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DLG4 discs large MAGUK scaffold protein 4 [ Homo sapiens (human) ]

Gene ID: 1742, updated on 4-Nov-2018

Summary

Official Symbol
DLG4provided by HGNC
Official Full Name
discs large MAGUK scaffold protein 4provided by HGNC
Primary source
HGNC:HGNC:2903
See related
Ensembl:ENSG00000132535 MIM:602887; Vega:OTTHUMG00000134327
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
PSD95; SAP90; SAP-90
Summary
This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 34.6), testis (RPKM 6.2) and 17 other tissues See more
Orthologs

Genomic context

See DLG4 in Genome Data Viewer
Location:
17p13.1
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (7189890..7220050, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7093209..7123369, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 64 Neighboring gene asialoglycoprotein receptor 1 Neighboring gene acyl-CoA dehydrogenase very long chain Neighboring gene microRNA 324 Neighboring gene dishevelled segment polarity protein 2

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

NHGRI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 induced-neurotoxicity involves upregulation of NR2B and downregulation of PSD-95 expressions in neuron cells PubMed
env HIV-1 gp120-induced synapse loss significantly decreases levels of PSD-95 protein by the ubiquitin-proteasome pathway in the puncta PubMed
Tat tat HIV-1 Tat treatment induces the formation of complexes involving the low-density lipoprotein receptor-related protein (LRP), postsynaptic density protein-95 (PSD-95), and N-methyl-d-aspartic acid (NMDA) receptors at the neuron surface PubMed
tat HIV-1 Tat decreases the scaffolding protein postsynaptic density 95 (PSD95) in synapses via the low-density lipoprotein receptor-related protein (LRP); Tat decreases PSD95 in a concentration-dependent manner PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • ARMS-mediated activation, organism-specific biosystem (from REACTOME)
    ARMS-mediated activation, organism-specific biosystemARMS (Ankyrin-Rich Membrane Spanning/Kidins 220) is a 220kD tetraspanning adaptor protein which becomes rapidly tyrosine phosphorylated by active Trk receptors. ARMS is another adaptor protein which ...
  • 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 ...
  • Activation of NMDA receptor upon glutamate binding and postsynaptic events, organism-specific biosystem (from REACTOME)
    Activation of NMDA receptor upon glutamate binding and postsynaptic events, organism-specific biosystemNMDA receptors are a subtype of ionotropic glutamate receptors that are specifically activated by a glutamate agonist N-methyl-D-aspartate (NMDA). Activation of NMDA receptor involves opening of 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...
  • BDNF-TrkB Signaling, organism-specific biosystem (from WikiPathways)
    BDNF-TrkB Signaling, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is an important neurotrophin for the regulation of synaptic activity. BDNF-TrkB signaling, TrkB being the receptor of BDNF, is involved in transcription, tran...
  • CREB phosphorylation through the activation of CaMKII, organism-specific biosystem (from REACTOME)
    CREB phosphorylation through the activation of CaMKII, organism-specific biosystemCa2+ signal generated through NMDA receptor in the post-synaptic neuron activates adenylate cyclase signal transduction, leading to the activation of PKA and phosphorylation and activation of CREB-in...
  • CREB phosphorylation through the activation of Ras, organism-specific biosystem (from REACTOME)
    CREB phosphorylation through the activation of Ras, organism-specific biosystemCa2+ influx through the NMDA receptor initiates subsequent molecular pathways that have a defined role in establishing long-lasting synaptic changes. The molecular signaling initiated by a rise in Ca...
  • Cocaine addiction, organism-specific biosystem (from KEGG)
    Cocaine addiction, organism-specific biosystemDrug addiction is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behavior persists despite serious negative consequences.There is strong evidence that the dopaminergic...
  • Cocaine addiction, conserved biosystem (from KEGG)
    Cocaine addiction, conserved biosystemDrug addiction is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behavior persists despite serious negative consequences.There is strong evidence that the dopaminergic...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • DAP12 interactions, organism-specific biosystem (from REACTOME)
    DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
  • DAP12 signaling, organism-specific biosystem (from REACTOME)
    DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
  • 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...
  • Downstream signal transduction, organism-specific biosystem (from REACTOME)
    Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
  • ErbB4 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    ErbB4 signaling events, organism-specific biosystem
    ErbB4 signaling events
  • FCERI mediated MAPK activation, organism-specific biosystem (from REACTOME)
    FCERI mediated MAPK activation, organism-specific biosystemFormation of the LAT signaling complex leads to activation of MAPK and production of cytokines. The sequence of events that leads from LAT to cytokine production has not been as clearly defined as th...
  • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
    Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
  • Frs2-mediated activation, organism-specific biosystem (from REACTOME)
    Frs2-mediated activation, organism-specific biosystemThe adaptor protein Frs2 (Fibroblast growth factor receptor substrate 2) can mediate the prolonged activation of the MAPK (ERK) cascade.
  • GRB2 events in EGFR signaling, organism-specific biosystem (from REACTOME)
    GRB2 events in EGFR signaling, organism-specific biosystemAutophosphorylated EGFR tyrosine residues are docking sites for many downstream effectors in EGFR signaling. The adaptor protein GRB2 binds to phosphotyrosine residues in the C-tail of EGFR through i...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity, organism-specific biosystem (from REACTOME)
    Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity, organism-specific biosystemExcitatory synaptic transmission in the brain is carried out by glutamate receptors through the activation of both ionotropic and metabotropic receptors. Ionotropic glutamate receptors are of three ...
  • Glutamatergic synapse, organism-specific biosystem (from KEGG)
    Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Glutamatergic synapse, conserved biosystem (from KEGG)
    Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • 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...
