DNAAF1 - dynein axonemal assembly factor 1-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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123872 DNAAF1

基因描述

Type	Description
Definition	dynein axonemal assembly factor 1

研究结论

Date	Results	Publications
2020-06-13 10:15:00	DNAAF1 mRNA expression is significantly reduced in the anterior horn in sporadic amyotrophic lateral sclerosis patients.	30939186
2019-01-12 12:11:00	DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport	29228333
2018-09-08 12:04:00	The most significantly mutated cilia-microtubule gene in testicular germ cell tumors is DNAAF1 with biallelic inactivation and loss of DNAAF1 expression shown in tumors from carriers.	27996046
2017-11-11 12:00:00	our findings here demonstrate that mutations in the motile cilia gene DNAAF1 could contribute to the pathogenesis of NTDs.	27543293
2010-01-21 12:36:00	LRRC50 plays a role in assembly of distinct dynein-arm complexes	19944400

名称对应

Type	IDs
Synonymous	CILD13, LRRC50, ODA7, swt
Gene	UniProtKB-ID: DAAF1_HUMAN, A0A140VJN4_HUMAN UniprotKB: Q8NEP3, A0A140VJN4 UniParc: UPI00000723A1, UPI000059D3C9, UPI00018E181D EMBL: AK057238, AL833328, AK058059, HM005423, AK295990, AC040169, AC009123, BC024009, AL137334, AL833336 Ensembl: ENSG00000154099 KO: hsa:123872
Nucleutide sequences	EMBL-CDS: AAH24009.3, CAH10390.1, BAB71645.1, CAH10394.1, CAH10706.1, BAG58765.1, BAB71392.1, AEE61021.1 Ensembl_TRS: ENST00000378553, ENST00000563093
Protein sequencees	Ensembl_PRO: ENSP00000457373, ENSP00000367815 RefSeq: XP_006721192.1, XP_011521156.1, XP_016878409.1, XP_016878410.1, XP_011521160.1, XP_016878407.1, XP_011521155.1, NP_001305685.1, NP_848547.4, XP_016878408.1, XP_011521159.1, XP_011521157.1, XP_016878411.1
Others	UniRef100: UniRef100_Q8NEP3 UniRef90: UniRef90_Q8NEP3 UniRef50: UniRef50_Q8NEP3 UniGene: Hs.310164 CCDS: CCDS10943.2

