Aliases for DLG1 Gene
External Ids for DLG1 Gene
Previous GeneCards Identifiers for DLG1 Gene
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]
GeneCards Summary for DLG1 Gene
DLG1 (Discs Large MAGUK Scaffold Protein 1) is a Protein Coding gene. Diseases associated with DLG1 include Cleft Lip/Palate and Depression. Among its related pathways are Transmission across Chemical Synapses and SALM protein interactions at the synapses. Gene Ontology (GO) annotations related to this gene include protein kinase binding and ion channel binding. An important paralog of this gene is DLG2.
UniProtKB/Swiss-Prot Summary for DLG1 Gene
Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane (PubMed:23676497).