NDUFAF8 - NADH:ubiquinone oxidoreductase complex assembly factor 8-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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284184 NDUFAF8

基因描述

Type	Description
Definition	NADH:ubiquinone oxidoreductase complex assembly factor 8

研究结论

Date	Results	Publications
2020-04-18 11:43:00	Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.	31866046

名称对应

Type	IDs
Synonymous	C17orf89
Gene	UniProtKB-ID: NDUF8_HUMAN UniprotKB: A1L188 UniParc: UPI00002017C4 EMBL: CH471099, BC127837 Ensembl: ENSG00000224877 KO: hsa:284184
Nucleutide sequences	EMBL-CDS: AAI27838.1, EAW89640.1 Ensembl_TRS: ENST00000431388
Protein sequencees	Ensembl_PRO: ENSP00000400184 RefSeq: NP_001340332.1, NP_001079990.1, NP_001340331.1
Others	UniRef100: UniRef100_A1L188 UniRef90: UniRef90_A1L188 UniRef50: UniRef50_A1L188 UniGene: Hs.356545 CCDS: CCDS45809.1

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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
31866046	Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. Am J Hum Genet Charlotte L Alston , Mike T Veling , Juliana Heidler , Lucie S Taylor , Joseph T Alaimo , Andrew Y Sung , Langping He , Sila Hopton , Alexander Broomfield , Julija Pavaine , Jullianne Diaz , Eyby Leon , Philipp Wolf , Robert McFarland , Holger Prokisch , Saskia B Wortmann , Penelope E Bonnen , Ilka Wittig , David J Pagliarini , Robert W Taylor	2020-01-02	-
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
28162770	Gene Essentiality Profiling Reveals Gene Networks and Synthetic Lethal Interactions with Oncogenic Ras. Cell Tim Wang , Haiyan Yu , Nicholas W Hughes , Bingxu Liu , Arek Kendirli , Klara Klein , Walter W Chen , Eric S Lander , David M Sabatini	2017-02-23	-
27499296	Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Mol. Cell Brendan J Floyd , Emily M Wilkerson , Mike T Veling , Catie E Minogue , Chuanwu Xia , Emily T Beebe , Russell L Wrobel , Holly Cho , Laura S Kremer , Charlotte L Alston , Katarzyna A Gromek , Brendan K Dolan , Arne Ulbrich , Jonathan A Stefely , Sarah L Bohl , Kelly M Werner , Adam Jochem , Michael S Westphall , Jarred W Rensvold , Robert W Taylor , Holger Prokisch , Jung-Ja P Kim , Joshua J Coon , David J Pagliarini	2016-08-18	-
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	-
17287340	Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry. Proc. Natl. Acad. Sci. U.S.A. Henrik Molina , David M Horn , Ning Tang , Suresh Mathivanan , Akhilesh Pandey	2007-02-13	DNAH12, PALLD, C17orf89, TCEA1P2, MKL1, EIF3CL
12477932	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc. Natl. Acad. Sci. U.S.A. Robert L Strausberg , Elise A Feingold , Lynette H Grouse , Jeffery G Derge , Richard D Klausner , Francis S Collins , Lukas Wagner , Carolyn M Shenmen , Gregory D Schuler , Stephen F Altschul , Barry Zeeberg , Kenneth H Buetow , Carl F Schaefer , Narayan K Bhat , Ralph F Hopkins , Heather Jordan , Troy Moore , Steve I Max , Jun Wang , Florence Hsieh , Luda Diatchenko , Kate Marusina , Andrew A Farmer , Gerald M Rubin , Ling Hong , Mark Stapleton , M Bento Soares , Maria F Bonaldo , Tom L Casavant , Todd E Scheetz , Michael J Brownstein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Christa Prange , Sam S Raha , Naomi A Loquellano , Garrick J Peters , Rick D Abramson , Sara J Mullahy , Stephanie A Bosak , Paul J McEwan , Kevin J McKernan , Joel A Malek , Preethi H Gunaratne , Stephen Richards , Kim C Worley , Sarah Hale , Angela M Garcia , Laura J Gay , Stephen W Hulyk , Debbie K Villalon , Donna M Muzny , Erica J Sodergren , Xiuhua Lu , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madan , Alice C Young , Yuriy Shevchenko , Gerard G Bouffard , Robert W Blakesley , Jeffrey W Touchman , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Martin I Krzywinski , Ursula Skalska , Duane E Smailus , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Marco A Marra , Mammalian Gene Collection Program Team	2002-12-24	-

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