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DLGAP1 Gene

protein-coding   GIFtS: 63
GCID: GC18M003488

Discs, Large (Drosophila) Homolog-Associated Protein 1

(Previous names: discs, large (Drosophila) homolog-associated protein 1)
  See DLGAP1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section


Aliases
Discs, Large (Drosophila) Homolog-Associated Protein 11 2     DAP-1-ALPHA2
Guanylate Kinase-Associated Protein2 3     DAP-1-BETA2
DAP-12 3     Disks Large-Associated Protein 12
GKAP2 3     PSD-95/SAP90 Binding Protein 12
SAPAP12 3     DAP13
hGKAP2 3     PSD-95/SAP90-Binding Protein 13
SAP90/PSD-95-Associated Protein 12 3     

External Ids:    HGNC: 29051   Entrez Gene: 92292   Ensembl: ENSG000001705797   OMIM: 6054455   UniProtKB: O144903   

Export aliases for DLGAP1 gene to outside databases

Previous GC identifiers: GC18P003654 GC18M003484


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section


GeneCards Summary for DLGAP1 Gene:
DLGAP1 (discs, large (Drosophila) homolog-associated protein 1) is a protein-coding gene. Diseases associated with DLGAP1 include myopia-2. An important paralog of this gene is DLGAP4.

UniProtKB/Swiss-Prot: DLGP1_HUMAN, O14490
Function: Part of the postsynaptic scaffold in neuronal cells

Gene Wiki entry for DLGAP1 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)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010859.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DLGAP1 gene promoter:
         Max1   PPAR-gamma1   FOXF2   HTF   FOXO1a   ARP-1   PPAR-gamma2   LCR-F1   c-Myc   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DLGAP1 promoter sequence
   Search Chromatin IP Primers for DLGAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DLGAP1


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

Entrez Gene cytogenetic band: 18p11.31   Ensembl cytogenetic band:  18p11.31   HGNC cytogenetic band: 18p11.3

DLGAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DLGAP1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M003488:  view genomic region     (about GC identifiers)

Start:
3,496,030 bp from pter      End:
4,455,335 bp from pter
Size:
959,306 bases      Orientation:
minus 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., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or GeneTex.)
About This Section


UniProtKB/Swiss-Prot: DLGP1_HUMAN, O14490 (See protein sequence)
Recommended Name: Disks large-associated protein 1  
Size: 977 amino acids; 108873 Da
Subunit: Interacts with guanylate kinase-like domain of DLG1, DLG2, DLG3, DLG4 and AIP1. Interacts with the PDZ
domain of SHANK1, SHANK2 and SHANK3. Found in a complex with DLG4 and SHANK1, SHANK2 or SHANK3. Found in a
complex with DLG4 and BEGAIN. Interacts with DYL2 and LRFN1 (By similarity)
Secondary accessions: A8MWN8 B2RMU8 B7WPA1 B7Z2H2 B7Z2I2 B7Z9Y4 O14489 P78335
Alternative splicing: 7 isoforms:  O14490-1   O14490-2   O14490-3   O14490-4   O14490-5   O14490-6   O14490-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DLGAP1: NX_O14490

Explore proteomics data for DLGAP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DLGAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_001003809.1  NP_001229690.1  NP_001229691.1  NP_001229692.1  NP_001229693.1  NP_001229694.1  NP_001229695.1  NP_004737.2  

    ENSEMBL proteins: 
     ENSP00000383011   ENSP00000383013   ENSP00000383019   ENSP00000383014   ENSP00000316377  
     ENSP00000437817   ENSP00000446312   ENSP00000462848   ENSP00000383010   ENSP00000463864  
     ENSP00000462882   ENSP00000445973  

    DLGAP1 Human Recombinant Protein Products:

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    Novus Biologicals DLGAP1 Proteins
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DLGAP1

     
    Search eBioscience for Proteins for DLGAP1 

     
    antibodies-online proteins for DLGAP1 (2 products) 

     
    antibodies-online peptides for DLGAP1

     
    Search GeneTex for Proteins for DLGAP1 

    DLGAP1 Antibody Products:

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    antibodies-online antibodies for DLGAP1 (46 products) 

     
    GeneTex Antibodies for DLGAP1:  
                        DLGAP1 Antibodies

    DLGAP1 Assay Products:

