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    DLG1 discs, large homolog 1 (Drosophila) [ Homo sapiens ]

    Gene ID: 1739, updated on 19-May-2012

    Summary

    Official Symbol
    DLG1provided by HGNC
    Official Full Name
    discs, large homolog 1 (Drosophila)provided by HGNC
    Primary source
    HGNC:2900
    See related
    Ensembl:ENSG00000075711; HPRD:03007; MIM:601014; Vega:OTTHUMG00000047972
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hdlg; DLGH1; SAP97; SAP-97; dJ1061C18.1.1; DKFZp761P0818; DKFZp781B0426
    Summary
    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]

    Genomic context

    Location :
    3q29
    Sequence :
    Chromosome: 3; NC_000003.11 (196769431..197025447, complement)
    See DLG1 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein SA pseudogene 30 Neighboring gene MFI2 antisense RNA 1 (non-protein coding) Neighboring gene antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 Neighboring gene uncharacterized LOC100507086 Neighboring gene microRNA 4797 Neighboring gene 3-hydroxybutyrate dehydrogenase, type 1 Neighboring gene ribosomal protein L36 pseudogene 7

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_004078.1 NP_003174.2 ADAM17    BIND  PubMed PDZ domain of SAP97 interacts with C-terminal tail of TACE. 
    NP_004078.1 NP_001674.1 ATP2B2    BIND  PubMed PMCA2b interacts with SAP97. 
    NP_004078.1 NP_001675.3 ATP2B4    BIND  PubMed PMCA4b interacts with SAP97. This interaction was modeled on a demonstrated interaction between human PMCA4b and rat SAP97. 
    NP_004078.1 NP_003679.1 CASK    BIND  PubMed CASK interacts with DLG1 (SAP97). 
    NP_004078.1 BAA23257.1 DLGAP1    BIND  PubMed hDLG interacts with DAP-1beta. 
    NP_004078.1 NP_004737.2 DLGAP1    BIND  PubMed DLGAP1 (GKAP) interacts with DLG1 (SAP97). 
    NP_004078.1 NP_004737.2 DLGAP1    BIND  PubMed hDLG interacts with DAP-1alpha. 
    NP_004078.1 BAA23256.1 DLGAP2    BIND  PubMed hDLG interacts with DAP-2. 
    NP_004078.1 NP_040310.1 E6    BIND  PubMed Human DLG1 (DLG) interacts with E6 from Human papillomavirus type 18. 
    NP_004078.1 NP_076425.1 MRPS34    BIND  PubMed DLG1 (hDLG) interacts with MRPS34 (MRP-S34). 
    NP_004078.1 NP_060962.2 PBK    BIND  PubMed PBK interacts with DLG1 (SAP97). This interaction was modelled on a demonstrated interaction between PBK from an unspecified species and human DLG1 (SAP97). 
    NP_004078.1 NP_057864.1 tax    BIND  PubMed Human DLG1 (DLG) interacts with Human T cell leukemia virus type-1 Tax. 
    Q12959 P68133 ACTA1    HPRD  PubMed  
    Q12959 P35609 ACTN2    HPRD  PubMed  
    Q12959 P78536 ADAM17    HPRD  PubMed  
    Q12959 P08588 ADRB1    HPRD  PubMed  
    Q12959 P24588 AKAP5    HPRD  PubMed  
    Q12959 Q01814 ATP2B2    HPRD  PubMed  
    Q12959 P23634 ATP2B4    HPRD  PubMed  
    Q12959 P11274 BCR    HPRD  PubMed  
    Q12959 Brain enriched guanylate kinase associated protein BEGAIN    HPRD  PubMed  
    Q12959 Q9Y698 CACNG2    HPRD  PubMed  
    Q12959 P62158 CALM3    HPRD  PubMed  
    Q12959 Q9UQM7 CAMK2A    HPRD  PubMed  
    Q12959 O14936 CASK    HPRD  PubMed  
    Q12959 Q8WXI2 CNKSR2    HPRD  PubMed  
    Q12959 Postsynaptic protein CRIPT CRIPT    HPRD  PubMed  
    Q12959 P35221 CTNNA1    HPRD  PubMed  
    Q12959 Q12959 DLG1    HPRD  PubMed  
    Q12959 Q15700 DLG2    HPRD  PubMed  
    Q12959 Q92796 DLG3    HPRD  PubMed  
    Q12959 O14490 DLGAP1    HPRD  PubMed  
    Q12959 O95886 DLGAP3    HPRD  PubMed  
    Q12959 Q9Y2H0 DLGAP4    HPRD  PubMed  
    Q12959 P11171 EPB41    HPRD  PubMed  
    Q12959 Q15303 ERBB4    HPRD  PubMed  
    Q12959 P15311 EZR    HPRD  PubMed  
    Q12959 Q9ULV1 FZD4    HPRD  PubMed  
    Q12959 O75084 FZD7    HPRD  PubMed  
    Q12959 Q9Y2T3 GDA    HPRD  PubMed  
    Q12959 Q9UI32 GLS2    HPRD  PubMed  
    Q12959 Q9P2W3 GNG13    HPRD  PubMed  
    Q12959 Q8IWK6 GPR125    HPRD  PubMed  
    Q12959 P42261 GRIA1    HPRD  PubMed  
    Q12959 Q13002 GRIK2    HPRD  PubMed  
    Q12959 Q12879 GRIN2A    HPRD  PubMed  
    Q12959 Q13224 GRIN2B    HPRD  PubMed  
    Q12959 P33402 GUCY1A2    HPRD  PubMed  
    Q12959 Q09470 KCNA1    HPRD  PubMed  
    Q12959 P16389 KCNA2    HPRD  PubMed  
    Q12959 P22001 KCNA3    HPRD  PubMed  
    Q12959 P22459 KCNA4    HPRD  PubMed  
    Q12959 P22460 KCNA5    HPRD  PubMed  
    Q12959 Q14722 KCNAB1    HPRD  PubMed  
