LIPH - lipase H-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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200879 LIPH

基因描述

Type	Description
Definition	lipase H

研究结论

Date	Results	Publications
2020-02-15 11:05:00	High LIPH expression is associated with Coronary Artery Disease.	30651409
2019-08-31 11:13:00	Study analyzed a Japanese family with autosomal recessive woolly hair and identified a novel splice site mutation c.982+2T>A; +7_+21del in the LIPH gene, which caused skipping of exon 7 in cultured cells.	29974973
2018-12-22 11:08:00	Two mutants of LIPH lead to secretion defects of LIPH, which are involved in the pathogenesis of Autosomal recessive woolly hair/hypotrichosis.	29346610
2018-09-01 11:46:00	Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in three consanguineous Pakistani families.	28425126
2018-08-04 11:52:00	The present study shows 93% of Japanese patients with ARWH had at least one of the two founder mutations in exon 6 of LIPH. Highly prevalent founder mutations in LIPH.	27641630

名称对应

Type	IDs
Synonymous	AH, ARWH2, HYPT7, LAH2, LPDLR, PLA1B, mPA-PLA1
Gene	UniProtKB-ID: LIPH_HUMAN, A2IBA6_HUMAN UniprotKB: Q8WWY8, A2IBA6 UniParc: UPI000003AEB8, UPI0000EE1DDB EMBL: AK122651, CH471052, AK074229, AY036912, AY093498, AC099661, EF186229, EF186228, BC064941 Ensembl: ENSG00000163898 KO: hsa:200879
Nucleutide sequences	EMBL-CDS: BAB85023.1, BAG53642.1, EAW78218.1, AAM18803.1, ABM67095.1, AAH64941.1, AAK63178.1, ABM67094.1 Ensembl_TRS: ENST00000296252, ENST00000424591
Protein sequencees	Ensembl_PRO: ENSP00000296252, ENSP00000396384 RefSeq: XP_011510832.1, XP_011510833.1, XP_006713592.1, NP_640341.1, XP_016861341.1
Others	UniRef100: UniRef100_Q8WWY8, UniRef100_A2IBA6 UniRef90: UniRef90_A0A2K5U0A0, UniRef90_Q8WWY8 UniRef50: UniRef50_Q8WWY8, UniRef50_Q8CIV3 UniGene: Hs.68864 CCDS: CCDS3272.1

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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
30651409	Serum Triglyceride Lipase Concentrations are Independent Risk Factors for Coronary Artery Disease and In-Stent Restenosis. J. Atheroscler. Thromb. Xiaolan Yu , Jianping Lu , Jingjing Li , Wen Guan , Shaorong Deng , Qing Deng , Hao Ye , Wei Han , Yan Yu , Ruiyan Zhang	2019-09-01	-
29974973	Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair. J. Dermatol. Nobuyuki Asano , Tomoko Okita , Shuichiro Yasuno , Michiya Yamaguchi , Keisuke Kashiwagi , Takuro Kanekura , Yutaka Shimomura	2019-01-01	-
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-
28425126	Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. Congenit Anom (Kyoto) Farooq Ahmad , Salma Sharif , Muhammad Furqan Ubaid , Khadim Shah , Muhammad Nasim Khan , Muhammad Umair , Zahid Azeem , Wasim Ahmad	2018-01-01	-
29346610	Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT). Mutagenesis Xiao-Dan Chang , Ya-Juan Gu , Shan Dai , Xue-Rong Chen , Chun-Lei Zhang , Hong-Shan Zhao , Qing-Hua Song	2018-12-31	-
27641630	Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan. Br. J. Dermatol. T Takeichi , K Tanahashi , T Taki , M Kono , K Sugiura , M Akiyama	2017-07-01	-
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	-
27375176	Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation. Br. J. Dermatol. M Kinoshita-Ise , A Kubo , T Sasaki , N Umegaki-Arao , M Amagai , M Ohyama	2017-01-01	-
27763569	The Association between LIPC rs493258 Polymorphism and the Susceptibility to Age-Related Macular Degeneration. Int J Environ Res Public Health Yafeng Wang , Mingxu Wang , Xiaoqing Zhang , Jing Nie , Ming Zhang , Xiaohong Liu , Le Ma	2016-10-18	-
26341494	Lipase member H frequently overexpressed in human esophageal adenocarcinomas. Tumour Biol. Hisako Ishimine , Rui Zhou , Kenya Sumitomo , Yoshimasa Ito , Yasuhiro Seki , Yukihiro Yoshida , Akira Kurisaki	2016-02-01	-

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