KIF1A - kinesin family member 1A-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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547 KIF1A

基因描述

Type	Description
Definition	kinesin family member 1A

研究结论

Date	Results	Publications
2021-02-06 13:50:00	Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.	31805580
2021-02-06 13:50:00	KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.	31488895
2021-01-23 13:01:00	Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation.	32045731
2021-01-09 13:25:00	All-atom molecular dynamics simulations reveal how kinesin transits from one-head-bound to two-heads-bound state.	31589786
2020-09-26 13:07:00	Breaking of buckled microtubules is mediated by kinesins.	31983434

名称对应

Type	IDs
Synonymous	ATSV, C2orf20, HSN2C, MRD9, SPG30, UNC104
Gene	UniProtKB-ID: KIF1A_HUMAN, A0A3B3IU40_HUMAN, A0A3B3ITE5_HUMAN, A0A3B3IT28_HUMAN UniprotKB: Q12756, A0A3B3IU40, A0A3B3ITE5, A0A3B3IT28 UniParc: UPI0007DC627D, UPI0002065B81, UPI000014087F, UPI000387BDC3, UPI00017221A5, UPI000387BB66 EMBL: AC011298, X90840, U37194, BC111799, AB210029, BX537556, BC064906, AF004425, L79946, BC111780, AB209138, AB290172, AC112784, AF038173 Ensembl: ENSG00000130294 KO: hsa:547
Nucleutide sequences	EMBL-CDS: AAB97363.1, AAB04640.1, AAH64906.1, AAA80352.1, CAA62346.1, AAD02917.1, AAI11781.1, AAI11800.1, BAD92375.1, CAH56161.1, AAX93239.1, BAE06111.1, BAG06726.1 Ensembl_TRS: ENST00000650053, ENST00000404283, ENST00000649096, ENST00000498729, ENST00000648364, ENST00000649306, ENST00000648680
Protein sequencees	Ensembl_PRO: ENSP00000497824, ENSP00000438388, ENSP00000384231, ENSP00000497030, ENSP00000498196, ENSP00000497678, ENSP00000497586 RefSeq: NP_004312.2, NP_001366569.1, NP_001366579.1, NP_001366575.1, NP_001307634.1, NP_001366566.1, NP_001366580.1, NP_001366563.1, NP_001366582.1, NP_001366568.1, NP_001366561.1, NP_001366578.1, NP_001366570.1, NP_001317218.1, NP_001366577.1, NP_001366564.1, NP_001366574.1, NP_001366565.1, NP_001230937.1, NP_001366562.1, NP_001366567.1, NP_001317219.1, NP_001366571.1, NP_001366560.1
Others	UniRef100: UniRef100_Q12756, UniRef100_A0A3B3ITE5, UniRef100_A0A3B3IU40, UniRef100_A0A3B3IT28 UniRef90: UniRef90_A0A3B3ITE5, UniRef90_Q12756, UniRef90_A0A3B3IT28, UniRef90_A0A3B3IU40 UniRef50: UniRef50_Q12756, UniRef50_Q17BU3 UniGene: Hs.516802 CCDS: CCDS46561.1, CCDS58757.1

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mRNA

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Description

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Pubmed编号	文献信息	发表日期	相关基因
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	-
32511265	Deletion of the Pseudorabies Virus gE/gI-US9p complex disrupts kinesin KIF1A and KIF5C recruitment during egress, and alters the properties of microtubule-dependent transport in vitro. PLoS Pathog Drishya Diwaker , John W Murray , Jenna Barnes , Allan W Wolkoff , Duncan W Wilson	2020-06-01	-
31805580	Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene. Neuropediatrics A E Van Beusichem , J Nicolai , J Verhoeven , L Speth , M Coenen , M A Willemsen , E J Kamsteeg , C Stumpel , R J Vermeulen	2020-04-01	-
31589786	All-atom molecular dynamics simulations reveal how kinesin transits from one-head-bound to two-heads-bound state. Proteins Xiao-Xuan Shi , Si-Kao Guo , Peng-Ye Wang , Hong Chen , Ping Xie	2020-04-01	-
31983434	Breaking of buckled microtubules is mediated by kinesins. Biochem Biophys Res Commun Arif Md Rashedul Kabir , Kazuki Sada , Akira Kakugo	2020-03-26	-
32045731	Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation. Stem Cell Res Wang Xiaojing , Ma Yanyan , Duan Ruonan , Liu Xiaolin , Zhang Haiyan , Ma Jian , Liu Yi , Sun Wenjie , Liu Qiji	2020-03-01	-
31995633	A kinesin-3 recruitment complex facilitates axonal sorting of enveloped alpha herpesvirus capsids. PLoS Pathog Julian Scherer , Ian B Hogue , Zachary A Yaffe , Nikhila S Tanneti , Benjamin Y Winer , Michael Vershinin , Lynn W Enquist	2020-01-01	-
32174959	A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity. Front Genet Yi Guo , Yuanyuan Chen , Min Yang , Xin Xu , Zijun Lin , Junhong Ma , Hongnian Chen , Yida Hu , Yuanlin Ma , Xuefeng Wang , Xin Tian	2020-01-01	-
31488895	KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. Eur J Hum Genet Maartje Pennings , Meyke I Schouten , Judith van Gaalen , Rowdy P P Meijer , Susanne T de Bot , Marjolein Kriek , Christiaan G J Saris , Leonard H van den Berg , Michael A van Es , Dick M H Zuidgeest , Mariet W Elting , Jiddeke M van de Kamp , Karin Y van Spaendonck-Zwarts , Christine de Die-Smulders , Eva H Brilstra , Corien C Verschuuren , Bert B A de Vries , Jacques Bruijn , Kalliopi Sofou , Floor A Duijkers , B Jaeger , Jolanda H Schieving , Bart P van de Warrenburg , Erik-Jan Kamsteeg	2020-01-01	-
31678930	Proteomic Analysis Reveals a Role for RSK in p120-catenin Phosphorylation and Melanoma Cell-Cell Adhesion. Mol Cell Proteomics Antoine MÃ©ant , Beichen Gao , GeneviÃ¨ve Lavoie , Sami Nourreddine , Flora Jung , LÃ©o Aubert , Joseph Tcherkezian , Anne-Claude Gingras , Philippe P Roux	2020-01-01	-

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