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AP1S1 Gene

protein-coding   GIFtS: 55

GC07P095390
adaptor-related protein complex 1, sigma 1 subunit
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CLAPS1)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
adaptor-related protein complex 1, sigma 1 subunit1 2     Sigma-adaptin 1A2 3
AP191 2 3 5     HA1 19 kDa subunit2 3
CLAPS12 3 5     OTTHUMP000002114692
WUGSC:H_DJ0747G18.21 2     sigma1A-adaptin2
SIGMA1A1 2     clathrin-associated/assembly/adaptor protein, small 1 (19kD)2
Sigma 1a subunit of AP-1 clathrin2 3     AP-1 complex subunit sigma-1A2
Golgi adaptor HA1/AP1 adaptin sigma-1A subunit2 3     FLJ924362
Adapter-related protein complex 1 sigma-1A subunit2 3     OTTHUMP000002114682
Adaptor protein complex AP-1 sigma-1A subunit2 3     sigma1A subunit of AP-1 clathrin adaptor complex2
Clathrin assembly protein complex 1 sigma-1A small chain2 3     Sigma1A-adaptin3
Clathrin coat assembly protein AP192 3     

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

Export aliases for AP1S1 gene to outside databases

Previous GC identifers: GC07P099281 GC07P100344 GC07P100357 GC07P100391 GC07P100584 GC07P100797


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AP1S1 gene promoter:
         STAT3   CREB   deltaCREB   RFX1   STAT1beta   STAT1   NRSF form 2   STAT1alpha   NRSF form 1   Bach2   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for AP1S1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for AP1S1 


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

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

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 gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P095390:  view genomic region     (about GC identifiers)

Start:
95,390,854 bp from pter
End:
95,397,722 bp from pter
Size:
6,869 bases
Orientation:
plus strand

1 alternative location:
Chr7+ 100,797,678-100,804,877     
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NT_079596.2  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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 an 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 phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_001274.1  

    ENSEMBL proteins: 
    ENSP00000336666 ENSP00000410780 ENSP00000399902 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: AP1S1
    GenScript Custom Purified and Recombinant Proteins Services for AP1S1 
    Novus Biologicals Protein for AP1S1
    Novus Biologicals Lysate for AP1S1
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/11 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 11):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139 Golgi membrane TAS--
    GO:0005765 lysosomal membrane TAS--
    GO:0005794 Golgi apparatus IEA--
    GO:0005829 cytosol TAS--
    GO:0005905 coated pit IEA--
    About this table

    AP1S1 for ontologies           About GeneDecksing



    Antibodies for AP1S1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for AP1S1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for AP1S1 
    Novus Biologicals Antibodies for AP1S1
    Browse antibodies at Epitomics

    Assays for AP1S1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AP1S1 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


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

    AP1S1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000804 Clathrin_sm-chain_CS
     IPR022775 AP_mu_sigma_su
     IPR016635 AP_complex_ssu
     IPR011012 Longin-like
     IPR015604 Clathrin_AP1_sigma

    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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for AP1S1
    Sigma-Aldrich shRNA for AP1S1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): AP1S1
    OriGene shRNA RFP (see all 2): AP1S1
    OriGene basic RS shRNA (see all 2): AP1S1
    OriGene siRNA (see all 2): AP1S1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of AP1S1 
    miRNA:Sigma-Aldrich microRNA Mimics for AP1S1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of AP1S1 
    2 SABiosciences Assays for microRNAs that regulate AP1S1:
    hsa-miR-582-5p hsa-miR-211

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): AP1S1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): AP1S1
    OriGene untagged cDNA clones in CMV expression vector (see all 2): AP1S1
    Browse 3'-UTR reporter clones for miRNA target validation 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for AP1S1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for AP1S1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI17353931
    GO:0008565 protein transporter activity IEA--
    About this table

    AP1S1 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    AP1S1 for pathways           About GeneDecksing

    1 Millipore Pathway for AP1S1
        Clathrin-dependent protein traffic

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  AP1S1
        CTLA4 Signaling in Cytotoxic T Lymphocytes