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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
30939186	Altered Dynein Axonemal Assembly Factor 1 Expression in C-Boutons in Bulbar and Spinal Cord Motor-Neurons in Sporadic Amyotrophic Lateral Sclerosis. J. Neuropathol. Exp. Neurol. Pol AndrÃ©s-Benito , MÃ²nica Povedano , Pascual Torres , Manuel Portero-OtÃn , Isidro Ferrer	2019-05-01	-
30561431	A protein-protein interaction map of the TNF-induced NF-ÎºB signal transduction pathway. Sci Data Emmy Van Quickelberghe , Delphine De Sutter , Geert van Loo , Sven Eyckerman , Kris Gevaert	2018-12-18	-
29987050	Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Proc. Natl. Acad. Sci. U.S.A. Tengfei Xiao , Wei Li , Xiaoqing Wang , Han Xu , Jixin Yang , Qiu Wu , Ying Huang , Joseph Geradts , Peng Jiang , Teng Fei , David Chi , Chongzhi Zang , Qi Liao , Jonathan Rennhack , Eran Andrechek , Nanlin Li , Simone Detre , Mitchell Dowsett , Rinath M Jeselsohn , X Shirley Liu , Myles Brown	2018-07-31	-
29228333	DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Hum Mol Genet Verity L Hartill , Glenn van de Hoek , Mitali P Patel , Rosie Little , Christopher M Watson , Ian R Berry , Amelia Shoemark , Dina Abdelmottaleb , Emma Parkes , Chiara Bacchelli , Katarzyna Szymanska , Nine V Knoers , Peter J Scambler , Marius Ueffing , Karsten Boldt , Robert Yates , Paul J Winyard , Beryl Adler , Eduardo Moya , Louise Hattingh , Anil Shenoy , Claire Hogg , Eamonn Sheridan , Ronald Roepman , Dominic Norris , Hannah M Mitchison , Rachel H Giles , Colin A Johnson	2018-02-01	-
27996046	Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. Nat Commun Kevin Litchfield , Max Levy , Darshna Dudakia , Paula Proszek , Claire Shipley , Sander Basten , Elizabeth Rapley , D Timothy Bishop , Alison Reid , Robert Huddart , Peter Broderick , David Gonzalez de Castro , Simon O'Connor , Rachel H Giles , Richard S Houlston , Clare Turnbull	2016-12-20	-
27543293	Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans. G3 (Bethesda) Chunyue Miao , Qian Jiang , Huili Li , Qin Zhang , Baoling Bai , Yihua Bao , Ting Zhang	2016-10-13	-
27173435	An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun Karsten Boldt , Jeroen van Reeuwijk , Qianhao Lu , Konstantinos Koutroumpas , Thanh-Minh T Nguyen , Yves Texier , Sylvia E C van Beersum , Nicola Horn , Jason R Willer , Dorus A Mans , Gerard Dougherty , Ideke J C Lamers , Karlien L M Coene , Heleen H Arts , Matthew J Betts , Tina Beyer , Emine Bolat , Christian Johannes Gloeckner , Khatera Haidari , Lisette Hetterschijt , Daniela Iaconis , Dagan Jenkins , Franziska Klose , Barbara Knapp , Brooke Latour , Stef J F Letteboer , Carlo L Marcelis , Dragana Mitic , Manuela Morleo , Machteld M Oud , Moniek Riemersma , Susan Rix , Paulien A Terhal , Grischa Toedt , Teunis J P van Dam , Erik de Vrieze , Yasmin Wissinger , Ka Man Wu , Gordana Apic , Philip L Beales , Oliver E Blacque , Toby J Gibson , Martijn A Huynen , Nicholas Katsanis , Hannie Kremer , Heymut Omran , Erwin van Wijk , Uwe Wolfrum , FranÃ§ois Kepes , Erica E Davis , Brunella Franco , Rachel H Giles , Marius Ueffing , Robert B Russell , Ronald Roepman , UK10K Rare Diseases Group	2016-05-13	-
23872636	DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat. Genet. Aarti Tarkar , Niki T Loges , Christopher E Slagle , Richard Francis , Gerard W Dougherty , Joel V Tamayo , Brett Shook , Marie Cantino , Daniel Schwartz , Charlotte Jahnke , Heike Olbrich , Claudius Werner , Johanna Raidt , Petra Pennekamp , Marouan Abouhamed , Rim Hjeij , Gabriele KÃ¶hler , Matthias Griese , You Li , Kristi Lemke , Nikolas Klena , Xiaoqin Liu , George Gabriel , Kimimasa Tobita , Martine Jaspers , Lucy C Morgan , Adam J Shapiro , Stef J F Letteboer , Dorus A Mans , Johnny L Carson , Margaret W Leigh , Whitney E Wolf , Serafine Chen , Jane S Lucas , Alexandros Onoufriadis , Vincent Plagnol , Miriam Schmidts , Karsten Boldt , UK10K , Ronald Roepman , Maimoona A Zariwala , Cecilia W Lo , Hannah M Mitchison , Michael R Knowles , Rebecca D Burdine , Joseph J Loturco , Heymut Omran	2013-09-01	Dnah5, Cct3, Cct4, Cct5, Cct8, Dync1i1, Emx1, Gt(ROSA)26Sor, Hprt, Hspa1b, Dnaic2, Dyx1c1, Dnali1, ins, foxa3, myl7, spaw, dyx1c1, DNAAF1, DYX1C1, CCDC103, DNAAF2
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	-
19944405	Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am J Hum Genet Philippe Duquesnoy , Estelle Escudier , Laetitia Vincensini , Judy Freshour , Anne-Marie Bridoux , AndrÃ© Coste , Antoine Deschildre , Jacques de Blic , Marie Legendre , Guy Montantin , Henrique Tenreiro , Anne-Marie Vojtek , CÃ©line Loussert , Annick ClÃ©ment , Denise Escalier , Philippe Bastin , David R Mitchell , Serge Amselem	2009-12-01	-

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