DLG1 (discs large MAGUK scaffold protein 1)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1739 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Discs large MAGUK scaffold protein 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
DLG1 |
SynonymsGene synonyms aliases
|
DLGH1, SAP-97, SAP97, hdlg |
ChromosomeChromosome number
|
3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
3q29 |
SummarySummary of gene provided in NCBI Entrez 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 tra |
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
APC |
Unknown |
21858148 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
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 |
|
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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|
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 |
|
Sequence |
|
Sequence length |
904 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
|
Causal |
Disease name |
Disease term |
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 |
rs74315508, rs74315509, rs13447324, rs1558507406, 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 name |
Disease term |
dbSNP ID |
References |
Hypoplasia of the maxilla |
Hypoplasia of the maxilla |
|
|
Malnutrition |
Malnutrition |
|
|
Oropharyngeal dysphagia |
Oropharyngeal Dysphagia |
|
|
Otitis media |
Recurrent otitis media |
rs601338, rs1047781, rs1800028 |
|
Velopharyngeal insufficiency |
Velopharyngeal Insufficiency |
|
|
|
|
|