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DLG1 Gene

protein-coding   GIFtS: 68
GCID: GC03M196769

Discs, Large Homolog 1 (Drosophila)

(Previous names: discs, large (Drosophila) homolog 1)
  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
Discs, Large Homolog 1 (Drosophila)1 2     Discs, Large (Drosophila) Homolog 11
Synapse-Associated Protein 971 2 3     DLGH12
Presynaptic Protein SAP971 2     dJ1061C18.1.12
SAP-972 3     Disks Large Homolog 12
SAP972 3     hdlg2
Discs Large Homolog 11     hDlg3

External Ids:    HGNC: 29001   Entrez Gene: 17392   Ensembl: ENSG000000757117   OMIM: 6010145   UniProtKB: Q129593   

Export aliases for DLG1 gene to outside databases

Previous GC identifers: GC03M192736 GC03M197118 GC03M198177 GC03M198097 GC03M198259 GC03M194068


(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 DLG1 Gene:
This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may
have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte
activation. Several alternatively spliced transcript variants encoding different isoforms have been described for
this gene, but the full-length nature of some of the variants is not known. (provided by RefSeq, Feb 2011)

GeneCards Summary for DLG1 Gene:
DLG1 (discs, large homolog 1 (Drosophila)) is a protein-coding gene. Diseases associated with DLG1 include 3q29 microdeletion syndrome, and mayer-rokitansky-kuster-hauser syndrome. GO annotations related to this gene include ion channel binding and protein kinase binding. An important paralog of this gene is MPP7.

UniProtKB/Swiss-Prot: DLG1_HUMAN, Q12959
Function: Essential multidomain scaffolding protein required for normal development (By similarity). Recruits
channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a
role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte
activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4
channels. Functional regulator of Kv1.5 channel

Gene Wiki entry for DLG1 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  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DLG1 gene promoter:
         Tal-1beta   E47   NF-AT   NF-AT4   NF-AT2   Hand1   NF-AT3   ITF-2   NF-kappaB1   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): DLG1 promoter sequence
   Search Chromatin IP Primers for DLG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DLG1


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

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

DLG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DLG1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M196769:  view genomic region     (about GC identifiers)

Start:
196,769,431 bp from pter      End:
197,026,171 bp from pter
Size:
256,741 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, 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: DLG1_HUMAN, Q12959 (See protein sequence)
Recommended Name: Disks large homolog 1  
Size: 904 amino acids; 100455 Da
Subunit: Homotetramer (Probable). Interacts through its guanylate kinase-like domain with DLGAP1, DLGAP2, DLGAP3,
DLGAP4 and MAP1A. May interact with HTR2A (By similarity). Interacts with LRFN1 (By similarity). Interacts
through its PDZ domains with GRIN2A, KCNA1, KCNA2, KCNA3, KCNA4, KCNA5, KCND2, KCND3, GRIA1, GPR124 and GPR125.
Interacts with KCNF1. Interacts with CAMK2 (By similarity). Interacts with cytoskeleton-associated proteins EPB41
and EZR. Found in a complex with KCNA5 and CAV3. Found in a complex with APC and CTNNB1. Interacts with CDH1
through binding to PIK3R1. Forms multiprotein complexes with CASK, LIN7A, LIN7B, LIN7C, APBA1, and KCNJ12.
Interacts through its guanylate kinase-like domain with KIF13B. Forms a tripartite complex composed of DLG1, MPP7
and LIN7 (LIN7A or LIN7C). May interact with TJAP1. Interacts with TOPK and the HTLV-1 viral Tax and HPV-18 E6
papillomavirus (HPV) oncoproteins. Interacts with PTEN (By similarity). Interacts with FRMPD4 (via C-terminus).
Interacts with LRFN1, LRFN2, LRFN4 and SFPQ
Selected PDB 3D structures from and Proteopedia for DLG1 (see all 10):
1PDR (3D)        2M3M (3D)        2OQS (3D)        2X7Z (3D)        3LRA (3D)        3RL7 (3D)    
Secondary accessions: A5YKK7 B4DGU1 B4DGZ8 B7ZMM0 B9EIQ5 D3DXB8 D3DXB9 E7EWL7 E9PG21 Q12958
Alternative splicing: 9 isoforms:  Q12959-1   Q12959-2   Q12959-3   Q12959-4   Q12959-5   Q12959-6   Q12959-7   Q12959-8   
Q12959-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DLG1: NX_Q12959

