DLG1 (discs large MAGUK scaffold protein 1)

Gene

• Entrez ID: 1739
• Gene name: Discs large MAGUK scaffold protein 1
• Gene symbol: DLG1
• Synonyms (NCBI Gene): DLGH1, SAP-97, SAP97, hdlg
• Chromosome: 3
• Chromosome location: 3q29
• Summary: 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 tra

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030999	hsa-miR-21-5p	Microarray	18591254
MIRT440810	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440810	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT938063	hsa-miR-1178	CLIP-seq
MIRT938064	hsa-miR-1238	CLIP-seq
MIRT938065	hsa-miR-1255a	CLIP-seq
MIRT938066	hsa-miR-1255b	CLIP-seq
MIRT938067	hsa-miR-130a	CLIP-seq
MIRT938068	hsa-miR-130b	CLIP-seq
MIRT938069	hsa-miR-193a-3p	CLIP-seq
MIRT938070	hsa-miR-193b	CLIP-seq
MIRT938071	hsa-miR-19a	CLIP-seq
MIRT938072	hsa-miR-19b	CLIP-seq
MIRT938073	hsa-miR-204	CLIP-seq
MIRT938074	hsa-miR-211	CLIP-seq
MIRT938075	hsa-miR-2113	CLIP-seq
MIRT938076	hsa-miR-2117	CLIP-seq
MIRT938077	hsa-miR-2278	CLIP-seq
MIRT938078	hsa-miR-2467-3p	CLIP-seq
MIRT938079	hsa-miR-301a	CLIP-seq
MIRT938080	hsa-miR-301b	CLIP-seq
MIRT938081	hsa-miR-302f	CLIP-seq
MIRT938082	hsa-miR-3120-5p	CLIP-seq
MIRT938083	hsa-miR-3125	CLIP-seq
MIRT938084	hsa-miR-3133	CLIP-seq
MIRT938085	hsa-miR-3184	CLIP-seq
MIRT938086	hsa-miR-320a	CLIP-seq
MIRT938087	hsa-miR-320b	CLIP-seq
MIRT938088	hsa-miR-320c	CLIP-seq
MIRT938089	hsa-miR-320d	CLIP-seq
MIRT938090	hsa-miR-3617	CLIP-seq
MIRT938091	hsa-miR-3653	CLIP-seq
MIRT938092	hsa-miR-3658	CLIP-seq
MIRT938093	hsa-miR-3666	CLIP-seq
MIRT938094	hsa-miR-3671	CLIP-seq
MIRT938095	hsa-miR-3678-3p	CLIP-seq
MIRT938096	hsa-miR-3681	CLIP-seq
MIRT938097	hsa-miR-3691-5p	CLIP-seq
MIRT938098	hsa-miR-374c	CLIP-seq
MIRT938099	hsa-miR-3916	CLIP-seq
MIRT938100	hsa-miR-3926	CLIP-seq
MIRT938101	hsa-miR-421	CLIP-seq
MIRT938102	hsa-miR-423-5p	CLIP-seq
MIRT938103	hsa-miR-4272	CLIP-seq
MIRT938104	hsa-miR-4273	CLIP-seq
MIRT938105	hsa-miR-4279	CLIP-seq
MIRT938106	hsa-miR-4282	CLIP-seq
MIRT938107	hsa-miR-4295	CLIP-seq
MIRT938108	hsa-miR-4313	CLIP-seq
MIRT938109	hsa-miR-4429	CLIP-seq
MIRT938110	hsa-miR-4432	CLIP-seq
MIRT938111	hsa-miR-4446-5p	CLIP-seq
MIRT938112	hsa-miR-4477b	CLIP-seq
MIRT938113	hsa-miR-4519	CLIP-seq
MIRT938114	hsa-miR-454	CLIP-seq
MIRT938115	hsa-miR-4649-3p	CLIP-seq
MIRT938116	hsa-miR-4666-3p	CLIP-seq
MIRT938117	hsa-miR-4668-5p	CLIP-seq
MIRT938118	hsa-miR-4671-3p	CLIP-seq
MIRT938119	hsa-miR-4691-5p	CLIP-seq
MIRT938120	hsa-miR-4693-3p	CLIP-seq
MIRT938121	hsa-miR-4694-3p	CLIP-seq
MIRT938122	hsa-miR-4699-5p	CLIP-seq
