Type | Description |
---|---|
Definition | mannosidase beta |
Date | Results | Publications |
---|---|---|
2019-06-08 11:52:00 | independent putative primary functional variants in NFKB1/MANBA and showed the distinct molecular mechanism by which each putative primary functional variant conferred susceptibility to Primary biliary cholangitis, were identified. | 30528300 |
2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20800603 |
2010-06-30 22:05:00 | Observational study of gene-disease association. (HuGE Navigator) | 20332099 |
2010-01-21 00:00:00 | The MANBA genotypes for a polymorphic CA repeat were related to colorectal cancer risk in a Swedish population but not a Chinese one. In the Swedish population, individuals with < 22 CAs/< 22 CAs had a significantly increased risk for CRC. | 17899454 |
2010-01-21 00:00:00 | The present analysis of the c.1922G>A MANBA mutation underlines the lack of genotype-phenotype correlation in beta-mannosidosis | 19728872 |
Type | IDs |
---|---|
Synonymous | MANB1 |
Gene |
UniProtKB-ID:
MANBA_HUMAN
UniprotKB:
O00462
UniParc:
UPI000013C8A2
EMBL:
U60337,
BC015743,
AF213884
Ensembl:
ENSG00000109323
KO:
hsa:4126
|
Nucleutide sequences |
EMBL-CDS:
AAF35233.1,
AAC39573.1,
AAH15743.1
Ensembl_TRS:
ENST00000647097
|
Protein sequencees |
Ensembl_PRO:
ENSP00000495247
RefSeq:
XP_016863693.1,
XP_024309817.1,
XP_024309816.1,
NP_005899.3,
XP_016863694.1,
XP_016863692.1
|
Others |
UniRef100:
UniRef100_O00462
UniRef90:
UniRef90_O00462
UniRef50:
UniRef50_O00462
UniGene:
Hs.480415
CCDS:
CCDS3658.1
|
{{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 |
---|---|---|---|
30552791 |
The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus. FEBS J. Heidi Gytz , Jason Liang , Yingke Liang , Alexei Gorelik , Katalin Illes , Bhushan Nagar |
2019-04-01 | - |
30528300 |
Cell Mol Gastroenterol Hepatol Yuki Hitomi , Ken Nakatani , Kaname Kojima , Nao Nishida , Yosuke Kawai , Minae Kawashima , Yoshihiro Aiba , Masao Nagasaki , Minoru Nakamura , Katsushi Tokunaga |
2019-01-01 | - |
29117863 |
BMC Biol Nila Roy Choudhury , Gregory Heikel , Maryia Trubitsyna , Peter Kubik , Jakub Stanislaw Nowak , Shaun Webb , Sander Granneman , Christos Spanos , Juri Rappsilber , Alfredo Castello , Gracjan Michlewski |
2017-11-08 | - |
28986522 |
Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Nat Commun Giulia Antoniali , Fabrizio Serra , Lisa Lirussi , Mikiei Tanaka , Chiara D'Ambrosio , Shiheng Zhang , Slobodanka Radovic , Emiliano Dalla , Yari Ciani , Andrea Scaloni , Mengxia Li , Silvano Piazza , Gianluca Tell |
2017-10-06 | - |
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 Wühr , 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 | - |
23128233 |