Explore proteomics data for DLG1 at MOPED

Post-translational modifications: 

  • Phosphorylated by MAPK12. Phosphorylation of Ser-232 regulates association with GRIN2A. Isoform 2 is
    phosphorylated on Ser-698. Isoform 3 is phosphorylated on Ser-665 (By similarity)1
  • Ubiquitination2 at Lys401
  • Modification sites at PhosphoSitePlus

  • See DLG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001091894.1  NP_001191315.1  NP_001191316.1  NP_001191317.1  NP_001277912.1  NP_004078.2  

    ENSEMBL proteins: 
     ENSP00000345731   ENSP00000407531   ENSP00000398939   ENSP00000413238   ENSP00000391732  
     ENSP00000396658   ENSP00000411278   ENSP00000376187   ENSP00000396768   ENSP00000376186  
     ENSP00000398702   ENSP00000412579   ENSP00000396474   ENSP00000376185   ENSP00000414189  
     ENSP00000393771   ENSP00000390403   ENSP00000400169   ENSP00000350303   ENSP00000321087  
    Reactome Protein details: Q12959

    DLG1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for DLG1
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    Novus Biologicals DLG1 Protein
    Novus Biologicals DLG1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DLG1

    DLG1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DLG1
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    Abcam antibodies for DLG1
    Cloud-Clone Corp. Antibodies for DLG1
    ThermoFisher Antibodies for DLG1
    LSBio Antibodies in human, mouse, rat for DLG1

    DLG1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DLG1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DLG1
    Cloud-Clone Corp. CLIAs for DLG1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 11):
     IPR008144 Guanylate_kin-like
     IPR008145 GK/Ca_channel_bsu
     IPR016313 DLG1
     IPR001452 SH3_domain
     IPR019583 PDZ_assoc

    Graphical View of Domain Structure for InterPro Entry Q12959

    ProtoNet protein and cluster: Q12959

    3 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB001478 PDZ/DHR/GLGF domain
    IPB008144 Guanylate kinase


    UniProtKB/Swiss-Prot: DLG1_HUMAN, Q12959
    Domain: The alternatively spliced domain I3 corresponding to amino acids (636-669) of isoform 4 is an EPB41
    binding site mediating association to membranes in polarized and non-polarized cells
    Domain: The PDZ domains may also mediate association to membranes by binding to EPB41 and GPR124 together with the
    L27 domain that binds CASK and DLG2
    Domain: The L27 domain may regulate DLG1 self-association. The N-terminal alternatively spliced region is capable
    of binding several SH3 domains and also moderates the level of protein oligomerization
    Similarity: Belongs to the MAGUK family
    Similarity: Contains 1 guanylate kinase-like domain
    Similarity: Contains 1 L27 domain
    Similarity: Contains 3 PDZ (DHR) domains
    Similarity: Contains 1 SH3 domain


    DLG1 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: DLG1_HUMAN, Q12959
    Function: Essential multidomain scaffolding protein required for normal development (By similarity). Recruits
    channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a
    role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte
    activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4
    channels. Functional regulator of Kv1.5 channel

         Genatlas biochemistry entry for DLG1:
    Drosophila tumor suppressor gene,discs large (Dlg) homolog 1,involved in coupling the cytoskeleton to the cell
    membrane

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004385guanylate kinase activity TAS7937897
    GO:0004721phosphoprotein phosphatase activity TAS15302935
    GO:0005515protein binding IPI10656683
    GO:0008022protein C-terminus binding IPI11274188
    GO:0008092cytoskeletal protein binding TAS8825652
         
    DLG1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DLG1:
     Increased HPV18 LCR reporter a  Increased cell death HMECs cel 

         Selected MGI mutant phenotypes (inferred from 9 alleles(MGI details for Dlg1) (see all 20):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     limbs/digits/tail  mortality/aging  muscle  nervous system  no phenotypic analysis 

    DLG1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DLG1: Dlg1tm1.1Rlh Dlg1tm1.2Agri Dlg1tm1Jhm Dlg1tm1Taki

