Type | Description |
---|---|
Definition | SIL1 nucleotide exchange factor |
Date | Results | Publications |
---|---|---|
2019-12-28 11:02:00 | SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human. The data expand the spectrum of tissues affected by SIL1-loss and suggest that impaired neuromuscular transmission might be part of Marinesco-Sjogren Syndrome pathophysiology. | 30468864 |
2019-07-27 10:26:00 | single-molecule FRET experiments with mammalian proteins reveal that Bap affects the conformation of both BiP domains, including the lid subdomain, which is important for substrate binding | 29323281 |
2019-05-25 12:28:00 | Findings indicate that SIL1 deficiency alters secretory transport, potentially contributing to the cellular pathology of Marinesco-Sjogren syndrome. | 30293566 |
2018-01-27 10:50:00 | SIL1-depleted HEK293 cells are an appropriate model to identify proteins modulated by SIL1 expression level. | 26468156 |
2017-09-23 12:46:00 | In a child with Marinesco-Sjogren syndrome it was found that a mutation in SIL1 affected the translation initiation site and the endoplasmic reticulum-targeting signal sequence. | 27544240 |
Type | IDs |
---|---|
Synonymous | BAP, MSS, ULG5 |
Gene |
UniProtKB-ID:
SIL1_HUMAN,
A0A0S2Z6B4_HUMAN
UniprotKB:
Q9H173,
A0A0S2Z6B4
UniParc:
UPI000003ED21
EMBL:
AY358950,
CH471062,
AK075177,
KU178743,
AF547994,
AJ299442,
AK074624,
BC011568
Ensembl:
ENSG00000120725
KO:
hsa:64374
|
Nucleutide sequences |
EMBL-CDS:
EAW62121.1,
EAW62120.1,
BAC11096.1,
AAH11568.1,
BAC11452.1,
AAQ89309.1,
CAC17773.1,
AAN84477.1,
ALQ34201.1
Gene_ORFName:
UNQ545/PRO836
Ensembl_TRS:
ENST00000394817,
ENST00000265195
|
Protein sequencees |
Ensembl_PRO:
ENSP00000378294,
ENSP00000265195
RefSeq:
XP_024301932.1,
NP_071909.1,
XP_011541872.1,
NP_001032722.1
|
Others |
UniRef100:
UniRef100_Q9H173
UniRef90:
UniRef90_Q9H173
UniRef50:
UniRef50_Q9H173
UniGene:
Hs.483521
CCDS:
CCDS4209.1
|
{{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.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
暂无数据
Pubmed编号 | 文献信息 | 发表日期 | 相关基因 |
---|---|---|---|
32838362 |
Med (N Y) Jingjiao Li , Mingquan Guo , Xiaoxu Tian , Xin Wang , Xing Yang , Ping Wu , Chengrong Liu , Zixuan Xiao , Yafei Qu , Yue Yin , Chunxia Wang , Yucai Zhang , Zhaoqin Zhu , Zhenshan Liu , Chao Peng , Tongyu Zhu , Qiming Liang |
2021-01-15 | - |
33060197 |
Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms. Science David E Gordon , Joseph Hiatt , Mehdi Bouhaddou , Veronica V Rezelj , Svenja Ulferts , Hannes Braberg , Alexander S Jureka , Kirsten Obernier , Jeffrey Z Guo , Jyoti Batra , Robyn M Kaake , Andrew R Weckstein , Tristan W Owens , Meghna Gupta , Sergei Pourmal , Erron W Titus , Merve Cakir , Margaret Soucheray , Michael McGregor , Zeynep Cakir , Gwendolyn Jang , Matthew J O'Meara , Tia A Tummino , Ziyang Zhang , Helene Foussard , Ajda Rojc , Yuan Zhou , Dmitry Kuchenov , Ruth Hüttenhain , Jiewei Xu , Manon Eckhardt , Danielle L Swaney , Jacqueline M Fabius , Manisha Ummadi , Beril Tutuncuoglu , Ujjwal Rathore , Maya Modak , Paige Haas , Kelsey M Haas , Zun Zar Chi Naing , Ernst H Pulido , Ying Shi , Inigo Barrio-Hernandez , Danish Memon , Eirini Petsalaki , Alistair Dunham , Miguel Correa Marrero , David Burke , Cassandra Koh , Thomas Vallet , Jesus A Silvas , Caleigh M Azumaya , Christian Billesbølle , Axel F Brilot , Melody G Campbell , Amy Diallo , Miles Sasha Dickinson , Devan Diwanji , Nadia Herrera , Nick Hoppe , Huong T Kratochvil , Yanxin Liu , Gregory E Merz , Michelle Moritz , Henry