  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
    IGF1R signaling cascade, organism-specific biosystemAfter autophosphorylation the type 1 insulin-like growth factor receptor (IGF1R) binds and phosphorylates scaffold proteins, IRS1/2/4 and SHC1, which in turn bind effectors possessing enzymatic activ...
  • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
    IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
  • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
    IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
    Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
  • 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...
  • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
    Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
  • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
    Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
  • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
    Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
  • 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...
  • LGI-ADAM interactions, organism-specific biosystem (from REACTOME)
    LGI-ADAM interactions, organism-specific biosystemSynapse formation and maturation require multiple interactions between presynaptic and postsynaptic neurons. These interactions are mediated by a diverse set of synaptogenic proteins (Kegel et al. 20...
  • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
    MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
  • MAPK1/MAPK3 signaling, organism-specific biosystem (from REACTOME)
    MAPK1/MAPK3 signaling, organism-specific biosystemThe extracellular signal regulated kinases (ERKs) 1 and 2, also known as MAPK3 and MAPK1, are phosphorylated by the MAP2Ks 1 and 2 in response to a wide range of extracellular stimuli to promote diff...
  • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
  • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
    NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
  • 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...
  • Post NMDA receptor activation events, organism-specific biosystem (from REACTOME)
    Post NMDA receptor activation events, organism-specific biosystemCa2+ influx through the NMDA receptor initiates subsequent molecular pathways that have a defined role in establishing long-lasting synaptic changes. The molecular signaling initiated by a rise in Ca...
  • Prolonged ERK activation events, organism-specific biosystem (from REACTOME)
    Prolonged ERK activation events, organism-specific biosystemAfter NGF binding, activated Trk receptors provide multiple docking sites for adaptor proteins and enzymes. Two docking proteins, the Ankyrin-Rich Membrane Spanning protein (ARMS/Kidins220) and Fibro...
  • 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...
  • RAF/MAP kinase cascade, organism-specific biosystem (from REACTOME)
    RAF/MAP kinase cascade, organism-specific biosystemThe RAS-RAF-MEK-ERK pathway regulates processes such as proliferation, differentiation, survival, senescence and cell motility in response to growth factors, hormones and cytokines, among others. Bin...
  • RET signaling, organism-specific biosystem (from REACTOME)
    RET signaling, organism-specific biosystemThe RET proto-oncogene encodes a receptor tyrosine kinase expressed primarily in urogenital precursor cells, spermatogonocytes, dopaminergic neurons, motor neurons and neural crest progenitors and de...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases activate CIT, organism-specific biosystem (from REACTOME)
    RHO GTPases activate CIT, organism-specific biosystemCitron kinase (CIT) or citron RHO-interacting kinase (CRIK) shares similarities with ROCK kinases. Like ROCK, it consists of a serine/threonine kinase domain, a coiled-coil region, a RHO-binding doma...
  • Ras activation uopn Ca2+ infux through NMDA receptor, organism-specific biosystem (from REACTOME)
    Ras activation uopn Ca2+ infux through NMDA receptor, organism-specific biosystemCa2+ influx through the NMDA receptor leads to the activation of Ras kinase via the activation of RasGRF.
  • 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...
  • SHC1 events in EGFR signaling, organism-specific biosystem (from REACTOME)
    SHC1 events in EGFR signaling, organism-specific biosystemGRB2 can bind EGFR directly or through another SH2-containing protein, SHC1. This association leads to RAS activation.
  • SOS-mediated signalling, organism-specific biosystem (from REACTOME)
    SOS-mediated signalling, organism-specific biosystemSOS is recruited to the plasma membrane and mediates activation of Ras.
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by EGFR, organism-specific biosystem (from REACTOME)
    Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
    Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
  • Signaling by Leptin, organism-specific biosystem (from REACTOME)
    Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
  • Signaling by PDGF, organism-specific biosystem (from REACTOME)
    Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
    Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
  • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
  • Signaling by VEGF, organism-specific biosystem (from REACTOME)
    Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • Signalling to ERKs, organism-specific biosystem (from REACTOME)
    Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
  • Signalling to RAS, organism-specific biosystem (from REACTOME)
    Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
  • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
    Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
  • Trafficking of AMPA receptors, organism-specific biosystem (from REACTOME)
    Trafficking of AMPA receptors, organism-specific biosystemRepetitive presynaptic activity causes long lasting changes in the postsynaptic transmission by changing the type and the number of AMPA receptors. These changes are brought about by trafficking mec...
  • 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,...
  • Unblocking of NMDA receptor, glutamate binding and activation, organism-specific biosystem (from REACTOME)
    Unblocking of NMDA receptor, glutamate binding and activation, organism-specific biosystemAt resting membrane potential the NMDA receptor is blocked by extracellular Mg2+ ions and therefore is not activated in this state by ligands (glutamate, glycine, NMDA). The voltage block is removed ...
  • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
    VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
  • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
    VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ97752, FLJ98574

