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AP4S1 Gene

protein-coding   GIFtS: 52
GCID: GC14P031494

Adaptor-Related Protein Complex 4, Sigma 1 Subunit

  See AP4S1-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 4, Sigma 1 Subunit1 2     AP-4 Complex Subunit Sigma-12
AP-4 Adapter Complex Subunit Sigma-12 3     Clathrin-Associated/Assembly/Adaptor Protein, Sigma 42
CPSQ62 5     sigma-4-adaptin2
SPG522 5     Sigma-4-adaptin3
AP47B2     Sigma4-adaptin3
CLA202     Adapter-Related Protein Complex 4 Subunit Sigma-13
CLAPS42     Sigma-1 Subunit Of AP-43

External Ids:    HGNC: 5751   Entrez Gene: 111542   Ensembl: ENSG000001004787   OMIM: 6072435   UniProtKB: Q9Y5873   

Export aliases for AP4S1 gene to outside databases

Previous GC identifers: GC14P028870 GC14P025282 GC14P029484 GC14P030564 GC14P011612


(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 AP4S1 Gene:
This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of
the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic
pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the
small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated
vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced
transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is
located on the long arm of chromosome 6. (provided by RefSeq, Dec 2011)

GeneCards Summary for AP4S1 Gene:
AP4S1 (adaptor-related protein complex 4, sigma 1 subunit) is a protein-coding gene. Diseases associated with AP4S1 include spastic paraplegia 52, autosomal recessive, and spastic paraplegia 50, autosomal recessive. GO annotations related to this gene include protein transporter activity and transporter activity. An important paralog of this gene is AP1S3.

UniProtKB/Swiss-Prot: AP4S1_HUMAN, Q9Y587
Function: Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting
proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system

Gene Wiki entry for AP4S1 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_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AP4S1 gene promoter:
         Lmo2   Cdc5   Meis-1b   E47   FOXL1   CREB   deltaCREB   Chx10   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AP4S1 promoter sequence
   Search Chromatin IP Primers for AP4S1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AP4S1


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

Entrez Gene cytogenetic band: 14q12   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q12

AP4S1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AP4S1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P031494:  view genomic region     (about GC identifiers)

Start:
31,494,312 bp from pter      End:
31,562,818 bp from pter
Size:
68,507 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AP4S1_HUMAN, Q9Y587 (See protein sequence)
Recommended Name: AP-4 complex subunit sigma-1  
Size: 144 amino acids; 17005 Da
Subunit: Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit
AP4E1 and beta-type subunitAP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type
AP4S1)
Secondary accessions: G3V2N8 Q6IAQ4 Q86U36 Q9BVE7
Alternative splicing: 4 isoforms:  Q9Y587-1   Q9Y587-2   Q9Y587-3   Q9Y587-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AP4S1: NX_Q9Y587

Explore proteomics data for AP4S1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AP4S1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001121598.1  NP_001241655.1  NP_001241656.1  NP_001241657.1  NP_001241658.1  NP_009008.2  

    ENSEMBL proteins: 
     ENSP00000451479   ENSP00000438170   ENSP00000451918   ENSP00000216366   ENSP00000334484  
     ENSP00000452383   ENSP00000450768   ENSP00000451609   ENSP00000451614   ENSP00000322508  

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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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    3 InterPro protein domains:
     IPR022775 AP_mu_sigma_su
     IPR016635 AP_complex_ssu
     IPR011012 Longin-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y587

    ProtoNet protein and cluster: Q9Y587

    1 Blocks protein domain: IPB000804 Clathrin adaptor complex

    UniProtKB/Swiss-Prot: AP4S1_HUMAN, Q9Y587
    Similarity: Belongs to the adaptor complexes small subunit family


    Find genes that share domains with AP4S1           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: AP4S1_HUMAN, Q9Y587
    Function: Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting
    proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS10436028
    GO:0008565protein transporter activity IEA--
         
    Find genes that share ontologies with AP4S1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for AP4S1:
     G0/1 arrest  Increased G1 DNA content  Increased cell size 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AP4S1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AP4S1
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    miRNA
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    miRTarBase miRNAs that target AP4S1:
    hsa-mir-15b-5p (MIRT046536)

    Block miRNA regulation of human, mouse, rat AP4S1 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate AP4S1:
    hsa-miR-10b* hsa-miR-493* hsa-let-7g* hsa-miR-593* hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmidAP4S1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AP4S1

