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

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, Nov 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: human all
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Genomic context

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_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dlg5 is required for Hh-induced enrichment of Kif7 and Gli2 at the tip of the cilium but is dispensable for Gpr161 exit from the cilium and the consequent suppression of Gli3 processing into its repressor form
Title: Bifurcating action of Smoothened in Hedgehog signaling is mediated by Dlg5.
DLG5 is a MAGUK protein that regulates spine formation, synaptogenesis, and synaptic transmission in cortical neurons.
Title: Dlg5 regulates dendritic spine formation and synaptogenesis by controlling subcellular N-cadherin localization.
Dlg5 maintains apical aPKC and regulates progenitor differentiation during lung morphogenesis.
Title: Dlg5 maintains apical aPKC and regulates progenitor differentiation during lung morphogenesis.
Data report that Discs large 5 (Dlg5), a member of the MAGUK family, is an interactor of CitK required for CitK polarization.
Title: Discs large 5 is required for polarization of citron kinase in mitotic neural precursors.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125273 (e-PCR)
- UniSTS:162095

NoName (e-PCR)
- UniSTS:237137

RH139450 (e-PCR)
- UniSTS:221536

AA986715 (e-PCR)
- UniSTS:185987

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

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Preferred Names: disks large homolog 5

Names: discs, large homolog 5

NCBI Reference Sequences (RefSeq)

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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)

NM_001163513.1 → NP_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:1600 → 1662

SH3_DLG5; Src homology 3 domain of Disks Large homolog 5

smart00072
Location:1734 → 1910

GuKc; Guanylate kinase homologues

smart00228
Location:1347 → 1429

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:722 → 790

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:129 → 213

Takusan; Takusan

pfam14197
Location:545 → 585

Cep57_CLD_2; Centrosome localization domain of PPC89

pfam16610
Location:1427 → 1502

dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5

cl25732
Location:141 → 564

SMC_N; RecF/RecN/SMC N terminal domain
NM_027726.1 → NP_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:1577 → 1639

SH3_DLG5; Src homology 3 domain of Disks Large homolog 5

smart00072
Location:1711 → 1887

GuKc; Guanylate kinase homologues

smart00228
Location:1324 → 1406

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

COG1340
Location:272 → 564

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

cd00992
Location:699 → 767

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:1717 → 1886

Guanylate_kin; Guanylate kinase

pfam04822
Location:107 → 189

Takusan; Takusan

pfam16610
Location:1404 → 1479

dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5

cl12013
Location:394 → 578

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl23733
Location:287 → 426

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

NC_000080.7 Reference GRCm39 C57BL/6J

Range

24184021..24295988 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q3UH41

Conserved Domains (8) summary

cd11860
Location:1605 → 1667

SH3_DLG5; Src homology 3 domain of Disks Large homolog 5

smart00072
Location:1739 → 1915

GuKc; Guanylate kinase homologues

smart00228
Location:1352 → 1434

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

COG1196
Location:141 → 564

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00992
Location:736 → 795

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:129 → 213

Takusan

pfam14197
Location:545 → 585

Cep57_CLD_2; Centrosome localization domain of PPC89

pfam16610
Location:1432 → 1507

dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
XM_017316199.2 → XP_017171688.1 disks large homolog 5 isoform X4

UniProtKB/TrEMBL

Q3UH41

Conserved Domains (7) summary

cd11860
Location:1605 → 1667

SH3_DLG5; Src homology 3 domain of Disks Large homolog 5

smart00072
Location:1739 → 1915

GuKc; Guanylate kinase homologues

smart00228
Location:1352 → 1434

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

COG1196
Location:141 → 564

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00992
Location:727 → 795

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:129 → 213

Takusan

pfam16610
Location:1432 → 1507

dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
XM_017316198.2 → XP_017171687.1 disks large homolog 5 isoform X2

UniProtKB/TrEMBL

Q3UH41

Conserved Domains (7) summary

cd11860
Location:1609 → 1671

SH3_DLG5; Src homology 3 domain of Disks Large homolog 5

smart00072
Location:1743 → 1919

GuKc; Guanylate kinase homologues

smart00228
Location:1357 → 1439

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

COG1196
Location:141 → 564

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00992
Location:741 → 800

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:129 → 213

Takusan

pfam16610
Location:1437 → 1511

dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
XM_017316197.2 → XP_017171686.1 disks large homolog 5 isoform X1

UniProtKB/TrEMBL

Q3UH41

Conserved Domains (7) summary

cd11860
Location:1610 → 1672

SH3_DLG5; Src homology 3 domain of Disks Large homolog 5

smart00072
Location:1744 → 1920

GuKc; Guanylate kinase homologues

smart00228
Location:1357 → 1439

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

COG1196
Location:141 → 564

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00992
Location:741 → 800

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:129 → 213

Takusan

pfam16610
Location:1437 → 1512

dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
XM_017316200.3 → XP_017171689.1 disks large homolog 5 isoform X5

UniProtKB/TrEMBL

Q3UH41

Conserved Domains (7) summary

cd11860
Location:1587 → 1649

SH3_DLG5; Src homology 3 domain of Disks Large homolog 5

smart00072
Location:1721 → 1897

GuKc; Guanylate kinase homologues

smart00228
Location:1334 → 1416

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

COG1196
Location:118 → 541

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00992
Location:718 → 777

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:106 → 190

Takusan

pfam16610
Location:1414 → 1489

dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
XM_017316201.3 → XP_017171690.1 disks large homolog 5 isoform X6

UniProtKB/TrEMBL

Q3UH41

Related

ENSMUSP00000044852.7, ENSMUST00000042009.13

Conserved Domains (6) summary

cd11860
Location:1562 → 1624

SH3_DLG5; Src homology 3 domain of Disks Large homolog 5

smart00072
Location:1696 → 1872

GuKc; Guanylate kinase homologues

smart00228
Location:1309 → 1391

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

COG1196
Location:150 → 516

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00992
Location:693 → 752

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:1389 → 1464

dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
XM_017316202.1 → XP_017171691.1 disks large homolog 5 isoform X7

UniProtKB/TrEMBL

Q3UH41

Conserved Domains (7) summary

cd11860
Location:1525 → 1587

SH3_DLG5; Src homology 3 domain of Disks Large homolog 5

smart00072
Location:1659 → 1835

GuKc; Guanylate kinase homologues

smart00228
Location:1272 → 1354

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

COG1196
Location:56 → 479

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00992
Location:656 → 715

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:44 → 128

Takusan

pfam16610
Location:1352 → 1427

dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5
XM_017316203.2 → XP_017171692.1 disks large homolog 5 isoform X8

UniProtKB/TrEMBL

Q3UH41

Conserved Domains (6) summary

cd11860
Location:1610 → 1672

SH3_DLG5; Src homology 3 domain of Disks Large homolog 5

smart00228
Location:1357 → 1439

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

COG1196
Location:141 → 564

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00992
Location:741 → 800

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:129 → 213

Takusan

pfam16610
Location:1437 → 1512

dbPDZ_assoc; Unstructured region between two PDZ domains on Dlg5