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DLG1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DLG1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DLG1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DLG1

    miRNA
    Products:
        
    miRTarBase miRNAs that target DLG1:
    hsa-mir-21-5p (MIRT030999)

    Block miRNA regulation of human, mouse, rat DLG1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DLG1 (see all 25):
    hsa-miR-4265 hsa-miR-623 hsa-miR-34b* hsa-miR-3673 hsa-miR-495 hsa-miR-555 hsa-miR-3133 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidDLG1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DLG1
    Predesigned siRNA for gene silencing in human, mouse, rat DLG1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DLG1

    Clone
    Products:
         
    OriGene clones in human, mouse for DLG1 (see all 12)
    OriGene ORF clones in mouse, rat for DLG1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): DLG1 (NM_004087)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLG1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLG1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DLG1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLG1


    (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
    DLG1_HUMAN, Q12959: Membrane; Peripheral membrane protein (By similarity). Basolateral cell membrane (By
    similarity). Endoplasmic reticulum membrane (By similarity). Cell junction, synapse, postsynaptic cell membrane,
    postsynaptic density (By similarity). Cell junction, synapse. Cell membrane, sarcolemma. Note=Colocalizes with
    EPB41 at regions of intercellular contacts. Basolateral in epithelial cells. May also associate with endoplasmic
    reticulum membranes. Mainly found in neurons soma, moderately found at postsynaptic densities (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane5
    cytosol4
    nucleus4

    Gene Ontology (GO): Selected cellular component terms (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001772immunological synapse TAS19841189
    GO:0005634nucleus IDA17237226
    GO:0005737cytoplasm IDA17237226
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane IEA--

    DLG1 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 DLG1 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    NrCAM interactions0.00
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    3ADP signalling through P2Y purinoceptor 12
    Activation of Kainate Receptors upon glutamate binding0.68
    Ionotropic activity of Kainate Receptors0.00
    Activation of Ca-permeable Kainate Receptor0.35
    4Trafficking of AMPA receptors
    Trafficking of AMPA receptors1.00
    Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity1.00
    5B cell receptor signaling pathway (KEGG)
    T cell receptor signaling pathway0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for DLG1
        BDNF signaling pathway
    Wnt Signaling Pathway NetPath
    CDC42 signaling events
    E-cadherin signaling in the nascent adherens junction

    3 Reactome Pathways for DLG1
        Trafficking of AMPA receptors
    NrCAM interactions
    Activation of Ca-permeable Kainate Receptor


    4 Kegg Pathways  (Kegg details for DLG1):
        Hippo signaling pathway
    T cell receptor signaling pathway
    HTLV-I infection
    Viral carcinogenesis


    DLG1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DLG1
    Interactions:

        GeneGlobe Interaction Network for DLG1

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

    Selected Interacting proteins for DLG1 (Q129591, 2, 3 ENSP000003457314) via UniProtKB, MINT, STRING, and/or I2D (see all 207)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADAM17P785361, 2, 3, ENSP000003099684EBI-357481,EBI-78188 MINT-1901856 MINT-1901710 MINT-1901891 MINT-1901801 MINT-1901824 MINT-1901743 MINT-1901775 I2D: score=4 STRING: ENSP00000309968
    MAP2K2P365071, 2, 3, ENSP000002629484EBI-357481,EBI-1056930 MINT-8183078 MINT-8183016 MINT-8183060 MINT-8183037 MINT-8183089 MINT-8183138 MINT-8183103 MINT-8183069 MINT-8182991 MINT-8183118 I2D: score=1 STRING: ENSP00000262948
    E6O571251, 2EBI-357481,EBI-7363822 MINT-6733639 MINT-6733630 EBI-357481,EBI-1186926 MINT-69617 MINT-69616 MINT-73359 MINT-7211267 MINT-73337 MINT-74900 MINT-6628359 MINT-73338 MINT-73361 EBI-357481,EBI-1177242 MINT-73362 MINT-74956 MINT-73358 MINT-74903 MINT-73360 MINT-69615 EBI-357481,EBI-7461590 MINT-1895993 MINT-1896023
    Dlg4P310161, 2EBI-357500,EBI-375655 MINT-7212195 MINT-7212036 MINT-7212116 MINT-7212154 MINT-7212175 MINT-7212086 MINT-7212049 MINT-7212133 MINT-7212100
    ASAP1Q9ULH12, 3, ENSP000003502974MINT-7145813 I2D: score=1 STRING: ENSP00000350297
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 39):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001657ureteric bud development ----
    GO:0001658branching involved in ureteric bud morphogenesis IEA--
    GO:0001771immunological synapse formation IEA--
    GO:0001935endothelial cell proliferation IDA14699157
    GO:0002088lens development in camera-type eye IEA--