MIRT938123	hsa-miR-4729	CLIP-seq
MIRT938124	hsa-miR-4755-5p	CLIP-seq
MIRT938125	hsa-miR-4778-3p	CLIP-seq
MIRT938126	hsa-miR-4789-3p	CLIP-seq
MIRT938127	hsa-miR-508-5p	CLIP-seq
MIRT938128	hsa-miR-520a-5p	CLIP-seq
MIRT938129	hsa-miR-522	CLIP-seq
MIRT938130	hsa-miR-525-5p	CLIP-seq
MIRT938131	hsa-miR-548b-3p	CLIP-seq
MIRT938132	hsa-miR-548s	CLIP-seq
MIRT938133	hsa-miR-548u	CLIP-seq
MIRT938134	hsa-miR-570	CLIP-seq
MIRT938135	hsa-miR-623	CLIP-seq
MIRT938136	hsa-miR-626	CLIP-seq
MIRT938137	hsa-miR-641	CLIP-seq
MIRT938138	hsa-miR-655	CLIP-seq
MIRT938139	hsa-miR-888	CLIP-seq
MIRT938140	hsa-miR-1	CLIP-seq
MIRT938063	hsa-miR-1178	CLIP-seq
MIRT938141	hsa-miR-1252	CLIP-seq
MIRT938142	hsa-miR-1261	CLIP-seq
MIRT938143	hsa-miR-147	CLIP-seq
MIRT938144	hsa-miR-1972	CLIP-seq
MIRT938145	hsa-miR-206	CLIP-seq
MIRT938076	hsa-miR-2117	CLIP-seq
MIRT938146	hsa-miR-3117-5p	CLIP-seq
MIRT938147	hsa-miR-3166	CLIP-seq
MIRT938148	hsa-miR-3607-5p	CLIP-seq
MIRT938149	hsa-miR-3673	CLIP-seq
MIRT938150	hsa-miR-3911	CLIP-seq
MIRT938151	hsa-miR-3973	CLIP-seq
MIRT938152	hsa-miR-409-3p	CLIP-seq
MIRT938104	hsa-miR-4273	CLIP-seq
MIRT938105	hsa-miR-4279	CLIP-seq
MIRT938153	hsa-miR-4428	CLIP-seq
MIRT938154	hsa-miR-4635	CLIP-seq
MIRT938155	hsa-miR-4648	CLIP-seq
MIRT938156	hsa-miR-4650-5p	CLIP-seq
MIRT938157	hsa-miR-4654	CLIP-seq
MIRT938116	hsa-miR-4666-3p	CLIP-seq
MIRT938158	hsa-miR-4666-5p	CLIP-seq
MIRT938121	hsa-miR-4694-3p	CLIP-seq
MIRT938159	hsa-miR-4769-5p	CLIP-seq
MIRT938160	hsa-miR-4771	CLIP-seq
MIRT938125	hsa-miR-4778-3p	CLIP-seq
MIRT938161	hsa-miR-494	CLIP-seq
MIRT938162	hsa-miR-520g	CLIP-seq
MIRT938163	hsa-miR-520h	CLIP-seq
MIRT938129	hsa-miR-522	CLIP-seq
MIRT938164	hsa-miR-591	CLIP-seq
MIRT938165	hsa-miR-613	CLIP-seq
MIRT938166	hsa-miR-633	CLIP-seq
MIRT938167	hsa-miR-644	CLIP-seq
MIRT938168	hsa-miR-934	CLIP-seq
MIRT938069	hsa-miR-193a-3p	CLIP-seq
MIRT938070	hsa-miR-193b	CLIP-seq
MIRT938098	hsa-miR-374c	CLIP-seq
MIRT938100	hsa-miR-3926	CLIP-seq
MIRT938101	hsa-miR-421	CLIP-seq
MIRT938103	hsa-miR-4272	CLIP-seq
MIRT1977604	hsa-miR-4698	CLIP-seq
MIRT1977605	hsa-miR-4735-5p	CLIP-seq
MIRT938132	hsa-miR-548s	CLIP-seq
MIRT1977606	hsa-miR-579	CLIP-seq
MIRT1977607	hsa-miR-603	CLIP-seq
MIRT1977608	hsa-miR-607	CLIP-seq
MIRT938138	hsa-miR-655	CLIP-seq
MIRT938139	hsa-miR-888	CLIP-seq
MIRT2212884	hsa-miR-1224-5p	CLIP-seq
MIRT2212885	hsa-miR-1246	CLIP-seq
MIRT938065	hsa-miR-1255a	CLIP-seq
MIRT938066	hsa-miR-1255b	CLIP-seq
MIRT2212886	hsa-miR-1264	CLIP-seq
MIRT2212887	hsa-miR-1290	CLIP-seq
MIRT938067	hsa-miR-130a	CLIP-seq
