CLN3

CLN3
معین‌کننده‌ها
نام‌های دیگر	CLN3, BTS, JNCL, ceroid-lipofuscinosis, neuronal 3, battenin, BTN1, CLN3 lysosomal/endosomal transmembrane protein, battenin
شناسه‌های بیرونی	OMIM: 607042 MGI: 107537 HomoloGene: 37259 GeneCards: CLN3
موقعیت ژن (موش)
کروموزوم	کروموزوم ۷ (موش)
پایان	126,585,817 bp
الگوی گسترش RNA
	; ;
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• unfolded protein binding; • GO:0001948، GO:0016582 پیوند پروتئینی;
ترکیبات سلولی	• سیتوپلاسم; • integral component of membrane; • اندوزوم; • late endosome; • دستگاه گلژی; • membrane; • synaptic vesicle; • Golgi membrane; • پوسته یاخته; • autophagosome; • lysosomal membrane; • integral component of endoplasmic reticulum membrane; • trans-Golgi network; • early endosome; • شبکه آندوپلاسمی; • میتوکندری; • حفره غشایی; • لیپید رفت; • neuron projection; • Golgi stack; • کافنده‌تن; • هسته یاخته;
فرایند زیستی	• GO:1904089 negative regulation of neuron apoptotic process; • negative regulation of proteolysis; • lysosomal lumen acidification; • GO:0048553 negative regulation of catalytic activity; • galactosylceramide metabolic process; • associative learning; • regulation of cytosolic calcium ion concentration; • neuromuscular process controlling balance; • ceramide metabolic process; • vesicle transport along microtubule; • cellular amino acid metabolic process; • neurotransmitter metabolic process; • protein processing; • negative regulation of apoptotic process; • receptor-mediated endocytosis; • lysosomal lumen pH elevation; • globoside metabolic process; • glucosylceramide metabolic process; • GO:0000046 autophagosome maturation; • GO:0044257 protein catabolic process; • ionotropic glutamate receptor signaling pathway; • پتانسیل عمل; • membrane organization; • lysosome organization; • macroautophagy; • amyloid precursor protein catabolic process; • sphingomyelin metabolic process; • vacuolar transport; • GO:0015915 transport; • regulation of intracellular pH;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	1201
	12752
	ENSG00000188603
	ENSMUSG00000030720
	Q13286
	Q61124
	NM_000086، NM_001042432، NM_001286104، NM_001286105، NM_001286109 NM_001286110، NM_000086، NM_001042432، NM_001286104، NM_001286105، NM_001286109
	NM_009907، XM_006507288، XM_006507289، XM_006507292، XM_006507293، XR_378213، XM_017321963، NM_001329789، XM_030242057، XM_030242058، XM_030242059 NM_001146311، NM_009907، XM_006507288، XM_006507289، XM_006507292، XM_006507293، XR_378213، XM_017321963، NM_001329789، XM_030242057، XM_030242058، XM_030242059
	NP_001035897، NP_001273033، NP_001273034، NP_001273038، NP_001273039 NP_000077، NP_001035897، NP_001273033، NP_001273034، NP_001273038، NP_001273039
	NP_001316718، NP_034037، XP_006507351، XP_006507355، XP_006507356، XP_017177452، XP_030097918، XP_036008513، XP_036008514، XP_036008515، XP_036008516، XP_036008517، XP_036008518، NP_001389644، NP_001389645، NP_001389646، NP_001389647، NP_001389648، NP_001389649، NP_001389650، NP_001389651 NP_001139783، NP_001316718، NP_034037، XP_006507351، XP_006507355، XP_006507356، XP_017177452، XP_030097918، XP_036008513، XP_036008514، XP_036008515، XP_036008516، XP_036008517، XP_036008518، NP_001389644، NP_001389645، NP_001389646، NP_001389647، NP_001389648، NP_001389649، NP_001389650، NP_001389651
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

سروئید لیپوفوشینوز نورونی ۳ (انگلیسی: Ceroid Lipofuscinosis, Neuronal 3) یا به اختصار CLN3 که گاهی به آن باتنین هم گفته می‌شود، یک پروتئین است که در انسان توسط ژن «CLN3» واقع بر بازوی کوتاه کروموزوم ۱۶ کُدگذاری می‌شود.^[۴]^[۵]

این پروتئین در عملکرد لیزوزومی دخالت دارد و نوعی پروتئین تراغشایی است که احتمالاً دارای ۱۱ حلقهٔ مارپیچی تراغشایی است.^[۶]

جهش در ژن «CLN3» سبب ایجاد یک اختلال ژنتیکی به نام بیماری باتن می‌گردد.

منابع

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000030720 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM (June 2008). "CLN3p impacts galactosylceramide transport, raft morphology, and lipid content". Pediatric Research. 63 (6): 625–31. doi:10.1203/PDR.0b013e31816fdc17. PMID 18317235.
↑ "Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)".
↑ Perland E, Bagchi S, Klaesson A, Fredriksson R (September 2017). "Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression". Open Biology. 7 (9): 170142. doi:10.1098/rsob.170142. PMC 5627054. PMID 28878041.

مشارکت‌کنندگان ویکی‌پدیا. «CLN3». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲۷ مارس ۲۰۲۱.

برای مطالعهٔ بیشتر

Dawson G, Cho S (April 2000). "Batten's disease: clues to neuronal protein catabolism in lysosomes". Journal of Neuroscience Research. 60 (2): 133–40. doi:10.1002/(SICI)1097-4547(20000415)60:2<133::AID-JNR1>3.0.CO;2-3. PMID 10740217.
Vesa J, Peltonen L (August 2002). "Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins". Current Molecular Medicine. 2 (5): 439–44. doi:10.2174/1566524023362311. PMID 12125809.
Phillips SN, Benedict JW, Weimer JM, Pearce DA (March 2005). "CLN3, the protein associated with batten disease: structure, function and localization". Journal of Neuroscience Research. 79 (5): 573–83. doi:10.1002/jnr.20367. PMID 15657902. S2CID 7952760.
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Kremmidiotis G, Lensink IL, Bilton RL, Woollatt E, Chataway TK, Sutherland GR, Callen DF (March 1999). "The Batten disease gene product (CLN3p) is a Golgi integral membrane protein". Human Molecular Genetics. 8 (3): 523–31. doi:10.1093/hmg/8.3.523. PMID 9949212.
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Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, Mason T, Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y, Xu RX, Kang HL, Mitchell S, Eichler EE, Harris PC, Venter JC, Adams MD (September 1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics. 60 (3): 295–308. doi:10.1006/geno.1999.5927. PMID 10493829.
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Phillips SN, Benedict JW, Weimer JM, Pearce DA (March 2005). "CLN3, the protein associated with batten disease: structure, function and localization". Journal of Neuroscience Research. 79 (5): 573–83. doi:10.1002/jnr.20367. PMID 15657902. S2CID 7952760.

این یک مقالهٔ خرد زیست‌شناسی مولکولی است. می‌توانید با گسترش آن به ویکی‌پدیا کمک کنید.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000030720 - 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.

[pmid18317235-4] Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM (June 2008). "CLN3p impacts galactosylceramide transport, raft morphology, and lipid content". Pediatric Research. 63 (6): 625–31. doi:10.1203/PDR.0b013e31816fdc17. PMID 18317235.

[entrez-5] "Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)".

[:1-6] Perland E, Bagchi S, Klaesson A, Fredriksson R (September 2017). "Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression". Open Biology. 7 (9): 170142. doi:10.1098/rsob.170142. PMC 5627054. PMID 28878041.

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