508869)


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

    Paralogs
    for AP1S1 gene

    (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



    Genomic Variants
    for AP1S1 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

    10/177 NCBI SNPs in AP1S1 are shown (see all 177)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs69492431,2
    		C,A,H,--100795707(+) ATTGCG/AAAACC 1 -- us2k111Minor allele frequency- A:0.08NA WA CSA EA 257
    rs69696851,2
    		C,F,A,H,--100795746(+) CTGGGC/TGTCGT 1 -- us2k110Minor allele frequency- T:0.50NA WA CSA EA 371
    rs1856436611,2
    		--100795747(+) TGGGTC/GTCGTA 1 -- us2k10--------
    rs1415955711,2
    		--100795751(+) TGTCGA/TAGCAC 1 -- us2k10--------
    rs1462148291,2
    		--100795758(+) GCACAC/TGCCTA 1 -- us2k10--------
    rs1157347681,2
    		F,--100796055(+) CTTACC/TTACTA 1 -- us2k11Minor allele frequency- T:0.07WA 118
    rs1893038761,2
    		--100796058(+) ACCTAA/CTAGAA 1 -- us2k10--------
    rs1178175201,2
    		C,F,--100796081(+) TTAAAT/GTAACA 1 -- us2k11Minor allele frequency- G:0.02NA 120
    rs1924888361,2
    		--100796103(+) TTTGTA/CATGCC 1 -- us2k10--------
    rs1390669461,2
    		--100796141(+) TTAGTC/TTAGTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AP1S1 (100797678 - 100804877 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AP1S1
         2 CNVs: 8576 5245
    Human Gene Mutation Database (HGMD): AP1S1

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    Disorders / Diseases
    for AP1S1 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
    AP1S1 for disorders           About GeneDecksing

    OMIM gene information: 603531    OMIM disorders: --

    7 diseases for AP1S1:    About MalaCards
    intellectual disability    menkes disease    kaposi's sarcoma    rhabdomyosarcoma
    sarcoma    immunodeficiency    malaria


    Export disorders for AP1S1 gene to outside databases

    Publications
    for AP1S1 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 AP1S1 gene, integrated from 9 sources (see all 45):
    (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. 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)
    3. 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)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    5. 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)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. The Nef-infectivity enigma: mechanisms of enhanced len tiviral infection. (PubMed id 22103831)1 Vermeire J....Verhasselt B. (2011)

    External Searches for AP1S1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
    		PubMed
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    Genome Databases showing AP1S1 gene

    (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

    Other Databases showing AP1S1 gene

    (According to HUGE)
    About This Section
    		   --

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

    Intellectual Property
    for AP1S1 gene

    (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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