MIRT938068	hsa-miR-130b	CLIP-seq
MIRT938076	hsa-miR-2117	CLIP-seq
MIRT938077	hsa-miR-2278	CLIP-seq
MIRT2212888	hsa-miR-23a	CLIP-seq
MIRT2212889	hsa-miR-23b	CLIP-seq
MIRT2212890	hsa-miR-23c	CLIP-seq
MIRT938078	hsa-miR-2467-3p	CLIP-seq
MIRT938079	hsa-miR-301a	CLIP-seq
MIRT938080	hsa-miR-301b	CLIP-seq
MIRT938083	hsa-miR-3125	CLIP-seq
MIRT938084	hsa-miR-3133	CLIP-seq
MIRT2212891	hsa-miR-3148	CLIP-seq
MIRT2212892	hsa-miR-3161	CLIP-seq
MIRT2212893	hsa-miR-3167	CLIP-seq
MIRT2212894	hsa-miR-338-5p	CLIP-seq
MIRT938091	hsa-miR-3653	CLIP-seq
MIRT938092	hsa-miR-3658	CLIP-seq
MIRT2212895	hsa-miR-3662	CLIP-seq
MIRT938093	hsa-miR-3666	CLIP-seq
MIRT938094	hsa-miR-3671	CLIP-seq
MIRT938095	hsa-miR-3678-3p	CLIP-seq
MIRT938096	hsa-miR-3681	CLIP-seq
MIRT938097	hsa-miR-3691-5p	CLIP-seq
MIRT2212896	hsa-miR-3915	CLIP-seq
MIRT938099	hsa-miR-3916	CLIP-seq
MIRT2212897	hsa-miR-3928	CLIP-seq
MIRT938152	hsa-miR-409-3p	CLIP-seq
MIRT938103	hsa-miR-4272	CLIP-seq
MIRT938104	hsa-miR-4273	CLIP-seq
MIRT2212898	hsa-miR-4275	CLIP-seq
MIRT938107	hsa-miR-4295	CLIP-seq
MIRT2212899	hsa-miR-4311	CLIP-seq
MIRT938110	hsa-miR-4432	CLIP-seq
MIRT938112	hsa-miR-4477b	CLIP-seq
MIRT938113	hsa-miR-4519	CLIP-seq
MIRT938114	hsa-miR-454	CLIP-seq
MIRT938118	hsa-miR-4671-3p	CLIP-seq
MIRT2212900	hsa-miR-4689	CLIP-seq
MIRT2212901	hsa-miR-4712-5p	CLIP-seq
MIRT2212902	hsa-miR-4717-3p	CLIP-seq
MIRT938123	hsa-miR-4729	CLIP-seq
MIRT938127	hsa-miR-508-5p	CLIP-seq
MIRT938128	hsa-miR-520a-5p	CLIP-seq
MIRT2212903	hsa-miR-520d-5p	CLIP-seq
MIRT2212904	hsa-miR-524-5p	CLIP-seq
MIRT938130	hsa-miR-525-5p	CLIP-seq
MIRT938131	hsa-miR-548b-3p	CLIP-seq
MIRT938133	hsa-miR-548u	CLIP-seq
MIRT2212905	hsa-miR-582-5p	CLIP-seq
MIRT1977607	hsa-miR-603	CLIP-seq
MIRT2212906	hsa-miR-770-5p	CLIP-seq
MIRT2212907	hsa-miR-876-5p	CLIP-seq
MIRT938139	hsa-miR-888	CLIP-seq
MIRT2212908	hsa-miR-889	CLIP-seq
MIRT938139	hsa-miR-888	CLIP-seq
MIRT938140	hsa-miR-1	CLIP-seq
MIRT2516801	hsa-miR-1269	CLIP-seq
MIRT2516802	hsa-miR-1269b	CLIP-seq
MIRT2516803	hsa-miR-197	CLIP-seq
MIRT938145	hsa-miR-206	CLIP-seq
MIRT2516804	hsa-miR-219-2-3p	CLIP-seq
MIRT2516805	hsa-miR-2964a-3p	CLIP-seq
MIRT2516806	hsa-miR-3065-5p	CLIP-seq
MIRT2516807	hsa-miR-3182	CLIP-seq
MIRT2516808	hsa-miR-3613-3p	CLIP-seq
MIRT2516809	hsa-miR-3616-5p	CLIP-seq
MIRT2516810	hsa-miR-3647-5p	CLIP-seq
MIRT2516811	hsa-miR-3664-3p	CLIP-seq
MIRT938149	hsa-miR-3673	CLIP-seq
MIRT2516812	hsa-miR-3674	CLIP-seq
MIRT2516813	hsa-miR-3914	CLIP-seq
MIRT2516814	hsa-miR-3920	CLIP-seq
MIRT2516815	hsa-miR-409-5p	CLIP-seq
MIRT938105	hsa-miR-4279	CLIP-seq