    Q12959 P78508 KCNJ10    HPRD  PubMed  
    Q12959 Q14500 KCNJ12    HPRD  PubMed  
    Q12959 P63252 KCNJ2    HPRD  PubMed  
    Q12959 P48050 KCNJ4    HPRD  PubMed  
    Q12959 P48051 KCNJ6    HPRD  PubMed  
    Q12959 Q9NQT8 KIF13B    HPRD  PubMed  
    Q12959 O60333 KIF1B    HPRD  PubMed  
    Q12959 P06239 LCK    HPRD  PubMed  
    Q12959 P98164 LRP2    HPRD  PubMed  
    Q12959 Q9BTT6 LRRC1    HPRD  PubMed  
    Q12959 P78559 MAP1A    HPRD  PubMed  
    Q12959 P53778 MAPK12    HPRD  PubMed  
    Q12959 Q14168 MPP2    HPRD  PubMed  
    Q12959 P82930 MRPS34    HPRD  PubMed  
    Q12959 Q9UM54 MYO6    HPRD  PubMed  
    Q12959 O60260 PARK2    HPRD  PubMed  
    Q12959 P26367 PAX6    HPRD  PubMed  
    Q12959 Q96KB5 PBK    HPRD  PubMed  
    Q12959 P60484 PTEN    HPRD  PubMed  
    Q12959 P35499 SCN4A    HPRD  PubMed  
    Q12959 Q14524 SCN5A    HPRD  PubMed  
    Q12959 Q9C0C4 SEMA4C    HPRD  PubMed  
    Q12959 Q12846 STX4    HPRD  PubMed  
    Q12959 TANC TANC1    HPRD  PubMed  
    Q12959 Q5JTD0 TJAP1    HPRD  PubMed  
    Q12959 P42768 WAS    HPRD  PubMed  
    Q12959 P56704 WNT3A    HPRD  PubMed  
    BioGRID:108083 BioGRID:106603 ACTN2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:112731 ADAM17    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108083 BioGRID:127557 AMOT    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108083 BioGRID:106817 APBA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:106981 ATP2B2    BioGRID  PubMed Two-hybrid 
    BioGRID:108083 BioGRID:106983 ATP2B4    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108083 BioGRID:114457 BTRC    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108083 BioGRID:115648 CACNG2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:107265 CAMK2A    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:108083 BioGRID:114141 CASK    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108083 BioGRID:114812 CRIPT    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108083 BioGRID:107876 CTNNA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:108086 DLG4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:114660 DLGAP1    BioGRID  PubMed Affinity Capture-Western; Far Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108083 BioGRID:108349 EPB41    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108083 BioGRID:108378 ERBB4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:113271 EZR    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108083 BioGRID:117450 GPR124    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108083 BioGRID:109147 GRIA1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108083 BioGRID:109155 GRIK2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:109160 GRIN2A    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108083 BioGRID:109161 GRIN2B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:109232 GUCY1A2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:109941 KCNA3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:109942 KCNA4    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108083 BioGRID:109943 KCNA5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:109970 KCNJ12    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108083 BioGRID:109961 KCNJ2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108083 BioGRID:109963 KCNJ4    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108083 BioGRID:109965 KCNJ6    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108083 BioGRID:116895 KIF13B    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108083 BioGRID:110124 LCK    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108083 BioGRID:114352 LIN7A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:120608 LIN7C    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:120522 LRRC1    BioGRID  PubMed Two-hybrid 
    BioGRID:108083 BioGRID:119413 MARCH2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108083 BioGRID:115565 NET1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108083 BioGRID:125043 TJAP1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108083 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108083 BioGRID:113185 UBE3A    BioGRID  PubMed Reconstituted Complex 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Activation of Ca-permeable Kainate Receptor, organism-specific biosystem (from REACTOME)
