CLN3 - CLN3 lysosomal/endosomal transmembrane protein, battenin-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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1201 CLN3

基因描述

Type	Description
Definition	CLN3 lysosomal/endosomal transmembrane protein, battenin

研究结论

Date	Results	Publications
2021-01-23 13:01:00	Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3.	32641494
2020-12-12 13:22:00	Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium.	32592935
2020-09-19 16:23:00	Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome.	31025705
2020-09-12 16:05:00	Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.	31888773
2020-06-20 12:04:00	Sine the discovery of juvenile Batten disease, many discoveries have been made relevant to the CLN3 gene, its protein, regulation or dysfunction. However, the function of CLN3 protein remains elusive and many questions remain as to why, CLN3 gene defects adversely affect endosomal-lysosomal homeostasis, proteome, lipidome, trafficking, maturation, and recycling activities. [review]	31568712

名称对应

Type	IDs
Synonymous	BTN1, BTS, JNCL
Gene	UniProtKB-ID: CLN3_HUMAN, Q2TA70_HUMAN, A0A024QZB8_HUMAN, B4DFF3_HUMAN, B4DMY6_HUMAN UniprotKB: Q13286, Q2TA70, A0A024QZB8, B4DFF3, B4DMY6 UniParc: UPI000002A6B7, UPI00006623E9, UPI00017A81C0, UPI000059D349, UPI000002A6B4, UPI0000EE8165, UPI00000000ED, UPI0000072108, UPI000002A6B5, UPI000002A6B6 EMBL: AC002425, AF077958, AF077956, AF077971, AF077961, AF077966, AF015598, BC004433, CH471279, AK297690, BC111068, AK294070, AF077972, AF077963, AF077965, AF077962, AF077959, X99832, AF077957, AK313002, AF077960, AK302027, AF078169, BC002394, AC138894, AF015593, U32680, AC002544 Ensembl: ENSG00000261832, ENSG00000188603 KO: hsa:1201
Nucleutide sequences	EMBL-CDS: BAG35838.1, AAD51487.1, AAD51493.1, AAD01555.1, EAW52281.1, AAD48543.1, AAC27430.1, AAD51484.1, CAA68148.1, BAG63425.1, AAD51480.1, AAD51494.1, AAD51488.1, AAD51479.1, AAH02394.1, AAH04433.1, AAD51481.1, AAD51482.1, AAB51075.1, AAD51485.1, AAD51478.1, AAD01560.1, AAD51483.1, EAW52286.1, AAC05337.1, AAI11069.1, EAW52298.1, EAW52284.1, EAW52285.1, BAG57414.1, BAG60048.1, EAW52293.1 Gene_ORFName: hCG_1745226, hCG_1745226, hCG_1745226 Ensembl_TRS: ENST00000569030, ENST00000565316, ENST00000359984, ENST00000333496, ENST00000355477, ENST00000569430, ENST00000360019, ENST00000357806, ENST00000636147, ENST00000568224, ENST00000357857, ENST00000567963
Protein sequencees	Ensembl_PRO: ENSP00000454229, ENSP00000353073, ENSP00000353116, ENSP00000456117, ENSP00000347660, ENSP00000350457, ENSP00000490105, ENSP00000454680, ENSP00000329171, ENSP00000454253, ENSP00000455387, ENSP00000350523 RefSeq: NP_001273034.1, NP_001035897.1, NP_001273033.1, NP_000077.1, NP_001273039.1, NP_001273038.1
Others	UniRef100: UniRef100_Q13286, UniRef100_B4DMY6, UniRef100_Q2TA70 UniRef90: UniRef90_F6YTF2, UniRef90_Q13286, UniRef90_Q60HH0 UniRef50: UniRef50_Q13286, UniRef50_Q13286-3, UniRef50_A0A1B0GV71 UniGene: Hs.534667 CCDS: CCDS10632.1, CCDS73855.1

