dkc1 - dyskeratosis congenita 1, dyskerin-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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613144 dkc1

基因描述

Type	Description
Definition	dyskeratosis congenita 1, dyskerin

研究结论

Date	Results	Publications
2012-07-07 11:23:00	Deficiency in dkc1 and nola1 in the H/ACA RNP complex likely contributes to the hematopoietic phenotype through p53 activation associated with rRNA processing defects during the initial stage of Dyskeratosis congenita pathogenesis.	22299032

名称对应

Type	IDs
Synonymous	fc87a02, fi24a05, fv62a07, wu:fa28f10, wu:fc87a02, wu:fi24a05, wu:fv62a07, zgc:110395
Gene	UniProtKB-ID: F1Q749_DANRE, Q7ZUT3_DANRE UniprotKB: F1Q749, Q7ZUT3 UniParc: UPI000188A4B5, UPI000000BBF8 EMBL: BC047840, CR792441 Ensembl: ENSDARG00000016484 KO: dre:613144
Nucleutide sequences	EMBL-CDS: AAH47840.1 Ensembl_TRS: ENSDART00000017176
Protein sequencees	Ensembl_PRO: ENSDARP00000007628 RefSeq: NP_001028279.2
Others	UniRef100: UniRef100_F1Q749, UniRef100_Q7ZUT3 UniRef90: UniRef90_F1Q749 UniRef50: UniRef50_O44081 UniGene: Dr.33715

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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
32554502	Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc Natl Acad Sci U S A Eszter Balogh , Jennifer C Chandler , MÃ¡tÃ© Varga , Mona Tahoun , DÃ³ra K MenyhÃ¡rd , GusztÃ¡v Schay , Tomas Goncalves , RenÃ¡ta Hamar , Regina LÃ©grÃ¡di , Ãkos Szekeres , Olivier Gribouval , Robert Kleta , Horia Stanescu , Detlef Bockenhauer , Andrea Kerti , Hywel Williams , Veronica Kinsler , Wei-Li Di , David Curtis , Maria Kolatsi-Joannou , Hafsa Hammid , Anna SzÅcs , KristÃ³f Perczel , Erika Maka , Gergely Toldi , Florentina Sava , Christelle Arrondel , Magdolna Kardos , Attila Fintha , Ahmed Hossain , Felipe D'Arco , Mario Kaliakatsos , Jutta Koeglmeier , William Mifsud , Mariya Moosajee , Ana Faro , Eszter JÃ¡vorszky , GÃ¡bor Rudas , Marwa H Saied , Salah Marzouk , Kata Kelen , Judit GÃ¶tze , George Reusz , Tivadar Tulassay , FranÃ§ois Dragon , GÃ©raldine Mollet , Susanne Motameny , Holger Thiele , Guillaume Dorval , Peter NÃ¼rnberg , AndrÃ¡s Perczel , Attila J SzabÃ³ , David A Long , Kazunori Tomita , Corinne Antignac , Aoife M Waters , KÃ¡lmÃ¡n Tory	2020-06-30	-
31924754	Dual-initiation promoters with intertwined canonical and TCT/TOP transcription start sites diversify transcript processing. Nat Commun Chirag Nepal , Yavor Hadzhiev , Piotr Balwierz , EstefanÃa TarifeÃ±o-Saldivia , Ryan Cardenas , Joseph W Wragg , Ana-Maria Suzuki , Piero Carninci , Bernard Peers , Boris Lenhard , Jesper B Andersen , Ferenc MÃ¼ller	2020-01-10	-
27189481	Gene evolution and gene expression after whole genome duplication in fish: the PhyloFish database. BMC Genomics Jeremy Pasquier , CÃ©dric Cabau , Thaovi Nguyen , Elodie Jouanno , Dany Severac , Ingo Braasch , Laurent Journot , Pierre Pontarotti , Christophe Klopp , John H Postlethwait , Yann Guiguen , Julien Bobe	2016-05-18	-
26469318	RFX transcription factors are essential for hearing in mice. Nat Commun Ran Elkon , Beatrice Milon , Laura Morrison , Manan Shah , Sarath Vijayakumar , Manoj Racherla , Carmen C Leitch , Lorna Silipino , Shadan Hadi , MichÃ¨le Weiss-Gayet , EmmanuÃ¨le Barras , Christoph D Schmid , Aouatef Ait-Lounis , Ashley Barnes , Yang Song , David J Eisenman , Efrat Eliyahu , Gregory I Frolenkov , Scott E Strome , BÃ©nÃ©dicte Durand , Norann A Zaghloul , Sherri M Jones , Walter Reith , Ronna Hertzano	2015-10-15	-
22299032	Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing. PLoS ONE Ying Zhang , Kenji Morimoto , Nadia Danilova , Bo Zhang , Shuo Lin	2012-01-01	-
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	-
19563808	FACS-assisted microarray profiling implicates novel genes and pathways in zebrafish gastrointestinal tract development. Gastroenterology Carsten Stuckenholz , Lili Lu , Prakash Thakur , Naftali Kaminski , Nathan Bahary	2009-10-01	nhp2, mir122, foxa3, opn1sw1, polr1a, gar1, akt2l, fam136a, nolc1, si:ch211-137i24.10, dkc1, cldnc
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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