    DLG1 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 DLG1

    Selected Novoseek inferred chemical compound relationships for DLG1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 85.6 41 9523702 (3), 8938729 (2), 9286858 (2), 11723125 (1) (see all 29)
    nmda 53.5 13 15929985 (2), 16957582 (1), 18233995 (1), 17156128 (1) (see all 10)
    glutamate 52.3 19 18665322 (3), 15044483 (2), 10939335 (1), 15657400 (1) (see all 13)
    threonine 33.9 5 10779557 (1), 14699157 (1), 9326658 (1), 10646847 (1)
    valine 22.4 1 9326658 (1)
    kainate 19.7 4 11279111 (3), 18665322 (1)
    alanine 18.5 2 17069616 (1), 16466689 (1)
    phosphatidylinositol 17.5 1 17314165 (1)
    potassium 14.9 8 15277200 (2), 11709425 (1), 9341123 (1), 18004877 (1) (see all 6)
    leucine 8.47 1 9326658 (1)



    DLG1 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 DLG1 gene (6 alternative transcripts): 
    NM_001098424.1  NM_001204386.1  NM_001204387.1  NM_001204388.1  NM_001290983.1  NM_004087.2  

    Unigene Cluster for DLG1:

    Discs, large homolog 1 (Drosophila)
    Hs.292549  [show with all ESTs]
    Unigene Representative Sequence: NM_004087
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000346964(uc003fxo.4 uc003fxn.4 uc010ial.3) ENST00000469371
    ENST00000419354 ENST00000452595(uc010ian.2) ENST00000422288 ENST00000448528
    ENST00000443183 ENST00000450955 ENST00000392382 ENST00000475394 ENST00000470629
    ENST00000419227(uc011buf.1) ENST00000392381(uc003fxp.2) ENST00000471733(uc010iam.1)
    ENST00000493937 ENST00000447466 ENST00000477312 ENST00000453607
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DLG1 (see all 25):
    hsa-miR-4265 hsa-miR-623 hsa-miR-34b* hsa-miR-3673 hsa-miR-495 hsa-miR-555 hsa-miR-3133 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidDLG1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DLG1
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    GenScript: all cDNA clones in your preferred vector (see all 5): DLG1 (NM_004087)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLG1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DLG1
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      QuantiFast Probe-based Assays in human, mouse, rat DLG1

    Additional mRNA sequence: 

    AB209536.2 AK293967.1 AK294772.1 AK294855.1 AK310596.1 AK310893.1 AK311129.1 AL831922.1 
    BC015560.2 BC028486.1 BC037916.1 BC042118.1 BC140841.1 BC144651.1 EF553524.1 U13896.1 
    U13897.1 

    20 DOTS entries:

    DT.100770590  DT.455821  DT.86846298  DT.95376452  DT.100687155  DT.40251208  DT.120905530  DT.306676 
    DT.75134794  DT.100025509  DT.40216836  DT.92046140  DT.92434289  DT.40204665  DT.40293013  DT.65288186 
    DT.91862824  DT.91984033  DT.92051255  DT.92434290 

    Selected AceView cDNA sequences (see all 228):

    AA252116 AI815004 BM681931 AI864248 BX480920 AI144496 AA885039 BX645639 
    AA436612 AA287392 AA252522 BF445872 N41990 BF589352 NM_004087 AA825909 
    AI934918 BQ433661 BM728664 AW296142 N30267 BM477099 AI358233 BQ014300 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DLG1 (see all 12)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^
    SP1:                    -     -                             -     -     -     -                 -     -     -           -                                       
    SP2:                                                                                                              -                                             
    SP3:                                                                                                              -     -                                       
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for DLG1

