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DLG3 discs large MAGUK scaffold protein 3 [ Homo sapiens (human) ]

Gene ID: 1741, updated on 9-Sep-2018

Summary

Official Symbol
DLG3provided by HGNC
Official Full Name
discs large MAGUK scaffold protein 3provided by HGNC
Primary source
HGNC:HGNC:2902
See related
Ensembl:ENSG00000082458 MIM:300189; Vega:OTTHUMG00000021778
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
MRX; XLMR; MRX90; NEDLG; SAP102; PPP1R82
Summary
This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked cognitive disability. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in brain (RPKM 7.8), colon (RPKM 6.2) and 23 other tissues See more
Orthologs

Genomic context

See DLG3 in Genome Data Viewer
Location:
Xq13.1
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (70444850..70505490)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (69664705..69725343)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene kinesin family member 4A Neighboring gene uncharacterized LOC105373244 Neighboring gene RNA, Ro-associated Y4 pseudogene 23 Neighboring gene glycerophosphodiester phosphodiesterase domain containing 2 Neighboring gene RNA, U4 small nuclear 81, pseudogene Neighboring gene DLG3 antisense RNA 1 Neighboring gene testis expressed 11 Neighboring gene small integral membrane protein 30-like Neighboring gene small nucleolar RNA, C/D box 3E

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
X-Linked mental retardation 90
MedGen: C3275443 OMIM: 300850 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-10-18)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-10-18)

ClinGen Genome Curation PagePubMed

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...
  • 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...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
    Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
  • 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...
  • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
    Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...
  • SALM protein interactions at the synapses, organism-specific biosystem (from REACTOME)
    SALM protein interactions at the synapses, organism-specific biosystemRecruitment of receptors and ion channels to the postsynaptic membrane is the last step in synapse formation. Many of these proteins interact directly or indirectly with postsynaptic density-95 (PSD9...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • 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,...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1232

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IEA
Inferred from Electronic Annotation
more info
 
ionotropic glutamate receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
ligand-gated ion channel activity TAS
Traceable Author Statement
more info
 
phosphatase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase binding IEA
Inferred from Electronic Annotation
more info
 
structural constituent of postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
GDP metabolic process IEA
Inferred from Electronic Annotation
more info
 
GMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of planar polarity IEA
Inferred from Electronic Annotation
more info
 
establishment or maintenance of epithelial cell apical/basal polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
maintenance of postsynaptic density structure IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein tyrosine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
receptor clustering IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor localization to synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
AMPA glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dendritic shaft IEA
Inferred from Electronic Annotation
more info
 
extracellular space HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
growth cone IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with ionotropic glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density, intracellular component IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
disks large homolog 3
Names
discs, large homolog 3
neuroendocrine-DLG
protein phosphatase 1, regulatory subunit 82
synapse-associated protein 102

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_015849.1 RefSeqGene

    Range
    5001..65636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166278.1NP_001159750.1  disks large homolog 3 isoform c

    See identical proteins and their annotated locations for NP_001159750.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. Translation initiates at a downstream AUG and results in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AB033058, AK303377, CK300381
    Consensus CDS
    CCDS55439.1
    UniProtKB/Swiss-Prot
    Q92796
    Related
    ENSP00000441393.1, ENST00000542398.1
    Conserved Domains (2) summary
    pfam00625
    Location:175353
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:1985
    SH3; Src Homology 3 domain superfamily
  2. NM_020730.2NP_065781.1  disks large homolog 3 isoform b

    See identical proteins and their annotated locations for NP_065781.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. Translation initiates at an alternate AUG and results in an isoform (b) that is shorter and has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AB033058, CK300381, CN357435
    Consensus CDS
    CCDS43967.1
    UniProtKB/Swiss-Prot
    Q92796
    Related
    ENSP00000363475.3, OTTHUMP00000023476, ENST00000374355.7, OTTHUMT00000057075
    Conserved Domains (3) summary
    cd00992
    Location:47125
    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:321499
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:165231
    SH3; Src Homology 3 domain superfamily
  3. NM_021120.3NP_066943.2  disks large homolog 3 isoform a

    See identical proteins and their annotated locations for NP_066943.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB033058, AB209328, BC093866, CK300381
    Consensus CDS
    CCDS14403.1
    UniProtKB/Swiss-Prot
    Q92796
    UniProtKB/TrEMBL
    Q59FY1
    Related
    ENSP00000363480.3, OTTHUMP00000023475, ENST00000374360.7, OTTHUMT00000057074
    Conserved Domains (5) summary
    cd12029
    Location:502568
    SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
    cd00992
    Location:384462
    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:626804
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:311385
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:52130
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    70444850..70505490
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724625.2XP_006724688.1  disks large homolog 3 isoform X1

    See identical proteins and their annotated locations for XP_006724688.1

    Conserved Domains (6) summary
    cd12029
    Location:502568
    SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
    smart00072
    Location:669836
    GuKc; Guanylate kinase homologues
    cd00992
    Location:384462
    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:658836
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:311385
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:52130
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  2. XM_011530883.1XP_011529185.1  disks large homolog 3 isoform X2

    Conserved Domains (6) summary
    cd12029
    Location:502568
    SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
    smart00072
    Location:655822
    GuKc; Guanylate kinase homologues
    cd00992
    Location:384462
    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:644822
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:311385
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:52130
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  3. XM_006724626.2XP_006724689.1  disks large homolog 3 isoform X3

    See identical proteins and their annotated locations for XP_006724689.1

    Related
    ENSP00000194900.4, OTTHUMP00000023477, ENST00000194900.8, OTTHUMT00000057076
    Conserved Domains (5) summary
    cd12029
    Location:502568
    SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
    cd00992
    Location:384462
    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:640818
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:311385
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:52130
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  4. XM_005262248.4XP_005262305.1  disks large homolog 3 isoform X8

    See identical proteins and their annotated locations for XP_005262305.1

    UniProtKB/Swiss-Prot
    Q92796
    Conserved Domains (2) summary
    pfam00625
    Location:175353
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:1985
    SH3; Src Homology 3 domain superfamily
  5. XM_017029322.2XP_016884811.1  disks large homolog 3 isoform X4

  6. XM_017029323.2XP_016884812.1  disks large homolog 3 isoform X5

  7. XM_017029324.2XP_016884813.1  disks large homolog 3 isoform X6

  8. XM_017029327.1XP_016884816.1  disks large homolog 3 isoform X9

  9. XM_017029326.2XP_016884815.1  disks large homolog 3 isoform X8

    UniProtKB/Swiss-Prot
    Q92796
    Conserved Domains (2) summary
    pfam00625
    Location:175353
    Guanylate_kin; Guanylate kinase
    cl17036
    Location:1985
    SH3; Src Homology 3 domain superfamily
  10. XM_017029325.2XP_016884814.1  disks large homolog 3 isoform X7

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