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    Cloud-Clone Corp. ELISAs for DLGAP1
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    antibodies-online kits for DLGAP1 (6 products) 


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

    1 InterPro protein domain:
     IPR005026 GKAP

    Graphical View of Domain Structure for InterPro Entry O14490

    ProtoNet protein and cluster: O14490

    1 Blocks protein domain: IPB005026 Guanylate-kinase-associated protein

    UniProtKB/Swiss-Prot: DLGP1_HUMAN, O14490
    Similarity: Belongs to the SAPAP family


    Find genes that share domains with DLGAP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway, and/or Taconic Biosciences, CRISPR knockouts from OriGene, 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, Clones from OriGene, GenScript, Sino Biological, 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, Sets of similar genes according to GenesLikeMe)
    About This Section


    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DLGP1_HUMAN, O14490
    Function: Part of the postsynaptic scaffold in neuronal cells

         Genatlas biochemistry entry for DLGAP1:
    Drosophila disc large homolog-associated protein 1,binding the guanylate kinase-like domain of DLG4,major
    constituans of the postsynaptic density (PSD) at the synaptic junction

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17474147
         
    Find genes that share ontologies with DLGAP1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for DLGAP1:
     Decreased Tat-dependent transc  Decreased viability  Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DLGAP1

        Taconic Biosicences: Generate A Custom CRISPR Mouse Model For Your Study 

    CRISPR Knockouts: 
       OriGene CRISPR knockouts for DLGAP1

    miRNA
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    hsa-miR-323-3p hsa-miR-140-5p hsa-miR-607 hsa-miR-3146 hsa-miR-106a hsa-miR-4305 hsa-miR-374a hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidDLGAP1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section


    Subcellular locations from UniProtKB/Swiss-Prot
    DLGP1_HUMAN, O14490: Cell membrane; Peripheral membrane protein (By similarity). Cell junction, synapse,
    postsynaptic cell membrane, postsynaptic density (By similarity). Cell junction, synapse (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus3
    cytoskeleton2
    cytosol2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0014069postsynaptic density ----
    GO:0030054cell junction IEA--
    GO:0045202synapse ----
    GO:0045211postsynaptic membrane IEA--

    Find genes that share ontologies with DLGAP1           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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
    About This Section






    SuperPaths for DLGAP1 About    
    See pathways by source

          Powered
    by
         
    SuperPathContained pathways About
    1Circadian entrainment
    Glutamatergic synapse0.39


    Find genes that share SuperPaths with DLGAP1           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for DLGAP1):
        Glutamatergic synapse

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DLGAP1
    Interactions:

        GeneGlobe Interaction Network for DLGAP1

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

    Selected Interacting proteins for DLGAP1 (O144901, 2, 3 ENSP000003163774) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG4P783521, 2, 3EBI-1753207,EBI-80389 MINT-8305449 MINT-8305316 MINT-8305335 MINT-8305247 MINT-8305353 I2D: score=9 
    SHANK3Q9BYB02, 3MINT-7894188 I2D: score=2 
    SHANK1Q9Y5662, 3, ENSP000002934414MINT-7894188 I2D: score=6 STRING: ENSP00000293441
    GRB2P629931, 3, ENSP000003390074EBI-1753207,EBI-401755 I2D: score=4 STRING: ENSP00000339007
    NCK1P163331, 3, ENSP000002889864EBI-1753207,EBI-389883 I2D: score=2 STRING: ENSP00000288986
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007267cell-cell signaling ----
    GO:0007268synaptic transmission NAS9286858

    Find genes that share ontologies with DLGAP1           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, Sets of similar genes according to GenesLikeMe)
    About This Section

    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DLGAP1 (DLGP1)

    3 Novoseek inferred chemical compound relationships for DLGAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 77 27 15261830 (2), 9024696 (2), 12954649 (2), 10570927 (2) (see all 12)
    nmda 53.6 9 9454832 (3), 10570927 (2), 9024696 (1), 12950712 (1)
    glutamate 33.9 1 9454832 (1)



    Find genes that share compounds with DLGAP1           About GenesLikeMe



    (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, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section


    REFSEQ mRNAs for DLGAP1 gene (15 alternative transcripts): 
    NM_001003809.2  NM_001242761.1  NM_001242762.1  NM_001242763.1  NM_001242764.1  NM_001242765.1  NM_001242766.1  NM_004746.3  
    XM_005258171.1  XM_005258172.1  XM_005258173.1  XM_005258174.2  XM_005258175.1  XM_005258176.1  XM_006722367.1  