      Activation of Ca-permeable Kainate Receptor, organism-specific biosystemKainate receptors that are assembled with subunits GRIK1-5, are Ca2+ permeable if GRIK1 and GRIK2 are not edited at the Q/R or other sites.These channels permit Ca2+ upon activation by glutamate or o...
    • Activation of Kainate Receptors upon glutamate binding, organism-specific biosystem (from REACTOME)
      Activation of Kainate Receptors upon glutamate binding, organism-specific biosystemKainate receptors are found both in the presynaptc terminals and the postsynaptic neurons. Kainate receptor activation could lead to either ionotropic activity (influx of Ca2+ or Na+ and K+) in the ...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • CDC42 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      CDC42 signaling events, organism-specific biosystem
      CDC42 signaling events
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • E-cadherin signaling in the nascent adherens junction, organism-specific biosystem (from Pathway Interaction Database)
      E-cadherin signaling in the nascent adherens junction, organism-specific biosystem
      E-cadherin signaling in the nascent adherens junction
    • Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity, organism-specific biosystem (from REACTOME)
      Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity, organism-specific biosystemExcitatory synaptic transmission in the brain is carried out by glutamate receptors through the activation of both ionotropic and metabotropic receptors. Ionotropic glutamate receptors are of three ...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Ionotropic activity of Kainate Receptors, organism-specific biosystem (from REACTOME)
      Ionotropic activity of Kainate Receptors, organism-specific biosystemKainate receptors are either Ca2+ permeable or impermeable depending on the composition of the receptor and the editing status of subunits GluR5 and GluR6 (GRIK1 and 2).
    • L1CAM interactions, organism-specific biosystem (from REACTOME)
      L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
      Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
    • NrCAM interactions, organism-specific biosystem (from REACTOME)
      NrCAM interactions, organism-specific biosystemThe NgCAM-related cell adhesion molecule (NrCAM) is member of the L1 family involved in the eye development and node of Ranvier. Like all the other members of L1 family NrCAM also has the ability to...
    • T Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      T Cell Receptor Signaling Pathway, organism-specific biosystem
      T Cell Receptor Signaling Pathway
    • T cell receptor signaling pathway, organism-specific biosystem (from KEGG)
      T cell receptor signaling pathway, organism-specific biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...
    • T cell receptor signaling pathway, conserved biosystem (from KEGG)
      T cell receptor signaling pathway, conserved biosystemActivation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. En...
    • Trafficking of AMPA receptors, organism-specific biosystem (from REACTOME)
      Trafficking of AMPA receptors, organism-specific biosystemRepetitive presynaptic activity causes long lasting changes in the postsynaptic transmission by changing the type and the number of AMPA receptors. These changes are brought about by trafficking mec...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    • Wnt Signaling Pathway NetPath, organism-specific biosystem (from WikiPathways)
      Wnt Signaling Pathway NetPath, organism-specific biosystemWnt family of proteins are a large family of cysteine-rich secreted glycoproteins that regulate cell-cell interactions. They bind to members of the Frizzled family of 7 transmembrane receptors. Bindi...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L27 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cytoskeletal protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    guanylate kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    phosphoprotein phosphatase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    potassium channel regulator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin filament organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon guidance TAS
    Traceable Author Statement
    more info
     
    cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cortical actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    establishment or maintenance of cell polarity TAS
    Traceable Author Statement
    more info
    PubMed 
    interspecies interaction between organisms IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic cell cycle G1/S transition checkpoint NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    tight junction assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    MPP7-DLG1-LIN7 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    immunological synapse TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IEA
    Inferred from Electronic Annotation
    more info
     
    tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    disks large homolog 1
    Names
    disks large homolog 1
    presynaptic protein SAP97
    synapse-associated protein 97

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029099.1 RefSeqGene

      Range
      5001..261017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001098424.1NP_001091894.1  disks large homolog 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC068302, AC092937, U13897
      Consensus CDS
      CCDS43194.1
      UniProtKB/Swiss-Prot
      Q12959
      Related
      ENSP00000391732, OTTHUMP00000165202, ENST00000448528, OTTHUMT00000258169
      Conserved Domains (7) summary
      cd00992
      Location:224308
      Blast Score: 186
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd00174
      Location:585643
      Blast Score: 122
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      cd00071
      Location:716832
      Blast Score: 277
      GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
      cl02672
      Location:264
      Blast Score: 305
      L27; L27 domain
      pfam00625
      Location:713891
      Blast Score: 596
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:404465
      Blast Score: 276
      PDZ_assoc; PDZ-associated domain of NMDA receptors
      pfam10608
      Location:107128
      Blast Score: 109
      MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
    2. NM_001204386.1NP_001191315.1  disks large homolog 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is missing an in-frame coding exon, and contains an alternate in-frame coding exon compared to variant 1. This results in a shorter isoform (3) compared to isoform 1.
      Source sequence(s)
      AA837080, AC068302, AI223994, AK293967, BC042118, BC144651, BM728664, EF553524, U13897
      UniProtKB/TrEMBL
      B4DF78
      UniProtKB/Swiss-Prot
      Q12959
      Related
      ENSP00000350303, ENST00000357674
      Conserved Domains (7) summary
      cd00992
      Location:191275
      Blast Score: 188
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd00174
      Location:552610
      Blast Score: 122
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      cd00071
      Location:704820
      Blast Score: 277
      GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
      cl02672
      Location:264
      Blast Score: 303
      L27; L27 domain
      pfam00625
      Location:701879
      Blast Score: 594
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:371432
      Blast Score: 278
      PDZ_assoc; PDZ-associated domain of NMDA receptors
      pfam10608
      Location:107128
      Blast Score: 109
      MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
    3. NM_001204387.1NP_001191316.1  disks large homolog 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon, missing an in-frame coding exon, and contains an additional in-frame coding exon compared to variant 1. This results in a shorter isoform (4) with an unique N-terminus compared to isoform 1.
      Source sequence(s)
      AA837080, AC068302, AI223994, AK293967, AK294772, AK294855, BC042118, BM728664, EF553524
      Consensus CDS
      CCDS56301.1
      UniProtKB/TrEMBL
      B4DF78
      UniProtKB/TrEMBL
      B4DGU1
      UniProtKB/TrEMBL
      B4DGZ8
      UniProtKB/TrEMBL
      E7EWL7
      UniProtKB/Swiss-Prot
      Q12959
      Related
      ENSP00000396658, OTTHUMP00000208072, ENST00000443183, OTTHUMT00000340311
      Conserved Domains (5) summary
      cd00992
      Location:108192
      Blast Score: 187
