Type | Description |
---|---|
Definition | ADAM metallopeptidase with thrombospondin type 1 motif 17 |
Date | Results | Publications |
---|---|---|
2021-02-13 13:25:00 | A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. | 32616716 |
2019-12-07 10:04:00 | A novel nonsense mutation c.1051 A > T in ADAMTS17 had been identified caused autosomal recessive WMS in the Chinese family. | 31019231 |
2018-11-10 11:15:00 | Secretion of ADAMTS17 requires O-fucosylation. ADAMTS17 binds fibrillin-2 but not fibrillin-1 and does not cleave either. ADAMTS17 regulates fibrillin isoform composition of microfibrils in the eye. | 28176809 |
2015-05-16 10:47:00 | higher Adamts17 expression is found in several human cancer cell subtypes, especially in breast ductal carcinoma and there is an inverse correlation between higher Adamts17 expression and patients' survival. | 24906090 |
2014-10-04 10:58:00 | The mutation in the Weill-Marchesani syndrome (WMS)- gene ADAMTS17 also causes WMS in an Indian family. | 24940034 |
Type | IDs |
---|---|
Synonymous | WMS4 |
Gene |
UniProtKB-ID:
ATS17_HUMAN
UniprotKB:
Q8TE56
UniParc:
UPI0000D613A8,
UPI00001AE929
EMBL:
AC113187,
AJ315735,
AC022710,
AC084855,
DQ217943,
AC015723,
AK131344
Ensembl:
ENSG00000140470
KO:
hsa:170691
|
Nucleutide sequences |
EMBL-CDS:
CAC86016.1,
ABB70740.1,
BAD18500.1
Ensembl_TRS:
ENST00000268070
|
Protein sequencees |
Ensembl_PRO:
ENSP00000268070
RefSeq:
XP_016877464.1,
XP_016877463.1,
XP_016877462.1,
XP_016877471.1,
XP_016877466.1,
XP_016877468.1,
XP_005254929.1,
XP_016877473.1,
XP_016877465.1,
NP_620688.2,
XP_016877469.1,
XP_016877467.1,
XP_011519614.1,
XP_016877470.1,
XP_016877472.1
|
Others |
UniRef100:
UniRef100_Q8TE56
UniRef90:
UniRef90_Q8TE56
UniRef50:
UniRef50_Q8TE56
UniGene:
Hs.513200
CCDS:
CCDS10383.1
|
{{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 |
---|---|---|---|
32616716 |
Sci Rep Daniel R Evans , Jane S Green , Somayyeh Fahiminiya , Jacek Majewski , Bridget A Fernandez , Matthew A Deardorff , Gordon J Johnson , James H Whelan , Dirk Hubmacher , Suneel S Apte , Care4Rare Canada Consortium , Michael O Woods |
2020-07-02 | - |
31019231 |
J Hum Genet Haoan Yi , Xu Zha , Yuechun Zhu , Jin Lv , Shouzhi Hu , Yanbo Kong , Guojiu Wu , Yuling Yang , Yongshu He |
2019-07-01 | - |
30021884 |
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck |
2018-10-01 | - |
28176809 |
Sci Rep Dirk Hubmacher , Michael Schneider , Steven J Berardinelli , Hideyuki Takeuchi , Belinda Willard , Dieter P Reinhardt , Robert S Haltiwanger , Suneel S Apte |
2017-02-08 | - |
25429064 |
Hum. Mol. Genet. Meian He , Min Xu , Ben Zhang , Jun Liang , Peng Chen , Jong-Young Lee , Todd A Johnson , Huaixing Li , Xiaobo Yang , Juncheng Dai , Liming Liang , Lixuan Gui , Qibin Qi , Jinyan Huang , Yanping Li , Linda S Adair , Tin Aung , Qiuyin Cai , Ching-Yu Cheng , Myeong-Chan Cho , Yoon Shin Cho , Minjie Chu , Bin Cui , Yu-Tang Gao , Min Jin Go , Dongfeng Gu , Weiqiong Gu , Huan Guo , Yongchen Hao , Jie Hong , Zhibin Hu , Yanling Hu , Jianfeng Huang , Joo-Yeon Hwang , Mohammad Kamran Ikram , Guangfu Jin , Dae-Hee Kang , Chiea Chuen Khor , Bong-Jo Kim , Hung Tae Kim , Michiaki Kubo , Jeannette Lee , Juyoung Lee , Nanette R Lee , Ruoying Li , Jun Li , JianJun Liu , Jirong Longe , Wei Lu , Xiangfeng Lu , Xiaoping Miao , Yukinori Okada , Rick Twee-Hee Ong , Gaokun Qiu , Mark Seielstad , Xueling Sim , Huaidong Song , Fumihiko Takeuchi , Toshihiro Tanaka , Phil R Taylor , Laiyuan Wang , Weiqing Wang , Yiqin Wang , Chen Wu , Ying Wu , Yong-Bing Xiang , Ken Yamamoto , Handong Yang , Ming Liao , Mitsuhiro Yokota , Terri Young , Xiaomin Zhang , Norihiro Kato , Qing K Wang , Wei Zheng , Frank B Hu , Dongxin Lin , Hongbing Shen , Yik Ying Teo , Zengnan Mo , Tien Yin Wong , Xu Lin , Karen L Mohlke , Guang Ning , Tatsuhiko Tsunoda , Bok-Ghee Han , Xiao-Ou Shu , E Shyong Tai , Tangchun Wu , Lu Qi |
2015-03-15 |
LOC101927898,
SLC17A2,
CNPY2,
ANAPC10,
FBLN5,
UBD,
FRS2,
ATF7,
NUDT3,
CEP250,
DIS3L2,
CSH1,
ILF3-AS1,
CTBP2,
SLC23A3,
RASGEF1B,
SLC38A9,
CEP120,
CYP19A1,
DDX6,
QSOX2,
PSORS1C1,
ADAMTS17,
ACAN,
DNM2,
DNMT3A,
SDR16C5,
SPAG17,
EXTL3,
DLEU7,
EFEMP1,
ZNF438,
TWISTNB,
GPC5,
KDM6B,
FBXW11,
ATP13A2,
RYBP,
ZBTB38,
LCORL,
DNM3,
GHR,
GHSR,
FAM184B,
ZNF638,
GLI2,
GNA12,
HCG22,
HIST1H2AD,
HMGA1,
C17orf67,
CATSPER3,
IGF1,
IGF1R,
ILF3,
KCNQ1,
LIN28B,
FADS1,
LTBP1,
LTBP2,
MC4R,
MEF2C,
MAP3K3,
MFAP2,
MYC,
NPPC,
SIX6,
PARN,
CRIM1,
DNAJC27,
ATP5G2,
PITX1,
PLAG1,
POLR2B,
ZRANB1,
TET2,
DYM,
DCAF16,
UQCC1,
GSDMC,
ZMIZ1,
ADAMTSL3,
ADGRG6,
PTCH1,
MKL2,
ZFAT,
PTPN9,
PTPN14,
RBBP8,
RBL1,
CCND1,
REST,
PAPPA2,
NCAPG,
HHIP,
NARFL,
HHIP-AS1,
SHOX2,
FNDC3B
|
24906090 |
Sp1 is necessary for gene activation of Adamts17 by estrogen. J. Cell. Biochem. Zanhui Jia , Shuping Gao , Nadira M'Rabet , Christian De Geyter , Hong Zhang |
2014-10-01 |
ADAMTS17,
SP1
|
24940034 |
Mol. Vis. Mohd Hussain Shah , Vishwanath Bhat , Jyoti S Shetty , Arun Kumar |
2014-01-01 |
ADAMTS17
|
23661674 |
Arterioscler. Thromb. Vasc. Biol. Yacine Boulaftali , Déborah François , Laurence Venisse , Martine Jandrot-Perrus , Véronique Arocas , Marie-Christine Bouton |
2013-07-01 |
Adam17,
Procr,
Serpine2,
PROCR,
ADAMTS17,
FURIN,
SERPINE2
|
23727862 |
Genome-wide association study identifies two susceptibility loci for osteosarcoma. Nat. Genet. Sharon A Savage , Lisa Mirabello , Zhaoming Wang , Julie M Gastier-Foster , Richard Gorlick , Chand Khanna , Adrienne M Flanagan , Roberto Tirabosco , Irene L Andrulis , Jay S Wunder , Nalan Gokgoz , Ana Patiño-Garcia , Luis Sierrasesúmaga , Fernando Lecanda , Nilgün Kurucu , Inci Ergurhan Ilhan , Neriman Sari , Massimo Serra , Claudia Hattinger , Piero Picci , Logan G Spector , Donald A Barkauskas , Neyssa Marina , Silvia Regina Caminada de Toledo , Antonio S Petrilli , Maria Fernanda Amary , Dina Halai , David M Thomas , Chester Douglass , Paul S Meltzer , Kevin Jacobs , Charles C Chung , Sonja I Berndt , Mark P Purdue , Neil E Caporaso , Margaret Tucker , Nathaniel Rothman , Maria Teresa Landi , Debra T Silverman , Peter Kraft , David J Hunter , Nuria Malats , Manolis Kogevinas , Sholom Wacholder , Rebecca Troisi , Lee Helman , Joseph F Fraumeni , Meredith Yeager , Robert N Hoover , Stephen J Chanock |
