| Type | Description |
|---|---|
| Definition | phosphatidylinositol glycan anchor biosynthesis class V |
| Date | Results | Publications |
|---|---|---|
| 2015-02-07 12:06:00 | Data indicate that mannosyltransferases PIGV mutations are the major cause of hyperphosphatasia-mental retardation syndrome (HPMRS) which displays a broad clinical variability regarding associated malformations and growth patterns. | 24129430 |
| 2014-03-15 11:58:00 | PIGV is the rate-limiting enzyme in GPI biosynthesis under limited dolicholphosphate mannose availability. | 23694781 |
| 2012-04-28 11:45:00 | Hyperphosphatasia resulted from secretion of ALP, a GPI-anchored protein normally expressed on the cell surface, into serum due to PIGV deficiency. | 22228761 |
| 2011-11-26 10:36:00 | novel compound heterozygous mutations in the PIGV gene c.467G>A and c.1022C>A and a homozygous mutation c.1022C>A in hyperphosphatasia-mental retardation syndrome | 21739589 |
| 2010-10-30 11:14:00 | PIGV mutations are associated with hyperphosphatasia mental retardation syndrome. | 20802478 |
| Type | IDs |
|---|---|
| Synonymous | GPI-MT-II, HPMRS1, PIG-V |
| Gene |
UniProtKB-ID:
PIGV_HUMAN
UniprotKB:
Q9NUD9
UniParc:
UPI000004A060
EMBL:
AK000484,
AL034380,
BC013568,
CH471059
Ensembl:
ENSG00000060642
KO:
hsa:55650
|
| Nucleutide sequences |
EMBL-CDS:
EAX07792.1,
BAA91196.1,
AAH13568.1,
EAX07790.1,
EAX07791.1
Ensembl_TRS:
ENST00000674202,
ENST00000078527,
ENST00000674273,
ENST00000455364,
ENST00000674222,
ENST00000374145
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000078527,
ENSP00000406080,
ENSP00000363260,
ENSP00000501527,
ENSP00000501479,
ENSP00000501335
RefSeq:
NP_001361412.1,
NP_001361410.1,
NP_001361409.1,
NP_060307.2,
NP_001361415.1,
NP_001361414.1,
NP_001361407.1,
NP_001361411.1,
NP_001189483.1,
NP_001361413.1
|
| Others |
UniRef100:
UniRef100_Q9NUD9
UniRef90:
UniRef90_Q9NUD9
UniRef50:
UniRef50_Q9NUD9
UniGene:
Hs.259605,
Hs.732254
CCDS:
CCDS287.1
|
| {{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 |
|---|---|---|---|
| 32814053 |
Cell Rep Christian Haenig , Nir Atias , Alexander K Taylor , Arnon Mazza , Martin H Schaefer , Jenny Russ , Sean-Patrick Riechers , Shushant Jain , Maura Coughlin , Jean-Fred Fontaine , Brian D Freibaum , Lydia Brusendorf , Martina Zenkner , Pablo Porras , Martin Stroedicke , Sigrid Schnoegl , Kristin Arnsburg , Annett Boeddrich , Lucia Pigazzini , Peter Heutink , J Paul Taylor , Janine Kirstein , Miguel A Andrade-Navarro , Roded Sharan , Erich E Wanker |
2020-08-18 | - |
| 24129430 |
Eur. J. Hum. Genet. Denise Horn , Dagmar Wieczorek , Kay Metcalfe , Ivo BariÄ , Lidija Paležac , Mario Cuk , Danijela PetkoviÄ Ramadža , Ulrike Krüger , Stephanie Demuth , Wolfram Heinritz , Tobias Linden , Jens Koenig , Peter N Robinson , Peter Krawitz |
2014-06-01 |
PIGV
|
| 24097068 |
Discovery and refinement of loci associated with lipid levels. Nat. Genet. Cristen J Willer , Ellen M Schmidt , Sebanti Sengupta , Gina M Peloso , Stefan Gustafsson , Stavroula Kanoni , Andrea Ganna , Jin Chen , Martin L Buchkovich , Samia Mora , Jacques S Beckmann , Jennifer L Bragg-Gresham , Hsing-Yi Chang , AyÅe Demirkan , Heleen M Den Hertog , Ron Do , Louise A Donnelly , Georg B Ehret , Tõnu Esko , Mary F Feitosa , Teresa Ferreira , Krista Fischer , Pierre Fontanillas , Ross M Fraser , Daniel F Freitag , Deepti Gurdasani , Kauko Heikkilä , Elina Hyppönen , Aaron Isaacs , Anne U Jackson , à sa Johansson , Toby Johnson , Marika Kaakinen , Johannes Kettunen , Marcus E Kleber , Xiaohui Li , Jian'an Luan , Leo-Pekka Lyytikäinen , Patrik K E Magnusson , Massimo Mangino , Evelin Mihailov , May E Montasser , Martina Müller-Nurasyid , Ilja M Nolte , Jeffrey R O'Connell , Cameron D Palmer , Markus Perola , Ann-Kristin Petersen , Serena Sanna , Richa Saxena , Susan K Service , Sonia Shah , Dmitry Shungin , Carlo Sidore , Ci Song , Rona J Strawbridge , Ida Surakka , Toshiko Tanaka , Tanya M Teslovich , Gudmar Thorleifsson , Evita G Van den Herik , Benjamin F Voight , Kelly A Volcik , Lindsay L Waite , Andrew Wong , Ying Wu , Weihua Zhang , Devin Absher , Gershim Asiki , Inês Barroso , Latonya F Been , Jennifer L Bolton , Lori L Bonnycastle , Paolo Brambilla , Mary S Burnett , Giancarlo Cesana , Maria Dimitriou , Alex S F Doney , Angela Döring , Paul Elliott , Stephen E Epstein , Gudmundur Ingi Eyjolfsson , Bruna Gigante , Mark O Goodarzi , Harald Grallert , Martha L Gravito , Christopher J Groves , Göran Hallmans , Anna-Liisa Hartikainen , Caroline Hayward , Dena Hernandez , Andrew A Hicks , Hilma Holm , Yi-Jen Hung , Thomas Illig , Michelle R Jones , Pontiano Kaleebu , John J P Kastelein , Kay-Tee Khaw , Eric Kim , Norman Klopp , Pirjo Komulainen , Meena Kumari , Claudia Langenberg , Terho Lehtimäki , Shih-Yi Lin , Jaana Lindström , Ruth J F Loos , François Mach , Wendy L McArdle , Christa Meisinger , Braxton D Mitchell , Gabrielle Müller , Ramaiah Nagaraja , Narisu Narisu , Tuomo V M Nieminen , Rebecca N Nsubuga , Isleifur Olafsson , Ken K Ong , Aarno Palotie , Theodore Papamarkou , Cristina Pomilla , Anneli Pouta , Daniel J Rader , Muredach P Reilly , Paul M Ridker , Fernando Rivadeneira , Igor Rudan , Aimo Ruokonen , Nilesh Samani , Hubert Scharnagl , Janet Seeley , Kaisa Silander , Alena StanÄáková , Kathleen Stirrups , Amy J Swift , Laurence Tiret , Andre G Uitterlinden , L Joost van Pelt , Sailaja Vedantam , Nicholas Wainwright , Cisca Wijmenga , Sarah H Wild , Gonneke Willemsen , Tom Wilsgaard , James F Wilson , Elizabeth H Young , Jing Hua Zhao , Linda S Adair , Dominique Arveiler , Themistocles L Assimes , Stefania Bandinelli , Franklyn Bennett , Murielle Bochud , Bernhard O Boehm , Dorret I Boomsma , Ingrid B Borecki , Stefan R Bornstein , Pascal Bovet , Michel Burnier , Harry Campbell , Aravinda Chakravarti , John C Chambers , Yii-Der Ida Chen , Francis S Collins , Richard S Cooper , John Danesh , George Dedoussis , Ulf de Faire , Alan B Feranil , Jean Ferrières , Luigi Ferrucci , Nelson B Freimer , Christian Gieger , Leif C Groop , Vilmundur Gudnason , Ulf Gyllensten , Anders Hamsten , Tamara B Harris , Aroon Hingorani , Joel N Hirschhorn , Albert Hofman , G Kees Hovingh , Chao Agnes Hsiung , Steve E Humphries , Steven C Hunt , Kristian Hveem , Carlos Iribarren , Marjo-Riitta Järvelin , Antti Jula , Mika Kähönen , Jaakko Kaprio , Antero Kesäniemi , Mika Kivimaki , Jaspal S Kooner , Peter J Koudstaal , Ronald M Krauss , Diana Kuh , Johanna Kuusisto , Kirsten O Kyvik , Markku Laakso , Timo A Lakka , Lars Lind , Cecilia M Lindgren , Nicholas G Martin , Winfried März , Mark I McCarthy , Colin A McKenzie , Pierre Meneton , Andres Metspalu , Leena Moilanen , Andrew D Morris , Patricia B Munroe , Inger Njølstad , Nancy L Pedersen , Chris Power , Peter P Pramstaller , Jackie F Price , Bruce M Psaty , Thomas Quertermous , Rainer Rauramaa , Danish Saleheen , Veikko Salomaa , Dharambir K Sanghera , Jouko Saramies , Peter E H Schwarz , Wayne H-H Sheu , Alan R Shuldiner , Agneta Siegbahn , Tim D Spector , Kari Stefansson , David P Strachan , Bamidele O Tayo , Elena Tremoli , Jaakko Tuomilehto , Matti Uusitupa , Cornelia M van Duijn , Peter Vollenweider , Lars Wallentin , Nicholas J Wareham , John B Whitfield , Bruce H R Wolffenbuttel , Jose M Ordovas , Eric Boerwinkle , Colin N A Palmer , Unnur Thorsteinsdottir , Daniel I Chasman , Jerome I Rotter , Paul W Franks , Samuli Ripatti , L Adrienne Cupples , Manjinder S Sandhu , Stephen S Rich , Michael Boehnke , Panos Deloukas , Sekar Kathiresan , Karen L Mohlke , Erik Ingelsson , Gonçalo R Abecasis , Global Lipids Genetics Consortium |
2013-11-01 | - |
| 23824909 |