C Nguyen , Carlos Nowotny , Cristina Puchades , Alexandrea N Rizo , Ursula Schulze-Gahmen , Amber M Smith , Ming Sun , Iris D Young , Jianhua Zhao , Daniel Asarnow , Justin Biel , Alisa Bowen , Julian R Braxton , Jen Chen , Cynthia M Chio , Un Seng Chio , Ishan Deshpande , Loan Doan , Bryan Faust , Sebastian Flores , Mingliang Jin , Kate Kim , Victor L Lam , Fei Li , Junrui Li , Yen-Li Li , Yang Li , Xi Liu , Megan Lo , Kyle E Lopez , Arthur A Melo , Frank R Moss , Phuong Nguyen , Joana Paulino , Komal Ishwar Pawar , Jessica K Peters , Thomas H Pospiech , Maliheh Safari , Smriti Sangwan , Kaitlin Schaefer , Paul V Thomas , Aye C Thwin , Raphael Trenker , Eric Tse , Tsz Kin Martin Tsui , Feng Wang , Natalie Whitis , Zanlin Yu , Kaihua Zhang , Yang Zhang , Fengbo Zhou , Daniel Saltzberg , QCRG Structural Biology Consortium , Anthony J Hodder , Amber S Shun-Shion , Daniel M Williams , Kris M White , Romel Rosales , Thomas Kehrer , Lisa Miorin , Elena Moreno , Arvind H Patel , Suzannah Rihn , Mir M Khalid , Albert Vallejo-Gracia , Parinaz Fozouni , Camille R Simoneau , Theodore L Roth , David Wu , Mohd Anisul Karim , Maya Ghoussaini , Ian Dunham , Francesco Berardi , Sebastian Weigang , Maxime Chazal , Jisoo Park , James Logue , Marisa McGrath , Stuart Weston , Robert Haupt , C James Hastie , Matthew Elliott , Fiona Brown , Kerry A Burness , Elaine Reid , Mark Dorward , Clare Johnson , Stuart G Wilkinson , Anna Geyer , Daniel M Giesel , Carla Baillie , Samantha Raggett , Hannah Leech , Rachel Toth , Nicola Goodman , Kathleen C Keough , Abigail L Lind , Zoonomia Consortium , Reyna J Klesh , Kafi R Hemphill , Jared Carlson-Stevermer , Jennifer Oki , Kevin Holden , Travis Maures , Katherine S Pollard , Andrej Sali , David A Agard , Yifan Cheng , James S Fraser , Adam Frost , Natalia Jura , Tanja Kortemme , Aashish Manglik , Daniel R Southworth , Robert M Stroud , Dario R Alessi , Paul Davies , Matthew B Frieman , Trey Ideker , Carmen Abate , Nolwenn Jouvenet , Georg Kochs , Brian Shoichet , Melanie Ott , Massimo Palmarini , Kevan M Shokat , Adolfo GarcÃa-Sastre , Jeremy A Rassen , Robert Grosse , Oren S Rosenberg , Kliment A Verba , Christopher F Basler , Marco Vignuzzi , Andrew A Peden , Pedro Beltrao , Nevan J Krogan |
2020-12-04 | - |
32353859 |
A SARS-CoV-2 protein interaction map reveals targets for drug repurposing. Nature David E Gordon , Gwendolyn M Jang , Mehdi Bouhaddou , Jiewei Xu , Kirsten Obernier , Kris M White , Matthew J O'Meara , Veronica V Rezelj , Jeffrey Z Guo , Danielle L Swaney , Tia A Tummino , Ruth Hüttenhain , Robyn M Kaake , Alicia L Richards , Beril Tutuncuoglu , Helene Foussard , Jyoti Batra , Kelsey Haas , Maya Modak , Minkyu Kim , Paige Haas , Benjamin J Polacco , Hannes Braberg , Jacqueline M Fabius , Manon Eckhardt , Margaret Soucheray , Melanie J Bennett , Merve Cakir , Michael J McGregor , Qiongyu Li , Bjoern Meyer , Ferdinand Roesch , Thomas Vallet , Alice Mac Kain , Lisa Miorin , Elena Moreno , Zun Zar Chi Naing , Yuan Zhou , Shiming Peng , Ying Shi , Ziyang Zhang , Wenqi Shen , Ilsa T Kirby , James E Melnyk , John S Chorba , Kevin Lou , Shizhong A Dai , Inigo Barrio-Hernandez , Danish Memon , Claudia Hernandez-Armenta , Jiankun Lyu , Christopher J P Mathy , Tina Perica , Kala Bharath Pilla , Sai J Ganesan , Daniel J Saltzberg , Ramachandran Rakesh , Xi Liu , Sara B Rosenthal , Lorenzo Calviello , Srivats Venkataramanan , Jose Liboy-Lugo , Yizhu Lin , Xi-Ping Huang , YongFeng Liu , Stephanie A Wankowicz , Markus Bohn , Maliheh Safari , Fatima S Ugur , Cassandra Koh , Nastaran Sadat Savar , Quang Dinh Tran , Djoshkun Shengjuler , Sabrina J Fletcher , Michael C O'Neal , Yiming Cai , Jason C J Chang , David J Broadhurst , Saker Klippsten , Phillip P Sharp , Nicole A Wenzell , Duygu Kuzuoglu-Ozturk , Hao-Yuan Wang , Raphael Trenker , Janet M Young , Devin A Cavero , Joseph Hiatt , Theodore L Roth , Ujjwal Rathore , Advait Subramanian , Julia Noack , Mathieu Hubert , Robert M Stroud , Alan D Frankel , Oren S Rosenberg , Kliment A Verba , David A Agard , Melanie Ott , Michael Emerman , Natalia Jura , Mark von Zastrow , Eric Verdin , Alan Ashworth , Olivier Schwartz , Christophe d'Enfert , Shaeri Mukherjee , Matt Jacobson , Harmit S Malik , Danica G Fujimori , Trey Ideker , Charles S Craik , Stephen N Floor , James S Fraser , John D Gross , Andrej Sali , Bryan L Roth , Davide Ruggero , Jack Taunton , Tanja Kortemme , Pedro Beltrao , Marco Vignuzzi , Adolfo GarcÃa-Sastre , Kevan M Shokat , Brian K Shoichet , Nevan J Krogan |
2020-07-01 | - |
32694731 |
Nat Metab Michael Aregger , Keith A Lawson , Maximillian Billmann , Michael Costanzo , Amy H Y Tong , Katherine Chan , Mahfuzur Rahman , Kevin R Brown , Catherine Ross , Matej Usaj , Lucy Nedyalkova , Olga Sizova , Andrea Habsid , Judy Pawling , Zhen-Yuan Lin , Hala Abdouni , Cassandra J Wong , Alexander Weiss , Patricia Mero , James W Dennis , Anne-Claude Gingras , Chad L Myers , Brenda J Andrews , Charles Boone , Jason Moffat |
2020-06-01 | - |
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 Coté , Meaghan Daley , Steven Deimling , Alice Desbuleux , Amélie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , István A Kovács , 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 | - |
31536960 |
iScience Mohamed Taha Moutaoufik , Ramy Malty , Shahreen Amin , Qingzhou Zhang , Sadhna Phanse , Alla Gagarinova , Mara Zilocchi , Larissa Hoell , Zoran Minic , Maria Gagarinova , Hiroyuki Aoki , Jocelyn Stockwell , Matthew Jessulat , Florian Goebels , Kirsten Broderick , Nichollas E Scott , James Vlasblom , Gabriel Musso , Bhanu Prasad , Eleonora Lamantea , Barbara Garavaglia , Alex Rajput , Kei Murayama , Yasushi Okazaki , Leonard J Foster , Gary D Bader , Francisco S Cayabyab , Mohan Babu |
2019-09-27 | - |
30468864 |
Neurobiol Dis Vietxuan Phan , Dan Cox , Silvia Cipriani , Sally Spendiff , Stephan Buchkremer , Emily O'Connor , Rita Horvath , Hans Hilmar Goebel , Denisa Hathazi , Hanns Lochmüller , Tatjana Straka , Rüdiger Rudolf , Joachim Weis , Andreas Roos |
2019-04-01 | - |
30293566 |
Biochim Biophys Acta Mol Basis Dis Vanessa Capone , Emanuela Clemente , Elena Restelli , Antonella Di Campli , Samantha Sperduti , Francesca Ornaghi , Laura Pietrangelo , Feliciano Protasi , Roberto Chiesa , Michele Sallese |
2018-10-01 | - |
29323281 |
Bap (Sil1) regulates the molecular chaperone BiP by coupling release of nucleotide and substrate. Nat. Struct. Mol. Biol. Mathias Rosam , Daniela Krader , Christina Nickels , Janine Hochmair , Katrin C Back , Ganesh Agam , Anders Barth , Cathleen Zeymer , Jelle Hendrix , Markus Schneider , Iris Antes , Jochen Reinstein , Don C Lamb , Johannes Buchner |
2018-01-01 | - |
28675297 |
A Human Tyrosine Phosphatase Interactome Mapped by Proteomic Profiling. J Proteome Res Parveen Kumar , Prathyusha Munnangi , Kvs Rammohan Chowdary , Varun J Shah , Swapnil R Shinde , Nanci R Kolli , Rachita R Halehalli , Hampapathalu A Nagarajaram , Subbareddy Maddika |
2017-08-04 | - |
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