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APPL1 Gene

protein-coding   GIFtS: 63
GCID: GC03P057237

Adaptor Protein, Phosphotyrosine Interaction, PH Domain...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adaptor Protein, Phosphotyrosine Interaction, PH Domain And Leucine
Zipper Containing 11 2
     DCC-Interacting Protein 13-Alpha2
APPL2 3 5     dip13-alpha2
Adapter Protein Containing PH Domain, PTB Domain And Leucine Zipper Motif
12 3
     Signaling Adaptor Protein DIP13alpha2
DIP13alpha2     DIP13A3
Adaptor Protein Containing PH Domain, PTB Domain And Leucine Zipper Motif
12
     Dip13-alpha3
AKT2 Interactor2     KIAA14283

External Ids:    HGNC: 240351   Entrez Gene: 260602   Ensembl: ENSG000001575007   OMIM: 6042995   UniProtKB: Q9UKG13   

Export aliases for APPL1 gene to outside databases

Previous GC identifer: GC09U990006


(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 APPL1 Gene:
The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the
crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many
other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1
complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated
to the nucleus. (provided by RefSeq, Jul 2008)

GeneCards Summary for APPL1 Gene:
APPL1 (adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1) is a protein-coding gene. Diseases associated with APPL1 include skin lipoma, and exophthalmos. GO annotations related to this gene include protein kinase B binding and identical protein binding. An important paralog of this gene is APPL2.

UniProtKB/Swiss-Prot: DP13A_HUMAN, Q9UKG1
Function: Required for the regulation of cell proliferation in response to extracellular signals from an early
endosomal compartment. Links Rab5 to nuclear signal transduction

Gene Wiki entry for APPL1 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:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the APPL1 gene promoter:
         AP-1   ATF-2   FOXO1a   CUTL1   c-Jun   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): APPL1 promoter sequence
   Search Chromatin IP Primers for APPL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APPL1


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

Entrez Gene cytogenetic band: 3p21.1-p14.3   Ensembl cytogenetic band:  3p14.3   HGNC cytogenetic band: 3p21.1-p14.3

APPL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APPL1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P057237:  view genomic region     (about GC identifiers)

Start:
57,261,765 bp from pter      End:
57,307,499 bp from pter
Size:
45,735 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: DP13A_HUMAN, Q9UKG1 (See protein sequence)
Recommended Name: DCC-interacting protein 13-alpha  
Size: 709 amino acids; 79663 Da
Subunit: Binds RAB5A/Rab5 through an N-terminal domain. This interaction is essential for its recruitment to
endosomal membranes as well as its role in cell proliferation. Binds DCC and the catalytic domain of the inactive
form of AKT2 through its PID domain. Binds PIK3CA and subunits of the NuRD/MeCP1 complex. Interacts with OCRL and
INPP5B
Selected PDB 3D structures from and Proteopedia for APPL1 (see all 7):
2EJ8 (3D)        2ELA (3D)        2ELB (3D)        2Q12 (3D)        2Q13 (3D)        2Z0N (3D)    
Secondary accessions: Q9P2B9

Explore the universe of human proteins at neXtProt for APPL1: NX_Q9UKG1

Explore proteomics data for APPL1 at MOPED

Post-translational modifications: 

  • Phosophorylation at Ser-410 by PKA severely impairs binding to OCRL1
  • Ubiquitination2 at Lys63, Lys66, Lys581
  • Modification sites at PhosphoSitePlus

  • See APPL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036228.1  
    ENSEMBL proteins: 
     ENSP00000288266   ENSP00000419644   ENSP00000406095  
    Reactome Protein details: Q9UKG1

    APPL1 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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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing

    4 InterPro protein domains:
     IPR027267 AH/BAR-dom
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR006020 PTB/PI_dom

    Graphical View of Domain Structure for InterPro Entry Q9UKG1

    ProtoNet protein and cluster: Q9UKG1

    2 Blocks protein domains:
    IPB001849 Pleckstrin-like
    IPB006020 Phosphotyrosine interaction domain


    UniProtKB/Swiss-Prot: DP13A_HUMAN, Q9UKG1
    Domain: Overexpression of an N-terminal domain (residues 1-319) or a C-terminal region (residues 273-709) has a
    proapoptotic effect
    Domain: The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is
    essential for binding to OCRL and INPP5B (PubMed:21666675)
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 PID domain


