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    Dlg5 discs large MAGUK scaffold protein 5 [ Mus musculus (house mouse) ]

    Gene ID: 71228, updated on 9-Dec-2024

    Summary

    Official Symbol
    Dlg5provided by MGI
    Official Full Name
    discs large MAGUK scaffold protein 5provided by MGI
    Primary source
    MGI:MGI:1918478
    See related
    Ensembl:ENSMUSG00000021782 AllianceGenome:MGI:1918478
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA0583; 4933429D20Rik
    Summary
    Predicted to enable beta-catenin binding activity and cytoskeletal protein binding activity. Involved in several processes, including positive regulation of dendritic spine development; positive regulation of synapse assembly; and regulation of signal transduction. Acts upstream of or within several processes, including apical protein localization; epithelial cell differentiation; and protein localization to adherens junction. Located in adherens junction and ciliary basal body. Is active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system gland; lung; and nervous system. Orthologous to human DLG5 (discs large MAGUK scaffold protein 5). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in limb E14.5 (RPKM 14.4), genital fat pad adult (RPKM 13.1) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Dlg5 in Genome Data Viewer
    Location:
    14 A3; 14 14.26 cM
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (24184021..24295988, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (24133953..24245920, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_36177 Neighboring gene microRNA 7210 Neighboring gene predicted gene, 52142 Neighboring gene predicted gene, 52143 Neighboring gene STARR-seq mESC enhancer starr_36186 Neighboring gene VISTA enhancer mm1485 Neighboring gene STARR-seq mESC enhancer starr_36187 Neighboring gene RIKEN cDNA E330034G19 gene Neighboring gene polymerase (RNA) III (DNA directed) polypeptide A pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables beta-catenin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cytoskeletal protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within apical protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial to mesenchymal transition ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within epithelial tube branching involved in lung morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within establishment or maintenance of epithelial cell apical/basal polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within glial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in maintenance of cell polarity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in maintenance of cell polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within metanephric collecting duct development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within midbrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of T cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of T cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of hippo signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of hippo signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of hippo signaling ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuroepithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within polarized epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of dendritic spine development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of hippo signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of hippo signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of synapse assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in postsynapse organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in postsynapse organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to adherens junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein-containing complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within zonula adherens assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic density IEP
    Inferred from Expression Pattern
    more info
    PubMed 

    General protein information

    Preferred Names
    disks large homolog 5
    Names
    discs, large homolog 5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001163513.1NP_001156985.1  disks large homolog 5 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK147598, AK147699, BC067046
      Consensus CDS
      CCDS49417.1
      UniProtKB/Swiss-Prot
      E9Q9R9, Q3UGX5
      UniProtKB/TrEMBL
      Q3UH41
      Related
      ENSMUSP00000087879.5, ENSMUST00000090398.11
      Conserved Domains (8) summary
      cd11860
      Location:16001662
      SH3_DLG5; Src homology 3 domain of Disks Large homolog 5
      smart00072
      Location:17341910
      GuKc; Guanylate kinase homologues
      smart00228
      Location:13471429
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:722790
      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) ...
      pfam04822
      Location:129213
      Takusan; Takusan
      pfam14197
      Location:545585
      Cep57_CLD_2; Centrosome localization domain of PPC89
      pfam16610
      Location:14271502
      dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
      cl25732
      Location:141564
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_027726.1NP_082002.1  disks large homolog 5 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AK147598, AK147699, BC067046
      Consensus CDS
      CCDS49416.1
      UniProtKB/TrEMBL
      E9Q9I2, Q3UH41
      Related
      ENSMUSP00000073367.7, ENSMUST00000073687.13
      Conserved Domains (10) summary
      cd11860
      Location:15771639
      SH3_DLG5; Src homology 3 domain of Disks Large homolog 5
      smart00072
      Location:17111887
      GuKc; Guanylate kinase homologues
      smart00228
      Location:13241406
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      COG1340
      Location:272564
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00992
      Location:699767
      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) ...
      pfam00625
      Location:17171886
      Guanylate_kin; Guanylate kinase
      pfam04822
      Location:107189
      Takusan; Takusan
      pfam16610
      Location:14041479
      dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
      cl12013
      Location:394578
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl23733
      Location:287426
      FliJ; Flagellar FliJ protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      24184021..24295988 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006519560.3XP_006519623.1  disks large homolog 5 isoform X3