    Unigene Clusters for DLGAP1:

    Discs, large (Drosophila) homolog-associated protein 1
    Hs.594640  [show with all ESTs], Hs.654793  [show with all ESTs]
    Unigene Representative Sequences: NM_004746, BC040718
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000400147(uc010dkn.3 uc002kme.2) ENST00000400149(uc010wyy.2)
    ENST00000400155(uc010wyw.2) ENST00000400150(uc010wyx.2) ENST00000315677(uc002kmf.3)
    ENST00000534970 ENST00000539435 ENST00000581699 ENST00000400145(uc002kmg.3)
    ENST00000581527(uc010wyz.2) ENST00000485480 ENST00000498188(uc002kmk.2)
    ENST00000478161 ENST00000486430 ENST00000484845 ENST00000581550(uc002kmm.3)
    ENST00000582051 ENST00000578250
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DLGAP1 (see all 76):
    hsa-miR-323-3p hsa-miR-140-5p hsa-miR-607 hsa-miR-3146 hsa-miR-106a hsa-miR-4305 hsa-miR-374a hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidDLGAP1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: BC040718.1 

    12 DOTS entries:

    DT.110838  DT.40291104  DT.92020173  DT.121096113  DT.99983266  DT.97798191  DT.121096118  DT.121096295 
    DT.40131232  DT.91745857  DT.97786289  DT.91655245 

    Selected AceView cDNA sequences (see all 65):

    NM_004746 Z45015 BE884851 BM563284 AB000277 AW960629 AA323064 BU177052 
    AA335583 AA336116 AI923665 BC070175 AF086215 AL119005 BI489952 BX431639 
    AK095761 BX106553 BG753732 AI572697 CD107280 AI954656 CK299245 AI191965 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DLGAP1 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15
    SP1:              -     -           -                       -     -     -                                   -         
    SP2:                                -                       -     -     -                                   -         
    SP3:                                                        -     -                                                   
    SP4:              -     -           -                                                                                 
    SP5:                                                        -                                                         


    ECgene alternative splicing isoforms for DLGAP1

    (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 GenesLikeMe, 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)
    About This Section

    DLGAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAATAGAT
    DLGAP1 Expression
    About this image


    DLGAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Brain (Nervous System)
             Cerebral Cortex
    DLGAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DLGAP1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.594640 Hs.654793

    UniProtKB/Swiss-Prot: DLGP1_HUMAN, O14490
    Tissue specificity: Expressed in brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLGAP1

    (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 animals.

    Orthologs for DLGAP1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dlgap11 , 5 discs, large (Drosophila) homolog-associated protein more1, 5 90.16(n)1
    96.11(a)1
      17 (40.85 cM)5
    2249971  NM_177639.61  NP_808307.21 
     699690735 
    chicken
    (Gallus gallus)
    Aves LOC1008596931 disks large-associated protein 1-like 79.46(n)
    89.6(a)
      100859693  XM_003643335.2  XP_003643383.2 
    lizard
    (Anolis carolinensis)
    Reptilia DLGAP16
    discs, large (Drosophila) homolog-associated prote...
    86(a)
    1 ↔ 1
    4(42301821-42436448)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX715443.12   -- 80.91(n)    BX715443.1 
    zebrafish
    (Danio rerio)
    Actinopterygii otx52 orthodenticle homolog 5 79.66(n)   368663  BM026385.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta vlc6
    vulcan
    21(a)
    1 → many
    2R(1589605-1592944)


    ENSEMBL Gene Tree for DLGAP1 (if available)
    TreeFam Gene Tree for DLGAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for DLGAP1 gene
    DLGAP42  DLGAP22  DLGAP32  DLGAP52  
    3 SIMAP similar genes for DLGAP1 using alignment to 4 protein entries:     DLGP1_HUMAN (see all proteins):
    DLGAP2    DLGAP4    DLGAP3

    Find genes that share paralogs with DLGAP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and 4UniProtKB, 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)
    About This Section