    1 Kegg Pathway  (Kegg details for AP1S1):
        hsa04142 Lysosome

        SABiosciences Pathway-Focused PCR Array including AP1S1: PAHS-004A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for AP1S1
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AP1S1

    5/33 Interacting proteins for AP1S1 (ENSP000003366663 P619661) via UniProtKB, MINT, and/or STRING (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARMC6Q6NXE61EBI-516199,EBI-1053802
    RAB10P610261EBI-516199,EBI-726075
    SEC61A1P616191EBI-516199,EBI-358919
    SLC16A1P539851EBI-516199,EBI-1054708
    GK006Q6P2I71EBI-516199,EBI-1047027
    About this table

    5/9 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 9):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810 transport ----
    GO:0006886 intracellular protein transport IEA--
    GO:0006892 post-Golgi vesicle-mediated transport EXP11252894
    GO:0006898 receptor-mediated endocytosis TAS9733768
    GO:0009615 response to virus IEP16548883
    About this table

    AP1S1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AP1S1


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for AP1S1
    Sigma-Aldrich shRNA for AP1S1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): AP1S1
    OriGene shRNA RFP (see all 2): AP1S1
    OriGene basic RS shRNA (see all 2): AP1S1
    OriGene siRNA (see all 2): AP1S1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of AP1S1 
    miRNA: Sigma-Aldrich microRNA Mimics for AP1S1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of AP1S1 
    2 SABiosciences Assays for microRNAs that regulate AP1S1:
    hsa-miR-582-5p hsa-miR-211
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): AP1S1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): AP1S1
    OriGene untagged cDNA clones in CMV expression vector (see all 2): AP1S1
    Browse 3'-UTR reporter clones for miRNA target validation 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for AP1S1 
    Primers: OriGene genome-wide validated SYBR primer pairs: AP1S1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for AP1S1: PPH01815A

    REFSEQ mRNAs for AP1S1 gene: 

    NM_001283.3  

    Additional cDNA sequence: 

    AB015319.1 AK312151.1 BC003561.1 BC127718.1 BT006779.1 CR592205.1 CR599373.1 CR601876.1 
    CR608060.1 

    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):

    CK431081 BM712868 BF795469 CD518188 BI858603 CF453700 CB106935 BQ221339 
    BM449513 CF128366 BX115238 CR592205 CR599373 CR601876 BQ639310 CR608060 
    BU166473 AW732891 NM_001283 BI856945 BM673727 BM745224 BG674285 BQ436867 

    highest scoring ESTs for AP1S1:

    AA010346 AA010347 AA011675 AA011712 AA205622 AA235726 AA311393 AA317054 AA356155 AA399361 

    Unigene Cluster for AP1S1:

    Adaptor-related protein complex 1, sigma 1 subunit
    Hs.489365  [show with all ESTs]
    Unigene Representative Sequence: NM_001283


    GeneLoc Exon Structure

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337619(uc003uxv.3) ENST00000443943 ENST00000429457

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    AP1S1 expression in normal and diseased human tissues

    1  / 2  / 3

    8 probe-sets matching AP1S1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    36498_at2, 3 U95-A 1 0.88 1.00 0.98 0.97 AI936759 0.60 1.00 0.82 1
    72897_at*2, 3 U95-D 1 -- -- -0.24 1.05 AA601662 0.40 1.00 0.76 1
    205196_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001283 0.60 1.00 0.82 1
    205195_at2, 3 U133-A 1 0.91 1.00 -- -- NM_001283 0.60 1.00 0.82 1
    209635_at2, 3 U133-A 1 0.91 1.00 -- -- BC003561 0.80 1.00 0.91 1
    205196_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    205195_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    209635_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    About this table

    AP1S1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    AP1S1 gene expression
    AP1S1 gene electronic northern expression
    AP1S1 gene sage expression
    About these images