    APPL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DP13A_HUMAN, Q9UKG1
    Function: Required for the regulation of cell proliferation in response to extracellular signals from an early
    endosomal compartment. Links Rab5 to nuclear signal transduction

         Genatlas biochemistry entry for APPL1:
    amyloid beta (A4) precursor protein-like 1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10490823
    GO:0042802identical protein binding IPI17581628
    GO:0043422protein kinase B binding IPI17848569
         
    APPL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for APPL1:
     Decreased telomerase activity 

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Appl1):
     cardiovascular system  cellular  hematopoietic system  homeostasis/metabolism  immune system 
     muscle  no phenotypic analysis 

    APPL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for APPL1: Appl1tm1Ymli Appl1tm1.2Test

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APPL1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APPL1

    miRNA
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    miRTarBase miRNAs that target APPL1:
    hsa-let-7b-5p (MIRT051903), hsa-mir-877-3p (MIRT037107), hsa-let-7e-5p (MIRT051527), hsa-mir-192-5p (MIRT026723), hsa-mir-96-5p (MIRT027894), hsa-mir-32-5p (MIRT028333), hsa-mir-21-5p (MIRT030980), hsa-mir-324-3p (MIRT042832), hsa-mir-215-5p (MIRT024351), hsa-mir-340-5p (MIRT019612), hsa-mir-423-3p (MIRT042464)

    Block miRNA regulation of human, mouse, rat APPL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate APPL1 (see all 81):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-300 hsa-miR-106a hsa-miR-146a hsa-miR-93 hsa-miR-298 hsa-miR-155*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat APPL1

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    Sino Biological Human cDNA Clone for APPL1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APPL1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APPL1


    (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
    DP13A_HUMAN, Q9UKG1: Early endosome membrane; Peripheral membrane protein. Nucleus. Note=Early endosomal
    membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following
    internalization of EGF
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    nucleus5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15016378
    GO:0005737cytoplasm IC10490823
    GO:0005829cytosol IDA17848569
    GO:0010008endosome membrane TAS--
    GO:0012506vesicle membrane IDA17848569

    APPL1 for ontologies           About GeneDecksing


    (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 APPL1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    Regulation of Apoptosis0.82
    Role of DCC in regulating apoptosis0.00
    Apoptosis0.38
    2Endometrial cancer
    Colorectal cancer0.42
    3Pathways in cancer
    Pathways in cancer
    4FSH signaling pathway
    FSH signaling pathway
    5EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for APPL1
        A-beta Uptake & Degradation
    A-beta Plaque Formation & APP Metabolism

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for APPL1
        Colorectal Cancer Metastasis

    1 Cell Signaling Technology (CST) Pathway for APPL1
        Cytoskeletal Signaling

    3 BioSystems Pathways for APPL1
        EGFR1 Signaling Pathway
    FSH signaling pathway
    Coregulation of Androgen receptor activity


    1 Reactome Pathway for APPL1
        Role of DCC in regulating apoptosis


    2 Kegg Pathways  (Kegg details for APPL1):
        Pathways in cancer
    Colorectal cancer


    APPL1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for APPL1
    Interactions:

        GeneGlobe Interaction Network for APPL1

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

    Selected Interacting proteins for APPL1 (Q9UKG11, 2, 3 ENSP000002882664) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAB5AP203391, 2, 3, ENSP000002730474EBI-741243,EBI-399437 MINT-5208195 MINT-5207947 MINT-5208011 MINT-5208211 MINT-5208131 MINT-5208179 MINT-5207810 MINT-5208163 MINT-5208092 MINT-5204180 MINT-5207850 MINT-5207979 MINT-5208147 MINT-5208115 MINT-5207882 MINT-5204043 MINT-5207931 I2D: score=3 STRING: ENSP00000273047
    RAB21Q9UL251, 2, 3, ENSP000002612634EBI-741243,EBI-1056039 MINT-5207865 MINT-5207834 MINT-5207897 MINT-5208028 MINT-5207964 MINT-5208076 MINT-5207996 MINT-5207916 MINT-5204063 MINT-5208044 MINT-5208060 I2D: score=1 STRING: ENSP00000261263
    APPL1Q9UKG11, 2EBI-741243,EBI-741243 MINT-5204138 MINT-5204160 MINT-5204097 MINT-5204118
    RAB22AQ9UL262, 3, ENSP000002440404MINT-5204082 I2D: score=1 STRING: ENSP00000244040
    ADIPOR2Q86V241, 3EBI-741243,EBI-1769445 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0007049cell cycle IEA--
    GO:0007165signal transduction TAS10490823
    GO:0008283cell proliferation IDA15016378
    GO:0008286insulin receptor signaling pathway TAS17848569

