Fig4 - FIG4 phosphoinositide 5-phosphatase-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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103199 Fig4

基因描述

Type	Description
Definition	FIG4 phosphoinositide 5-phosphatase

研究结论

Date	Results	Publications
2019-03-16 10:51:00	in the adult PNS Fig4 is required to protect myelinated axons from Wallerian degeneration. In the adult CNS, Fig4 is dispensable for fiber stability and nerve conduction, but is required for the timely repair of damaged white matter. The greater vulnerability of the PNS to Fig4 deficiency in the mouse is consistent with clinical observations in patients with Charcot-Marie-Tooth disease.	29688489
2016-10-22 12:32:00	Neuronal expression of Fig4(C486S) transgene prevents neonatal neurodegeneration & juvenile lethality seen in Fig4-/- mice. However, later in life Fig4(C486S) causes significant abnormalities: hydrocephalus, defective myelination &reduced lifespan	26604144
2015-09-26 13:25:00	Inactivation of Fig4 in motor neurons display neuronal and axonal degeneration.	25187576
2013-02-09 11:05:00	Fig4 expression in the neurons is both necessary and sufficient to prevent spongiform neurodegeneration	22581779
2012-09-08 11:29:00	Haploinsufficiency of Fig4 does not impose risks in rodents to develop neuronal degeneration in either naive or traumatic conditions.	21872275

名称对应

Type	IDs
Synonymous	A530089I17Rik, AI326867, Sac3
Gene	UniProtKB-ID: FIG4_MOUSE UniprotKB: Q91WF7 UniParc: UPI0000025A9D EMBL: BC015295, AK172926, BC031887 Ensembl: ENSMUSG00000038417 KO: mmu:103199
Nucleutide sequences	EMBL-CDS: AAH15295.1, BAD32204.1, AAH31887.1 Ensembl_TRS: ENSMUST00000043814
Protein sequencees	Ensembl_PRO: ENSMUSP00000039598 RefSeq: NP_598760.1
Others	UniRef100: UniRef100_Q91WF7 UniRef90: UniRef90_Q91WF7 UniRef50: UniRef50_Q91WF7 UniGene: Mm.277242 CCDS: CCDS23803.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
29688489	Protective role of the lipid phosphatase Fig4 in the adult nervous system. Hum. Mol. Genet. Yevgeniya A Mironova , Jing-Ping Lin , Ashley L Kalinski , Lucas D Huffman , Guy M Lenk , Leif A Havton , Miriam H Meisler , Roman J Giger	2018-07-15	-
27008179	PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms. Elife Yevgeniya A Mironova , Guy M Lenk , Jing-Ping Lin , Seung Joon Lee , Jeffery L Twiss , Ilaria Vaccari , Alessandra Bolino , Leif A Havton , Sang H Min , Charles S Abrams , Peter Shrager , Miriam H Meisler , Roman J Giger	2016-03-23	-
26604144	Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene. Hum. Mol. Genet. Guy M Lenk , Christen M Frei , Ashley C Miller , Rachel C Wallen , Yevgeniya A Mironova , Roman J Giger , Miriam H Meisler	2016-01-15	-
25187576	Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy. Hum. Mol. Genet. Ilaria Vaccari , Antonietta Carbone , Stefano Carlo Previtali , Yevgeniya A Mironova , Valeria Alberizzi , Roberta Noseda , Cristina Rivellini , Francesca Bianchi , Ubaldo Del Carro , Maurizio D'Antonio , Guy M Lenk , Lawrence Wrabetz , Roman J Giger , Miriam H Meisler , Alessandra Bolino	2015-01-15	-
24344238	Jab1 regulates Schwann cell proliferation and axonal sorting through p27. J. Exp. Med. Emanuela Porrello , Cristina Rivellini , Giorgia Dina , Daniela Triolo , Ubaldo Del Carro , Daniela Ungaro , Martina Panattoni , Maria Laura Feltri , Lawrence Wrabetz , Ruggero Pardi , Angelo Quattrini , Stefano Carlo Previtali	2014-01-13	-
23623387	Yunis-VarÃ³n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am. J. Hum. Genet. Philippe M Campeau , Guy M Lenk , James T Lu , Yangjin Bae , Lindsay Burrage , Peter Turnpenny , Jorge RomÃ¡n Corona-Rivera , Lucia Morandi , Marina Mora , Heiko Reutter , Anneke T Vulto-van Silfhout , Laurence Faivre , Eric Haan , Richard A Gibbs , Miriam H Meisler , Brendan H Lee	2013-05-02	-
24004519	Murine Fig4 is dispensable for muscle development but required for muscle function. Skelet Muscle Aaron Reifler , Guy M Lenk , Xingli Li , Linda Groom , Susan V Brooks , Desmond Wilson , Michyla Bowerson , Robert T Dirksen , Miriam H Meisler , James J Dowling	2013-01-01	Fig4
23047693	In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P. Proc. Natl. Acad. Sci. U.S.A. Sergey N Zolov , Dave Bridges , Yanling Zhang , Wei-Wei Lee , Ellen Riehle , Rakesh Verma , Guy M Lenk , Kimber Converso-Baran , Thomas Weide , Roger L Albin , Alan R Saltiel , Miriam H Meisler , Mark W Russell , Lois S Weisman	2012-10-23	Fig4, Pikfyve, Vac14
22581779	Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. Hum. Mol. Genet. C J Ferguson , G M Lenk , J M Jones , A E Grant , J J Winters , J J Dowling , R J Giger , Miriam H Meisler	2012-08-15	-
22842785	Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)Pâ and PI(5)P. EMBO J. Yanling Zhang , Amber J McCartney , Sergey N Zolov , Cole J Ferguson , Miriam H Meisler , Michael A Sutton , Lois S Weisman	2012-08-15	Fig4, Vac14

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