| Type | Description |
|---|---|
| Definition | myotilin |
| Date | Results | Publications |
|---|---|---|
| 2018-12-29 11:57:00 | sequence conservation analysis of myotilin shed light on the molecular basis of myotilinopathies and revealed several motifs in Ig domains found also in I-band proteins. | 28638118 |
| 2018-03-17 11:15:00 | A French family affected with a late onset proximal and distal muscle weakness and myofibrillar myopathy on muscle pathology, in which the siblings known to be clinically affected were homozygous for the c.179C>T (p.Ser60Phe) myotilin gene mutation is reported. | 27854214 |
| 2015-02-28 11:33:00 | Describe the first homozygous mutation in the myotilin gene leading to a novel, autosomal recessive subtype of myofibrillar myopathy (MFM). | 24928145 |
| 2011-11-26 10:37:00 | Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations | 21361873 |
| 2010-09-15 22:05:00 | Observational study of gene-disease association. (HuGE Navigator) | 19913121 |
| Type | IDs |
|---|---|
| Synonymous | LGMD1, LGMD1A, MFM3, TTID, TTOD |
| Gene |
UniProtKB-ID:
MYOTI_HUMAN,
A0A0C4DFM5_HUMAN,
B4DT68_HUMAN
UniprotKB:
Q9UBF9,
A0A0C4DFM5,
B4DT68
UniParc:
UPI00017A7B91,
UPI000013CA96,
UPI0000073E86,
UPI00017A7B9B
EMBL:
AF133820,
AF144477,
BC005376,
AK300088,
KF459595,
AK300076,
AC106791,
CH471062
Ensembl:
ENSG00000120729
KO:
hsa:9499
|
| Nucleutide sequences |
EMBL-CDS:
BAG61891.1,
AAH05376.1,
AAD44754.1,
AAD29051.2,
EAW62178.1,
BAG61880.1
Gene_ORFName:
hCG_39937
Ensembl_TRS:
ENST00000421631,
ENST00000239926,
ENST00000515645
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000391185,
ENSP00000239926,
ENSP00000426281
RefSeq:
NP_001129412.1,
XP_016865550.1,
NP_001287840.1,
NP_006781.1,
XP_016865549.1,
XP_016865551.1
|
| Others |
UniRef100:
UniRef100_Q9UBF9,
UniRef100_A0A0C4DFM5
UniRef90:
UniRef90_Q9UBF9
UniRef50:
UniRef50_Q9UBF9
UniGene:
Hs.84665
CCDS:
CCDS47268.1,
CCDS4194.1
|
| {{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 |
|---|---|---|---|
| 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 | - |
| 29872149 |
Agrin has a pathological role in the progression of oral cancer. Br. J. Cancer César Rivera , Flávia Silva Zandonadi , Celeste Sánchez-Romero , Ciro Dantas Soares , Daniela Campos Granato , Wilfredo Alejandro González-Arriagada , Adriana Franco Paes Leme |
2018-06-01 | - |
| 28638118 |
Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains. Sci Rep Vid Puž , Miha PavÅ¡iÄ , Brigita LenarÄiÄ , Kristina DjinoviÄ-Carugo |
2017-06-21 | - |
| 27854214 |
J Neuromuscul Dis Gabrielle Rudolf , Tiina Suominen , Sini Penttilä , Peter Hackman , Anni Evilä , Béatrice Lannes , Andoni Echaniz-Laguna , Guillaume Bierry , Christine Tranchant , Bjarne Udd |
2016-05-27 | - |
| 27107014 |
