PHYKPL - 5-phosphohydroxy-L-lysine phospho-lyase-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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85007 PHYKPL

基因描述

Type	Description
Definition	5-phosphohydroxy-L-lysine phospho-lyase

研究结论

Date	Results	Publications
2014-07-19 11:52:00	Phosphohydroxylysinuria is due to mutations in the AGXT2L2 gene and the resulting lack of activity of phosphohydroxylysine phospholyase in vivo.	23242558
2010-12-05 22:08:00	Observational study of gene-disease association. (HuGE Navigator)	20877624

名称对应

Type	IDs
Synonymous	AGXT2L2, PHLU
Gene	UniProtKB-ID: AT2L2_HUMAN UniprotKB: Q8IUZ5 UniParc: UPI000006EE12, UPI000006D966, UPI00000746D3 EMBL: AK292061, BC008009, AK023470, AC136601, CH471165, AF318375, BC110335, AC136632, BC037567 Ensembl: ENSG00000175309 KO: hsa:85007
Nucleutide sequences	EMBL-CDS: EAW53836.1, AAH08009.1, AAI10336.1, BAF84750.1, AAL55882.1, AAH37567.1, EAW53841.1, BAG51198.1 Gene_ORFName: PP9286 Ensembl_TRS: ENST00000308158
Protein sequencees	Ensembl_PRO: ENSP00000310978 RefSeq: XP_024302009.1, XP_024302014.1, XP_011532974.1, NP_699204.1, XP_016865484.1, XP_024302008.1, XP_011532972.1, XP_024302016.1, XP_011532971.1, XP_011532973.1, XP_024302020.1, XP_024302018.1, XP_024302015.1, XP_016865488.1, XP_024302013.1, XP_024302011.1, NP_001265275.1, XP_016865487.1, XP_024302012.1, XP_024302019.1, XP_024302010.1, XP_011532976.1, XP_024302017.1, XP_006714988.1
Others	UniRef100: UniRef100_Q8IUZ5 UniRef90: UniRef90_Q8IUZ5 UniRef50: UniRef50_Q8IUZ5 UniGene: Hs.248746 CCDS: CCDS4434.1

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
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	-
31515488	Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Nat Commun Robert Fragoza , Jishnu Das , Shayne D Wierbowski , Jin Liang , Tina N Tran , Siqi Liang , Juan F Beltran , Christen A Rivera-Erick , Kaixiong Ye , Ting-Yi Wang , Li Yao , Matthew Mort , Peter D Stenson , David N Cooper , Xiaomu Wei , Alon Keinan , John C Schimenti , Andrew G Clark , Haiyuan Yu	2019-09-12	-
29892012	An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Nat Genet Siwei Chen , Robert Fragoza , Lambertus Klei , Yuan Liu , Jiebiao Wang , Kathryn Roeder , Bernie Devlin , Haiyuan Yu	2018-07-01	-
28611215	Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Proc. Natl. Acad. Sci. U.S.A. Teng Fei , Yiwen Chen , Tengfei Xiao , Wei Li , Laura Cato , Peng Zhang , Maura B Cotter , Michaela Bowden , Rosina T Lis , Shuang G Zhao , Qiu Wu , Felix Y Feng , Massimo Loda , Housheng Hansen He , X Shirley Liu , Myles Brown	2017-06-27	-
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	-
26496610	A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell Marco Y Hein , Nina C Hubner , Ina Poser , JÃ¼rgen Cox , Nagarjuna Nagaraj , Yusuke Toyoda , Igor A Gak , Ina Weisswange , JÃ¶rg Mansfeld , Frank Buchholz , Anthony A Hyman , Matthias Mann	2015-10-22	Cep85l, Rcc1, Zbtb48, Bsdc1, Kifc1, Ccp110, Ints4, Slc6a8, Cenpi, Nup107, Xpo1, Fbxw11, Tubg1, Csnk1d, Bap1, Ptpn23, Tecpr2, Slain1, Ankrd28, Prkaa1, Espl1, Gbf1, Cdc20, Cenpf, Trip11, Mbd5, Kif22, Dut, Srsf1, Actb, Spred2, Akt2, Mta1, Tgs1, Pip4k2c, Ankfy1, Apc, Ar, Rhoa, Atp2a2, Atp5a1, Atp7a, Cep131, Bach1, Bcl7c, Bmpr1a, Brca1, Bub1, Bub1b, C1qbp, Anxa2, Calu, Cbx1, Cbx4, Cct2, Cct3, Cct4, Cct7, Cct8, Cd2ap, Cdk1, Cdc37, Cdh1, Chek1, Cit, Copa, Crebbp, Cry1, Csk, Smc3, Dctn1, Ddb1, Cdk2ap1, Mapre1, Ect2, Eef1a1, Eif3a, Mark2, Evpl, Ewsr1, Wdr5, Dclre1b, Fbl, Fgfr1, Flot1, Flot2, B4galt1, Gnb1, Gspt1, Hdac6, Herc2, Hsf1, Hsph1, Elavl1, Id2, Cyr61, Cep250, Insr, Eif3e
25416956	A proteome-scale map of the human interactome network. Cell Thomas Rolland , Murat TaÅan , Benoit Charloteaux , Samuel J Pevzner , Quan Zhong , Nidhi Sahni , Song Yi , Irma Lemmens , Celia Fontanillo , Roberto Mosca , Atanas Kamburov , Susan D Ghiassian , Xinping Yang , Lila Ghamsari , Dawit Balcha , Bridget E Begg , Pascal Braun , Marc Brehme , Martin P Broly , Anne-Ruxandra Carvunis , Dan Convery-Zupan , Roser Corominas , Jasmin Coulombe-Huntington , Elizabeth Dann , Matija Dreze , AmÃ©lie Dricot , Changyu Fan , Eric Franzosa , Fana Gebreab , Bryan J Gutierrez , Madeleine F Hardy , Mike Jin , Shuli Kang , Ruth Kiros , Guan Ning Lin , Katja Luck , Andrew MacWilliams , JÃ¶rg Menche , Ryan R Murray , Alexandre Palagi , Matthew M Poulin , Xavier Rambout , John Rasla , Patrick Reichert , Viviana Romero , Elien Ruyssinck , Julie M Sahalie , Annemarie Scholz , Akash A Shah , Amitabh Sharma , Yun Shen , Kerstin Spirohn , Stanley Tam , Alexander O Tejeda , Shelly A Trigg , Jean-Claude Twizere , Kerwin Vega , Jennifer Walsh , Michael E Cusick , Yu Xia , Albert-LÃ¡szlÃ³ BarabÃ¡si , Lilia M Iakoucheva , Patrick Aloy , Javier De Las Rivas , Jan Tavernier , Michael A Calderwood , David E Hill , Tong Hao , Frederick P Roth , Marc Vidal	2014-11-20	-
23242558	Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria. J. Inherit. Metab. Dis. Maria Veiga-da-Cunha , Nanda M Verhoeven-Duif , Tom J de Koning , Marinus Duran , Bert Dorland , Emile Van Schaftingen	2013-11-01	-
22241472	Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine. J Biol Chem Maria Veiga-da-Cunha , Farah Hadi , Thomas Balligand , Vincent Stroobant , Emile Van Schaftingen	2012-03-02	-

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