LRTOMT - leucine rich transmembrane and O-methyltransferase domain containing-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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220074 LRTOMT

基因描述

Type	Description
Definition	leucine rich transmembrane and O-methyltransferase domain containing

研究结论

Date	Results	Publications
2020-10-31 13:17:00	A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.	32517708
2015-08-22 10:40:00	Results indicate that mutations in the LRT)MT gene lead to alterations in the LRTOMT2 protein and might be involved in progressive sensorineural hearing loss.	25788562
2013-04-06 10:50:00	LRTOMT gene is the second cause of congenital hearing impairment in Moroccan patients.	23053991
2011-11-26 10:36:00	A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.	21739586
2010-01-21 00:00:00	Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081.	17166180

名称对应

Type	IDs
Synonymous	CFAP111, DFNB63, LRRC51
Gene	UniProtKB-ID: TOMT_HUMAN, LRC51_HUMAN, A0A024R5L6_HUMAN UniprotKB: Q8WZ04, Q96E66, A0A024R5L6 UniParc: UPI000181EB19, UPI0001914FD5, UPI000013F3D9, UPI000181EB1B, UPI000181EB18, UPI0000034CBC, UPI00019150CB, UPI000181EB1A EMBL: EU627068, CH471076, EU627066, AK302772, AF289588, EU627067, EU627069, AK298997, BC012855, AP000812, AK313150, EU627070, AP002490 Ensembl: ENSG00000184154 KO: hsa:220074
Nucleutide sequences	EMBL-CDS: BAH13802.1, AAL55772.1, AAH12855.1, BAG35968.1, ACF40876.1, ACF40879.1, ACF40878.1, ACF40877.1, EAW74832.1, BAH12920.1, ACF40880.1, EAW74833.1 Gene_ORFName: PP7517, hCG_2016803 Ensembl_TRS: ENST00000307198, ENST00000435085, ENST00000647530, ENST00000538413, ENST00000536917, ENST00000541614, ENST00000423494, ENST00000447974, ENST00000615940, ENST00000289488, ENST00000324866, ENST00000642648, ENST00000538478
Protein sequencees	Ensembl_PRO: ENSP00000409789, ENSP00000305742, ENSP00000444583, ENSP00000438762, ENSP00000440693, ENSP00000289488, ENSP00000443421, ENSP00000438522, ENSP00000482923, ENSP00000441249, ENSP00000494072, ENSP00000414271, ENSP00000494362 RefSeq: XP_006718536.1, NP_001192067.1, XP_011543150.1, NP_001258400.1, NP_001138781.1, NP_001138782.1, NP_660352.1, XP_011543149.1, XP_024304169.1, NP_001305732.1, XP_006718537.1, NP_001138780.1, NP_001138779.1
Others	UniRef100: UniRef100_Q96E66, UniRef100_Q8WZ04 UniRef90: UniRef90_Q96E66, UniRef90_A1Y9I9 UniRef50: UniRef50_Q96E66, UniRef50_A1Y9I9 UniGene: Hs.317243, Hs.667985 CCDS: CCDS44668.1, CCDS55778.1, CCDS44667.1, CCDS8208.1, CCDS59227.1

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Pubmed编号	文献信息	发表日期	相关基因
32517708	A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. BMC Med Genet Akram Sarmadi , Samane Nasrniya , Maryam Soleimani Farsani , Sina Narrei , Zahra Nouri , Mahsa Sepehrnejad , Mohammad Hussein Nilforoush , Hamidreza Abtahi , Mohammad Amin Tabatabaiefar	2020-06-09	-
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	-
26760575	High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. RNA Biol Philip J Uren , Emad Bahrami-Samani , Patricia Rosa de Araujo , Christine Vogel , Mei Qiao , Suzanne C Burns , Andrew D Smith , Luiz O F Penalva	2016-01-01	-
25788562	Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance. Ann Otol Rhinol Laryngol Aya Ichinose , Hideaki Moteki , Mitsuru Hattori , Shin-Ya Nishio , Shin-Ichi Usami	2015-05-01	-
23053991	The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population. Mol Biol Rep Majida Charif , Safaa Bounaceur , Omar Abidi , Halima Nahili , Hassan Rouba , Mostafa Kandil , Redouane Boulouiz , Abdelhamid Barakat	2012-12-01	-
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	-
21739586	A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame. Am J Med Genet A Maarten Vanwesemael , Isabelle Schrauwen , Ruben Ceuppens , Fatemeh Alasti , Ellen Jorssen , Effat Farrokhi , Morteza Hashemzadeh Chaleshtori , Guy Van Camp	2011-08-01	-
19322201	Ubiquitin-mediated proteolysis of HuR by heat shock. EMBO J Kotb Abdelmohsen , Subramanya Srikantan , Xiaoling Yang , Ashish Lal , Hyeon Ho Kim , Yuki Kuwano , Stefanie Galban , Kevin G Becker , Davida Kamara , Rafael de Cabo , Myriam Gorospe	2009-05-06	-
18953341	Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet Zubair M Ahmed , Saber Masmoudi , Ersan Kalay , Inna A Belyantseva , Mohamed Ali Mosrati , Rob W J Collin , Saima Riazuddin , Mounira Hmani-Aifa , Hanka Venselaar , Mayya N Kawar , Abdelaziz Tlili , Bert van der Zwaag , Shahid Y Khan , Leila Ayadi , S Amer Riazuddin , Robert J Morell , Andrew J Griffith , Ilhem Charfedine , Refik Caylan , Jaap Oostrik , Ahmet Karaguzel , Abdelmonem Ghorbel , Sheikh Riazuddin , Thomas B Friedman , Hammadi Ayadi , Hannie Kremer	2008-11-01	-
18794526	A catechol-O-methyltransferase that is essential for auditory function in mice and humans. Proc Natl Acad Sci U S A Xin Du , Martin Schwander , Eva Marie Y Moresco , Pia Viviani , Claudia Haller , Michael S Hildebrand , Kwang Pak , Lisa Tarantino , Amanda Roberts , Heather Richardson , George Koob , Hossein Najmabadi , Allen F Ryan , Richard J H Smith , Ulrich MÃ¼ller , Bruce Beutler	2008-09-23	-

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