An inter-species protein-protein interaction network across vast evolutionary distance. Mol Syst Biol Quan Zhong , Samuel J Pevzner , Tong Hao , Yang Wang , Roberto Mosca , Jörg Menche , Mikko Taipale , Murat TaÅan , Changyu Fan , Xinping Yang , Patrick Haley , Ryan R Murray , Flora Mer , Fana Gebreab , Stanley Tam , Andrew MacWilliams , Amélie Dricot , Patrick Reichert , Balaji Santhanam , Lila Ghamsari , Michael A Calderwood , Thomas Rolland , Benoit Charloteaux , Susan Lindquist , Albert-László Barabási , David E Hill , Patrick Aloy , Michael E Cusick , Yu Xia , Frederick P Roth , Marc Vidal |
2016-04-22 | - |
| 26871637 |
Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Cell Xinping Yang , Jasmin Coulombe-Huntington , Shuli Kang , Gloria M Sheynkman , Tong Hao , Aaron Richardson , Song Sun , Fan Yang , Yun A Shen , Ryan R Murray , Kerstin Spirohn , Bridget E Begg , Miquel Duran-Frigola , Andrew MacWilliams , Samuel J Pevzner , Quan Zhong , Shelly A Trigg , Stanley Tam , Lila Ghamsari , Nidhi Sahni , Song Yi , Maria D Rodriguez , Dawit Balcha , Guihong Tan , Michael Costanzo , Brenda Andrews , Charles Boone , Xianghong J Zhou , Kourosh Salehi-Ashtiani , Benoit Charloteaux , Alyce A Chen , Michael A Calderwood , Patrick Aloy , Frederick P Roth , David E Hill , Lilia M Iakoucheva , Yu Xia , Marc Vidal |
2016-02-11 |
USH1C,
PQBP1,
OPTN,
RBM5,
CDK5,
CDK7,
RABEPK,
SRRM1,
NOD1,
CD2BP2,
RBM14,
HAX1,
SLC30A9,
STK25,
SEMA4F,
SLC19A2,
CETP,
SRSF10,
SEPT9,
ALDH1L1,
RCC1,
LDB3,
AKAP10,
SEC63,
PHF21B,
HELQ,
CKB,
ERCC8,
CLCN2,
ZFYVE27,
CLPTM1,
TTC8,
C15orf40,
COL1A2,
BBS5,
ACMSD,
DNAJC19,
CPA2,
C7orf34,
CRH,
CRK,
RDH12,
MIPOL1,
ZNF688,
SLC25A10,
NKX2-5,
CTNS,
CTSD,
UPP2,
CYBB,
CYP11A1,
TSTD2,
DAO,
REM2,
DYX1C1,
DCN,
DDC,
GLIS3,
DGUOK,
DHCR7,
DMD,
E2F6,
TYMP,
EGR2,
FLCN,
EPHX1,
EYA4,
ETFA,
ETV6,
FANCC,
FANCG,
EFEMP1,
MICU2,
ZUFSP,
FCGR3A,
ABCB7,
FGA,
FGFR1,
FH,
DOLK,
KIAA0907,
ARHGEF15,
SETX,
ARHGAP26,
SPG20,
FMO3,
ETHE1,
SLC39A14,
CDK20,
SMUG1,
FXN,
FTSJ1,
MCM9,
GABRA2,
GAD1,
SUMF2,
GALT,
UNC50,
FBXO8
|
| 25416956 |
A proteome-scale map of the human interactome network. Cell Thomas Rolland , Murat TaÅan , Benoit Charloteaux , Samuel J Pevzner , Quan Zhong , Nidhi Sahni , Song Yi , Irma Lemmens , Celia Fontanillo , Roberto Mosca , Atanas Kamburov , Susan D Ghiassian , Xinping Yang , Lila Ghamsari , Dawit Balcha , Bridget E Begg , Pascal Braun , Marc Brehme , Martin P Broly , Anne-Ruxandra Carvunis , Dan Convery-Zupan , Roser Corominas , Jasmin Coulombe-Huntington , Elizabeth Dann , Matija Dreze , Amélie Dricot , Changyu Fan , Eric Franzosa , Fana Gebreab , Bryan J Gutierrez , Madeleine F Hardy , Mike Jin , Shuli Kang , Ruth Kiros , Guan Ning Lin , Katja Luck , Andrew MacWilliams , Jörg Menche , Ryan R Murray , Alexandre Palagi , Matthew M Poulin , Xavier Rambout , John Rasla , Patrick Reichert , Viviana Romero , Elien Ruyssinck , Julie M Sahalie , Annemarie Scholz , Akash A Shah , Amitabh Sharma , Yun Shen , Kerstin Spirohn , Stanley Tam , Alexander O Tejeda , Shelly A Trigg , Jean-Claude Twizere , Kerwin Vega , Jennifer Walsh , Michael E Cusick , Yu Xia , Albert-László Barabási , Lilia M Iakoucheva , Patrick Aloy , Javier De Las Rivas , Jan Tavernier , Michael A Calderwood , David E Hill , Tong Hao , Frederick P Roth , Marc Vidal |
