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MGP Database

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MGP000839

UniProt Annotations

Entry Information

Gene Name	discs, large homolog 1 (Drosophila)
Protein Entry	DLG1_HUMAN
UniProt ID	Q12959
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=9; Name=1; IsoId=Q12959-1; Sequence=Displayed; Name=2; IsoId=Q12959-2; Sequence=VSP_003150; Name=3; IsoId=Q12959-3; Sequence=VSP_012862; Name=4; IsoId=Q12959-4; Sequence=VSP_012862, VSP_003150; Note=Ref.6 (AAI44652) sequence is in conflict in position: 636:Q->Missing. {ECO:0000305}; Name=5; IsoId=Q12959-5; Sequence=VSP_012862, VSP_012863; Name=6; IsoId=Q12959-6; Sequence=VSP_012864; Name=7; IsoId=Q12959-7; Sequence=VSP_012865; Name=8; IsoId=Q12959-8; Sequence=VSP_045896, VSP_045897; Note=No experimental confirmation available.; Name=9; IsoId=Q12959-9; Sequence=VSP_045896, VSP_045897, VSP_012865, VSP_045898; Note=No experimental confirmation available.;
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.
Domain	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.
Domain	The PDZ domains may also mediate association to membranes by binding to EPB41 and GPR124 together with the L27 domain that binds CASK and DLG2.
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. 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. {ECO:0000250, ECO:0000269\|PubMed:10656683, ECO:0000269\|PubMed:12445884, ECO:0000269\|PubMed:14699157, ECO:0000269\|PubMed:15263016, ECO:0000269\|PubMed:19213956, ECO:0000269\|PubMed:20605917}.
Interaction	P78536:ADAM17; NbExp=7; IntAct=EBI-357481, EBI-78188; Q9Y297:BTRC; NbExp=2; IntAct=EBI-357481, EBI-307461; P31016:Dlg4 (xeno); NbExp=9; IntAct=EBI-357500, EBI-375655; O57125:E6 (xeno); NbExp=2; IntAct=EBI-357481, EBI-7461590; P03126:E6 (xeno); NbExp=2; IntAct=EBI-357481, EBI-1177242; P06463:E6 (xeno); NbExp=3; IntAct=EBI-357481, EBI-1186926; P36799:E6 (xeno); NbExp=2; IntAct=EBI-357481, EBI-7363822; Q9NQT8:KIF13B; NbExp=3; IntAct=EBI-357500, EBI-766408; O60333-3:KIF1B; NbExp=4; IntAct=EBI-357481, EBI-465669; P36507:MAP2K2; NbExp=10; IntAct=EBI-357481, EBI-1056930; Q9ICL1:se6 (xeno); NbExp=3; IntAct=EBI-357481, EBI-7461477;
Ptm	Phosphorylated by MAPK12. Phosphorylation of Ser-232 regulates association with GRIN2A (By similarity). {ECO:0000250}.
Similarity	Belongs to the MAGUK family. {ECO:0000305}.
Similarity	Contains 1 guanylate kinase-like domain. {ECO:0000255\|PROSITE-ProRule:PRU00100}.
Similarity	Contains 1 L27 domain. {ECO:0000255\|PROSITE- ProRule:PRU00365}.
Similarity	Contains 1 SH3 domain. {ECO:0000255\|PROSITE- ProRule:PRU00192}.
Similarity	Contains 3 PDZ (DHR) domains. {ECO:0000255\|PROSITE- ProRule:PRU00143}.
Subcellular Location	Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Basolateral cell membrane {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse. Cell membrane, sarcolemma. Note=Colocalizes with EPB41 at regions of intercellular contacts. Basolateral in epithelial cells. May also associate with endoplasmic reticulum membranes. Mainly found in neurons soma, moderately found at postsynaptic densities (By similarity). {ECO:0000250}.
Subunit	Homotetramer (Probable). Interacts through its guanylate kinase-like domain with DLGAP1, DLGAP2, DLGAP3, DLGAP4 and MAP1A. May interact with HTR2A (By similarity). Interacts with LRFN1 (By similarity). Interacts through its PDZ domains with GRIN2A, KCNA1, KCNA2, KCNA3, KCNA4, KCNA5, KCND2, KCND3, GRIA1, GPR124 and GPR125. Interacts with KCNF1. Interacts with CAMK2 (By similarity). Interacts with cytoskeleton-associated proteins EPB41 and EZR. Found in a complex with KCNA5 and CAV3. Found in a complex with APC and CTNNB1. Interacts with CDH1 through binding to PIK3R1. Forms multiprotein complexes with CASK, LIN7A, LIN7B, LIN7C, APBA1, and KCNJ12. Interacts through its guanylate kinase- like domain with KIF13B. Forms a tripartite complex composed of DLG1, MPP7 and LIN7 (LIN7A or LIN7C). May interact with TJAP1. Interacts with TOPK and the HTLV-1 viral Tax and HPV-18 E6 papillomavirus (HPV) oncoproteins. Interacts with PTEN (By similarity). Interacts with FRMPD4 (via C-terminus). Interacts with LRFN1, LRFN2, LRFN4 and SFPQ. {ECO:0000250, ECO:0000269\|PubMed:10557085, ECO:0000269\|PubMed:10656683, ECO:0000269\|PubMed:10779557, ECO:0000269\|PubMed:10859302, ECO:0000269\|PubMed:12445884, ECO:0000269\|PubMed:14699157, ECO:0000269\|PubMed:15021905, ECO:0000269\|PubMed:16630835, ECO:0000269\|PubMed:17237226, ECO:0000269\|PubMed:17332497, ECO:0000269\|PubMed:19118189, ECO:0000269\|PubMed:19213956, ECO:0000269\|PubMed:20605917, ECO:0000269\|PubMed:20702775, ECO:0000269\|PubMed:7477295, ECO:0000269\|PubMed:7937897, ECO:0000269\|PubMed:8638125, ECO:0000269\|PubMed:8922391, ECO:0000269\|PubMed:9192623, ECO:0000305}.
Tissue Specificity	Abundantly expressed in atrial myocardium (at protein level). Expressed in lung fibroblasts, cervical epithelial and B-cells (at protein level). Widely expressed, with isoforms displaying different expression profiles. {ECO:0000269\|PubMed:12445884, ECO:0000269\|PubMed:19213956, ECO:0000269\|PubMed:7937897}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/DLG1ID40333ch3q29.html";