Dlg3 discs large MAGUK scaffold protein 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dlg3provided by MGI
Official Full Name: discs large MAGUK scaffold protein 3provided by MGI
Primary source: MGI:MGI:1888986
See related: Ensembl:ENSMUSG00000000881 AllianceGenome:MGI:1888986
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: Dlgh3; SAP102; mKIAA1232
Summary: Enables ubiquitin protein ligase binding activity. Involved in regulation of postsynaptic membrane neurotransmitter receptor levels. Acts upstream of or within establishment of planar polarity and establishment or maintenance of epithelial cell apical/basal polarity. Located in several cellular components, including bicellular tight junction; glutamatergic synapse; and plasma membrane. Part of AMPA glutamate receptor complex. Is expressed in central nervous system and retina. Used to study non-syndromic X-linked intellectual disability. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability 90. Orthologous to human DLG3 (discs large MAGUK scaffold protein 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in frontal lobe adult (RPKM 16.8), cortex adult (RPKM 13.9) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: X C3; X 43.72 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (99811200..99862016)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (100767411..100818410)

Chromosome X - NC_000086.8 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
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?

MAGUKs are essential, but redundant, in long-term potentiation.
Title: MAGUKs are essential, but redundant, in long-term potentiation.
Our findings provide fundamental data to support the functional differences of SAP102 in different hippocampal subregions during postnatal periods
Title: Dynamic SAP102 expression in the hippocampal subregions of rats and APP/PS1 mice of various ages.
Following the critical period NMDA receptor function was unaffected by loss of SAP102 but there was a reduction in the divergence of TC connectivity. These data suggest that changes in synaptic function early in development caused by mutations in SAP102 result in changes in network connectivity later in life.
Title: Altered thalamocortical development in the SAP102 knockout model of intellectual disability.
our current study identified a functional interplay between PSD-95 and synapse-associated protein 102 (SAP102) to regulate synaptic AMPA receptors
Title: Synaptic state-dependent functional interplay between postsynaptic density-95 and synapse-associated protein 102.
SAP102 has a fundamental role in trafficking the NMDA receptor complex to the synaptic sites.
Title: Ligand binding of PDZ domains has various roles in the synaptic clustering of SAP102 and PSD-95.
The Dlg3 have functions in complex cognitive processes.
Title: Synaptic scaffold evolution generated components of vertebrate cognitive complexity.
Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin.
Title: Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin.
Dlg3 exerts a distinct function by recruiting the ubiquitin ligases Nedd4 and Nedd4-2 through its PPxY motifs. These interactions are required for Dlg3 monoubiquitination, apical membrane recruitment, and tight junction consolidation.
Title: Dlg3 trafficking and apical tight junction formation is regulated by nedd4 and nedd4-2 e3 ubiquitin ligases.
Membrane-associated guanylate kinase homolog SAP102 is a central organizers of the postsynaptic density at excitatory synapses on pyramidal neurons.
Title: Expression pattern of membrane-associated guanylate kinases in interneurons of the visual cortex.
SAP102 and PSD-95 regulate the synaptic trafficking of distinct glutamate receptor subtypes at different developmental stages, thereby playing necessary roles in excitatory synapse development.
Title: Differential trafficking of AMPA and NMDA receptors by SAP102 and PSD-95 underlies synapse development.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

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

Gene trapped (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables ionotropic glutamate receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables ionotropic glutamate receptor binding	ISO Inferred from Sequence Orthology more info
enables kinase binding	ISO Inferred from Sequence Orthology more info	PubMed
enables phosphatase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein phosphatase binding	ISO Inferred from Sequence Orthology more info
enables structural constituent of postsynaptic density	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryo development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within establishment of planar polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment or maintenance of epithelial cell apical/basal polarity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within establishment or maintenance of epithelial cell apical/basal polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in receptor clustering	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor localization to synapse	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of AMPA glutamate receptor complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic shaft	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in growth cone	ISO Inferred from Sequence Orthology more info
is_active_in neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic density, intracellular component	ISO Inferred from Sequence Orthology more info
located_in synapse	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: disks large homolog 3

Names: discs, large homolog 3; synapse-associated protein 102

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_001177778.3 → NP_001171249.1 disks large homolog 3 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

