IDS - iduronate 2-sulfatase-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

收藏

3423 IDS

基因描述

Type	Description
Definition	iduronate 2-sulfatase

研究结论

Date	Results	Publications
2020-11-21 13:27:00	Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.	32070051
2020-07-25 11:36:00	Mucopolysaccharidosis type II R468Q IDS mutant could not be refolded in the calnexin cycle.Calnexin accelerates the folding of the mucopolysaccharidosis type II mutant IDS in the endoplasmic reticulum.	31029429
2019-03-23 11:37:00	Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants	30639582
2018-12-22 11:18:00	IDS structure revealed by X-ray crystallography provides essential insight into multiple mechanisms by which pathogenic mutations interfere with enzyme function, and a compelling explanation for severe Hunter syndrome phenotypes.	28593992
2017-09-30 14:12:00	Study analyzed the genotype-phenotype relationship for 17 patients with mucopolysaccharidosis II and performed expression studies for 12 variants, nine of which have not been reported previously; speculated that very low or cell-type-specific IDS residual activity is sufficient to prevent the neuronal phenotype.	28543354

名称对应

Type	IDs
Synonymous	MPS2, SIDS
Gene	UniProtKB-ID: IDS_HUMAN, B4DGD7_HUMAN UniprotKB: P22304, B4DGD7 UniParc: UPI000012D213, UPI000006DD56, UPI00017A6F69, UPI000002ABAC EMBL: L04580, L04584, L13321, L13328, L04578, L04579, AF011889, L13329, CH471171, AK294541, L13324, L13326, L13322, BC006170, L04583, L13327, AC233288, L04581, L13323, L04586, L04582, L13325, L40586, L04585, M58342 Ensembl: ENSG00000010404 KO: hsa:3423
Nucleutide sequences	EMBL-CDS: AAA59192.1, AAA63197.1, AAA16877.1, AAC77828.1, EAW61283.1, AAA92014.1, AAH06170.1, EAW61282.1, EAW61281.1, BAG57748.1 Ensembl_TRS: ENST00000370441, ENST00000340855, ENST00000466323
Protein sequencees	Ensembl_PRO: ENSP00000339801, ENSP00000418264, ENSP00000359470 RefSeq: NP_006114.1, NP_000193.1, NP_001160022.1
Others	UniRef100: UniRef100_B4DGD7, UniRef100_P22304 UniRef90: UniRef90_P22304 UniRef50: UniRef50_P22304 UniGene: Hs.460960 CCDS: CCDS14685.1, CCDS14686.1

全选

{{proteinIndex+1}}

mRNA

Protein

UniprotKB

Description

Refseq

{{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}

Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location

( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

收藏到我的文献

全选

Pubmed编号	文献信息	发表日期	相关基因
32070051	Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment. Int J Mol Sci Francesca D'Avanzo , Laura Rigon , Alessandra Zanetti , Rosella Tomanin	2020-02-13	-
31029429	Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II. Biochem. Biophys. Res. Commun. Yosuke Osaki , Koji Matsuhisa , Wang Che , Masayuki Kaneko , Rie Asada , Takao Masaki , Kazunori Imaizumi , Atsushi Saito	2019-06-18	-
30639582	Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants. Clin Chim Acta Wen Zhang , Ting Xie , Huiying Sheng , Yongxian Shao , Yunting Lin , Minyan Jiang , Aijing Xu , Xueying Su , Zongcai Liu , Xiaoyuan Zhao , Li Liu , Yonglan Huang	2019-04-01	-
28543354	Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype. Dev Med Child Neurol Audrey A M Vollebregt , Marianne Hoogeveen-Westerveld , Marian A Kroos , Esmee Oussoren , Iris Plug , George J Ruijter , Ans T van der Ploeg , W W M Pim Pijnappel	2017-10-01	-
28593992	Insights into Hunter syndrome from the structure of iduronate-2-sulfatase. Nat Commun Mykhaylo Demydchuk , Chris H Hill , Aiwu Zhou , GÃ¡bor BunkÃ³czi , Penelope E Stein , Denis Marchesan , Janet E Deane , Randy J Read	2017-06-08	-
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	-
28298427	Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Mol Syst Biol Kate Sokolina , Saranya Kittanakom , Jamie Snider , Max Kotlyar , Pascal Maurice , Jorge GandÃa , Abla Benleulmi-Chaachoua , Kenjiro Tadagaki , Atsuro Oishi , Victoria Wong , Ramy H Malty , Viktor Deineko , Hiroyuki Aoki , Shahreen Amin , Zhong Yao , Xavier MoratÃ³ , David Otasek , Hiroyuki Kobayashi , Javier Menendez , Daniel Auerbach , Stephane Angers , Natasa PrÅ¾ulj , Michel Bouvier , Mohan Babu , Francisco Ciruela , Ralf Jockers , Igor Jurisica , Igor Stagljar	2017-03-15	-
28186595	[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeâ¡]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi Yiying Li , Shiyue Mei , Xiangdong Kong , Zhenhua Zhao , Xiaofan Zhu , Xinyu Yang , Zhi Qin , Han Wu	2017-02-10	-
27146977	Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. Clin. Genet. A Uttarilli , P Ranganath , D Matta , J Md Nurul Jain , K Prasad , A S Babu , K M Girisha , I C Verma , S R Phadke , K Mandal , R D Puri , S Aggarwal , S Danda , V H Sankar , S Kapoor , M Bhat , K Gowrishankar , A Q Hasan , M Nair , S Nampoothiri , A Dalal	2016-12-01	-
27246110	Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase. Mol Genet Metab Motomichi Kosuga , Ryuichi Mashima , Asami Hirakiyama , Naoko Fuji , Tadayuki Kumagai , Joo-Hyun Seo , Mari Nikaido , Seiji Saito , Kazuki Ohno , Hitoshi Sakuraba , Torayuki Okuyama	2016-07-01	-

研究热度

热点单位

排名	科研单位	文献
{{affIndex+1}}	{{aff.value}}	{{aff.size}}

目前还没有研究热点单位

热点人员

排名	研究人员	文献
{{authorIndex+1}}	{{author.value}}	{{author.size}}

目前还没有研究热点人员

© 2017 biocloud.net版权所有 ICP证：京10042835号