DLG1

DLG1
ساختارهای موجود PDB جستجوی هم‌ساخت‌شناسی: PDBe RCSB فهرست شناسه‌های PDB 1PDR, 2M3M, 2OQS, 2X7Z, 3RL7, 3RL8, 3W9Y, 4AMH, 4G69
معین‌کننده‌ها
نام‌های دیگر	DLG1, DLGH1, SAP-97, SAP97, dJ1061C18.1.1, hdlg, B130052P05Rik, E-dlg/SAP97, mKIAA4187, discs large homolog 1, scribble cell polarity complex component, discs large MAGUK scaffold protein 1
شناسه‌های بیرونی	OMIM: 601014 MGI: 107231 HomoloGene: 20869 GeneCards: DLG1
موقعیت ژن (موش) کروموزوم کروموزوم ۱۶ (موش)[۱] نوار 16 B2|16 22.4 cM شروع 31,482,261 bp[۱] پایان 31,693,947 bp[۱]
الگوی گسترش RNA More reference expression data
هستی‌شناسی ژن عملکرد ملکولی • phosphatase binding • phosphoprotein phosphatase activity • transmembrane transporter binding • cytoskeletal protein binding • protein C-terminus binding • ionotropic glutamate receptor binding • kinase binding • mitogen-activated protein kinase kinase binding • guanylate kinase activity • GO:0001948، GO:0016582 پیوند پروتئینی • GO:0032947 molecular adaptor activity • protein kinase binding • L27 domain binding • ligand-gated ion channel activity • potassium channel regulator activity • cadherin binding • structural constituent of postsynaptic density ترکیبات سلولی • سیتوپلاسم • سیتوزول • postsynaptic membrane • membrane • cell-cell junction • bicellular tight junction • گره رانویه • سیناپس • perinuclear region of cytoplasm • cytoplasmic side of plasma membrane • ریزلوله • هسته یاخته • cell projection membrane • لیپید رفت • ionotropic glutamate receptor complex • extracellular exosome • دستگاه گلژی • lateral plasma membrane • صفحات بینابینی • تماس عصبی-ماهیچه‌ای • myelin sheath abaxonal region • lateral loop • endoplasmic reticulum membrane • MPP7-DLG1-LIN7 complex • سارکولما • GO:0097483، GO:0097481 postsynaptic density • پیوند میان‌یاخته‌ای • basolateral plasma membrane • پوسته یاخته • شبکه آندوپلاسمی • immunological synapse • غشای پایه • apical plasma membrane • neuron projection • postsynaptic density membrane • glutamatergic synapse فرایند زیستی • embryonic skeletal system morphogenesis • ureteric bud development • positive regulation of actin filament polymerization • positive regulation of potassium ion transport • negative regulation of p38MAPK cascade • amyloid precursor protein metabolic process • tissue morphogenesis • reproductive structure development • membrane raft organization • hard palate development • endothelial cell proliferation • smooth muscle tissue development • negative regulation of epithelial cell proliferation • regulation of sodium ion transmembrane transport • astral microtubule organization • actin filament organization • mitotic cell cycle checkpoint signaling • receptor clustering • establishment or maintenance of cell polarity • negative regulation of T cell proliferation • branching involved in ureteric bud morphogenesis • regulation of myelination • cortical microtubule organization • establishment or maintenance of epithelial cell apical/basal polarity • GO:0022415 viral process • T cell cytokine production • T cell activation • انواع حرکات در لوله گوارش • receptor localization to synapse • negative regulation of protein kinase B signaling • regulation of NIK/NF-kappaB signaling • GO:1901227 negative regulation of transcription by RNA polymerase II • جنین‌شناسی دستگاه عصبی مرکزی • regulation of cell shape • establishment of centrosome localization • immunological synapse formation • GO:0033109 cortical actin cytoskeleton organization • GO:0034613 protein localization • lens development in camera-type eye • bicellular tight junction assembly • positive regulation of cell population proliferation • negative regulation of ERK1 and ERK2 cascade • activation of protein kinase activity • negative regulation of mitotic cell cycle • regulation of membrane potential • protein localization to plasma membrane • GDP metabolic process • ion transmembrane transport • GO:0016576 protein dephosphorylation • GMP metabolic process • chemical synaptic transmission • regulation of ventricular cardiac muscle cell action potential • regulation of potassium ion import • regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization • regulation of potassium ion export across plasma membrane • MAPK cascade • cell-cell adhesion • maintenance of postsynaptic density structure • neurotransmitter receptor localization to postsynaptic specialization membrane • positive regulation of protein localization to plasma membrane • regulation of NMDA receptor activity منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
گونه‌ها	انسان	موش
Entrez	1739	13383
آنسامبل	ENSG00000075711	ENSMUSG00000022770
یونی‌پروت	Q12959	Q811D0