MIRT2516816	hsa-miR-4317	CLIP-seq
MIRT2516817	hsa-miR-4484	CLIP-seq
MIRT2516818	hsa-miR-4496	CLIP-seq
MIRT2516819	hsa-miR-4529-3p	CLIP-seq
MIRT2516820	hsa-miR-4659a-5p	CLIP-seq
MIRT2516821	hsa-miR-4659b-5p	CLIP-seq
MIRT2516822	hsa-miR-4670-3p	CLIP-seq
MIRT938121	hsa-miR-4694-3p	CLIP-seq
MIRT2516823	hsa-miR-4742-3p	CLIP-seq
MIRT2516824	hsa-miR-4776-3p	CLIP-seq
MIRT938125	hsa-miR-4778-3p	CLIP-seq
MIRT2516825	hsa-miR-513c	CLIP-seq
MIRT2516826	hsa-miR-514b-5p	CLIP-seq
MIRT938129	hsa-miR-522	CLIP-seq
MIRT2516827	hsa-miR-548ac	CLIP-seq
MIRT2516828	hsa-miR-548d-3p	CLIP-seq
MIRT2516829	hsa-miR-548z	CLIP-seq
MIRT938134	hsa-miR-570	CLIP-seq
MIRT2516830	hsa-miR-573	CLIP-seq
MIRT2516831	hsa-miR-587	CLIP-seq
MIRT2516832	hsa-miR-598	CLIP-seq
MIRT938165	hsa-miR-613	CLIP-seq
MIRT2516833	hsa-miR-873	CLIP-seq
MIRT938140	hsa-miR-1	CLIP-seq
MIRT2516801	hsa-miR-1269	CLIP-seq
MIRT2516802	hsa-miR-1269b	CLIP-seq
MIRT2516803	hsa-miR-197	CLIP-seq
MIRT938145	hsa-miR-206	CLIP-seq
MIRT2516804	hsa-miR-219-2-3p	CLIP-seq
MIRT2516805	hsa-miR-2964a-3p	CLIP-seq
MIRT2679291	hsa-miR-29a	CLIP-seq
MIRT2679292	hsa-miR-29b	CLIP-seq
MIRT2679293	hsa-miR-29c	CLIP-seq
MIRT2516806	hsa-miR-3065-5p	CLIP-seq
MIRT2516807	hsa-miR-3182	CLIP-seq
MIRT2516808	hsa-miR-3613-3p	CLIP-seq
MIRT2516809	hsa-miR-3616-5p	CLIP-seq
MIRT2679294	hsa-miR-3622a-3p	CLIP-seq
MIRT2679295	hsa-miR-3622b-3p	CLIP-seq
MIRT2516810	hsa-miR-3647-5p	CLIP-seq
MIRT2516811	hsa-miR-3664-3p	CLIP-seq
MIRT938149	hsa-miR-3673	CLIP-seq
MIRT2516812	hsa-miR-3674	CLIP-seq
MIRT2516813	hsa-miR-3914	CLIP-seq
MIRT2516814	hsa-miR-3920	CLIP-seq
MIRT2516815	hsa-miR-409-5p	CLIP-seq
MIRT938105	hsa-miR-4279	CLIP-seq
MIRT2516816	hsa-miR-4317	CLIP-seq
MIRT2516817	hsa-miR-4484	CLIP-seq
MIRT2516818	hsa-miR-4496	CLIP-seq
MIRT2516819	hsa-miR-4529-3p	CLIP-seq
MIRT2516820	hsa-miR-4659a-5p	CLIP-seq
MIRT2516821	hsa-miR-4659b-5p	CLIP-seq
MIRT2516822	hsa-miR-4670-3p	CLIP-seq
MIRT938121	hsa-miR-4694-3p	CLIP-seq
MIRT2516823	hsa-miR-4742-3p	CLIP-seq
MIRT2679296	hsa-miR-4757-5p	CLIP-seq
MIRT2516824	hsa-miR-4776-3p	CLIP-seq
MIRT938125	hsa-miR-4778-3p	CLIP-seq
MIRT2516825	hsa-miR-513c	CLIP-seq
MIRT2516826	hsa-miR-514b-5p	CLIP-seq
MIRT938129	hsa-miR-522	CLIP-seq
MIRT2516827	hsa-miR-548ac	CLIP-seq
MIRT2516828	hsa-miR-548d-3p	CLIP-seq
MIRT2516829	hsa-miR-548z	CLIP-seq
MIRT938134	hsa-miR-570	CLIP-seq
MIRT2516830	hsa-miR-573	CLIP-seq
MIRT2516831	hsa-miR-587	CLIP-seq
MIRT2516832	hsa-miR-598	CLIP-seq
MIRT938165	hsa-miR-613	CLIP-seq
MIRT2516833	hsa-miR-873	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
APC	Unknown	21858148

