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4905 NSF

4905

NSF

N-ethylmaleimide sensitive factor, vesicle fusing ATPase

protein-coding

Homo sapiens

基因描述

Type Description
Definition N-ethylmaleimide sensitive factor, vesicle fusing ATPase

研究结论

Date Results Publications
2020-09-26 13:04:00 De novo NSF mutations cause early infantile epileptic encephalopathy. 31675180
2018-05-19 10:41:00 A large copy number variant (CNV) that encompasses part of the NSF gene contributes to cocaine dependence. 27498889
2017-05-13 21:42:00 NSF deficiency in HeLa cells barely affected cell viability, anterograde trafficking of vesicular stomatitis virus glycoprotein G and transferrin endocytosis. 27995606
2013-11-02 12:02:00 a processive helicase-like mechanism for NSF in which approximately 1 residue is unwound for every hydrolyzed ATP molecule. 23775070
2012-04-28 11:06:00 Single and multiple-marker analyses revealed a strong association between cocaine dependence and the NSF gene. 21426264

名称对应

Type IDs
Synonymous SEC18, SKD2
Gene
UniProtKB-ID: NSF_HUMAN, A0A384MTI6_HUMAN
UniprotKB: P46459, A0A384MTI6
UniParc: UPI00017A6DFD, UPI000006D238
EMBL: BC030613, AC217769, GQ891288, AF135168, AC138688, U03985, AC217778, AC004098, AF102846, AC138645, AK294001, AK290204, AC217780
Ensembl: ENSG00000073969, ENSG00000276262, ENSG00000278174
KO: hsa:4905
Nucleutide sequences
EMBL-CDS: BAG57363.1, AAA17411.1, AAF04745.2, BAF82893.1, AAF70545.1, AAH30613.1, ADO22150.1
Ensembl_TRS: ENST00000611398, ENST00000620290, ENST00000398238
Protein sequencees
Ensembl_PRO: ENSP00000478614, ENSP00000481714, ENSP00000381293
RefSeq: NP_006169.2
Others
UniRef100: UniRef100_P46459
UniRef90: UniRef90_Q9QUL6
UniRef50: UniRef50_Q9QUL6
UniGene: Hs.431279
CCDS: CCDS42354.1

全选

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研究热度

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