Mol Cell Proteomics Ying Chen , Li-Na Yang , Li Cheng , Shun Tu , Shu-Juan Guo , Huang-Ying Le , Qian Xiong , Ran Mo , Chong-Yang Li , Jun-Seop Jeong , Lizhi Jiang , Seth Blackshaw , Li-Jun Bi , Heng Zhu , Sheng-Ce Tao , Feng Ge |
2013-10-01 | - |
| 23694781 |
J. Biochem. Tetsuya Hirata , Morihisa Fujita , Noriyuki Kanzawa , Yoshiko Murakami , Yusuke Maeda , Taroh Kinoshita |
2013-09-01 |
PIGV
|
| 22228761 |
J Biol Chem Yoshiko Murakami , Noriyuki Kanzawa , Kazunobu Saito , Peter M Krawitz , Stefan Mundlos , Peter N Robinson , Anastasios Karadimitris , Yusuke Maeda , Taroh Kinoshita |
2012-02-24 | - |
| 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 | - |
| 21739589 |
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. Am J Med Genet A Denise Horn , Peter Krawitz , Anca Mannhardt , Georg Christoph Korenke , Peter Meinecke |
2011-08-01 | - |
| 20802478 |
Nat. Genet. Peter M Krawitz , Michal R Schweiger , Christian Rödelsperger , Carlo Marcelis , Uwe Kölsch , Christian Meisel , Friederike Stephani , Taroh Kinoshita , Yoshiko Murakami , Sebastian Bauer , Melanie Isau , Axel Fischer , Andreas Dahl , Martin Kerick , Jochen Hecht , Sebastian Köhler , Marten Jäger , Johannes Grünhagen , Birgit Jonske de Condor , Sandra Doelken , Han G Brunner , Peter Meinecke , Eberhard Passarge , Miles D Thompson , David E Cole , Denise Horn , Tony Roscioli , Stefan Mundlos , Peter N Robinson |
2010-10-01 |
PIGV
|
| 16710414 |
The DNA sequence and biological annotation of human chromosome 1. Nature S G Gregory , K F Barlow , K E McLay , R Kaul , D Swarbreck , A Dunham , C E Scott , K L Howe , K Woodfine , C C A Spencer , M C Jones , C Gillson , S Searle , Y Zhou , F Kokocinski , L McDonald , R Evans , K Phillips , A Atkinson , R Cooper , C Jones , R E Hall , T D Andrews , C Lloyd , R Ainscough , J P Almeida , K D Ambrose , F Anderson , R W Andrew , R I S Ashwell , K Aubin , A K Babbage , C L Bagguley , J Bailey , H Beasley , G Bethel , C P Bird , S Bray-Allen , J Y Brown , A J Brown , D Buckley , J Burton , J Bye , C Carder , J C Chapman , S Y Clark , G Clarke , C Clee , V Cobley , R E Collier , N Corby , G J Coville , J Davies , R Deadman , M Dunn , M Earthrowl , A G Ellington , H Errington , A Frankish , J Frankland , L French , P Garner , J Garnett , L Gay , M R J Ghori , R Gibson , L M Gilby , W Gillett , R J Glithero , D V Grafham , C Griffiths , S Griffiths-Jones , R Grocock , S Hammond , E S I Harrison , E Hart , E Haugen , P D Heath , S Holmes , K Holt , P J Howden , A R Hunt , S E Hunt , G Hunter , J Isherwood , R James , C Johnson , D Johnson , A Joy , M Kay , J K Kershaw , M Kibukawa , A M Kimberley , A King , A J Knights , H Lad , G Laird , S Lawlor , D A Leongamornlert , D M Lloyd , J Loveland , J Lovell , M J Lush , R Lyne , S Martin , M Mashreghi-Mohammadi , L Matthews , N S W Matthews , S McLaren , S Milne , S Mistry , M J F Moore , T Nickerson , C N O'Dell , K Oliver , A Palmeiri , S A Palmer , A Parker , D Patel , A V Pearce , A I Peck , S Pelan , K Phelps , B J Phillimore , R Plumb , J Rajan , C Raymond , G Rouse , C Saenphimmachak , H K Sehra , E Sheridan , R Shownkeen , S Sims , C D Skuce , M Smith , C Steward , S Subramanian , N Sycamore , A Tracey , A Tromans , Z Van Helmond , M Wall , J M Wallis , S White , S L Whitehead , J E Wilkinson , D L Willey , H Williams , L Wilming , P W Wray , Z Wu , A Coulson , M Vaudin , J E Sulston , R Durbin , T Hubbard , R Wooster , I Dunham , N P Carter , G McVean , M T Ross , J Harrow , M V Olson , S Beck , J Rogers , D R Bentley , R Banerjee , S P Bryant , D C Burford , W D H Burrill , S M Clegg , P Dhami , O Dovey , L M Faulkner , S M Gribble , C F Langford , R D Pandian , K M Porter , E Prigmore |
2006-05-18 | - |
| 排名 | 科研单位 | 文献 |
|---|---|---|
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