2013-07-01 | - |
23563607 |
Nat. Genet. Sonja I Berndt , Stefan Gustafsson , Reedik Mägi , Andrea Ganna , Eleanor Wheeler , Mary F Feitosa , Anne E Justice , Keri L Monda , Damien C Croteau-Chonka , Felix R Day , Tõnu Esko , Tove Fall , Teresa Ferreira , Davide Gentilini , Anne U Jackson , Jian'an Luan , Joshua C Randall , Sailaja Vedantam , Cristen J Willer , Thomas W Winkler , Andrew R Wood , Tsegaselassie Workalemahu , Yi-Juan Hu , Sang Hong Lee , Liming Liang , Dan-Yu Lin , Josine L Min , Benjamin M Neale , Gudmar Thorleifsson , Jian Yang , Eva Albrecht , Najaf Amin , Jennifer L Bragg-Gresham , Gemma Cadby , Martin den Heijer , Niina Eklund , Krista Fischer , Anuj Goel , Jouke-Jan Hottenga , Jennifer E Huffman , Ivonne Jarick , à sa Johansson , Toby Johnson , Stavroula Kanoni , Marcus E Kleber , Inke R König , Kati Kristiansson , Zoltán Kutalik , Claudia Lamina , Cecile Lecoeur , Guo Li , Massimo Mangino , Wendy L McArdle , Carolina Medina-Gomez , Martina Müller-Nurasyid , Julius S Ngwa , Ilja M Nolte , Lavinia Paternoster , Sonali Pechlivanis , Markus Perola , Marjolein J Peters , Michael Preuss , Lynda M Rose , Jianxin Shi , Dmitry Shungin , Albert Vernon Smith , Rona J Strawbridge , Ida Surakka , Alexander Teumer , Mieke D Trip , Jonathan Tyrer , Jana V Van Vliet-Ostaptchouk , Liesbeth Vandenput , Lindsay L Waite , Jing Hua Zhao , Devin Absher , Folkert W Asselbergs , Mustafa Atalay , Antony P Attwood , Anthony J Balmforth , Hanneke Basart , John Beilby , Lori L Bonnycastle , Paolo Brambilla , Marcel Bruinenberg , Harry Campbell , Daniel I Chasman , Peter S Chines , Francis S Collins , John M Connell , William O Cookson , Ulf de Faire , Femmie de Vegt , Mariano Dei , Maria Dimitriou , Sarah Edkins , Karol Estrada , David M Evans , Martin Farrall , Marco M Ferrario , Jean Ferrières , Lude Franke , Francesca Frau , Pablo V Gejman , Harald Grallert , Henrik Grönberg , Vilmundur Gudnason , Alistair S Hall , Per Hall , Anna-Liisa Hartikainen , Caroline Hayward , Nancy L Heard-Costa , Andrew C Heath , Johannes Hebebrand , Georg Homuth , Frank B Hu , Sarah E Hunt , Elina Hyppönen , Carlos Iribarren , Kevin B Jacobs , John-Olov Jansson , Antti Jula , Mika Kähönen , Sekar Kathiresan , Frank Kee , Kay-Tee Khaw , Mika Kivimäki , Wolfgang Koenig , Aldi T Kraja , Meena Kumari , Kari Kuulasmaa , Johanna Kuusisto , Jaana H Laitinen , Timo A Lakka , Claudia Langenberg , Lenore J Launer , Lars Lind , Jaana Lindström , Jianjun Liu , Antonio Liuzzi , Marja-Liisa Lokki , Mattias Lorentzon , Pamela A Madden , Patrik K Magnusson , Paolo Manunta , Diana Marek , Winfried März , Irene Mateo Leach , Barbara McKnight , Sarah E Medland , Evelin Mihailov , Lili Milani , Grant W Montgomery , Vincent Mooser , Thomas W Mühleisen , Patricia B Munroe , Arthur W Musk , Narisu Narisu , Gerjan Navis , George Nicholson , Ellen A Nohr , Ken K Ong , Ben