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[ویرایش]

↑ ^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[ویرایش]

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.
Lerner Terry J (September 1995). "Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium". Cell. 82 (6): 949–57. doi:10.1016/0092-8674(95)90274-0. PMID 7553855. S2CID 17286972.
Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH (March 1995). "Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)". American Journal of Human Genetics. 56 (3): 663–8. PMC 1801154. PMID 7887420.
Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA (December 1996). "A model for Batten disease protein CLN3: functional implications from homology and mutations". FEBS Letters. 399 (1–2): 75–7. doi:10.1016/S0014-5793(96)01290-2. PMID 8980123. S2CID 4952651.
Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC (December 1996). "Rapid diagnostic test for the major mutation underlying Batten disease". Journal of Medical Genetics. 33 (12): 1041–2. doi:10.1136/jmg.33.12.1041. PMC 1050819. PMID 9004140.
Mitchison HM, Munroe PB, O'Rawe AM, Taschner PE, de Vos N, Kremmidiotis G, Lensink I, Munk AC, D'Arigo KL, Anderson JW, Lerner TJ, Moyzis RK, Callen DF, Breuning MH, Doggett NA, Gardiner RM, Mole SE (March 1997). "Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3". Genomics. 40 (2): 346–50. doi:10.1006/geno.1996.4576. PMID 9119403.
Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE (August 1997). "Spectrum of mutations in the Batten disease gene, CLN3". American Journal of Human Genetics. 61 (2): 310–6. doi:10.1086/514846. PMC 1715900. PMID 9311735.
Järvelä I, Sainio M, Rantamäki T, Olkkonen VM, Carpén O, Peltonen L, Jalanko A (January 1998). "Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease". Human Molecular Genetics. 7 (1): 85–90. doi:10.1093/hmg/7.1.85. PMID 9384607.
Wisniewski KE, Zhong N, Kaczmarski W, Kaczmarski A, Kida E, Brown WT, Schwarz KO, Lazzarini AM, Rubin AJ, Stenroos ES, Johnson WG, Wisniewski TM (January 1998). "Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis". Annals of Neurology. 43 (1): 106–10. doi:10.1002/ana.410430118. PMID 9450775. S2CID 41471357.
Zhong N, Wisniewski KE, Kaczmarski AL, Ju W, Xu WM, Xu WW, Mclendon L, Liu B, Kaczmarski W, Sklower Brooks SS, Brown WT (January 1998). "Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene". Human Genetics. 102 (1): 57–62. doi:10.1007/s004390050654. PMID 9490299. S2CID 27343676.
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.
Haskell RE, Derksen TA, Davidson BL (April 1999). "Intracellular trafficking of the JNCL protein CLN3". Molecular Genetics and Metabolism. 66 (4): 253–60. doi:10.1006/mgme.1999.2802. PMID 10191111.
Kaczmarski W, Wisniewski KE, Golabek A, Kaczmarski A, Kida E, Michalewski M (April 1999). "Studies of membrane association of CLN3 protein". Molecular Genetics and Metabolism. 66 (4): 261–4. doi:10.1006/mgme.1999.2833. PMID 10191112.
Golabek AA, Kaczmarski W, Kida E, Kaczmarski A, Michalewski MP, Wisniewski KE (April 1999). "Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro". Molecular Genetics and Metabolism. 66 (4): 277–82. doi:10.1006/mgme.1999.2836. PMID 10191115.
Margraf LR, Boriack RL, Routheut AA, Cuppen I, Alhilali L, Bennett CJ, Bennett MJ (April 1999). "Tissue expression and subcellular localization of CLN3, the Batten disease protein". Molecular Genetics and Metabolism. 66 (4): 283–9. doi:10.1006/mgme.1999.2830. PMID 10191116.
Järvelä I, Lehtovirta M, Tikkanen R, Kyttälä A, Jalanko A (June 1999). "Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)". Human Molecular Genetics. 8 (6): 1091–8. doi:10.1093/hmg/8.6.1091. PMID 10332042.
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.
Pane MA, Puranam KL, Boustany RM (October 1999). "Expression of cln3 in human NT2 neuronal precursor cells and neonatal rat brain". Pediatric Research. 46 (4): 367–74. doi:10.1203/00006450-199910000-00003. PMID 10509355.
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.

[۱]

[۲]

[۳]

[۴]

[۵]

[۶]