    (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)
    About This Section

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    DLG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DLG1 Expression
    About this image


    DLG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    DLG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DLG1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.292549

    UniProtKB/Swiss-Prot: DLG1_HUMAN, Q12959
    Tissue specificity: Abundantly expressed in atrial myocardium (at protein level). Expressed in lung fibroblasts,
    cervical epithelial and B-cells (at protein level). Widely expressed, with isoforms displaying different
    expression profiles

        Custom PCR Arrays for DLG1
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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)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for DLG1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dlg11 , 5 discs, large homolog 1 (Drosophila)1, 5 90.39(n)1
    95.79(a)1
      16 (22.40 cM)5
    133831  NM_007862.31  NP_031888.21 
     316634435 
    chicken
    (Gallus gallus)
    Aves DLG11 discs, large homolog 1 (Drosophila) 85.1(n)
    93.84(a)
      424890  XM_004943316.1  XP_004943373.1 
    lizard
    (Anolis carolinensis)
    Reptilia DLG16
    discs, large homolog 1 (Drosophila)
    67(a)
    1 ↔ 1
    AAWZ02036894(21-17114)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.73682 Xenopus laevis transcribed sequence with moderate similarity more 81.81(n)    CA792773.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dlg12 discs, large (Drosophila) homolog 1 75.96(n)   114446  BC048066.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dlg11 , 3 establishment and/or maintenance of
    polarity of more3
    discs large 11
    60(a)3
    54.22(n)1
    56.78(a)1
      320831  NM_206683.41  NP_996406.11 
    worm
    (Caenorhabditis elegans)
    Secernentea dlg-13 guanylate kinase 45(a)   X(5514745-5519401)   --


    ENSEMBL Gene Tree for DLG1 (if available)
    TreeFam Gene Tree for DLG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DLG1 gene
    MPP72  DLG32  MPP62  MPP52  DLG22  MPP22  MPP42  DLG42  
    CASK2  MPP12  MPP32  
    13 SIMAP similar genes for DLG1 using alignment to 13 protein entries:     DLG1_HUMAN (see all proteins):
    DKFZp761P0818    DLG4    DLG2    DLG3    SYNJ2BP    TJP2
    LIN7C    GUK1    DKFZp666F1010    TAX1BP3    CASK    PDZD11
    DKFZp666D023

    DLG1 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)
    About This Section

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    Selected SNPs for DLG1 (see all 5489)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs114257821,2
    C--194069203(+) ATATAT/-TTTTT 5 -- ut311Minor allele frequency- -:0.00CSA 2
    rs666530701,2
    C--194069797(+) TGATT-/AAGG  
            
    AAGAT
    10 -- ut31 cds12Minor allele frequency- AAGG:0.25NA CSA 4
    rs1510409761,2
    C--194069797(+) TGATT-/AAGG  
            
    AAGAT
    5 -- ut310--------
    rs1998668671,2
    C--194069800(+) TTAAGA/GAAGAT 5 -- ut310--------
    rs798430031,2
    C--194071531(+) TGAGAG/TATACC 5 -- int10--------
    rs2019917341,2
    --194071531(+) TGAGA-/GATACC 5 -- int10--------
    rs58555601,2
    C,F--194073271(+) CTCTTA/-AAAAA 5 -- int13Minor allele frequency- -:0.33NA CSA 6
    rs716322121,2
    C--194080582(+) CTGCCTT/-TTCTC 5 -- int11Minor allele frequency- -:0.50NA 2
    rs352503221,2
    C--194084678(+) ACTCT-/ATACTTG 5 -- int10--------
    rs344905151,2
    C--194087847(+) CAGTC-/TTTTGT 5 -- int12Minor allele frequency- T:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for DLG1 (196769431 - 197019431 bp, first 250kb of DLG1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DLG1 (see all 29):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676138CNV Deletion23128226
    esv2726621CNV Deletion23290073
    esv2425210CNV Deletion19546169
    dgv911e199CNV Deletion23128226
    esv2580756CNV Deletion19546169
    nsv821583CNV Deletion20802225
    esv2726620CNV Deletion23290073
    nsv822423CNV Loss20364138
    nsv461132CNV Loss19166990
    dgv5376n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): DLG1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DLG1
    DNA2.0 Custom Variant and Variant Library Synthesis for DLG1

