Mpv17 - MpV17 mitochondrial inner membrane protein-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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17527 Mpv17

基因描述

Type	Description
Definition	MpV17 mitochondrial inner membrane protein

研究结论

Date	Results	Publications
2018-01-20 10:27:00	Data show that elevated rGMP incorporation is associated with early-onset mtDNA depletion in liver and late-onset multiple deletions in brain of Mpv17-/- mice, suggesting aberrant ribonucleotide incorporation is a primary mtDNA abnormality that can result in pathology.	29106596
2016-05-14 11:49:00	changes in the expression of factors involved in mitochondrial deoxynucleotide homeostasis indicate a remodeling of nucleotide metabolism in MPV17 disease models	26760297
2015-08-15 11:16:00	the nuclear gene MPV17, whose mutated forms are associated with hepatocerebral MDDS in humans, plays a so-far unknown role in mtDNA maintenance	25205723
2014-08-09 11:02:00	the inner mitochondrial membrane protein Mpv17 in podocytes is essential for the maintenance of mitochondrial homeostasis and protects podocytes against oxidative stress-induced injury both in vitro and in vivo.	24598802
2012-10-20 11:47:00	A lack of Mpv17 protein function in mitochondria thus seems to initiate tissue-specific cell-death pathways resulting in the pathology seen during the degeneration process.	22322422

名称对应

Type	IDs
Synonymous	Tg.Mpv17
Gene	UniProtKB-ID: MPV17_MOUSE, G3UVW1_MOUSE, E9Q1I6_MOUSE UniprotKB: P19258, G3UVW1, E9Q1I6 UniParc: UPI0001889AD3, UPI000154729E, UPI0000001935 EMBL: AC109608, BC013452, M36411 Ensembl: ENSMUSG00000107283 KO: mmu:17527
Nucleutide sequences	EMBL-CDS: AAA39736.1, AAH13452.1 Ensembl_TRS: ENSMUST00000154241, ENSMUST00000201353, ENSMUST00000200864, ENSMUST00000202241, ENSMUST00000200744
Protein sequencees	Ensembl_PRO: ENSMUSP00000144198, ENSMUSP00000144331, ENSMUSP00000115292, ENSMUSP00000144119, ENSMUSP00000143843 RefSeq: NP_001281251.1, NP_001281253.1, NP_032648.1, NP_001297457.1, NP_001297456.1
Others	UniRef100: UniRef100_G3UVW1, UniRef100_E9Q1I6, UniRef100_P19258 UniRef90: UniRef90_P19258 UniRef50: UniRef50_P19258 UniGene: Mm.435472 CCDS: CCDS19175.1

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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
31063702	Cytochrome c oxidase dysfunction enhances phagocytic function and osteoclast formation in macrophages. FASEB J Rajesh Angireddy , Hasan Raza Kazmi , Satish Srinivasan , Li Sun , Jameel Iqbal , Serge Y Fuchs , Manti Guha , Takashi Kijima , Tony Yuen , Mone Zaidi , Narayan G Avadhani	2019-08-01	-
30427907	hnRNPA2 mediated acetylation reduces telomere length in response to mitochondrial dysfunction. PLoS ONE Manti Guha , Satish Srinivasan , F Bradley Johnson , Gordon Ruthel , Kip Guja , Miguel Garcia-Diaz , Brett A Kaufman , M Rebecca Glineburg , JiKang Fang , Hiroshi Nakagawa , Jeelan Basha , Tapas Kundu , Narayan G Avadhani	2018-01-01	-
29106596	Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model. Nucleic Acids Res Chloe F Moss , Ilaria Dalla Rosa , Lilian E Hunt , Takehiro Yasukawa , Robert Young , Aleck W E Jones , Kaalak Reddy , Radha Desai , Sam Virtue , Greg Elgar , Peter Voshol , Martin S Taylor , Ian J Holt , Martin A M Reijns , Antonella Spinazzola	2017-12-15	-
27689697	Mtu1-Mediated Thiouridine Formation of Mitochondrial tRNAs Is Required for Mitochondrial Translation and Is Involved in Reversible Infantile Liver Injury. PLoS Genet. Yong Wu , Fan-Yan Wei , Layla Kawarada , Takeo Suzuki , Kimi Araki , Yoshihiro Komohara , Atsushi Fujimura , Taku Kaitsuka , Motohiro Takeya , Yuichi Oike , Tsutomu Suzuki , Kazuhito Tomizawa	2016-09-01	-
26760297	MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria. PLoS Genet Ilaria Dalla Rosa , Yolanda CÃ¡mara , Romina Durigon , Chloe F Moss , Sara Vidoni , Gokhan Akman , Lilian Hunt , Mark A Johnson , Sarah Grocott , Liya Wang , David R Thorburn , Michio Hirano , Joanna Poulton , Robert W Taylor , Greg Elgar , Ramon MartÃ , Peter Voshol , Ian J Holt , Antonella Spinazzola	2016-01-01	-
25205723	The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species. Biol. Chem. Stefanie LÃ¶llgen , Hans Weiher	2015-01-01	Mpv17, mpv17
24598802	Mpv17 in mitochondria protects podocytes against mitochondrial dysfunction and apoptosis in vivo and in vitro. Am. J. Physiol. Renal Physiol. Gabriela Casalena , Stefanie Krick , Ilse Daehn , Liping Yu , Wenjun Ju , Shaolin Shi , Su-yi Tsai , Vivette D'Agati , Maja Lindenmeyer , Clemens D Cohen , Detlef Schlondorff , Erwin P Bottinger	2014-06-01	Cd2ap, Mpv17
23375831	In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype. Neuromuscul. Disord. C Gineste , J M De Winter , C Kohl , C C Witt , B Giannesini , K Brohm , Y Le Fur , N Gretz , C Vilmen , E Pecchi , M Jubeau , P J Cozzone , G J M Stienen , H Granzier , S Labeit , C A C Ottenheijm , D Bendahan , J Gondin	2013-04-01	-
22322422	Missing mitochondrial Mpv17 gene function induces tissue-specific cell-death pathway in the degenerating inner ear. Cell Tissue Res. Angela-Maria Meyer zum Gottesberge , Thomas Massing , Stefan Hansen	2012-02-01	Mpv17
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-

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