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. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene, but the full-length nature of some of the variants is not known. [provided by RefSeq, Feb 2011]
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 Mayer-Rokitansky-Kuster-Hauser Syndrome. Among its related pathways are Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity and T cell receptor signaling pathway. 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 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.