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	20551903
GO:0000165	Process	MAPK cascade	TAS
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001771	Process	Immunological synapse formation	IEA
GO:0001772	Component	Immunological synapse	IDA	20551903
GO:0001772	Component	Immunological synapse	TAS	19841189
GO:0001935	Process	Endothelial cell proliferation	IDA	14699157
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0004385	Function	Guanylate kinase activity	TAS	7937897
GO:0004721	Function	Phosphoprotein phosphatase activity	TAS	15302935
GO:0005515	Function	Protein binding	IPI	8638125, 8922391, 9192623, 10859302, 11602598, 12097473, 12444549, 12668732, 12763866, 12902344, 15021905, 15507623, 15669058, 16103886, 17301176, 17713926, 19118189, 19555689, 20551903, 21525870, 21615688, 24550280, 25241761, 26617989, 27018634, 30126976, 31980649, 32203420
GO:0005604	Component	Basement membrane	IEA
GO:0005634	Component	Nucleus	IDA	17237226
GO:0005737	Component	Cytoplasm	IDA	17237226, 21615688
GO:0005783	Component	Endoplasmic reticulum	IDA	21615688
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	21615688
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	IDA	21615688
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	21615688
GO:0005923	Component	Bicellular tight junction	IDA	17332497
GO:0006470	Process	Protein dephosphorylation	IEA
GO:0007015	Process	Actin filament organization	IDA	14699157
GO:0007163	Process	Establishment or maintenance of cell polarity	TAS	12766944
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0008022	Function	Protein C-terminus binding	IPI	11274188
GO:0008092	Function	Cytoskeletal protein binding	TAS	8825652
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008328	Component	Ionotropic glutamate receptor complex	IBA	21873635
GO:0008360	Process	Regulation of cell shape	IMP	20551903
GO:0009790	Process	Embryo development	IBA	21873635
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	21615688
GO:0014704	Component	Intercalated disc	TAS	21164104
GO:0015459	Function	Potassium channel regulator activity	IDA	12970345
GO:0015459	Function	Potassium channel regulator activity	ISS	25447080
GO:0015459	Function	Potassium channel regulator activity	NAS	10779557
GO:0016032	Process	Viral process	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	IDA	8922391
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0019901	Function	Protein kinase binding	IPI	9341123, 10779557, 14699157
GO:0019902	Function	Phosphatase binding	IPI	10646847
GO:0030054	Component	Cell junction	IBA	21873635
GO:0030054	Component	Cell junction	IDA	12857860, 17237226
GO:0030432	Process	Peristalsis	IEA
GO:0030838	Process	Positive regulation of actin filament polymerization	IEA
GO:0030866	Process	Cortical actin cytoskeleton organization	IDA	14699157
GO:0030953	Process	Astral microtubule organization	IMP	20551903
GO:0031253	Component	Cell projection membrane	IEA
GO:0031434	Function	Mitogen-activated protein kinase kinase binding	IPI	21615688
GO:0031579	Process	Membrane raft organization	IEA
GO:0031594	Component	Neuromuscular junction	IBA	21873635
GO:0031641	Process	Regulation of myelination	IEA