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature Luke Jostins , Stephan Ripke , Rinse K Weersma , Richard H Duerr , Dermot P McGovern , Ken Y Hui , James C Lee , L Philip Schumm , Yashoda Sharma , Carl A Anderson , Jonah Essers , Mitja Mitrovic , Kaida Ning , Isabelle Cleynen , Emilie Theatre , Sarah L Spain , Soumya Raychaudhuri , Philippe Goyette , Zhi Wei , Clara Abraham , Jean-Paul Achkar , Tariq Ahmad , Leila Amininejad , Ashwin N Ananthakrishnan , Vibeke Andersen , Jane M Andrews , Leonard Baidoo , Tobias Balschun , Peter A Bampton , Alain Bitton , Gabrielle Boucher , Stephan Brand , Carsten Büning , Ariella Cohain , Sven Cichon , Mauro D'Amato , Dirk De Jong , Kathy L Devaney , Marla Dubinsky , Cathryn Edwards , David Ellinghaus , Lynnette R Ferguson , Denis Franchimont , Karin Fransen , Richard Gearry , Michel Georges , Christian Gieger , Jürgen Glas , Talin Haritunians , Ailsa Hart , Chris Hawkey , Matija Hedl , Xinli Hu , Tom H Karlsen , Limas Kupcinskas , Subra Kugathasan , Anna Latiano , Debby Laukens , Ian C Lawrance , Charlie W Lees , Edouard Louis , Gillian Mahy , John Mansfield , Angharad R Morgan , Craig Mowat , William Newman , Orazio Palmieri , Cyriel Y Ponsioen , Uros Potocnik , Natalie J Prescott , Miguel Regueiro , Jerome I Rotter , Richard K Russell , Jeremy D Sanderson , Miquel Sans , Jack Satsangi , Stefan Schreiber , Lisa A Simms , Jurgita Sventoraityte , Stephan R Targan , Kent D Taylor , Mark Tremelling , Hein W Verspaget , Martine De Vos , Cisca Wijmenga , David C Wilson , Juliane Winkelmann , Ramnik J Xavier , Sebastian Zeissig , Bin Zhang , Clarence K Zhang , Hongyu Zhao , International IBD Genetics Consortium (IIBDGC) , Mark S Silverberg , Vito Annese , Hakon Hakonarson , Steven R Brant , Graham Radford-Smith , Christopher G Mathew , John D Rioux , Eric E Schadt , Mark J Daly , Andre Franke , Miles Parkes , Severine Vermeire , Jeffrey C Barrett , Judy H Cho |
2012-11-01 | - |
22268729 |
J. Proteome Res. Bin Liu , Ying Zheng , Tong-Dan Wang , Han-Zhang Xu , Li Xia , Jian Zhang , Ying-Li Wu , Guo-Qiang Chen , Li-Shun Wang |
2012-03-02 | - |
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 | - |
21833088 |
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature International Multiple Sclerosis Genetics Consortium , Wellcome Trust Case Control Consortium 2 , Stephen Sawcer , Garrett Hellenthal , Matti Pirinen , Chris C A Spencer , Nikolaos A Patsopoulos , Loukas Moutsianas , Alexander Dilthey , Zhan Su , Colin Freeman , Sarah E Hunt , Sarah Edkins , Emma Gray , David R Booth , Simon C Potter , An Goris , Gavin Band , Annette Bang Oturai , Amy Strange , Janna Saarela , Céline Bellenguez , Bertrand Fontaine , Matthew Gillman , Bernhard Hemmer , Rhian Gwilliam , Frauke Zipp , Alagurevathi Jayakumar , Roland Martin , Stephen Leslie , Stanley Hawkins , Eleni Giannoulatou , Sandra D'alfonso , Hannah Blackburn , Filippo Martinelli Boneschi , Jennifer Liddle , Hanne F Harbo , Marc L Perez , Anne Spurkland , Matthew J Waller , Marcin P Mycko , Michelle Ricketts , Manuel Comabella , Naomi Hammond , Ingrid Kockum , Owen T McCann , Maria Ban , Pamela Whittaker , Anu Kemppinen , Paul Weston , Clive Hawkins , Sara Widaa , John Zajicek , Serge Dronov , Neil Robertson , Suzannah J Bumpstead , Lisa F Barcellos , Rathi Ravindrarajah , Roby Abraham , Lars Alfredsson , Kristin Ardlie , Cristin Aubin , Amie Baker , Katharine Baker , Sergio E Baranzini , Laura Bergamaschi , Roberto Bergamaschi , Allan Bernstein , Achim Berthele , Mike Boggild , Jonathan P Bradfield , David Brassat , Simon A Broadley , Dorothea Buck , Helmut Butzkueven , Ruggero Capra , William M Carroll , Paola Cavalla , Elisabeth G Celius , Sabine Cepok , Rosetta Chiavacci , Françoise Clerget-Darpoux , Katleen Clysters , Giancarlo Comi , Mark Cossburn , Isabelle Cournu-Rebeix , Mathew B Cox , Wendy Cozen , Bruce A C Cree , Anne H Cross , Daniele Cusi , Mark J Daly , Emma Davis , Paul I W de Bakker , Marc Debouverie , Marie Beatrice D'hooghe , Katherine Dixon , Rita Dobosi , Bénédicte Dubois , David Ellinghaus , Irina Elovaara , Federica Esposito , Claire Fontenille , Simon Foote , Andre Franke , Daniela Galimberti , Angelo Ghezzi , Joseph Glessner , Refujia Gomez , Olivier Gout , Colin Graham , Struan F A Grant , Franca Rosa Guerini , Hakon Hakonarson , Per Hall , Anders Hamsten , Hans-Peter Hartung , Rob N Heard , Simon Heath , Jeremy Hobart , Muna Hoshi , Carmen Infante-Duarte , Gillian Ingram , Wendy Ingram , Talat Islam , Maja Jagodic , Michael Kabesch , Allan G Kermode , Trevor J Kilpatrick , Cecilia Kim , Norman Klopp , Keijo Koivisto , Malin Larsson , Mark Lathrop , Jeannette S Lechner-Scott , Maurizio A Leone , Virpi Leppä , Ulrika Liljedahl , Izaura Lima Bomfim , Robin R Lincoln , Jenny Link , Jianjun Liu , Aslaug R Lorentzen , Sara Lupoli , Fabio Macciardi , Thomas Mack , Mark Marriott , Vittorio Martinelli , Deborah Mason , Jacob L McCauley , Frank Mentch , Inger-Lise Mero , Tania Mihalova , Xavier Montalban , John Mottershead , Kjell-Morten Myhr , Paola Naldi , William Ollier , Alison Page , Aarno Palotie , Jean Pelletier , Laura Piccio , Trevor Pickersgill , Fredrik Piehl , Susan Pobywajlo , Hong L Quach , Patricia P Ramsay , Mauri Reunanen , Richard Reynolds , John D Rioux , Mariaemma Rodegher , Sabine Roesner , Justin P Rubio , Ina-Maria Rückert , Marco Salvetti , Erika Salvi , Adam Santaniello , Catherine A Schaefer , Stefan Schreiber , Christian Schulze , Rodney J Scott , Finn Sellebjerg , Krzysztof W Selmaj , David Sexton , Ling Shen , Brigid Simms-Acuna , Sheila Skidmore , Patrick M A Sleiman , Cathrine Smestad , Per Soelberg Sørensen , Helle Bach Søndergaard , Jim Stankovich , Richard C Strange , Anna-Maija Sulonen , Emilie Sundqvist , Ann-Christine Syvänen , Francesca Taddeo , Bruce Taylor , Jenefer M Blackwell , Pentti Tienari , Elvira Bramon , Ayman Tourbah , Matthew A Brown , Ewa Tronczynska , Juan P Casas , Niall Tubridy , Aiden Corvin , Jane Vickery , Janusz Jankowski , Pablo Villoslada , Hugh S Markus , Kai Wang , Christopher G Mathew , James Wason , Colin N A Palmer , H-Erich Wichmann , Robert Plomin , Ernest Willoughby , Anna Rautanen , Juliane Winkelmann , Michael Wittig , Richard C Trembath , Jacqueline Yaouanq , Ananth C Viswanathan , Haitao Zhang , Nicholas W Wood , Rebecca Zuvich , Panos Deloukas , Cordelia Langford , Audrey Duncanson , Jorge R Oksenberg , Margaret A Pericak-Vance , Jonathan L Haines , Tomas Olsson , Jan Hillert , Adrian J Ivinson , Philip L De Jager , Leena Peltonen , Graeme J Stewart , David A Hafler , Stephen L Hauser , Gil McVean , Peter Donnelly , Alastair Compston |
2011-08-10 | - |
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