    (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.)
    About This Section

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    OMIM gene information: 601014    OMIM disorders: --

    Selected diseases for DLG1 (see all 27):    
    About MalaCards
    3q29 microdeletion syndrome    mayer-rokitansky-kuster-hauser syndrome    poliomyelitis    avian influenza
    familial adenomatous polyposis    cervical intraepithelial neoplasia    fibrous histiocytoma    histiocytoma
    human t-cell leukemia virus type 1    cervicitis    cervical cancer    influenza
    schizophrenia    pulmonary function    t-cell leukemia    alzheimer's disease
    mental retardation    cerebritis    retinitis    tonsillitis

    1 disease from the University of Copenhagen DISEASES database for DLG1:
    Cervical cancer

    DLG1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for DLG1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial adenomatous polyposis 51.2 12 9483569 (2), 10788497 (2), 15021905 (1), 9286858 (1) (see all 6)
    tumors 30.6 50 15021905 (3), 10557085 (3), 15099956 (2), 11027293 (2) (see all 28)
    cervical cancer 23.9 1 19147762 (1)
    carcinoma squamous cell 0 2 15099956 (1)
    schizophrenia 0 6 18665322 (2), 15696539 (1)
    alzheimers disease 0 1 10588576 (1)
    cancer 0 2 9326658 (1), 20127000 (1)

    Genetic Association Database (GAD): DLG1
    Human Genome Epidemiology (HuGE) Navigator: DLG1 (7 documents)

    Export disorders for DLG1 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 DLG1 gene, integrated from 10 sources (see all 249):
    (articles sorted by number of sources associating them with DLG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of hdlg: the human homologue of the Drosophila discs large tumor suppressor binds to protein 4.1. (PubMed id 7937897)1, 2, 3 Lue R.A.... Chishti A.H. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    2. Kv4 potassium channels form a tripartite complex with the anchoring protein SAP97 and CaMKII in cardiac myocytes. (PubMed id 19213956)1, 2, 9 El-Haou S.... Hatem S.N. (Circ. Res. 2009)
    3. Direct binding of the human homologue of the Drosophila disc large tumor suppressor gene to seven-pass transmembrane proteins, tumor endothelial marker 5 (TEM5), and a novel TEM5-like protein. (PubMed id 15021905)1, 2, 9 Yamamoto Y.... Takai Y. (Oncogene 2004)
    4. Human homolog of disc-large is required for adherens junction assembly and differentiation of human intestinal epithelial cells. (PubMed id 14699157)1, 2, 9 Laprise P.... Rivard N. (J. Biol. Chem. 2004)
    5. Protein 4.1-mediated membrane targeting of human discs large in epithelial cells. (PubMed id 12807908)1, 2, 9 Hanada T.... Chishti A.H. (J. Biol. Chem. 2003)
    6. The distribution and function of alternatively spliced insertions in hDlg. (PubMed id 11723125)1, 2, 9 McLaughlin M.... Viel A. (J. Biol. Chem. 2002)
    7. An association analysis of synapse-associated protein 97 (SAP97) gene in schizophrenia. (PubMed id 18665322)1, 4, 9 Sato J....Nishikawa T. (J Neural Transm 2008)
    8. Characterization of PDZ-binding kinase, a mitotic kinase. (PubMed id 10779557)1, 2, 9 Gaudet S.... Lue R.A. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    9. Two independent domains of hDlg are sufficient for subcellular targeting: the PDZ1-2 conformational unit and an alternatively spliced domain. (PubMed id 8922391)1, 2, 9 Lue R.A.... Branton D. (J. Cell Biol. 1996)
    10. GAKIN, a novel kinesin-like protein associates with the human homologue of the Drosophila discs large tumor suppressor in T lymphocytes. (PubMed id 10859302)1, 2, 9 Hanada T.... Chishti A.H. (J. Biol. Chem. 2000)

    (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: 1739 HGNC: 2900 AceView: DLG1 Ensembl:ENSG00000075711 euGenes: HUgn1739
    ECgene: DLG1 Kegg: 1739 H-InvDB: DLG1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for DLG1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DLG1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DLG1 gene:
    Search GeneIP for patents involving DLG1

    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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