GO:0032147	Process	Activation of protein kinase activity	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0034629	Process	Cellular protein-containing complex localization	IMP	20551903
GO:0035748	Component	Myelin sheath abaxonal region	IEA
GO:0042110	Process	T cell activation	IEA
GO:0042130	Process	Negative regulation of T cell proliferation	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042391	Process	Regulation of membrane potential	IDA	12970345
GO:0042982	Process	Amyloid precursor protein metabolic process	IEA
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043113	Process	Receptor clustering	IBA	21873635
GO:0043219	Component	Lateral loop	IEA
GO:0043268	Process	Positive regulation of potassium ion transport	IDA	12970345
GO:0043622	Process	Cortical microtubule organization	IMP	20551903
GO:0044325	Function	Ion channel binding	IPI	12970345
GO:0045121	Component	Membrane raft	IEA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IBA	21873635
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046037	Process	GMP metabolic process	IEA
GO:0046710	Process	GDP metabolic process	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	21615688
GO:0048608	Process	Reproductive structure development	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0051660	Process	Establishment of centrosome localization	IMP	20551903
GO:0051898	Process	Negative regulation of protein kinase B signaling	IEA
GO:0060022	Process	Hard palate development	IEA
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IMP	20551903
GO:0070830	Process	Bicellular tight junction assembly	IDA	17332497
GO:0072659	Process	Protein localization to plasma membrane	IMP	17332497
GO:0072659	Process	Protein localization to plasma membrane	TAS	21164104
GO:0097016	Function	L27 domain binding	IPI	17332497
GO:0097025	Component	MPP7-DLG1-LIN7 complex	IDA	17237226
GO:0097060	Component	Synaptic membrane	IDA	23676497
GO:0097120	Process	Receptor localization to synapse	IBA	21873635
GO:0098609	Process	Cell-cell adhesion	IBA	21873635
GO:0098609	Process	Cell-cell adhesion	IDA	14699157
GO:0098839	Component	Postsynaptic density membrane	IBA	21873635
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	ISS	25447080
GO:0098919	Function	Structural constituent of postsynaptic density	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099562	Process	Maintenance of postsynaptic density structure	IEA
GO:0099645	Process	Neurotransmitter receptor localization to postsynaptic specialization membrane	IBA	21873635
GO:1901222	Process	Regulation of NIK/NF-kappaB signaling	IMP	20551903
GO:1902305	Process	Regulation of sodium ion transmembrane transport	TAS	21164104
GO:1902473	Process	Regulation of protein localization to synapse	IDA	23676497
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IDA	12970345
GO:1903286	Process	Regulation of potassium ion import	ISS	25447080
GO:1903753	Process	Negative regulation of p38MAPK cascade	IMP	20551903
GO:1903760	Process	Regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	ISS	25447080
GO:1903764	Process	Regulation of potassium ion export across plasma membrane	ISS	25447080
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IMP	10656683
GO:2000310	Process	Regulation of NMDA receptor activity	TAS

