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
	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.

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

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

منابع

↑ 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.

برای مطالعهٔ بیشتر

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[refGRCm38Ensembl-1] 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.