    APPL1 for ontologies           About GeneDecksing



    (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 APPL1 (DP13A)

    4 Novoseek inferred chemical compound relationships for APPL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphotyrosine 60.2 3 10490823 (1), 16622416 (1)
    leucine 57.1 3 10490823 (1), 20133602 (1), 16622416 (1)
    phosphatidylinositol 34.3 2 19824473 (1), 12621049 (1)
    lipid 0 3 17490420 (1), 16622416 (1)



    APPL1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for APPL1 gene: 
    NM_012096.2  

    Unigene Cluster for APPL1:

    Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
    Hs.476415  [show with all ESTs]
    Unigene Representative Sequence: NM_012096
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000288266(uc011bey.1 uc003dio.3) ENST00000482800(uc010hnb.3)
    ENST00000495803 ENST00000468342 ENST00000444459 ENST00000464446 ENST00000488530
    ENST00000492501
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    Selected qRT-PCR Assays for microRNAs that regulate APPL1 (see all 81):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-300 hsa-miR-106a hsa-miR-146a hsa-miR-93 hsa-miR-298 hsa-miR-155*
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      QuantiTect SYBR Green Assays in human, mouse, rat APPL1
      QuantiFast Probe-based Assays in human, mouse, rat APPL1

    Additional mRNA sequence: 

    AB037849.2 AF169797.1 AF424738.1 AK299008.1 AK310716.1 BC010911.1 BC028599.2 

    12 DOTS entries:

    DT.446507  DT.95173832  DT.120849391  DT.102831436  DT.120849366  DT.120849405  DT.91745628  DT.91941675 
    DT.100846330  DT.121185668  DT.40127103  DT.97803138 

    Selected AceView cDNA sequences (see all 216):

    BE042691 AW780152 Z41777 AA555008 AV705401 BE018782 BQ018907 CF137406 
    AA259239 AA749042 AA723492 BP337120 AA485861 AA436158 AI522138 AB037849 
    AA243013 AI923863 N22489 BM904076 AI337416 CB154051 BU622290 BX092721 

    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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    APPL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    APPL1 Expression
    About this image


    APPL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    APPL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APPL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.476415

    UniProtKB/Swiss-Prot: DP13A_HUMAN, Q9UKG1
    Tissue specificity: High levels in heart, ovary, pancreas and skeletal muscle

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    QuantiFast Probe-based Assays in human, mouse, rat APPL1
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APPL1

    (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 chordates.

    Orthologs for APPL1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Appl11 , 5 adaptor protein, phosphotyrosine interaction, PH domain more1, 5 92.36(n)1
    98.3(a)1
      14 (16.09 cM)5
    729931  NM_145221.21  NP_660256.11 
     269189885 
    chicken
    (Gallus gallus)
    Aves APPL11 adaptor protein, phosphotyrosine interaction, PH domain more 81.92(n)
    91.36(a)
      416002  XM_414344.4  XP_414344.4 
    lizard
    (Anolis carolinensis)
    Reptilia APPL16
    adaptor protein, phosphotyrosine interaction, PH d...
    89(a)
    1 ↔ 1
    2(163042527-163071216)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC689862 hypothetical protein MGC68986 77.92(n)    BC060752.1 
    zebrafish
    (Danio rerio)
    Actinopterygii appl11 adaptor protein, phosphotyrosine interaction, PH domain more 71.95(n)
    80.59(a)
      571540  NM_001128074.1  NP_001121546.1 


    ENSEMBL Gene Tree for APPL1 (if available)
    TreeFam Gene Tree for APPL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APPL1 gene
    APPL22  
    1 SIMAP similar gene for APPL1 using alignment to 3 protein entries:     DP13A_HUMAN (see all proteins):
    APPL2