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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
    AP4S1_HUMAN, Q9Y587: Golgi apparatus, trans-Golgi network. Membrane, coated pit. Note=Associated with the
    trans-Golgi network. Found in soma and dendritic shafts of neuronal cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus3
    cytosol2
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005905coated pit IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with AP4S1           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 AP4S1 About    
    See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome


    Find genes that share SuperPaths with AP4S1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for AP4S1):
        Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AP4S1
    Interactions:

        Search GeneGlobe Interaction Network for AP4S1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for AP4S1 (Q9Y5873 ENSP000002163664) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP4E1Q9UPM83, ENSP000002618424I2D: score=1 STRING: ENSP00000261842
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    GRB2P629933, ENSP000003390074I2D: score=2 STRING: ENSP00000339007
    TMCO4ENSP000002945434STRING: ENSP00000294543
    CLTCENSP000002691224STRING: ENSP00000269122
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0015031protein transport ----

    Find genes that share ontologies with AP4S1           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 AP4S1



    (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 AP4S1 gene (6 alternative transcripts): 
    NM_001128126.2  NM_001254726.1  NM_001254727.1  NM_001254728.1  NM_001254729.1  NM_007077.4  

    Unigene Cluster for AP4S1:

    Adaptor-related protein complex 4, sigma 1 subunit
    Hs.293411  [show with all ESTs]
    Unigene Representative Sequence: NM_001254728
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000557346 ENST00000542754(uc021rry.1 uc001wqy.4 uc021rrz.1)
    ENST00000556232 ENST00000216366(uc001wqx.4 uc010amh.3 uc001wqw.4)
    ENST00000334725 ENST00000554609 ENST00000554345 ENST00000555417 ENST00000556480
    ENST00000313566
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate AP4S1:
    hsa-miR-10b* hsa-miR-493* hsa-let-7g* hsa-miR-593* hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmidAP4S1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AP4S1
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    GenScript: all cDNA clones in your preferred vector (see all 2): AP4S1 (NM_007077)
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    Primer
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    OriGene qPCR primer pairs and template standards for AP4S1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AP4S1
      QuantiTect SYBR Green Assays in human, mouse, rat AP4S1
      QuantiFast Probe-based Assays in human, mouse, rat AP4S1

    Additional mRNA sequence: 

    AB030654.1 AF155159.1 AK056928.1 AK098330.1 AK304115.1 AK316517.1 BC001259.1 BC035622.1 
    BT006701.1 BX247969.1 CR457100.1 

    14 DOTS entries:

    DT.101969372  DT.308587  DT.109846  DT.100664313  DT.100799358  DT.100734802  DT.308586  DT.95179044 
    DT.428203  DT.92419863  DT.100777131  DT.428202  DT.75133566  DT.95235688 

    Selected AceView cDNA sequences (see all 100):

    BX247969 BU620136 CR606567 AI628748 BQ011759 AA308086 CK300931 BG413419 
    AI139578 BE466450 N75507 BX952168 CR606742 AI349361 AA732371 CR592542 
    AI570549 CB961235 BC035622 BF431680 AF155159 AK056928 AA806056 AB030654 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AP4S1    About this scheme

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


    ECgene alternative splicing isoforms for AP4S1

    (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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    AP4S1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTGTGCTAC
    AP4S1 Expression
    About this image

    AP4S1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AP4S1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.293411

    UniProtKB/Swiss-Prot: AP4S1_HUMAN, Q9Y587
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:
     

     
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    (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 AP4S1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ap4s11 , 5 adaptor-related protein complex AP-4, sigma 11, 5 88.89(n)1
    95.83(a)1
      12 (22.11 cM)5
    117821  NM_021710.31  NP_068356.11 
     516909665 
    chicken
    (Gallus gallus)
    Aves AP4S11 adaptor-related protein complex 4, sigma 1 subunit 78.94(n)
    84.72(a)
      423309  XM_004941745.1  XP_004941802.1 
    lizard
    (Anolis carolinensis)
    Reptilia AP4S16
    adaptor-related protein complex 4, sigma 1 subunit...
    65(a)
    1 ↔ 1
    2(56976601-56992074)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.208862 Xenopus laevis transcribed sequence with moderate similarity more 79.75(n)    BQ897444.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ap4s11 adaptor-related protein complex 4, sigma 1 subunit 71.9(n)
    77.14(a)
      368852  NM_001003826.1  NP_001003826.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes APS16
    Small subunit of the clathrin-associated adaptor c...
    29(a)
    1 → many
    XII(500579-501049) YLR170C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G197901 AT2G19790 64.27(n)
    56.83(a)
      816498  NM_127537.3  NP_179569.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g03684001 Os10g0368400 59.34(n)
    55.32(a)
      4348463  NM_001070985.1  NP_001064450.1 