Other IDs

• MIM: 601014
• HGNC: 2900
• e!Ensembl: ENSG00000075711

Protein

• UniProt ID: Q12959
• Protein name: Disks large homolog 1 (Synapse-associated protein 97) (SAP-97) (SAP97) (hDlg)
• Protein 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 functi
• PDB: 1PDR, 2M3M, 2OQS, 2X7Z, 3LRA, 3RL7, 3RL8, 3W9Y, 4AMH, 4G69, 7PC3, 8CN1, 8CN3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09058	L27_1	2 → 62	L27_1	Domain
  PF10608	MAGUK_N_PEST	106 → 223	Polyubiquitination (PEST) N-terminal domain of MAGUK	Domain
  PF00595	PDZ	224 → 308	PDZ domain	Domain
  PF00595	PDZ	319 → 403	PDZ domain	Domain
  PF10600	PDZ_assoc	404 → 465	PDZ-associated domain of NMDA receptors	Domain
  PF00595	PDZ	466 → 544	PDZ domain	Domain
  PF00018	SH3_1	587 → 643	SH3 domain	Domain
  PF00625	Guanylate_kin	713 → 891	Guanylate kinase	Domain

• Tissue specificity: 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 isofor
• Sequence:

  MPVRKQDTQRALHLLEEYRSKLSQTEDRQLRSSIERVINIFQSNLFQALIDIQEFYEVTL
  LDNPKCIDRSKPSEPIQPVNTWEISSLPSSTVTSETLPSSLSPSVEKYRYQDEDTPPQEH
  ISPQITNEVIGPELVHVSEKNLSEIENVHGFVSHSHISPIKPTEAVLPSPPTVPVIPVLP
  VPAENTVILPTIPQANPPPVLVNTDSLETPTYVNGTDADYEYEEITLERGNSGLGFSIAG
  GTDNPHIGDDSSIFITKIITGGAAAQDGRLRVNDCILRVNEVDVRDVTHSKAVEALKEAG
  SIVRLYVKRRKPVSEKIMEIKLIKGPKGLGFSIAGGVGNQHIPGDNSIYVTKIIEGGAAH
  KDGKLQIGDKLLAVNNVCLEEVTHEEAVTALKNTSDFVYLKVAKPTSMYMNDGYAPPDIT
  NSSSQPVDNHVSPSSFLGQTPASPARYSPVSKAVLGDDEITREPRKVVLHRGSTGLGFNI
  VGGEDGEGIFISFILAGGPADLSGELRKGDRIISVNSVDLRAASHEQAAAALKNAGQAVT
  IVAQYRPEEYSRFEAKIHDLREQMMNSSISSGSGSLRTSQKRSLYVRALFDYDKTKDSGL
  PSQGLNFKFGDILHVINASDDEWWQARQVTPDGESDEVGVIPSKRRVEKKERARLKTVKF
  NSKTRDKGEIPDDMGSKGLKHVTSNASDSESSYRGQEEYVLSYEPVNQQEVNYTRPVIIL
  GPMKDRINDDLISEFPDKFGSCVPHTTRPKRDYEVDGRDYHFVTSREQMEKDIQEHKFIE
  AGQYNNHLYGTSVQSVREVAEKGKHCILDVSGNAIKRLQIAQLYPISIFIKPKSMENIME
  MNKRLTEEQARKTFERAMKLEQEFTEHFTAIVQGDTLEDIYNQVKQIIEEQSGSYIWVPA
  KEKL

• Sequence length: 904

Pathways

KEGG:

Hippo signaling pathway
Tight junction
T cell receptor signaling pathway
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Viral carcinogenesis

Reactome:

Trafficking of AMPA receptors
Unblocking of NMDA receptors, glutamate binding and activation
Activation of Ca-permeable Kainate Receptor
RAF/MAP kinase cascade
Synaptic adhesion-like molecules

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	12421351, 20691406, 18665322

Unknown
Disease term	Disease name	Evidence	References	Source
Otitis media	Recurrent otitis media			ClinVar
Acne	Acne			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenomatous Polyposis Coli	Associate	21858148
Alzheimer Disease	Associate	34440432
Arthritis Rheumatoid	Inhibit	22307621
Arthritis Rheumatoid	Associate	28767591
Autism Spectrum Disorder	Associate	27271353, 34356069
Brugada Syndrome	Associate	36833354
Cakut	Associate	36830709
Carcinogenesis	Associate	27002939
Cardiomyopathy Dilated	Associate	28750076
Chromosome 3q29 Deletion Syndrome	Stimulate	15918153
Cleft Palate	Associate	34242216
Craniosynostoses	Associate	35627201
Crohn Disease	Associate	24937328
Endometrial Neoplasms	Associate	27002939
Esophageal Squamous Cell Carcinoma	Associate	31556152
Fever	Associate	36833354
Gallbladder Neoplasms	Associate	38341127
Intellectual Disability	Associate	20691406
Keratitis Dendritic	Associate	28195572
Mental Disorders	Associate	27026592, 33335013
Mental Retardation X Linked	Associate	15918153
Multiple Myeloma	Associate	35380688
Neoplasm Metastasis	Inhibit	27002939
Neoplasms	Inhibit	17553155, 17855372, 24788832, 8132590
Neoplasms	Associate	23319410, 27002939, 30231238, 32264889, 38341127, 9846967
Orofacial Cleft 1	Associate	31652620
Sarcoidosis	Associate	22984568
Schizophrenia	Associate	20691406, 26440542, 27271353, 28195572, 35163460
Squamous Intraepithelial Lesions	Associate	32264889
Syncope	Associate	36833354
Tachycardia Atrioventricular Nodal Reentry	Associate	27002939
Thyroid Cancer Papillary	Associate	31718630
Uterine Cervical Neoplasms	Associate	30231238