DLG3

DLG3
Estructuras disponibles
PDB	Búsqueda ortóloga: PDBe RCSB
Lista de codigos id de PDB
	1UM7, 2FE5, 2I1N
Identificadores
Alias	DLG3, MRX, MRX90, NEDLG, PPP1R82, SAP102, XLMR, discs large homolog 3, discs large MAGUK scaffold protein 3, XLID90
IDs externos	OMIM: 300189 MGI: 1888986 HomoloGene: 41157 GeneCards: DLG3
Enfermedades genéticamente relacionadas
	non-syndromic X-linked intellectual disability
Ontología génica
Función molecular	• phosphatase binding; • PDZ domain binding; • protein domain specific binding; • guanylate kinase activity; • kinase binding; • protein C-terminus binding; • GO:0001948, GO:0016582 unión a proteína plasmática; • ionotropic glutamate receptor binding; • protein phosphatase binding; • ubiquitin protein ligase binding; • ligand-gated ion channel activity; • structural constituent of postsynaptic density;
Componente celular	• citoplasma; • postsynaptic membrane; • GO:0097483, GO:0097481 postsynaptic density; • cell-cell junction; • bicellular tight junction; • Cono de crecimiento neural; • membrana plasmática; • sinapsis; • dendritic shaft; • soma; • basolateral plasma membrane; • AMPA glutamate receptor complex; • ionotropic glutamate receptor complex; • extracelular; • citosol; • unión celular; • Unión neuromuscular; • proyección neuronal; • postsynaptic density membrane; • glutamatergic synapse; • postsynaptic density, intracellular component;
Proceso biológico	• receptor localization to synapse; • negative regulation of phosphatase activity; • establishment of planar polarity; • receptor clustering; • desarrollo neural; • establishment or maintenance of epithelial cell apical/basal polarity; • negative regulation of cell population proliferation; • ion transmembrane transport; • GMP metabolic process; • GDP metabolic process; • transmisión sináptica química; • MAPK cascade; • positive regulation of protein tyrosine kinase activity; • cell-cell adhesion; • regulation of postsynaptic membrane neurotransmitter receptor levels; • maintenance of postsynaptic density structure; • regulation of NMDA receptor activity;
	Fuentes: Amigo / QuickGO
Patrón de la expressión del ARN
	; ; ; ;
	Más referencias a datos de expressión
Ortólogos
	1741
	53310
	ENSG00000082458
	ENSMUSG00000000881
	Q92796
	P70175
	NM_001166278; NM_020730; NM_021120
	NM_001177778; NM_001177779; NM_001177780; NM_001290402; NM_016747
	NP_001159750; NP_065781; NP_066943
	NP_001171249; NP_001171250; NP_001171251; NP_001277331; NP_058027
	Wikidata
Ver/Editar Humano	Ver/Editar Ratón

El homólogo 3 de discos grandes (DLG3), también conocido como DLG-neuroendocrino o proteína 102 asociada a la sinapsis (SAP-102), es una proteína que pertenece a la superfamilia de proteínas guanilato quinasa asociadas a la membrana (MAGUK) y como tal, organiza las sinapsis excitatorias en el sistema nervioso central. DLG3 es una proteína estructural esencial presente en muchas especies animales diferentes, que funciona principalmente en el sistema nervioso y el desarrollo de las células epiteliales. En humanos es codificada por el gen DLG3.

Importancia clínica

Ciertas variantes del gen están asociadas con la discapacidad intelectual ligada al cromosoma X, epilepsia con o sin retrasos en el neurodesarrollo, trastornos del espectro autista y características de esquizofrenia.

Interacciones

Se ha demostrado que DLG3 interactúa con otras porteínas:

Referencias

↑ «Diseases that are genetically associated with DLG3 view/edit references on wikidata».
↑ «Human PubMed Reference:».
↑ «Mouse PubMed Reference:».
↑ Gidado, Khalid Idris; Adeshakin, Funmilayo O.; Rabiu, Lawan; Zhang, Ziyang; Zhang, Guizhong; Wan, Xiaochun (26 de enero de 2025). «Multifaceted roles of DLG3/SAP102 in neurophysiology, neurological disorders and tumorigenesis». Neuroscience 565: 192-201. ISSN 1873-7544. PMID 39638232. doi:10.1016/j.neuroscience.2024.11.081. Consultado el 14 de octubre de 2026.
↑ Stathakis DG, Lee D, Bryant PJ (Aug 1998). «DLG3, the gene encoding human neuroendocrine Dlg (NE-Dlg), is located within the 1.8-Mb dystonia-parkinsonism region at Xq13.1». Genomics 49 (2): 310-3. PMID 9598320. doi:10.1006/geno.1998.5243.
↑ «Entrez Gene: DLG3 Discs, large homolog 3 (neuroendocrine-dlg, Drosophila)».
↑ «DLG3 Gene - GeneCards». www.genecards.org. Consultado el 14 de octubre de 2026.
↑ He, Yun-Yan; Luo, Sheng; Jin, Liang; Wang, Peng-Yu; Xu, Jie; Jiao, Hong-Liang; Yan, Hong-Jun; Wang, Yao et al. (5 de enero de 2024). «DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation». Frontiers in Molecular Neuroscience (en english) (Frontiers) 16. ISSN 1662-5099. doi:10.3389/fnmol.2023.1290919. Consultado el 14 de octubre de 2026.
↑ Makino K, Kuwahara H, Masuko N, Nishiyama Y, Morisaki T, Sasaki J, Nakao M, Kuwano A, Nakata M, Ushio Y, Saya H (May 1997). «Cloning and characterization of NE-dlg: a novel human homolog of the Drosophila discs large (dlg) tumor suppressor protein interacts with the APC protein». Oncogene 14 (20): 2425-33. PMID 9188857. doi:10.1038/sj.onc.1201087.
1 2 3 4 Lim IA, Hall DD, Hell JW (Jun 2002). «Selectivity and promiscuity of the first and second PDZ domains of PSD-95 and synapse-associated protein 102». J. Biol. Chem. 277 (24): 21697-711. PMID 11937501. doi:10.1074/jbc.M112339200.
↑ Masuko N, Makino K, Kuwahara H, Fukunaga K, Sudo T, Araki N, Yamamoto H, Yamada Y, Miyamoto E, Saya H (Feb 1999). «Interaction of NE-dlg/SAP102, a neuronal and endocrine tissue-specific membrane-associated guanylate kinase protein, with calmodulin and PSD-95/SAP90. A possible regulatory role in molecular clustering at synaptic sites». J. Biol. Chem. 274 (9): 5782-90. PMID 10026200. doi:10.1074/jbc.274.9.5782.
1 2 3 Sans N, Prybylowski K, Petralia RS, Chang K, Wang YX, Racca C, Vicini S, Wenthold RJ (Jun 2003). «NMDA receptor trafficking through an interaction between PDZ proteins and the exocyst complex». Nat. Cell Biol. 5 (6): 520-30. PMID 12738960. doi:10.1038/ncb990.
1 2 Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, Takai Y, Rosahl TW, Südhof TC (Sep 1997). «Binding of neuroligins to PSD-95». Science 277 (5331): 1511-5. PMID 9278515. doi:10.1126/science.277.5331.1511.
↑ Inanobe A, Fujita A, Ito M, Tomoike H, Inageda K, Kurachi Y (Jun 2002). «Inward rectifier K+ channel Kir2.3 is localized at the postsynaptic membrane of excitatory synapses». Am. J. Physiol., Cell Physiol. 282 (6): C1396-403. PMID 11997254. doi:10.1152/ajpcell.00615.2001.
↑ Leonoudakis D, Conti LR, Anderson S, Radeke CM, McGuire LM, Adams ME, Froehner SC, Yates JR, Vandenberg CA (May 2004). «Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins». J. Biol. Chem. 279 (21): 22331-46. PMID 15024025. doi:10.1074/jbc.M400285200.
↑ Seabold GK, Burette A, Lim IA, Weinberg RJ, Hell JW (Apr 2003). «Interaction of the tyrosine kinase Pyk2 with the N-methyl-D-aspartate receptor complex via the Src homology 3 domains of PSD-95 and SAP102». J. Biol. Chem. 278 (17): 15040-8. PMID 12576483. doi:10.1074/jbc.M212825200.
↑ Kim JH, Liao D, Lau LF, Huganir RL (Apr 1998). «SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family». Neuron 20 (4): 683-91. PMID 9581761. doi:10.1016/S0896-6273(00)81008-9.

Datos: Q17914011
Multimedia: Category:Synapse-associated protein 102 / Q17914011

[1] «Diseases that are genetically associated with DLG3 view/edit references on wikidata».

[2] «Human PubMed Reference:».

[3] «Mouse PubMed Reference:».

[4] Gidado, Khalid Idris; Adeshakin, Funmilayo O.; Rabiu, Lawan; Zhang, Ziyang; Zhang, Guizhong; Wan, Xiaochun (26 de enero de 2025). «Multifaceted roles of DLG3/SAP102 in neurophysiology, neurological disorders and tumorigenesis». Neuroscience 565: 192-201. ISSN 1873-7544. PMID 39638232. doi:10.1016/j.neuroscience.2024.11.081. Consultado el 14 de octubre de 2026.