Gene Ontology Provided by GOA

Function Evidence Code Pubs
D1 dopamine receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
P2Y1 nucleotide receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
PDZ domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Ras guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
acetylcholine receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
beta-1 adrenergic receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ionotropic glutamate receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ionotropic glutamate receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
ligand-gated ion channel activity TAS
Traceable Author Statement
more info
 
neuroligin family protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex binding ISS
Inferred from Sequence or Structural Similarity
more info
 
scaffold protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
AMPA glutamate receptor clustering IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
AMPA glutamate receptor clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
AMPA glutamate receptor clustering TAS
Traceable Author Statement
more info
PubMed 
MAPK cascade TAS
Traceable Author Statement
more info
 
cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to potassium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of protein localization IDA
Inferred from Direct Assay
more info
PubMed 
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
learning TAS
Traceable Author Statement
more info
PubMed 
negative regulation of receptor internalization ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neuron projection arborization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein tyrosine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of protein tyrosine kinase activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic neurotransmitter receptor diffusion trapping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to synapse IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex assembly IDA
Inferred from Direct Assay
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 
receptor localization to synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of NMDA receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of long-term neuronal synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
synaptic vesicle maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
AMPA glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cortical cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
 
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
excitatory synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
extrinsic component of cytoplasmic side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with ionotropic glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with ionotropic glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
juxtaparanode region of axon ISS
Inferred from Sequence or Structural Similarity
more info
 
neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection terminus ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron spine ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane IDA
Inferred from Direct Assay
more info
PubMed 
synapse IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with voltage-gated potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
disks large homolog 4
Names
Tax interaction protein 15
discs large homolog 4
post-synaptic density protein 95
synapse-associated protein 90

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_008391.2 RefSeqGene

    Range
    5001..35161
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001128827.2NP_001122299.1  disks large homolog 4 isoform 2

