COL4A5 - collagen type IV alpha 5 chain-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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1287 COL4A5

基因描述

Type	Description
Definition	collagen type IV alpha 5 chain

研究结论

Date	Results	Publications
2021-03-13 13:21:00	Bidirectional, non-necrotizing glomerular crescents are the critical pathology in X-linked Alport syndrome mouse model harboring nonsense mutation of human COL4A5.	33144651
2021-02-06 13:56:00	Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.	31576025
2020-11-21 13:34:00	[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].	32761583
2020-10-24 13:56:00	Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay.	31481700
2020-09-19 16:27:00	Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families.	32659759

名称对应

Type	IDs
Synonymous	ASLN, ATS, ATS1, CA54
Gene	UniProtKB-ID: CO4A5_HUMAN, A7MBN3_HUMAN, Q49AM6_HUMAN UniprotKB: P29400, A7MBN3, Q49AM6 UniParc: UPI00015C002E, UPI000056F161, UPI000002A538, UPI0000126D57 EMBL: M63472, CH471120, M63458, U04474, U04480, M63457, U04503, U04470, U04500, M63456, U04472, M63464, M63460, M90464, U04508, U04517, U04491, M63471, U04502, U04488, S69168, U04510, U04493, AL136364, M63466, U04515, M63463, BC035387, U04499, U04485, AF199452, U04507, U04505, U04495, U04498, M63470, U04496, U04509, U04519, M63465, U04471, U04487, U04504, U04483, M63461, AL035425, U04516, U04477, U04518, U04520, M63468, S59334, Z37153, BC151846, U04479, U04492, U04473, M63459, U04486, KF459303, S75903, U04478, M63462, M63467, U04501, M63473, U04512, AF199451, U04494, U04490, M63455, U04506, U04511, U04489, U04476, AL031622, M58526, AL034369, M31115, U04514, U04497 Ensembl: ENSG00000188153 KO: hsa:1287
Nucleutide sequences	EMBL-CDS: AAC60612.1, AAF66217.2, AAA99480.1, AAD13909.1, CAA85512.1, EAX02683.1, AAA51558.1, AAA52046.1, AAA52045.1, AAC27816.1, AAB33374.1, AAI51847.1, AAH35387.1 Ensembl_TRS: ENST00000328300, ENST00000361603, ENST00000483338
Protein sequencees	Ensembl_PRO: ENSP00000331902, ENSP00000354505, ENSP00000495685 RefSeq: XP_016884750.1, NP_203699.1, XP_016884749.1, XP_011529151.2, XP_016884752.1, XP_016884751.1, XP_016884748.1, NP_000486.1
Others	UniRef100: UniRef100_A7MBN3, UniRef100_P29400, UniRef100_Q49AM6 UniRef90: UniRef90_Q49AM6, UniRef90_P29400, UniRef90_P29400-2 UniRef50: UniRef50_P29400, UniRef50_Q49AM6 UniGene: Hs.369089 CCDS: CCDS14543.1, CCDS35366.1

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mRNA

Protein

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Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
33144651	Bidirectional, non-necrotizing glomerular crescents are the critical pathology in X-linked Alport syndrome mouse model harboring nonsense mutation of human COL4A5. Sci Rep Jiang Ying Song , Nobuyuki Saga , Kunio Kawanishi , Kentaro Hashikami , Michiyasu Takeyama , Michio Nagata	2020-11-03	-
32761583	[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi Xiaowei Liu , Ming Gao , Yang Zou , Lijuan Wang , Ranran Kang , Peiwen Xu , Yuping Niu , Sexin Huang , Jie Li , Hongqiang Xie , Yuan Gao	2020-08-10	-
32296183	A reference map of the human binary protein interactome. Nature Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G CotÃ© , Meaghan Daley , Steven Deimling , Alice Desbuleux , AmÃ©lie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , IstvÃ¡n A KovÃ¡cs , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat TaÅan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood	2020-04-01	-
31576025	Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families. Eur J Hum Genet Yanqin Zhang , Jie Ding , Suxia Wang , Hongwen Zhang , Xuhui Zhong , Xiaoyu Liu , Ke Xu , Fang Wang	2020-02-01	-
32659759	Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families. Cytogenet Genome Res Xing Lv , Wei-Qing Wu , Jia-Xun Zhang , Liu-Fei Miao , Bai-Zeng Yu , Fang-Fang Chen , Ying-Xia Cui , Zheng-Kun Xia , Zhi-Hong Liu , Xiao-Jun Li	2020-01-01	-
31209800	Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome. Sci China Life Sci Zhihui Li , Peng Zhu , Hui Huang , Ying Pan , Peng Han , Huanhuan Cui , Zhijuan Kang , Mai Xun , Yi Zhang , Saijun Liu , Jian Wang , Jing Wu	2019-12-01	-
31481700	Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay. Sci Rep Tomoko Horinouchi , Kandai Nozu , Tomohiko Yamamura , Shogo Minamikawa , China Nagano , Nana Sakakibara , Koichi Nakanishi , Yuko Shima , Naoya Morisada , Shinya Ishiko , Yuya Aoto , Hiroaki Nagase , Hiroki Takeda , Rini Rossanti , Hiroshi Kaito , Masafumi Matsuo , Kazumoto Iijima	2019-09-03	-
31901041	[Analysis of Alport syndrome induced by type IV collagen alpha 5 gene mutation in two families]. Zhejiang Da Xue Xue Bao Yi Xue Ban Qing Ye , Yingying Zhang , Jingjing Wang , Jianhua Mao	2019-06-25	-
30293132	A family case of X-linked Alport syndrome patients with a novel variant in COL4A5. CEN Case Rep Yasuyo Kashiwagi , Shinji Suzuki , Kazushi Agata , Yasuyuki Morishima , Natsuko Inagaki , Hironao Numabe , Hisashi Kawashima	2019-05-01	-
30647093	Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS. Clin J Am Soc Nephrol Tony Yao , Khalil Udwan , Rohan John , Akanchaya Rana , Amirreza Haghighi , Lizhen Xu , Saidah Hack , Heather N Reich , Michelle Adrienne Hladunewich , Daniel C Cattran , Andrew D Paterson , York Pei , Moumita Barua	2019-02-07	-

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