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd00174
      Location:469527
      Blast Score: 122
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      cd00071
      Location:612728
      Blast Score: 279
      GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
      pfam00625
      Location:609787
      Blast Score: 604
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:288349
      Blast Score: 283
      PDZ_assoc; PDZ-associated domain of NMDA receptors
    4. NM_001204388.1NP_001191317.1  disks large homolog 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon and is missing an in-frame coding exon compared to variant 1. This results in a shorter isoform (5) with an unique N-terminus compared to isoform 1.
      Source sequence(s)
      AA837080, AC068302, AI223994, AK294855, BC042118, BC144651, BM728664, EF553524
      Consensus CDS
      CCDS56300.1
      UniProtKB/TrEMBL
      B4DGZ8
      UniProtKB/TrEMBL
      E9PG21
      UniProtKB/Swiss-Prot
      Q12959
      Related
      ENSP00000398939, OTTHUMP00000165212, ENST00000452595, OTTHUMT00000258188
      Conserved Domains (5) summary
      cd00992
      Location:108192
      Blast Score: 188
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd00174
      Location:469527
      Blast Score: 122
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      cd00071
      Location:600716
      Blast Score: 279
      GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
      pfam00625
      Location:597775
      Blast Score: 603
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:288349
      Blast Score: 283
      PDZ_assoc; PDZ-associated domain of NMDA receptors
    5. NM_004087.2NP_004078.2  disks large homolog 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame coding exon compared to variant 1, resulting in a longer isoform (2) compared to isoform 1.
      Source sequence(s)
      AC068302, AC092937, U13896
      Consensus CDS
      CCDS3327.1
      UniProtKB/Swiss-Prot
      Q12959
      Related
      ENSP00000345731, OTTHUMP00000151188, ENST00000346964, OTTHUMT00000242864
      Conserved Domains (7) summary
      cd00992
      Location:224308
      Blast Score: 188
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd00174
      Location:585643
      Blast Score: 123
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      cd00071
      Location:738854
      Blast Score: 277
      GMPK; Guanosine monophosphate kinase (GMPK, EC 2.7.4.8), also known as guanylate kinase (GKase), catalyzes the reversible phosphoryl transfer from adenosine triphosphate (ATP) to guanosine monophosphate (GMP) to yield adenosine diphosphate (ADP) and guanosine ...
      cl02672
      Location:264
      Blast Score: 302
      L27; L27 domain
      pfam00625
      Location:735913
      Blast Score: 595
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:404465
      Blast Score: 277
      PDZ_assoc; PDZ-associated domain of NMDA receptors
      pfam10608
      Location:107128
      Blast Score: 108
      MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      196769431..197025447, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      194068872..194324699, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC068302.18 (53967..141593) None
    genomic AC092937.8 (2005..170394) None
    genomic AL121981.17 None
    genomic CH471191.2 EAW53610.1
      EAW53611.1
      EAW53612.1
      EAW53613.1
      EAW53614.1
    mRNA AA837080.1 None
    mRNA AI223994.1 None
    mRNA AK293967.1 BAG57339.1
    mRNA AK294772.1 BAG57902.1
    mRNA AK294855.1 BAG57959.1
    mRNA AK304280.1 BAG65140.1
    mRNA AK310596.1 None
    mRNA AK310893.1 None
    mRNA AK311129.1 None
    mRNA AL831922.1 CAD38582.2
    mRNA BC015560.2 AAH15560.1
    mRNA BC028486.1 None
    mRNA BC042118.1 None
    mRNA BC140841.1 AAI40842.1
    mRNA BC144651.1 AAI44652.1
    mRNA BM728664.1 None
    mRNA EF553524.1 ABQ66269.1
    mRNA U13896.1 AAA50598.1
    mRNA U13897.1 AAA50599.1
    mRNA AB209536.2 BAD92773.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12959.2 GenPept UniProtKB/Swiss-Prot:Q12959
    Q59FC4 GenPept UniProtKB/TrEMBL:Q59FC4
    Q6PJH1 GenPept UniProtKB/TrEMBL:Q6PJH1
    Q8N3T5 GenPept UniProtKB/TrEMBL:Q8N3T5

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