    See identical proteins and their annotated locations for NP_001122299.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and 5' coding region and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus and lacks a 3 amino acid internal segment when compared to isoform 1.
    Source sequence(s)
    AA954439, AK307804, AK308533, BC030203, DC336011
    Consensus CDS
    CCDS45600.1
    UniProtKB/Swiss-Prot
    P78352
    Related
    ENSP00000307471.6, OTTHUMP00000166068, ENST00000302955.11, OTTHUMT00000259420
    Conserved Domains (6) summary
    cd12030
    Location:427492
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:307391
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:62146
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:530708
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:242309
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1061
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  2. NM_001321074.1NP_001308003.1  disks large homolog 4 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC120057, AI571947, BC030203, BC136553, DB064366
    UniProtKB/TrEMBL
    B9EGL1
    Related
    ENSP00000382428.3, ENST00000399510.7
    Conserved Domains (7) summary
    cd12030
    Location:470535
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:350434
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:105189
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:573751
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:285352
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:53104
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
    cl02672
    Location:2649
    L27; L27 domain
  3. NM_001321075.1NP_001308004.1  disks large homolog 4 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AI571947, AK293835, BC030203, DC336011
    Consensus CDS
    CCDS82050.1
    UniProtKB/Swiss-Prot
    P78352
    Related
    ENSP00000382425.2, OTTHUMP00000166067, ENST00000399506.7, OTTHUMT00000259419
    Conserved Domains (6) summary
    cd12030
    Location:430495
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:310394
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:65149
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:533711
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:245312
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1064
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  4. NM_001321076.1NP_001308005.1  disks large homolog 4 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AI571947, AK299801, BC030203, BP213421
    UniProtKB/TrEMBL
    B7Z647
    Related
    ENSP00000497647.1, ENST00000649520.1
    Conserved Domains (5) summary
    cd12030
    Location:370435
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:250334
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:589
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:473651
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:185252
    PDZ_assoc; PDZ-associated domain of NMDA receptors
  5. NM_001321077.1NP_001308006.1  disks large homolog 4 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AI571947, AK297346, AK299801, BC030203, BP213421
    UniProtKB/TrEMBL
    B7Z4H2, B7Z647
    Related
    ENSP00000497879.1, ENST00000649186.1
    Conserved Domains (5) summary
    cd12030
    Location:370435
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:250334
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:589
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:473651
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:185252
    PDZ_assoc; PDZ-associated domain of NMDA receptors
  6. NM_001365.4NP_001356.1  disks large homolog 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001356.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC120057, AI571947, AK299801, BC030203, BC136553, DB064366, U83192
    Consensus CDS
    CCDS45599.1
    UniProtKB/Swiss-Prot
    P78352
    UniProtKB/TrEMBL
    B7Z647, B9EGL1
    Related
    ENSP00000497806.1, OTTHUMP00000166066, ENST00000648172.1, OTTHUMT00000259418
    Conserved Domains (7) summary
    cd12030
    Location:473538
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:353437
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:108192
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:576754
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:288355
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:53107
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
    cl02672
    Location:2649
    L27; L27 domain

RNA

  1. NR_135527.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC120057, AI571947, AK296357, BC030203, BC136553, DB064366
    Related
    ENST00000491753.2

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_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    7189890..7220050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523699.2XP_011522001.1  disks large homolog 4 isoform X1

    See identical proteins and their annotated locations for XP_011522001.1

    Conserved Domains (8) summary
    cd12030
    Location:503568
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00072
    Location:617783
    GuKc; Guanylate kinase homologues
    smart00228
    Location:383467
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:138222
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:606784
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:318385
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:54137
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
    cl02672
    Location:2649
    L27; L27 domain
  2. XM_005256491.1XP_005256548.1  disks large homolog 4 isoform X2

    See identical proteins and their annotated locations for XP_005256548.1

    Conserved Domains (6) summary
    cd12030
    Location:460525
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:340424
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:95179
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:563741
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:275342
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1094
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  3. XM_017024289.2XP_016879778.1  disks large homolog 4 isoform X5

    Conserved Domains (6) summary
    cd12030
    Location:405470
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:285369
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:40124
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:508686
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:220287
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1039
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  4. XM_017024288.2XP_016879777.1  disks large homolog 4 isoform X4

    Conserved Domains (6) summary
    cd12030
    Location:408473
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:288372
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:43127
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:511689
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:223290
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1042
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  5. XM_024450629.1XP_024306397.1  disks large homolog 4 isoform X3

    Related
    ENSP00000497546.1, ENST00000648896.1
    Conserved Domains (6) summary
    cd12030
    Location:425490
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:305389
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:60144
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:528706
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:240307
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:659
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  6. XM_011523702.1XP_011522004.1  disks large homolog 4 isoform X7

    See identical proteins and their annotated locations for XP_011522004.1

    UniProtKB/TrEMBL
    B7Z647
    Conserved Domains (5) summary
    cd12030
    Location:370435
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:250334
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:589
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:473651
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:185252
    PDZ_assoc; PDZ-associated domain of NMDA receptors
  7. XM_017024290.2XP_016879779.1  disks large homolog 4 isoform X6

    Related
    ENSP00000497011.1, ENST00000649971.1

RNA

  1. XR_934005.2 RNA Sequence

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