SACS - sacsin molecular chaperone-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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26278 SACS

基因描述

Type	Description
Definition	sacsin molecular chaperone

研究结论

Date	Results	Publications
2020-10-10 12:59:00	A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.	31701440
2019-10-05 10:45:00	Loss of SACSIN expression is associated with autosomal recessive spastic ataxia of the Charlevoix-Saguenay.	30332300
2019-08-31 10:10:00	novel pathogenic mutation of the SACS gene was discovered	30835349
2019-06-29 10:20:00	The c.5236dupA (p.T1746fs) and c.13085T to G (p.I4362R) mutations of the SACS gene probably underlie spastic ataxia of Charlevoix-Saguenay	30098244
2019-06-22 12:45:00	Novel homozygous variants in ATCAY, MCOLN1, and SACS in a complex movement disorder in five consanguineous Pakistani families.	29449188

名称对应

Type	IDs
Synonymous	ARSACS, DNAJC29, PPP1R138, SPAX6
Gene	UniProtKB-ID: SACS_HUMAN UniprotKB: Q9NZJ4 UniParc: UPI00001354DC, UPI000047039D EMBL: AL157766, BX640926, AF193556, CR749427, AK090599, AB018273 Ensembl: ENSG00000151835 KO: hsa:26278
Nucleutide sequences	EMBL-CDS: CAH18265.1, BAC03486.1, BAA34450.1, CAE45964.1, AAF31262.1 Ensembl_TRS: ENST00000382292, ENST00000402364
Protein sequencees	Ensembl_PRO: ENSP00000371729, ENSP00000385844 RefSeq: XP_024305105.1, NP_055178.3, XP_005266395.1, NP_001264984.1, XP_016876028.1, XP_011533341.1
Others	UniRef100: UniRef100_Q9NZJ4 UniRef90: UniRef90_Q9NZJ4 UniRef50: UniRef50_Q9NZJ4 UniGene: Hs.159492 CCDS: CCDS9300.2

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
31701440	A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases. J Mol Neurosci Georgia Xiromerisiou , Katerina Dadouli , Chrysoula Marogianni , Antonios Provatas , Panagiotis Ntellas , Dimitrios Rikos , Pantelis Stathis , Despina Georgouli , Gedeon Loules , Maria Zamanakou , Georgios M Hadjigeorgiou	2020-01-01	-
31091453	PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. Cell Rep Adnan Shami Shah , Alex G Batrouni , Dongsung Kim , Amith Punyala , Wendy Cao , Chun Han , Michael L Goldberg , Marcus B Smolka , Jeremy M Baskin	2019-05-14	-
30835349	[Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi Qian Zhang , Huanzheng Li , Chong Chen , Zhaotang Luan , Xueqin Xu , Shaohua Tang	2019-03-10	-
30332300	Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics. FASEB J. Benoit J Gentil , Gia-Thanh Lai , Marie Menade , Roxanne LariviÃ¨re , Sandra Minotti , Kalle Gehring , J-Paul Chapple , Bernard Brais , Heather D Durham	2019-02-01	-
30460542	SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. Hum Genet Katharina Vill , Wolfgang MÃ¼ller-Felber , Dieter GlÃ¤ser , Marius Kuhn , Veronika Teusch , Herbert Schreiber , Joachim Weis , JÃ¶rg Klepper , Anja Schirmacher , Astrid Blaschek , Manuela Wiessner , Tim M Strom , Bianca DrÃ¤ger , Kristina Hofmeister-Kiltz , Moritz Tacke , Lucia Gerstl , Peter Young , Rita Horvath , Jan Senderek	2018-12-01	-
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-
29945973	Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations. J Biol Chem Marie MÃ©nade , Guennadi Kozlov , Jean-FranÃ§ois Trempe , Harshit Pande , Solomon Shenker , Sihara Wickremasinghe , Xinlu Li , Hamed Hojjat , Marie-JosÃ©e Dicaire , Bernard Brais , Peter S McPherson , Michael J H Wong , Jason C Young , Kalle Gehring	2018-08-17	-
30098244	[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi Shirong Li , Yongping Chen , Xiaoqin Yuan , Qianqian Wei , Ruwei Ou , Xiaojing Gu , Huifang Shang	2018-08-10	-
29449188	Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders. Parkinsonism Relat. Disord. Humera Manzoor , Norbert BrÃ¼ggemann , Hafiz Muhammad Jafar Hussain , Tobias BÃ¤umer , Frauke Hinrichs , Muhammad Wajid , Alexander MÃ¼nchau , Sadaf Naz , Katja Lohmann	2018-06-01	-
29348145	FBXL13 directs the proteolysis of CEP192 to regulate centrosome homeostasis and cell migration. EMBO Rep. Ella Fung , Carmen Richter , Hong-Bin Yang , Isabell SchÃ¤ffer , Roman Fischer , Benedikt M Kessler , Florian Bassermann , Vincenzo D'Angiolella	2018-03-01	-

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