A Oostra , Colin N A Palmer , Aarno Palotie , John F Peden , Nancy Pedersen , Annette Peters , Ozren Polasek , Anneli Pouta , Peter P Pramstaller , Inga Prokopenko , Carolin Pütter , Aparna Radhakrishnan , Olli Raitakari , Augusto Rendon , Fernando Rivadeneira , Igor Rudan , Timo E Saaristo , Jennifer G Sambrook , Alan R Sanders , Serena Sanna , Jouko Saramies , Sabine Schipf , Stefan Schreiber , Heribert Schunkert , So-Youn Shin , Stefano Signorini , Juha Sinisalo , Boris Skrobek , Nicole Soranzo , Alena StanÄáková , Klaus Stark , Jonathan C Stephens , Kathleen Stirrups , Ronald P Stolk , Michael Stumvoll , Amy J Swift , Eirini V Theodoraki , Barbara Thorand , David-Alexandre Tregouet , Elena Tremoli , Melanie M Van der Klauw , Joyce B J van Meurs , Sita H Vermeulen , Jorma Viikari , Jarmo Virtamo , Veronique Vitart , Gérard Waeber , Zhaoming Wang , Elisabeth Widén , Sarah H Wild , Gonneke Willemsen , Bernhard R Winkelmann , Jacqueline C M Witteman , Bruce H R Wolffenbuttel , Andrew Wong , Alan F Wright , M Carola Zillikens , Philippe Amouyel , Bernhard O Boehm , Eric Boerwinkle , Dorret I Boomsma , Mark J Caulfield , Stephen J Chanock , L Adrienne Cupples , Daniele Cusi , George V Dedoussis , Jeanette Erdmann , Johan G Eriksson , Paul W Franks , Philippe Froguel , Christian Gieger , Ulf Gyllensten , Anders Hamsten , Tamara B Harris , Christian Hengstenberg , Andrew A Hicks , Aroon Hingorani , Anke Hinney , Albert Hofman , Kees G Hovingh , Kristian Hveem , Thomas Illig , Marjo-Riitta Jarvelin , Karl-Heinz Jöckel , Sirkka M Keinanen-Kiukaanniemi , Lambertus A Kiemeney , Diana Kuh , Markku Laakso , Terho Lehtimäki , Douglas F Levinson , Nicholas G Martin , Andres Metspalu , Andrew D Morris , Markku S Nieminen , Inger Njølstad , Claes Ohlsson , Albertine J Oldehinkel , Willem H Ouwehand , Lyle J Palmer , Brenda Penninx , Chris Power , Michael A Province , Bruce M Psaty , Lu Qi , Rainer Rauramaa , Paul M Ridker , Samuli Ripatti , Veikko Salomaa , Nilesh J Samani , Harold Snieder , Thorkild I A Sørensen , Timothy D Spector , Kari Stefansson , Anke Tönjes , Jaakko Tuomilehto , André G Uitterlinden , Matti Uusitupa , Pim van der Harst , Peter Vollenweider , Henri Wallaschofski , Nicholas J Wareham , Hugh Watkins , H-Erich Wichmann , James F Wilson , Goncalo R Abecasis , Themistocles L Assimes , Inês Barroso , Michael Boehnke , Ingrid B Borecki , Panos Deloukas , Caroline S Fox , Timothy Frayling , Leif C Groop , Talin Haritunian , Iris M Heid , David Hunter , Robert C Kaplan , Fredrik Karpe , Miriam F Moffatt , Karen L Mohlke , Jeffrey R O'Connell , Yudi Pawitan , Eric E Schadt , David Schlessinger , Valgerdur Steinthorsdottir , David P Strachan , Unnur Thorsteinsdottir , Cornelia M van Duijn , Peter M Visscher , Anna Maria Di Blasio , Joel N Hirschhorn , Cecilia M Lindgren , Andrew P Morris , David Meyre , André Scherag , Mark I McCarthy , Elizabeth K Speliotes , Kari E North , Ruth J F Loos , Erik Ingelsson |
2013-05-01 | - |
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