PIGL - phosphatidylinositol glycan anchor biosynthesis class L-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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9487 PIGL

基因描述

Type	Description
Definition	phosphatidylinositol glycan anchor biosynthesis class L

研究结论

Date	Results	Publications
2019-04-22 10:25:00	Mutations in PIGL in a patient with Mabry syndrome.	25706356
2017-09-16 11:04:00	c.336-2A>G variant in PIGL associated with developmental disorder resulted in exon skipping.	28327575
2017-05-13 19:31:00	these findings indicate that patients with a clinical diagnosis of CHIME syndrome and a single identifiable mutation in PIGL warrant further investigation for copynumber changes involving	28371479
2012-06-02 11:34:00	Whole-exome sequencing on five previously reported CHIME cases identified PIGL (N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase) as required for glycosylphosphatidylinositol anchor formation.	22444671

名称对应

Type	IDs
Synonymous	CHIME
Gene	UniProtKB-ID: PIGL_HUMAN, A8MTV0_HUMAN UniprotKB: Q9Y2B2, A8MTV0 UniParc: UPI0000E59E33, UPI00000411E3, UPI0000131AB3 EMBL: CH471222, AB017165, AK302523, AC005971, AK292932, BC068197 Ensembl: ENSG00000108474 KO: hsa:9487
Nucleutide sequences	EMBL-CDS: AAH68197.1, BAF85621.1, BAA74775.1, BAG63796.1, EAX04498.1 Ensembl_TRS: ENST00000225609, ENST00000395844
Protein sequencees	Ensembl_PRO: ENSP00000225609, ENSP00000379185 RefSeq: XP_016880845.1, XP_016880841.1, XP_011522382.1, XP_016880844.1, XP_016880838.1, XP_016880843.1, NP_004269.1, XP_016880842.1, XP_016880840.1, XP_016880839.1
Others	UniRef100: UniRef100_A8MTV0, UniRef100_Q9Y2B2 UniRef90: UniRef90_A8MTV0, UniRef90_Q9Y2B2 UniRef50: UniRef50_Q9Y2B2, UniRef50_O35790 UniGene: Hs.499793, Hs.625050 CCDS: CCDS11176.1