    Selected SNPs for DLGAP1 (see all 18620)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1420545561,2
    --3495553(+) TCTTTC/TAATCA 6 -- int10--------
    rs1809813471,2
    --3495654(+) GATTTC/TCCCTA 6 -- int10--------
    rs1132563981,2
    C,F--3495695(+) ATGAAG/ATGTAT 6 -- int11Minor allele frequency- A:0.50CSA 2
    rs1849733611,2
    --3495808(+) CTTCAC/TGAGTG 6 -- int10--------
    rs739398291,2
    C,F--3495831(+) TAAAAG/AGACTT 6 -- int12Minor allele frequency- A:0.10WA 120
    rs739398301,2
    C--3495848(+) TCTTCG/TGTATT 6 -- int12Minor allele frequency- T:0.10WA 120
    rs113073851,2
    C--3495858(+) TGAAAC/-CCCTT 6 -- int11Minor allele frequency- -:0.00NA 2
    rs2017942301,2
    C--3495861(-) TTAAAA/GGGGTT 6 -- int10--------
    rs2016392241,2
    --3495862(+) ACCCC-/TTTAAA 6 -- int10--------
    rs1383575001,2
    --3495901(+) ACAACA/GAATAG 6 -- int10--------

    HapMap Linkage Disequilibrium report for DLGAP1 (3496030 - 3746030 bp, first 250kb of DLGAP1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DLGAP1 (see all 89):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667735CNV Deletion23128226
    esv2282661CNV Deletion18987734
    esv5302CNV Deletion18987735
    esv2665888CNV Deletion23128226
    esv2673616CNV Deletion23128226
    esv2421665CNV Deletion20811451
    esv2716700CNV Deletion23290073
    esv4964CNV Deletion18987735
    esv2716705CNV Deletion23290073
    esv2432132CNV Deletion19546169

    Human Gene Mutation Database (HGMD): DLGAP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DLGAP1

    (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, Sets of similar genes according to GenesLikeMe)
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    OMIM gene information: 605445    OMIM disorders: --

    1 disease for DLGAP1:    
    About MalaCards
    myopia-2

    1 inferred disease relationship from the University of Copenhagen DISEASES database for DLGAP1:
    Asperger syndrome

    Find genes that share disorders with DLGAP1           About GenesLikeMe

    1 Novoseek inferred disease relationship for DLGAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 3.36 5 12950712 (3), 12784099 (1)

    Genetic Association Database (GAD): DLGAP1
    Human Genome Epidemiology (HuGE) Navigator: DLGAP1 (6 documents)

    Export disorders for DLGAP1 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 DLGAP1 gene, integrated from 10 sources (see all 67):
    (articles sorted by number of sources associating them with DLGAP1)

    1. GKAP, a novel synaptic protein that interacts with the guanylate kinase-like domain of the PSD-95/SAP90 family of channel clustering molecules. (PubMed id 9024696)1, 2, 3, 9 Kim E....Sheng M. (J. Cell Biol. 1997)
    2. DAP-1, a novel protein that interacts with the guanylate kinase-like domains of hDLG and PSD-95. (PubMed id 9286858)1, 2, 3 Satoh K.... Akiyama T. (Genes Cells 1997)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. p38gamma regulates the localisation of SAP97 in the cytoskeleton by modulating its interaction with GKAP. (PubMed id 15729360)1, 9 Sabio G....Cuenda A. (EMBO J. 2005)
    7. Intramolecular interactions regulate SAP97 binding to GKAP. (PubMed id 11060025)1, 9 Wu H....Garner C.C. (EMBO J. 2000)
    8. BEGAIN (brain-enriched guanylate kinase-associated protein), a novel neuronal PSD-95/SAP90-binding protein. (PubMed id 9756850)1, 9 Deguchi M....Takai Y. (J. Biol. Chem. 1998)
    9. Crystal structure of the Shank PDZ-ligand complex reveals a class I PDZ interaction and a novel PDZ-PDZ dimerization. (PubMed id 12954649)1, 9 Im Y.J....Eom S.H. (J. Biol. Chem. 2003)
    10. The hDLG-associated protein DAP interacts with dynein light chain and neuronal nitric oxide synthase. (PubMed id 11122378)1, 9 Haraguchi K....Akiyama T. (amp 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9229 HGNC: 2905 AceView: DLGAP1 Ensembl:ENSG00000170579 euGenes: HUgn9229
    ECgene: DLGAP1 Kegg: 9229 H-InvDB: DLGAP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DLGAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DLGAP1 gene:
    Search GeneIP for patents involving DLGAP1

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



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