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DLG3 discs, large homolog 3 (Drosophila) [ Homo sapiens (human) ]

Gene ID: 1741, updated on 11-Sep-2014
Official Symbol
DLG3provided by HGNC
Official Full Name
discs, large homolog 3 (Drosophila)provided by HGNC
Primary source
HGNC:HGNC:2902
Locus tag
RP11-291O7.3
See related
Ensembl:ENSG00000082458; HPRD:02177; 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 mental retardation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
See DLG3 in Epigenomics, MapViewer
Location:
Xq13.1
Exon count:
23
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (70444855..70505493)
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 trafficking protein particle complex 2-like pseudogene Neighboring gene glycerophosphodiester phosphodiesterase domain containing 2 Neighboring gene DLG3 antisense RNA 1 Neighboring gene testis expressed 11 Neighboring gene coiled-coil domain containing 53 pseudogene Neighboring gene solute carrier family 7 (cationic amino acid transporter, y+ system), member 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
X-Linked mental retardation 90
MedGen: CN069586 OMIM: 300850 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA Genome Curation PagePubMed
  • 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...
  • 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...
  • 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,...
Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
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
 
ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
axon guidance TAS
Traceable Author Statement
more info
 
establishment of planar polarity IEA
Inferred from Electronic Annotation
more info
 
establishment or maintenance of epithelial cell apical/basal polarity 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 
synaptic transmission TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
dendritic shaft IEA
Inferred from Electronic Annotation
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
 
growth cone IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
tight junction IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
disks large homolog 3
Names
disks large homolog 3
neuroendocrine-DLG
synapse-associated protein 102
protein phosphatase 1, regulatory subunit 82

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 

    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 proteins identical to 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, ENST00000542398
    Conserved Domains (3) summary
    cd12029
    Location:1985
    Blast Score: 361
    SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
    cd00071
    Location:178294
    Blast Score: 292
    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:175353
    Blast Score: 569
    Guanylate_kin; Guanylate kinase
  2. NM_020730.2NP_065781.1  disks large homolog 3 isoform b

    See proteins identical to 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, OTTHUMP00000023476, ENST00000374355, OTTHUMT00000057075
    Conserved Domains (4) summary
    cd12029
    Location:165231
    Blast Score: 361
    SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
    cd00071
    Location:324440
    Blast Score: 297
    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 ...
    cd00992
    Location:47125
    Blast Score: 244
    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
    Blast Score: 583
    Guanylate_kin; Guanylate kinase
  3. NM_021120.3NP_066943.2  disks large homolog 3 isoform a

    See proteins identical to 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/TrEMBL
    Q59FY1
    UniProtKB/Swiss-Prot
    Q92796
    Related
    ENSP00000363480, OTTHUMP00000023475, ENST00000374360, OTTHUMT00000057074
    Conserved Domains (5) summary
    cd12029
    Location:502568
    Blast Score: 371
    SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
    cd00071
    Location:629745
    Blast Score: 298
    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 ...
    cd00992
    Location:384462
    Blast Score: 244
    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
    Blast Score: 604
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:311385
    Blast Score: 271
    PDZ_assoc; PDZ-associated domain of NMDA receptors

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    70444855..70505493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724627.1XP_006724690.1  

    Conserved Domains (3) summary
    cd12029
    Location:502568
    Blast Score: 372
    SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
    cd00992
    Location:384462
    Blast Score: 245
    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) ...
    pfam10600
    Location:311385
    Blast Score: 268
    PDZ_assoc; PDZ-associated domain of NMDA receptors
  2. XM_006724625.1XP_006724688.1  

    Conserved Domains (5) summary
    cd12029
    Location:502568
    Blast Score: 370
    SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
    cd00071
    Location:661777
    Blast Score: 298
    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 ...
    cd00992
    Location:384462
    Blast Score: 244
    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
    Blast Score: 600
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:311385
    Blast Score: 272
    PDZ_assoc; PDZ-associated domain of NMDA receptors
  3. XM_006724626.1XP_006724689.1  

    See proteins identical to XP_006724689.1

    Related
    ENSP00000194900, OTTHUMP00000023477, ENST00000194900, OTTHUMT00000057076
    Conserved Domains (5) summary
    cd12029
    Location:502568
    Blast Score: 370
    SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
    cd00071
    Location:643759
    Blast Score: 298
    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 ...
    cd00992
    Location:384462
    Blast Score: 244
    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
    Blast Score: 604
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:311385
    Blast Score: 271
    PDZ_assoc; PDZ-associated domain of NMDA receptors
  4. XM_005262248.1XP_005262305.1  

    See proteins identical to XP_005262305.1

    UniProtKB/Swiss-Prot
    Q92796
    Conserved Domains (3) summary
    cd12029
    Location:1985
    Blast Score: 361
    SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
    cd00071
    Location:178294
    Blast Score: 292
    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:175353
    Blast Score: 569
    Guanylate_kin; Guanylate kinase

RNA

  1. XR_430518.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    63486322..63547144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    69558605..69619214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)