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mRNA

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Pubmed编号	文献信息	发表日期	相关基因
33144569	A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export. Nat Commun Dick J H van den Boomen , Agata Sienkiewicz , Ilana Berlin , Marlieke L M Jongsma , Daphne M van Elsland , J Paul Luzio , Jacques J C Neefjes , Paul J Lehner	2020-11-03	-
32592935	Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium. Biochim Biophys Acta Mol Basis Dis Yu Zhong , Kabhilan Mohan , Jinpeng Liu , Ahmad Al-Attar , Penghui Lin , Robert M Flight , Qiushi Sun , Marc O Warmoes , Rahul R Deshpande , Huijuan Liu , Kyung Sik Jung , Mihail I Mitov , Nianwei Lin , D Allan Butterfield , Shuyan Lu , Jinze Liu , Hunter N B Moseley , Teresa W M Fan , Mark E Kleinman , Qing Jun Wang	2020-10-01	-
32641494	Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3. J Biol Chem Carolin Seifert , Stephan Storch , Robert BÃ¤hring	2020-08-21	-
32814053	Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Cell Rep Christian Haenig , Nir Atias , Alexander K Taylor , Arnon Mazza , Martin H Schaefer , Jenny Russ , Sean-Patrick Riechers , Shushant Jain , Maura Coughlin , Jean-Fred Fontaine , Brian D Freibaum , Lydia Brusendorf , Martina Zenkner , Pablo Porras , Martin Stroedicke , Sigrid Schnoegl , Kristin Arnsburg , Annett Boeddrich , Lucia Pigazzini , Peter Heutink , J Paul Taylor , Janine Kirstein , Miguel A Andrade-Navarro , Roded Sharan , Erich E Wanker	2020-08-18	-
31888773	Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis. Acta Neuropathol Commun Gemma Gomez-Giro , Jonathan Arias-Fuenzalida , Javier Jarazo , Dagmar Zeuschner , Muhammad Ali , Nina Possemis , Silvia Bolognin , Rashi Halder , Christian JÃ¤ger , Willemijn F E Kuper , Peter M van Hasselt , Holm Zaehres , Antonio Del Sol , Herman van der Putten , Hans R SchÃ¶ler , Jens C Schwamborn	2020-12-30	-
31568712	The CLN3 gene and protein: What we know. Mol Genet Genomic Med Myriam Mirza , Anna Vainshtein , Alberto DiRonza , Uma Chandrachud , Luke J Haslett , Michela Palmieri , Stephan Storch , Janos Groh , Niv Dobzinski , Gennaro Napolitano , Carolin Schmidtke , Danielle M Kerkovich	2019-12-01	-
31025705	Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome. J Inherit Metab Dis Abhilash P Appu , Maria B Bagh , Tamal Sadhukhan , Avisek Mondal , Sydney Casey , Anil B Mukherjee	2019-09-01	-
30851897	Overexpression of CLN3 contributes to tumour progression and predicts poor prognosis in hepatocellular carcinoma. Surg Oncol Yu Xu , Huawei Wang , Yujian Zeng , Yan Tian , Zongwen Shen , Zhenrong Xie , Fengrong Chen , Liang Sun , Ruo Shu , Peng Peng Li , Cheng Chen , Juehua Yu , Kunhua Wang , Huayou Luo	2019-03-01	-
30446867	Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3). Doc Ophthalmol Fred K Chen , Xiao Zhang , Jonathan Eintracht , Dan Zhang , Sukanya Arunachalam , Jennifer A Thompson , Enid Chelva , Dominic Mallon , Shang-Chih Chen , Terri McLaren , Tina Lamey , John De Roach , Samuel McLenachan	2019-02-01	-
29049447	A Case of Unexpected Adult-Onset Neurologic Decline in CLN3-Associated Retinal Degeneration. JAMA Ophthalmol Willemijn F E Kuper , Claudia van Alfen , Linda van Eck , Brigitte T A van den Broek , Albert Huisman , Maria M van Genderen , Peter M van Hasselt	2017-12-01	-

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