DLG1 Gene Summary [Human]
This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018]
Details
| Type | Protein Coding |
| Official Symbol | DLG1 |
| Official Name | discs large MAGUK scaffold protein 1 [Source:HGNC Symbol;Acc:HGNC:2900] |
| Ensembl ID | ENSG00000075711 |
| Bio databases IDs | |
| Aliases | discs large MAGUK scaffold protein 1, discs large homolog 1, presynaptic protein SAP97, synapse-associated protein 97 |
| Synonyms | B130052P05Rik, Discs large 1 tumor suppressor, Discs large 1 tumour suppressor, discs large MAGUK scaffold protein 1, DKFZp761P0818, DLGH1, E-dlg/SAP97, hdlg, mKIAA4187, SAP-97 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DLG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- L27_1
- inserted domain
- L27 domain
- guanylate kinase
- ERM binding domain
- MAGUK recruitment domain
- Polyubiquitination (PEST) N-terminal domain of MAGUK
- cytoskeletal protein binding
- guanylate kinase-like domain
- ion channel binding
- phosphatase binding
- Domain present in PSD-95, Dlg, and ZO-1/2
- protein kinase binding
- potassium channel regulator
- canonical PDZ domain
- protein domain specific binding
- protein binding
- PDZ domain
- ionotropic glutamate receptor binding
- kinesin binding
- PDZ-domain binding
- Src Homology 3 domain superfamily
- kinase
- kinase binding
- NK
- hinge domain
- cpPDZ_Deg_HtrA-like
- structural molecule
- PDZ-associated domain of NMDA receptors
Pathways
Biological processes and signaling networks where the DLG1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- T-cell non-Hodgkin disease
- mature T-cell neoplasia
- acne
- primary antiphospholipid antibody syndrome
- cleft palate
- primary biliary cirrhosis
- cleft lip
- hydronephrosis
- adult T-cell leukemia/lymphoma
role in cell
- phosphorylation in
- migration
- activation in
- production in
- expression in
- binding in
- formation
- proliferation
- growth
- synthesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microsomal fraction
- synaptic plasma membrane fractions
- nuclear fraction
- soluble fraction
- detergent resistant lipid raft fraction
- synaptic vesicle membrane
- dendrite tip
- glutaminergic synapse
- endoplasmic reticulum mitochondria contact site
- cell junction
- axon component
- intracellular compartment
- cytoskeleton
- organelle
- presynaptic regions
- cilia
- cell surface
- cell borders
- cell periphery
- intracellular space
- somatodendritic region
- perinuclear region
- cellular membrane
- filamentous network
- Nucleus
- Plasma Membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- microtubules
- intercellular junctions
- immunological synapses
- cell-cell contacts
- cytosol
- cytoplasmic face of plasma membrane
- endoplasmic reticulum membrane
- microsome
- hypolemmal cisternae
- presynaptic membrane
- postsynaptic membrane
- synaptic membrane
- basolateral membrane
- basal membrane
- sinusoidal membrane
- lateral plasma membrane
- dendritic spines
- nodes of Ranvier
- myelin sheath outer loop
- neuromuscular junctions
- paranodal loops
- paranodes
- dendrite initial segments
- myelin sheath
- synaptosomes
- synapse
- Schmidt-Lanterman incisures
- intercalated disks
- transverse tubules
- anchoring junction
- tight junctions
- membrane rafts
- cellular protrusions
- microvilli
- perikaryon
- axons
- dendrites
- postsynaptic density
- axon terminals
- cell-cell adherens junctions
- basement membrane
- apical processes
- detergent-soluble fraction
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DLG1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryo development
- regulation of cell shape
- hard palate development
- positive regulation of cell proliferation
- GDP metabolic process
- actin filament organization
- positive regulation of potassium ion transport
- GMP metabolic process
- cortical microtubule organization
- lens development in camera-type eye
- immunological synapse formation
- cortical actin cytoskeleton organization
- negative regulation of transcription from RNA polymerase II promoter
- protein kinase B signaling cascade
- establishment of centrosome localization
- establishment or maintenance of epithelial cell apical/basal polarity
- negative regulation of G1/S transition of mitotic cell cycle
- membrane raft organization
- reproductive structure development
- establishment or maintenance of cell polarity
- actin filament polymerization
- synaptic transmission
- smooth muscle tissue development
- amyloid precursor protein metabolic process
- receptor clustering
- embryonic skeletal system morphogenesis
- receptor localization to synapse
- astral microtubule organization
- protein complex localization
- regulation of membrane potential
- branching involved in ureteric bud morphogenesis
- negative regulation of T cell proliferation
- negative regulation of ERK1 and ERK2 cascade
- positive regulation of actin filament polymerization
- T cell proliferation
- negative regulation of epithelial cell proliferation
- endothelial cell proliferation
- tight junction assembly
- regulation of myelination
- peristalsis
- protein localization in plasma membrane
- negative regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- lateral plasma membrane
- Golgi apparatus
- neuron projection
- immunological synapse
- microtubule
- internal side of plasma membrane
- endoplasmic reticulum membrane
- tight junction
- basement membrane
- MPP7-DLG1-LIN7 complex
- extracellular vesicular exosome
- sarcolemma
- cytosol
- neuromuscular junction
- cell projection membrane
- lateral loop
- endoplasmic reticulum
- synaptic membrane
- plasma membrane
- nucleus
- adherens junction
- cell-cell junction
- perinuclear region of cytoplasm
- cytoplasm
- membrane raft
- cell junction
- node of Ranvier
- intercalated disc
- myelin sheath abaxonal region
- basolateral plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatase binding
- protein kinase binding
- ionotropic glutamate receptor binding
- guanylate kinase activity
- ion channel binding
- phosphoprotein phosphatase activity
- protein binding
- L27 domain binding
- cadherin binding
- cytoskeletal protein binding
- potassium channel regulator activity
- binding, bridging