    ENSEMBL Gene Tree for AP4S1 (if available)
    TreeFam Gene Tree for AP4S1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AP4S1 gene
    AP1S32  AP2S12  AP1S12  AP1S22  
    8 SIMAP similar genes for AP4S1 using alignment to 6 protein entries:     AP4S1_HUMAN (see all proteins):
    DKFZp779P0659    AP1S2    AP1S3    AP1S1    AP2S1    C15orf38-AP3S2
    AP3S2    AP3S1

    Find genes that share paralogs with AP4S1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for AP4S1
    PGOHUM00000243705


    (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 AP4S1 (see all 1537)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs40116771,2
    C--11610739(+) AAAAA-/A/AA  
            
    NCCAA
    5 -- us2k11NA 2
    rs344599061,2
    C--11632788(+) TTTTTT/-GAGAC 6 -- int11Minor allele frequency- -:0.00NA 2
    rs1844290041,2
    --11636178(+) CGCACC/TACTGC 6 -- int10--------
    rs1880591511,2
    --11636244(+) ATATAC/TATATA 6 -- int10--------
    rs1813005461,2
    --11636255(+) TATATA/GTATAT 6 -- int10--------
    rs1854228231,2
    --11636268(+) GTATAC/TATATG 6 -- int10--------
    rs1891215111,2
    --11636270(+) ATATAC/TATGTA 6 -- int10--------
    rs795436761,2
    C--11642525(+) GTGTTTG/-TGTGT 6 -- int11Minor allele frequency- -:0.00CSA 2
    rs1120945891,2
    C--11653975(+) GTCTC-/AAAAAA 6 -- int11Minor allele frequency- A:0.00CSA 2
    rs1411488361,2
    C--11661588(+) ATTAT-/CCCCCT 6 -- int10--------

    HapMap Linkage Disequilibrium report for AP4S1 (31494312 - 31562818 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for AP4S1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664388CNV Deletion23128226
    nsv1233CNV Insertion18451855
    nsv901587CNV Loss21882294
    nsv832763CNV Loss17160897
    esv33189CNV Loss17666407
    nsv901581CNV Gain21882294

    Human Gene Mutation Database (HGMD): AP4S1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AP4S1
    DNA2.0 Custom Variant and Variant Library Synthesis for AP4S1

    (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: 607243   
    OMIM disorders: 614067  
    UniProtKB/Swiss-Prot: AP4S1_HUMAN, Q9Y587
  • Cerebral palsy, spastic quadriplegic 6 (CPSQ6) [MIM:614067]: A neurodevelopmental disorder characterized
    by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or
    absent speech development. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for AP4S1:    
    About MalaCards
    spastic paraplegia 52, autosomal recessive    spastic paraplegia 50, autosomal recessive    cerebral palsy


    Find genes that share disorders with AP4S1           About GenesLikeMe


    Export disorders for AP4S1 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 AP4S1 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with AP4S1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Adaptor protein complex 4 deficiency causes severe autosomal- recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. (PubMed id 21620353)1, 2, 3 Abou Jamra R.... Colleaux L. (Am. J. Hum. Genet. 2011)
    2. Characterization of a fourth adaptor-related protein complex. (PubMed id 10436028)1, 2, 3 Hirst J.... Robinson M.S. (Mol. Biol. Cell 1999)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. 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)
    5. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    6. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    8. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PubMed id 18624398)1 Wang J....He F. (J. Proteome Res. 2008)
    9. Large-scale analysis of the human ubiquitin-related proteome. (PubMed id 16196087)1 Matsumoto M....Nakayama K.I. (Proteomics 2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (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)
    About This Section

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    Entrez Gene: 11154 HGNC: 575 AceView: AP4S1 Ensembl:ENSG00000100478 euGenes: HUgn11154
    ECgene: AP4S1 Kegg: 11154 H-InvDB: AP4S1

    (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 AP4S1 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for AP4S1 gene:
    Search GeneIP for patents involving AP4S1

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



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