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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
28327575	Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. Eur J Hum Genet Alistair T Pagnamenta , Yoshiko Murakami , John M Taylor , Consuelo Anzilotti , Malcolm F Howard , Venessa Miller , Diana S Johnson , Shereen Tadros , Sahar Mansour , I Karen Temple , Rachel Firth , Elisabeth Rosser , Rachel E Harrison , Bronwen Kerr , Niko Popitsch , DDD Study , Taroh Kinoshita , Jenny C Taylor , Usha Kini	2017-06-01	-
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	-
28371479	Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. Am J Med Genet A Amy Knight Johnson , Gerald Bradley Schaefer , Jennifer Lee , Ying Hu , Daniela Del Gaudio	2017-05-01	-
26186194	The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell Edward L Huttlin , Lily Ting , Raphael J Bruckner , Fana Gebreab , Melanie P Gygi , John Szpyt , Stanley Tam , Gabriela Zarraga , Greg Colby , Kurt Baltier , Rui Dong , Virginia Guarani , Laura Pontano Vaites , Alban Ordureau , Ramin Rad , Brian K Erickson , Martin WÃ¼hr , Joel Chick , Bo Zhai , Deepak Kolippakkam , Julian Mintseris , Robert A Obar , Tim Harris , Spyros Artavanis-Tsakonas , Mathew E Sowa , Pietro De Camilli , Joao A Paulo , J Wade Harper , Steven P Gygi	2015-07-16	-
25706356	Mutations in PIGL in a patient with Mabry syndrome. Am J Med Genet A Ikuma Fujiwara , Yoshiko Murakami , Tetsuya Niihori , Junko Kanno , Akiko Hakoda , Osamu Sakamoto , Nobuhiko Okamoto , Ryo Funayama , Takeshi Nagashima , Keiko Nakayama , Taroh Kinoshita , Shigeo Kure , Yoichi Matsubara , Yoko Aoki	2015-04-01	-
22959728	Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol. Aging Kreshnik B Ahmeti , Senda Ajroud-Driss , Ammar Al-Chalabi , Peter M Andersen , Jennifer Armstrong , Anne Birve , Hylke M Blauw , Robert H Brown , Lucie Bruijn , Wenjie Chen , Adriano Chio , Mary C Comeau , Simon Cronin , Frank P Diekstra , Athina Soraya Gkazi , Jonathan D Glass , Josh D Grab , Ewout J Groen , Jonathan L Haines , Orla Hardiman , Scott Heller , Jie Huang , Wu-Yen Hung , ITALSGEN consortium , James M Jaworski , Ashley Jones , Humaira Khan , John E Landers , Carl D Langefeld , P Nigel Leigh , Miranda C Marion , Russell L McLaughlin , Vincent Meininger , Judith Melki , Jack W Miller , Gabriele Mora , Margaret A Pericak-Vance , Evadnie Rampersaud , Wim Robberecht , Laurie P Russell , Francois Salachas , Christiaan G Saris , Aleksey Shatunov , Christopher E Shaw , Nailah Siddique , Teepu Siddique , Bradley N Smith , Robert Sufit , Simon Topp , Bryan J Traynor , Caroline Vance , Philip van Damme , Leonard H van den Berg , Michael A van Es , Paul W van Vught , Jan H Veldink , Yi Yang , J G Zheng , ALSGEN Consortium	2013-01-01	-
22444671	Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am. J. Hum. Genet. Bobby G Ng , Karl Hackmann , Melanie A Jones , Alexey M Eroshkin , Ping He , Roy Wiliams , Shruti Bhide , Vincent Cantagrel , Joseph G Gleeson , Amy S Paller , Rhonda E Schnur , Sigrid Tinschert , Janice Zunich , Madhuri R Hegde , Hudson H Freeze	2012-04-06	-
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	-
19460752	A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. J Biol Chem Man Lung Yeung , Laurent Houzet , Venkat S R K Yedavalli , Kuan-Teh Jeang	2009-07-17	-
17207965	hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Genomics Philippe Lamesch , Ning Li , Stuart Milstein , Changyu Fan , Tong Hao , Gabor Szabo , Zhenjun Hu , Kavitha Venkatesan , Graeme Bethel , Paul Martin , Jane Rogers , Stephanie Lawlor , Stuart McLaren , AmÃ©lie Dricot , Heather Borick , Michael E Cusick , Jean Vandenhaute , Ian Dunham , David E Hill , Marc Vidal	2007-03-01	GNPDA1, CTAGE4, BCL2L11, PIGK, TIMM23, NPIPA5, CST8, AP1M2, COX17, TIMM23B, SNX29P1, IL18BP, RWDD2B, TSSC4, UPK1A-AS1, ARPC5, ARPC3, TSPAN5, TSPAN3, TSPAN1, PPIF, CTDSP2, NAMPT, PDZK1IP1, DHRS9, RBM7, MPHOSPH6, DHRS2, MPZL2, GPA33, CALCOCO2, SPRY3, SPRY1, RAMP3, TRAIP, DNAJA2, IKZF1, CRISP3, SIRPB1, CNPY2, B3GNT3, WARS2, NPM3, CDO1, CACNG3, TUBB4B, CEPT1, PEMT, WFDC2, NSA2, EMG1, TIMM17A, PPIE, HAX1, CIB2, DCTN2, RPP38, SLC35A1, IFI44, CXCL13, SIVA1, MRPL28, CENPA, MAB21L2, RAD51AP1, MTX2, CGRRF1, DCTN6, B3GNT2, CLDN16, PNMA2, KLRA1P, SRSF10, ARPP21, STARD10, CGA, EDDM3A, CFHR3, GPR83, RAB10, CPSF4, RUNDC3A, COPS8, C11orf58, CCDC85B, GLIPR1, KLK11, SNRNP27, LIAS, LILRA2, SNRNP35, CYB561D2, ESM1, WDR5, BTN2A1, HHLA3, BVES, KLK8, MRPL3

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