NALCN - sodium leak channel, non-selective-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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259232 NALCN

基因描述

Type	Description
Definition	sodium leak channel, non-selective

研究结论

Date	Results	Publications
2021-02-13 13:28:00	Structure of the human sodium leak channel NALCN.	32698188
2020-12-19 13:45:00	Structure of the human sodium leak channel NALCN in complex with FAM155A.	33203861
2020-10-24 14:06:00	Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties.	31409833
2020-08-29 12:49:00	Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.	32620897
2020-06-13 11:55:00	PRMT7-mediated NALCN inhibition provides a potential target for the development of therapeutic tools for neurological diseases	31601786

名称对应

Type	IDs
Synonymous	CLIFAHDD, CanIon, IHPRF, IHPRF1, INNFD, VGCNL1, bA430M15.1
Gene	UniProtKB-ID: NALCN_HUMAN, A0A024RE05_HUMAN UniprotKB: Q8IZF0, A0A024RE05 UniParc: UPI000004EBBD, UPI000006EEC3, UPI0000231BFF EMBL: BC028390, AE014293, CH471085, AK172752, AY141972, AL356778, BC064343, AL354891, AL138707 Ensembl: ENSG00000102452 KO: hsa:259232
Nucleutide sequences	EMBL-CDS: AAH28390.1, EAX09045.1, AAN10255.1, AAN16023.1, BAD18738.1, AAH64343.1, EAX09050.1 Gene_ORFName: hCG_1811326 Ensembl_TRS: ENST00000251127, ENST00000376200
Protein sequencees	Ensembl_PRO: ENSP00000251127, ENSP00000365373 RefSeq: NP_001337678.1, NP_001337679.1, XP_024305104.1, NP_443099.1, XP_011519369.1, XP_016876026.1, NP_001337677.1, NP_001337680.1, XP_016876025.1, XP_011519371.1
Others	UniRef100: UniRef100_Q8IZF0 UniRef90: UniRef90_Q8IZF0 UniRef50: UniRef50_Q8IZF0 UniGene: Hs.525146 CCDS: CCDS9498.1

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mRNA

Protein

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Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
33203861	Structure of the human sodium leak channel NALCN in complex with FAM155A. Nat Commun Jiongfang Xie , Meng Ke , Lizhen Xu , Shiyi Lin , Jin Huang , Jiabei Zhang , Fan Yang , Jianping Wu , Zhen Yan	2020-11-17	-
32698188	Structure of the human sodium leak channel NALCN. Nature Marc Kschonsak , Han Chow Chua , Cameron L Noland , Claudia Weidling , Thomas Clairfeuille , Oskar Ãrts Bahlke , Aishat Oluwanifemi Ameen , Zhong Rong Li , Christopher P Arthur , Claudio Ciferri , Stephan Alexander Pless , Jian Payandeh	2020-11-01	-
32620897	Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex. Nat Commun Jinhong Wie , Apoorva Bharthur , Morgan Wolfgang , Vinodh Narayanan , Keri Ramsey , C4RCD Research Group , Kimberly Aranda , Qi Zhang , Yandong Zhou , Dejian Ren	2020-07-03	-
31601786	Methylation determines the extracellular calcium sensitivity of the leak channel NALCN in hippocampal dentate granule cells. Exp Mol Med Seul-Yi Lee , Tuan Anh Vuong , Xianlan Wen , Hyeon-Ju Jeong , Hyun-Kyung So , Ilmin Kwon , Jong-Sun Kang , Hana Cho	2019-10-10	-
31409833	Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties. Sci Rep Malik Bouasse , Hathaichanok Impheng , Zoe Servant , Philippe Lory , Arnaud Monteil	2019-08-13	-
29968795	Periodic breathing in patients with NALCN mutations. J. Hum. Genet. Danielle K Bourque , David A Dyment , Ian MacLusky , Kristin D Kernohan , Care4Rare Canada Consortium , Hugh J McMillan	2018-10-01	-
30167850	Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum. Genet. Nuria C Bramswig , Aida M Bertoli-Avella , Beate Albrecht , Aida I Al Aqeel , Amal Alhashem , Nouriya Al-Sannaa , Maissa Bah , Katharina BrÃ¶hl , Christel Depienne , Nathalie Dorison , Diane Doummar , Nadja Ehmke , Hasnaa M Elbendary , Svetlana Gorokhova , Delphine HÃ©ron , Denise Horn , Kiely James , Boris Keren , Alma Kuechler , Samira Ismail , Mahmoud Y Issa , Isabelle Marey , MichÃ¨le Mayer , Jennifer McEvoy-Venneri , Andre Megarbane , Cyril Mignot , Sarar Mohamed , Caroline Nava , Nicole Philip , Cecile Ravix , Arndt Rolfs , Abdelrahim Abdrabou Sadek , Lara Segebrecht , Valentina Stanley , Camille Trautman , Stephanie Valence , Laurent Villard , Thomas Wieland , Hartmut Engels , Tim M Strom , Maha S Zaki , Joseph G Gleeson , Hermann-Josef LÃ¼decke , Peter Bauer , Dagmar Wieczorek	2018-09-01	-
29399786	Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome. Clin. Genet. A Angius , S Cossu , P Uva , M Oppo , S Onano , I Persico , G Fotia , R Atzeni , G Cuccuru , M Asunis , F Cucca , D Pruna , L Crisponi	2018-06-01	-
28133733	Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome. Clin. Genet. M Vivero , M T Cho , A Begtrup , I M Wentzensen , L Walsh , K Payne , Y A Zarate , K Bosanko , G B Schaefer , S DeBrosse , L Pollack , K Mason , K Retterer , S DeWard , J Juusola , W K Chung	2017-06-01	-
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-

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