      UniProtKB/TrEMBL
      Q3UH41
      Conserved Domains (8) summary
      cd11860
      Location:16051667
      SH3_DLG5; Src homology 3 domain of Disks Large homolog 5
      smart00072
      Location:17391915
      GuKc; Guanylate kinase homologues
      smart00228
      Location:13521434
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      COG1196
      Location:141564
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00992
      Location:736795
      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) ...
      pfam04822
      Location:129213
      Takusan
      pfam14197
      Location:545585
      Cep57_CLD_2; Centrosome localization domain of PPC89
      pfam16610
      Location:14321507
      dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
    2. XM_017316199.2XP_017171688.1  disks large homolog 5 isoform X4

      UniProtKB/TrEMBL
      Q3UH41
      Conserved Domains (7) summary
      cd11860
      Location:16051667
      SH3_DLG5; Src homology 3 domain of Disks Large homolog 5
      smart00072
      Location:17391915
      GuKc; Guanylate kinase homologues
      smart00228
      Location:13521434
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      COG1196
      Location:141564
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00992
      Location:727795
      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) ...
      pfam04822
      Location:129213
      Takusan
      pfam16610
      Location:14321507
      dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
    3. XM_017316198.2XP_017171687.1  disks large homolog 5 isoform X2

      UniProtKB/TrEMBL
      Q3UH41
      Conserved Domains (7) summary
      cd11860
      Location:16091671
      SH3_DLG5; Src homology 3 domain of Disks Large homolog 5
      smart00072
      Location:17431919
      GuKc; Guanylate kinase homologues
      smart00228
      Location:13571439
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      COG1196
      Location:141564
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00992
      Location:741800
      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) ...
      pfam04822
      Location:129213
      Takusan
      pfam16610
      Location:14371511
      dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
    4. XM_017316197.2XP_017171686.1  disks large homolog 5 isoform X1

      UniProtKB/TrEMBL
      Q3UH41
      Conserved Domains (7) summary
      cd11860
      Location:16101672
      SH3_DLG5; Src homology 3 domain of Disks Large homolog 5
      smart00072
      Location:17441920
      GuKc; Guanylate kinase homologues
      smart00228
      Location:13571439
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      COG1196
      Location:141564
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00992
      Location:741800
      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) ...
      pfam04822
      Location:129213
      Takusan
      pfam16610
      Location:14371512
      dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
    5. XM_017316200.3XP_017171689.1  disks large homolog 5 isoform X5

      UniProtKB/TrEMBL
      Q3UH41
      Conserved Domains (7) summary
      cd11860
      Location:15871649
      SH3_DLG5; Src homology 3 domain of Disks Large homolog 5
      smart00072
      Location:17211897
      GuKc; Guanylate kinase homologues
      smart00228
      Location:13341416
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      COG1196
      Location:118541
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00992
      Location:718777
      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) ...
      pfam04822
      Location:106190
      Takusan
      pfam16610
      Location:14141489
      dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
    6. XM_017316201.3XP_017171690.1  disks large homolog 5 isoform X6

      UniProtKB/TrEMBL
      Q3UH41
      Related
      ENSMUSP00000044852.7, ENSMUST00000042009.13
      Conserved Domains (6) summary
      cd11860
      Location:15621624
      SH3_DLG5; Src homology 3 domain of Disks Large homolog 5
      smart00072
      Location:16961872
      GuKc; Guanylate kinase homologues
      smart00228
      Location:13091391
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      COG1196
      Location:150516
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00992
      Location:693752
      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) ...
      pfam16610
      Location:13891464
      dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
    7. XM_017316202.1XP_017171691.1  disks large homolog 5 isoform X7

      UniProtKB/TrEMBL
      Q3UH41
      Conserved Domains (7) summary
      cd11860
      Location:15251587
      SH3_DLG5; Src homology 3 domain of Disks Large homolog 5
      smart00072
      Location:16591835
      GuKc; Guanylate kinase homologues
      smart00228
      Location:12721354
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      COG1196
      Location:56479
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00992
      Location:656715
      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) ...
      pfam04822
      Location:44128
      Takusan
      pfam16610
      Location:13521427
      dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
    8. XM_017316203.2XP_017171692.1  disks large homolog 5 isoform X8

      UniProtKB/TrEMBL
      Q3UH41
      Conserved Domains (6) summary
      cd11860
      Location:16101672
      SH3_DLG5; Src homology 3 domain of Disks Large homolog 5
      smart00228
      Location:13571439
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      COG1196
      Location:141564
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00992
      Location:741800
      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) ...
      pfam04822
      Location:129213
      Takusan
      pfam16610
      Location:14371512
      dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5