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DLG1_HUMAN

Domain

The alternatively spliced domain I3 corresponding to amino acids (636-669) of isoform 4 is an EPB41 binding site mediating association to membranes in polarized and non-polarized cells.

The PDZ domains may also mediate association to membranes by binding to EPB41 and ADGRA2 together with the L27 domain that binds CASK and DLG2.

The L27 domain may regulate DLG1 self-association. The N-terminal alternatively spliced region is capable of binding several SH3 domains and also moderates the level of protein oligomerization.

Function

Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. Promotes epithelial cell layer barrier function via maintaining cell-cell adhesion (By similarity). May also 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).

Post-translational modifications

Phosphorylated by MAPK12 (PubMed:20605917). Phosphorylation of Ser-232 regulates association with GRIN2A (By similarity).

Ubiquitinated; by MARCHF2 which results in its degradation.

Sequence Similarities

Belongs to the MAGUK family.

Tissue Specificity

Abundantly expressed in atrial myocardium (at protein level). Expressed in lung fibroblasts, cervical epithelial and B-cells (at protein level). Expressed in the brain (at protein level) (PubMed:23676497). Widely expressed, with isoforms displaying different expression profiles.

Cellular localization

Alternative names

Disks large homolog 1, Synapse-associated protein 97, hDlg, SAP-97, SAP97, DLG1

swissprot:Q12959 omim:601014 entrezGene:1739