[pmid9598320-5] Stathakis DG, Lee D, Bryant PJ (Aug 1998). «DLG3, the gene encoding human neuroendocrine Dlg (NE-Dlg), is located within the 1.8-Mb dystonia-parkinsonism region at Xq13.1». Genomics 49 (2): 310-3. PMID 9598320. doi:10.1006/geno.1998.5243.

[6] «Entrez Gene: DLG3 Discs, large homolog 3 (neuroendocrine-dlg, Drosophila)».

[7] «DLG3 Gene - GeneCards». www.genecards.org. Consultado el 14 de octubre de 2026.

[8] He, Yun-Yan; Luo, Sheng; Jin, Liang; Wang, Peng-Yu; Xu, Jie; Jiao, Hong-Liang; Yan, Hong-Jun; Wang, Yao et al. (5 de enero de 2024). «DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation». Frontiers in Molecular Neuroscience (en english) (Frontiers) 16. ISSN 1662-5099. doi:10.3389/fnmol.2023.1290919. Consultado el 14 de octubre de 2026.

[pmid9188857-9] Makino K, Kuwahara H, Masuko N, Nishiyama Y, Morisaki T, Sasaki J, Nakao M, Kuwano A, Nakata M, Ushio Y, Saya H (May 1997). «Cloning and characterization of NE-dlg: a novel human homolog of the Drosophila discs large (dlg) tumor suppressor protein interacts with the APC protein». Oncogene 14 (20): 2425-33. PMID 9188857. doi:10.1038/sj.onc.1201087.

[pmid11937501-10] 1 2 3 4 Lim IA, Hall DD, Hell JW (Jun 2002). «Selectivity and promiscuity of the first and second PDZ domains of PSD-95 and synapse-associated protein 102». J. Biol. Chem. 277 (24): 21697-711. PMID 11937501. doi:10.1074/jbc.M112339200.

[pmid10026200-11] Masuko N, Makino K, Kuwahara H, Fukunaga K, Sudo T, Araki N, Yamamoto H, Yamada Y, Miyamoto E, Saya H (Feb 1999). «Interaction of NE-dlg/SAP102, a neuronal and endocrine tissue-specific membrane-associated guanylate kinase protein, with calmodulin and PSD-95/SAP90. A possible regulatory role in molecular clustering at synaptic sites». J. Biol. Chem. 274 (9): 5782-90. PMID 10026200. doi:10.1074/jbc.274.9.5782.

[pmid12738960-12] 1 2 3 Sans N, Prybylowski K, Petralia RS, Chang K, Wang YX, Racca C, Vicini S, Wenthold RJ (Jun 2003). «NMDA receptor trafficking through an interaction between PDZ proteins and the exocyst complex». Nat. Cell Biol. 5 (6): 520-30. PMID 12738960. doi:10.1038/ncb990.

[pmid9278515-13] 1 2 Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, Takai Y, Rosahl TW, Südhof TC (Sep 1997). «Binding of neuroligins to PSD-95». Science 277 (5331): 1511-5. PMID 9278515. doi:10.1126/science.277.5331.1511.

[pmid11997254-14] Inanobe A, Fujita A, Ito M, Tomoike H, Inageda K, Kurachi Y (Jun 2002). «Inward rectifier K+ channel Kir2.3 is localized at the postsynaptic membrane of excitatory synapses». Am. J. Physiol., Cell Physiol. 282 (6): C1396-403. PMID 11997254. doi:10.1152/ajpcell.00615.2001.

[pmid15024025-15] Leonoudakis D, Conti LR, Anderson S, Radeke CM, McGuire LM, Adams ME, Froehner SC, Yates JR, Vandenberg CA (May 2004). «Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins». J. Biol. Chem. 279 (21): 22331-46. PMID 15024025. doi:10.1074/jbc.M400285200.

[pmid12576483-16] Seabold GK, Burette A, Lim IA, Weinberg RJ, Hell JW (Apr 2003). «Interaction of the tyrosine kinase Pyk2 with the N-methyl-D-aspartate receptor complex via the Src homology 3 domains of PSD-95 and SAP102». J. Biol. Chem. 278 (17): 15040-8. PMID 12576483. doi:10.1074/jbc.M212825200.

[pmid9581761-17] Kim JH, Liao D, Lau LF, Huganir RL (Apr 1998). «SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family». Neuron 20 (4): 683-91. PMID 9581761. doi:10.1016/S0896-6273(00)81008-9.