    CGAP SAGE TAG: CAGGTTGTCC

    SOURCE GeneReport for Unigene cluster: Hs.489365

    Expression variation in blood from EXPOLDB for AP1S1

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

    Primers: OriGene genome-wide validated SYBR primer pairs: AP1S1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for AP1S1: PPH01815A
        SABiosciences Expression via Pathway-Focused PCR Array including AP1S1: PAHS-004A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for AP1S1 gene from 5/10 species (see all 10)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    AP1S11   -- adaptor-related protein complex 1, sigma 1 subunit 98.94(n)
    100(a)
    740971  XM_001153078.1  XP_001153078.1 
    cow
    (Bos taurus)
    AP1S11   -- adaptor-related protein complex 1, sigma 1 subunit 93.42(n)
    100(a)
    768053  NM_001077110.1  NP_001070578.1 
    rat
    (Rattus norvegicus)
    Ap1s11   -- adaptor-related protein complex 1, sigma 1 subunit 90.72(n)
    100(a)
    360785  XM_341052.3  XP_341053.1 
    mouse
    (Mus musculus)
    Ap1s11 , 5 5 (76.13 cM)5
    adaptor protein complex AP-1, sigma 11, 5 90.72(n)1
    100(a)1
    117691  NM_007457.21  NP_031483.11 
     AA0002215  AK0022255  (see all 11)
    zebrafish
    (Danio rerio)
    hmzewp01592   -- hmzewp0159 78.58(n) 337771  57075384 
    About this table        Species with no ortholog for AP1S1

    ENSEMBL Gene Tree for AP1S1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for AP1S1 gene
    AP4S12  AP1S32  AP2S12  AP1S22  

    AP1S1 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/120 NCBI SNPs in AP1S1 are shown (see all 120)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 7 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs41961,2
    F100804249(-) GGGAGGGTGGA/-
            
    GGTGG
    1 -- ut31 trp34Minor allele frequency- -:0.33EU NA EA 342
    rs10067691,2
    C,A,H,100805044(+) agcaaC/Gctggc 1 -- ng3111Minor allele frequency- G:0.01NS EA NA WA 504
    rs10483031,2
    C,F,A,H,100804140(+) TCACCC/TCAGAT 1 -- ut31 ese317Minor allele frequency- T:0.40EA MN NS NA WA 2210
    rs10483651,2
    C,F,A,100804430(+) GGACCC/TTGGTC 1 -- ut31 ese38Minor allele frequency- T:0.44EA NS NA 2034
    rs10483751,2
    --100804461(+) CAGTTC/TTGGGT 1 -- ut311Minor allele frequency- T:0.00MN 184
    rs10483891,2
    --100804476(+) CAGGAG/ACTGGG 1 -- ut311Minor allele frequency- A:0.00MN 184
    rs20746821,2
    C,100802140(+) gatcaC/Tgccac 1 -- int11Minor allele frequency- T:0.50NA 2
    rs20746831,2
    C,F,A,100803614(+) GCTGGC/TCCTGG 1 -- int16Minor allele frequency- T:0.33EA NA WA 1280
    rs20746841,2
    C,F,100803710(+) TCCCCC/TGTCTG 1 -- int13Minor allele frequency- T:0.31NA EA 162
    rs20746861,2
    C,F,O,A,H,100800635(+) GCGATG/ATCTCA 1 -- int117Minor allele frequency- A:0.38EA NS NA WA 2558
    About this table

    HapMap Linkage Disequilibrium images for AP1S1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AP1S1
         2 CNVs: 8576 5245

    QIAGEN SeqTarget long-range PCR primers for resequencing AP1S1 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AP1S1 for disorders           About GeneDecksing

    OMIM: 603531

    Human Gene Mutation Database (HGMD): AP1S1

    Export disorders and mutations for AP1S1 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/33 PubMed articles for AP1S1 gene, integrated from 7 sources (see all 33):
    (articles sorted by number of sources associating them with AP1S1)
    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. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    7. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. (PubMed id 19057675)1 Montpetit A....Cossette P. (2008)
    8. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)
    9. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)
    10. HIV-1 Nef stabilizes AP-1 on membranes without inducing ARF1-independent de novo attachment. (PubMed id 16253302)1 Coleman S.H....Guatelli J.C. (2006)

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    (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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    ATLAS Chromosomes in Cancer entry for AP1S1 Genetics and Cytogenetics in Oncology and Haematology

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