RefSeq (mRNA)	NM_001204386، NM_001204387، NM_001204388، NM_001290983، NM_004087، XM_005269289، XM_011512502، XM_017005800، XM_017005801، XM_017005802، XM_017005803، XM_017005811، XM_017005821، XM_017005823، NM_001363865، NM_001366203، NM_001366204، NM_001366205، NM_001366206، NM_001366207، NM_001366208، NM_001366209، NM_001366210، NM_001366211، NM_001366212، NM_001366213، NM_001366214، NM_001366215، NM_001366216، NM_001366217، NM_001366218، NM_001366219، NM_001366220، NM_001366221، NM_001366222، NR_158764، NR_158765، NR_158766، NR_158767، XM_047447592، XM_047447593، XM_047447594، XR_007095642، XR_007095643 NM_001098424، NM_001204386، NM_001204387، NM_001204388، NM_001290983، NM_004087، XM_005269289، XM_011512502، XM_017005800، XM_017005801، XM_017005802، XM_017005803، XM_017005811، XM_017005821، XM_017005823، NM_001363865، NM_001366203، NM_001366204، NM_001366205، NM_001366206، NM_001366207، NM_001366208، NM_001366209، NM_001366210، NM_001366211، NM_001366212، NM_001366213، NM_001366214، NM_001366215، NM_001366216، NM_001366217، NM_001366218، NM_001366219، NM_001366220، NM_001366221، NM_001366222، NR_158764، NR_158765، NR_158766، NR_158767، XM_047447592، XM_047447593، XM_047447594، XR_007095642، XR_007095643	NM_001252434، NM_001252435، NM_001252436، NM_007862، NR_045516، XM_006521761، XM_006521762، XM_006521763، XM_006521764، XM_006521765، XM_006521766، XM_006521767، XM_006521768، XM_006521769، XM_006521770، XM_006521771، XM_006521772، XM_006521773، XM_017316865، XM_017316867، XM_017316869، XM_017316872، NM_001357281، NM_001357282، XM_030248959، XM_030248960، XM_030248961، XM_030248962، XM_036159767، XM_036159768، XM_036159769، XM_036159770، XR_004939156، XR_004939157، XR_004939158، XR_004939159 NM_001252433، NM_001252434، NM_001252435، NM_001252436، NM_007862، NR_045516، XM_006521761، XM_006521762، XM_006521763، XM_006521764، XM_006521765، XM_006521766، XM_006521767، XM_006521768، XM_006521769، XM_006521770، XM_006521771، XM_006521772، XM_006521773، XM_017316865، XM_017316867، XM_017316869، XM_017316872، NM_001357281، NM_001357282، XM_030248959، XM_030248960، XM_030248961، XM_030248962، XM_036159767، XM_036159768، XM_036159769، XM_036159770، XR_004939156، XR_004939157، XR_004939158، XR_004939159
RefSeq (پروتئین)	NP_001191315، NP_001191316، NP_001191317، NP_001277912، NP_004078، XP_005269346، XP_011510804، XP_011510805، XP_011510807، XP_011510808، XP_011510811، XP_016861289، XP_016861290، XP_016861291، XP_016861292، XP_016861293، XP_016861294، XP_016861295، XP_016861296، XP_016861297، XP_016861298، XP_016861299، XP_016861300، XP_016861301، XP_016861302، XP_016861303، XP_016861304، XP_016861305، XP_016861306، XP_016861307، XP_016861308، XP_016861309، XP_016861310، XP_016861311، XP_016861312، XP_016861313، NP_001350794، NP_001353132، NP_001353133، NP_001353134، NP_001353135، NP_001353136، NP_001353137، NP_001353138، NP_001353139، NP_001353140، NP_001353141، NP_001353142، NP_001353143، NP_001353144، NP_001353145، NP_001353146، NP_001353147، NP_001353148، NP_001353149، NP_001353150، NP_001353151 NP_001091894، NP_001191315، NP_001191316، NP_001191317، NP_001277912، NP_004078، XP_005269346، XP_011510804، XP_011510805، XP_011510807، XP_011510808، XP_011510811، XP_016861289، XP_016861290، XP_016861291، XP_016861292، XP_016861293، XP_016861294، XP_016861295، XP_016861296، XP_016861297، XP_016861298، XP_016861299، XP_016861300، XP_016861301، XP_016861302، XP_016861303، XP_016861304، XP_016861305، XP_016861306، XP_016861307، XP_016861308، XP_016861309، XP_016861310، XP_016861311، XP_016861312، XP_016861313، NP_001350794، NP_001353132، NP_001353133، NP_001353134، NP_001353135، NP_001353136، NP_001353137، NP_001353138، NP_001353139، NP_001353140، NP_001353141، NP_001353142، NP_001353143، NP_001353144، NP_001353145، NP_001353146، NP_001353147، NP_001353148، NP_001353149، NP_001353150، NP_001353151	NP_001239363، NP_001239364، NP_001239365، NP_031888، XP_006521824، XP_006521825، XP_006521826، XP_006521827، XP_006521828، XP_006521829، XP_006521830، XP_006521831، XP_006521832، XP_006521833، XP_006521834، XP_006521835، XP_006521836، XP_017172354، XP_017172356، XP_017172358، XP_017172361، NP_001344210، NP_001344211، XP_030104819، XP_030104820، XP_030104821، XP_030104822، XP_036015660، XP_036015661، XP_036015662، XP_036015663 NP_001239362، NP_001239363، NP_001239364، NP_001239365، NP_031888، XP_006521824، XP_006521825، XP_006521826، XP_006521827، XP_006521828، XP_006521829، XP_006521830، XP_006521831، XP_006521832، XP_006521833، XP_006521834، XP_006521835، XP_006521836، XP_017172354، XP_017172356، XP_017172358، XP_017172361، NP_001344210، NP_001344211، XP_030104819، XP_030104820، XP_030104821، XP_030104822، XP_036015660، XP_036015661، XP_036015662، XP_036015663
موقعیت (UCSC)	ن/م	Chr : 31.48 – 31.69 Mb
جستجوی PubMed	[۲]	[۳]
ویکی‌داده
مشاهده/ویرایش انسان مشاهده/ویرایش موش