    APPL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), 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 APPL1 (see all 802)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359094
    A breast cancer sample4--see VAR_0359092 E Q mis40--------
    rs728758751,2
    C,F--57259872(+) TTGGCC/TAAGTT 1 -- us2k12Minor allele frequency- T:0.35WA 120
    rs2009527441,2
    --57259913(+) CTTTT-/CTTTTT 1 -- us2k10--------
    rs1812475181,2
    --57260006(+) GGCTTC/TAACTG 1 -- us2k10--------
    rs1381047781,2
    --57260121(+) GGCTGC/GTCTTG 1 -- us2k10--------
    rs20560001,2
    C,H--57260150(-) ggcagG/Ctggat 1 -- us2k16Minor allele frequency- C:0.00NA CSA 11
    rs1132284061,2
    F--57260223(+) TTTCTC/TATACA 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1890908131,2
    --57260275(+) CACAAC/TCTTTC 1 -- us2k10--------
    rs728758801,2
    C,F--57260306(+) GTTCAA/TTCAGG 1 -- us2k13Minor allele frequency- T:0.36WA CSA 121
    rs1809716291,2
    --57260362(+) ATGGTA/GTTCTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for APPL1 (57261765 - 57307499 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for APPL1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APPL1
    DNA2.0 Custom Variant and Variant Library Synthesis for APPL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604299    OMIM disorders: --

    Selected diseases for APPL1 (see all 22):    
    About MalaCards
    skin lipoma    exophthalmos    lipoma    nephronophthisis
    microcephaly    prader-willi syndrome    intellectual disability    angelman syndrome
    muscular atrophy    breast and colorectal cancer    coronary artery disease    diabetes mellitus
    obesity    tonsillitis    insulin resistance    cerebritis
    colorectal cancer    endotheliitis    ovarian cancer    alzheimer's disease

    5 diseases from the University of Copenhagen DISEASES database for APPL1:
    Nephronophthisis     Prader-Willi syndrome     Angelman syndrome     Intellectual disability
    Exophthalmos

    APPL1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for APPL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 31.5 1 12456644 (1)

    Genetic Association Database (GAD): APPL1
    Human Genome Epidemiology (HuGE) Navigator: APPL1 (2 documents)

    Export disorders for APPL1 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 APPL1 gene, integrated from 10 sources (see all 92):
    (articles sorted by number of sources associating them with APPL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a chromosome 3p14.3-21.1 gene, APPL, encoding an adaptor molecule that interacts with the oncoprotein-serine/threonine kinase AKT2. (PubMed id 10490823)1, 2, 3, 9 Mitsuuchi Y....Testa J.R. (Oncogene 1999)
    2. APPL1, APPL2, Akt2 and FOXO1a interact with FSHR in a potential signaling complex. (PubMed id 17030088)1, 3, 9 Nechamen C.A....Dias J.A. (Mol. Cell. Endocrinol. 2007)
    3. Genetic variation within the APPL locus is not associated with metabolic or inflammatory traits in a healthy White population. (PubMed id 17490420)1, 4, 9 Staiger H....HAoring H.U. (Diabet. Med. 2007)
    4. APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment. (PubMed id 15016378)1, 2, 9 Miaczynska M.... Zerial M. (Cell 2004)
    5. [Association of variants in APPL1 gene with body fat and its distribution in Chinese patients with type 2 diabetic mellitus]. (PubMed id 18581887)1, 4 Fang Q.C....Xiang K.S. (Zhonghua Yi Xue Za Zhi 2008)
    6. 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)
    7. Mediation of the DCC apoptotic signal by DIP13 alpha. (PubMed id 12011067)1, 2 Liu J....Chen Y.Q. (J. Biol. Chem. 2002)
    8. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    9. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    10. APPL suppresses androgen receptor transactivation via potentiating Akt activity. (PubMed id 12621049)1, 9 Yang L....Chang C. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 26060 HGNC: 24035 AceView: APPL Ensembl:ENSG00000157500 euGenes: HUgn26060
    ECgene: APPL1 Kegg: 26060 H-InvDB: APPL1

    (According to HUGE)
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    HUGE: KIAA1428

    (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 APPL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for APPL1 gene:
    Search GeneIP for patents involving APPL1

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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