BX005480

Consensus CDS

CCDS53148.1

UniProtKB/TrEMBL

A2BEE9, Q80TH1

Related

ENSMUSP00000109365.3, ENSMUST00000113736.9

Conserved Domains (5) summary

cd12029
Location:520 → 586

SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3

cd00992
Location:402 → 480

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:644 → 822

Guanylate_kin; Guanylate kinase

pfam10600
Location:329 → 403

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:52 → 148

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001177779.2 → NP_001171250.1 disks large homolog 3 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, contains multiple differences in the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

BX005480

Consensus CDS

CCDS53149.1

UniProtKB/TrEMBL

A2BEF2

Related

ENSMUSP00000109364.3, ENSMUST00000113735.3

Conserved Domains (3) summary

cd12029
Location:165 → 231

SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3

cd00992
Location:47 → 125

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:321 → 499

Guanylate_kin; Guanylate kinase
NM_001177780.2 → NP_001171251.1 disks large homolog 3 isoform 4

See identical proteins and their annotated locations for NP_001171251.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, contains multiple differences in the coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

BX005480

Related

ENSMUST00000151020.8

Conserved Domains (2) summary

cd12029
Location:19 → 85

SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3

pfam00625
Location:175 → 353

Guanylate_kin; Guanylate kinase
NM_001290402.2 → NP_001277331.1 disks large homolog 3 isoform 5

See identical proteins and their annotated locations for NP_001277331.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.

Source sequence(s)

BX005480

Consensus CDS

CCDS72413.1

UniProtKB/TrEMBL

Q52KF7, Q80TH1

Related

ENSMUSP00000000901.7, ENSMUST00000000901.13

Conserved Domains (5) summary

cd12029
Location:502 → 568

SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3

cd00992
Location:384 → 462

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:626 → 804

Guanylate_kin; Guanylate kinase

pfam10600
Location:311 → 385

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:52 → 130

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
NM_001426182.1 → NP_001413111.1 disks large homolog 3 isoform 6

Status: VALIDATED

Source sequence(s)

BX005480
NM_001426183.1 → NP_001413112.1 disks large homolog 3 isoform 7

Status: VALIDATED

Source sequence(s)

BX005480
NM_001426184.1 → NP_001413113.1 disks large homolog 3 isoform 8

Status: VALIDATED

Source sequence(s)

BX005480
NM_001426185.1 → NP_001413114.1 disks large homolog 3 isoform 9

Status: VALIDATED

Source sequence(s)

BX005480
NM_001426186.1 → NP_001413115.1 disks large homolog 3 isoform 10

Status: VALIDATED

Source sequence(s)

BX005480
NM_001426187.1 → NP_001413116.1 disks large homolog 3 isoform 11

Status: VALIDATED

Source sequence(s)

BX005480
NM_016747.5 → NP_058027.1 disks large homolog 3 isoform 1

See identical proteins and their annotated locations for NP_058027.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

BX005480

Consensus CDS

CCDS30307.1

UniProtKB/Swiss-Prot

P70175

UniProtKB/TrEMBL

Q80TH1

Related

ENSMUSP00000085299.5, ENSMUST00000087984.11

Conserved Domains (5) summary

cd12029
Location:520 → 586

SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3

cd00992
Location:402 → 480

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:658 → 836

Guanylate_kin; Guanylate kinase

pfam10600
Location:329 → 403

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:52 → 148

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK

RNA

NR_189669.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

BX005480

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_000086.8 Reference GRCm39 C57BL/6J

Range

99811200..99862016

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006528124.4 → XP_006528187.1 disks large homolog 3 isoform X2

UniProtKB/TrEMBL

Q80TH1

Related

ENSMUST00000147863.8

Conserved Domains (5) summary

cd12029
Location:502 → 568

SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3

cd00992
Location:384 → 462

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:658 → 836

Guanylate_kin; Guanylate kinase

pfam10600
Location:311 → 385

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:52 → 130

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
XM_006528123.4 → XP_006528186.1 disks large homolog 3 isoform X1

UniProtKB/TrEMBL

Q80TH1

Conserved Domains (5) summary

cd12029
Location:520 → 586

SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3

cd00992
Location:402 → 480

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:676 → 854

Guanylate_kin; Guanylate kinase

pfam10600
Location:329 → 403

PDZ_assoc; PDZ-associated domain of NMDA receptors

pfam10608
Location:52 → 148

MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
XM_006528127.5 → XP_006528190.1 disks large homolog 3 isoform X4

See identical proteins and their annotated locations for XP_006528190.1

Conserved Domains (2) summary

cd12029
Location:19 → 85

SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3

pfam00625
Location:175 → 353

Guanylate_kin; Guanylate kinase