STXBP5L - syntaxin binding protein 5 like-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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9515 STXBP5L

基因描述

Type	Description
Definition	syntaxin binding protein 5 like

研究结论

Date	Results	Publications
2016-01-16 11:10:00	Homozygous mutation of STXBP5L is associated with autosomal recessive infantile-onset neurodegenerative disorder.	25504045
2015-03-23 17:22:00	A homozygous nonsynonymous mutation in STXBP5L (c.3127G>A, p.Val1043Ile [CCDS43137.1]) was implicated in an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit.	25504045
2013-05-11 10:47:00	In skin aging rs322458, was in linkage disequilibrium (LD) with intronic single nucleotide polymorphisms of the STXBP5L gene, which is expressed in the skin.	23223146
2010-06-30 22:04:00	Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)	20379614
2009-08-12 21:34:00	Observational study of gene-disease association. (HuGE Navigator)	19586676

名称对应

Type	IDs
Synonymous	LLGL4
Gene	UniProtKB-ID: STB5L_HUMAN, B4DKF6_HUMAN, E9PFI2_HUMAN UniprotKB: Q9Y2K9, B4DKF6, E9PFI2 UniParc: UPI00017A7392, UPI0001B795C4, UPI00001C1DEA, UPI000056D3BF EMBL: AC078854, AC072026, AC079841, AC112483, BC022029, AC078857, KF457676, AK296544, BC037531, AC128659, AB023223 Ensembl: ENSG00000145087 KO: hsa:9515
Nucleutide sequences	EMBL-CDS: AAH22029.1, AAH37531.1, BAA76850.1, BAG59168.1 Ensembl_TRS: ENST00000461772, ENST00000273666, ENST00000471454
Protein sequencees	Ensembl_PRO: ENSP00000420642, ENSP00000273666, ENSP00000420019 RefSeq: NP_001335272.1, NP_001335274.1, XP_016863023.1, NP_001335273.1, XP_011511633.1, XP_006713888.1, NP_055795.1, XP_016863024.1, XP_024309600.1, XP_011511635.1, NP_001295259.1, XP_011511634.1
Others	UniRef100: UniRef100_Q9Y2K9, UniRef100_E9PFI2, UniRef100_B4DKF6 UniRef90: UniRef90_Q5DQR4, UniRef90_Q5DQR4-6 UniRef50: UniRef50_Q5DQR4 UniGene: Hs.477315 CCDS: CCDS43137.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Location

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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	-
29987050	Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Proc. Natl. Acad. Sci. U.S.A. Tengfei Xiao , Wei Li , Xiaoqing Wang , Han Xu , Jixin Yang , Qiu Wu , Ying Huang , Joseph Geradts , Peng Jiang , Teng Fei , David Chi , Chongzhi Zang , Qi Liao , Jonathan Rennhack , Eran Andrechek , Nanlin Li , Simone Detre , Mitchell Dowsett , Rinath M Jeselsohn , X Shirley Liu , Myles Brown	2018-07-31	-
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	-
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	-
25504045	Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. Hum. Mol. Genet. Raman Kumar , Mark A Corbett , Nicholas J C Smith , Lachlan A Jolly , Chuan Tan , Damien J Keating , Michael D Duffield , Toshihiko Utsumi , Koko Moriya , Katherine R Smith , Alexander Hoischen , Kim Abbott , Michael G Harbord , Alison G Compton , Joshua A Woenig , Peer Arts , Michael Kwint , Nienke Wieskamp , Sabine Gijsen , Joris A Veltman , Melanie Bahlo , Joseph G Gleeson , Eric Haan , Jozef Gecz	2015-04-01	STXBP5L
25002582	Phosphorylation and degradation of tomosyn-2 de-represses insulin secretion. J. Biol. Chem. Sushant Bhatnagar , Mufaddal S Soni , Lindsay S Wrighton , Alexander S Hebert , Amber S Zhou , Pradyut K Paul , Trillian Gregg , Mary E Rabaglia , Mark P Keller , Joshua J Coon , Alan D Attie	2014-09-05	-
24554482	Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. J. Neurovirol. Paul D Leger , Daniel H Johnson , Gregory K Robbins , Robert W Shafer , David B Clifford , Jun Li , Paul J McLaren , David W Haas	2014-06-01	-
23223146	A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging. J. Invest. Dermatol. Sigrid Le Clerc , Lieng Taing , Khaled Ezzedine , Julie Latreille , Olivier Delaneau , Toufik Labib , CÃ©dric Coulonges , Anne Bernard , Safa Melak , Wassila Carpentier , Denis Malvy , Randa Jdid , Pilar Galan , Serge Hercberg , Frederique Morizot , Christiane Guinot , Erwin Tschachler , Jean F Zagury	2013-04-01	POLQ, FBXO40, STXBP5L
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	-

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