هومولوگ بزرگ ۱ دیسک (انگلیسی: Discs large homolog 1) که با نام پروتئین شماره ۹۷ مرتبط با سیناپس یا SAP97 هم شناخته می‌شود، یک پروتئین است که در انسان توسط ژن «SAP97» کُدگذاری می‌شود.

این پروتئین در تمامی سلول‌های بافت پوششی بدن انسان و به‌خصوص در مغز و کلیه بیان می‌شود.^[۴] در مغز، این مولکول در انتقال مواد از شبکه آندوپلاسمی به پوسته یاخته از طریق کانال یونی دریچه-لیگاندی نقش دارد.^[۵] از طرفی، افزایش تولید این پروتئین در پستانداران سبب افزایش قدرت سیناپسی می‌گردد.^[۶]

در موش‌ها اگر این پروتئین موجود نباشد، لب‌شکری و نارسایی کلیه حاصل می‌شود.^[۷][۸]

در انسان، جهش در این ژن سبب بروز بیماری کرون می‌گردد.^[۹]

منابع

1. GRCm38: Ensembl release 89: ENSMUSG00000022770 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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5. Sans N, Racca C, Petralia RS, Wang YX, McCallum J, Wenthold RJ (Oct 2001). "Synapse-associated protein 97 selectively associates with a subset of AMPA receptors early in their biosynthetic pathway". The Journal of Neuroscience. 21 (19): 7506–16. PMID 11567040.
6. Rumbaugh G, Sia GM, Garner CC, Huganir RL (Jun 2003). "Synapse-associated protein-97 isoform-specific regulation of surface AMPA receptors and synaptic function in cultured neurons". The Journal of Neuroscience. 23 (11): 4567–76. PMID 12805297.
7. Caruana G, Bernstein A (Mar 2001). "Craniofacial dysmorphogenesis including cleft palate in mice with an insertional mutation in the discs large gene". Molecular and Cellular Biology. 21 (5): 1475–83. doi:10.1128/MCB.21.5.1475-1483.2001. PMC 86693. PMID 11238884.
8. Mahoney ZX, Sammut B, Xavier RJ, Cunningham J, Go G, Brim KL, Stappenbeck TS, Miner JH, Swat W (Dec 2006). "Discs-large homolog 1 regulates smooth muscle orientation in the mouse ureter". Proceedings of the National Academy of Sciences of the United States of America. 103 (52): 19872–7. doi:10.1073/pnas.0609326103. PMC 1750896. PMID 17172448.
9. Xu S, Zhou F, Tao J, Song L, Ng SC, Wang X, Chen L, Yi F, Ran Z, Zhou R, Xia B (2014). "Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study". PLOS ONE. 9 (6): e99807. doi:10.1371/journal.pone.0099807. PMC 4061034. PMID 24937328.

• مشارکت‌کنندگان ویکی‌پدیا. «DLG1». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۳۰ دسامبر ۲۰۱۸.

برای مطالعهٔ بیشتر

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