2014-11-20 | - |
| 24928145 |
Novel recessive myotilin mutation causes severe myofibrillar myopathy. Neurogenetics Joachim Schessl , Elisa Bach , Simone Rost , Sarah Feldkirchner , Christiana Kubny , Stefan Müller , Franz-Georg Hanisch , Wolfram Kress , Benedikt Schoser |
2014-08-01 |
MYOT
|
| 23583979 |
Nat. Genet. Marcel den Hoed , Mark Eijgelsheim , Tõnu Esko , Bianca J J M Brundel , David S Peal , David M Evans , Ilja M Nolte , Ayellet V Segrè , Hilma Holm , Robert E Handsaker , Harm-Jan Westra , Toby Johnson , Aaron Isaacs , Jian Yang , Alicia Lundby , Jing Hua Zhao , Young Jin Kim , Min Jin Go , Peter Almgren , Murielle Bochud , Gabrielle Boucher , Marilyn C Cornelis , Daniel Gudbjartsson , David Hadley , Pim van der Harst , Caroline Hayward , Martin den Heijer , Wilmar Igl , Anne U Jackson , Zoltán Kutalik , Jian'an Luan , John P Kemp , Kati Kristiansson , Claes Ladenvall , Mattias Lorentzon , May E Montasser , Omer T Njajou , Paul F O'Reilly , Sandosh Padmanabhan , Beate St Pourcain , Tuomo Rankinen , Perttu Salo , Toshiko Tanaka , Nicholas J Timpson , Veronique Vitart , Lindsay Waite , William Wheeler , Weihua Zhang , Harmen H M Draisma , Mary F Feitosa , Kathleen F Kerr , Penelope A Lind , Evelin Mihailov , N Charlotte Onland-Moret , Ci Song , Michael N Weedon , Weijia Xie , Loic Yengo , Devin Absher , Christine M Albert , Alvaro Alonso , Dan E Arking , Paul I W de Bakker , Beverley Balkau , Cristina Barlassina , Paola Benaglio , Joshua C Bis , Nabila Bouatia-Naji , Søren Brage , Stephen J Chanock , Peter S Chines , Mina Chung , Dawood Darbar , Christian Dina , Marcus Dörr , Paul Elliott , Stephan B Felix , Krista Fischer , Christian Fuchsberger , Eco J C de Geus , Philippe Goyette , Vilmundur Gudnason , Tamara B Harris , Anna-Liisa Hartikainen , Aki S Havulinna , Susan R Heckbert , Andrew A Hicks , Albert Hofman , Suzanne Holewijn , Femke Hoogstra-Berends , Jouke-Jan Hottenga , Majken K Jensen , Asa Johansson , Juhani Junttila , Stefan Kääb , Bart Kanon , Shamika Ketkar , Kay-Tee Khaw , Joshua W Knowles , Angrad S Kooner , Jan A Kors , Meena Kumari , Lili Milani , Päivi Laiho , Edward G Lakatta , Claudia Langenberg , Maarten Leusink , Yongmei Liu , Robert N Luben , Kathryn L Lunetta , Stacey N Lynch , Marcello R P Markus , Pedro Marques-Vidal , Irene Mateo Leach , Wendy L McArdle , Steven A McCarroll , Sarah E Medland , Kathryn A Miller , Grant W Montgomery , Alanna C Morrison , Martina Müller-Nurasyid , Pau Navarro , Mari Nelis , Jeffrey R O'Connell , Christopher J O'Donnell , Ken K Ong , Anne B Newman , Annette Peters , Ozren Polasek , Anneli Pouta , Peter P Pramstaller , Bruce M Psaty , Dabeeru C Rao , Susan M Ring , Elizabeth J Rossin , Diana Rudan , Serena Sanna , Robert A Scott , Jaban S Sehmi , Stephen Sharp , Jordan T Shin , Andrew B Singleton , Albert V Smith , Nicole Soranzo , Tim D Spector , Chip Stewart , Heather M Stringham , Kirill V Tarasov , André G Uitterlinden , Liesbeth Vandenput , Shih-Jen Hwang , John B Whitfield , Cisca Wijmenga , Sarah H Wild , Gonneke Willemsen , James F Wilson , Jacqueline C M Witteman , Andrew Wong , Quenna Wong , Yalda Jamshidi , Paavo Zitting , Jolanda M A Boer , Dorret I Boomsma , Ingrid B Borecki , Cornelia M van Duijn , Ulf Ekelund , Nita G Forouhi , Philippe Froguel , Aroon Hingorani , Erik Ingelsson , Mika Kivimaki , Richard A Kronmal , Diana Kuh , Lars Lind , Nicholas G Martin , Ben A Oostra , Nancy L Pedersen , Thomas Quertermous , Jerome I Rotter , Yvonne T van der Schouw , W M Monique Verschuren , Mark Walker , Demetrius Albanes , David O Arnar , Themistocles L Assimes , Stefania Bandinelli , Michael Boehnke , Rudolf A de Boer , Claude Bouchard , W L Mark Caulfield , John C Chambers , Gary Curhan , Daniele Cusi , Johan Eriksson , Luigi Ferrucci , Wiek H van Gilst , Nicola Glorioso , Jacqueline de Graaf , Leif Groop , Ulf Gyllensten , Wen-Chi Hsueh , Frank B Hu , Heikki V Huikuri , David J Hunter , Carlos Iribarren , Bo Isomaa , Marjo-Riitta Jarvelin , Antti Jula , Mika Kähönen , Lambertus A Kiemeney , Melanie M van der Klauw , Jaspal S Kooner , Peter Kraft , Licia Iacoviello , Terho Lehtimäki , Marja-Liisa L Lokki , Braxton D Mitchell , Gerjan Navis , Markku S Nieminen , Claes Ohlsson , Neil R Poulter , Lu Qi , Olli T Raitakari , Eric B Rimm , John D Rioux , Federica Rizzi , Igor Rudan , Veikko Salomaa , Peter S Sever , Denis C Shields , Alan R Shuldiner , Juha Sinisalo , Alice V Stanton , Ronald P Stolk , David P Strachan , Jean-Claude Tardif , Unnur Thorsteinsdottir , Jaako Tuomilehto , Dirk J van Veldhuisen , Jarmo Virtamo , Jorma Viikari , Peter Vollenweider , Gérard Waeber , Elisabeth Widen , Yoon Shin Cho , Jesper V Olsen , Peter M Visscher , Cristen Willer , Lude Franke , Global BPgen Consortium , CARDIoGRAM Consortium , Jeanette Erdmann , John R Thompson , PR GWAS Consortium , Arne Pfeufer , QRS GWAS Consortium , Nona Sotoodehnia , QT-IGC Consortium , Christopher Newton-Cheh , CHARGE-AF Consortium , Patrick T Ellinor , Bruno H Ch Stricker , Andres Metspalu , Markus Perola , Jacques S Beckmann , George Davey Smith , Kari Stefansson , Nicholas J Wareham , Patricia B Munroe , Ody C M Sibon , David J Milan , Harold Snieder , Nilesh J Samani , Ruth J F Loos |
2013-06-01 | - |
| 23414517 |
Skelet Muscle Gaëlle Blandin , Sylvie Marchand , Karine Charton , Nathalie Danièle , Evelyne Gicquel , Jean-Baptiste Boucheteil , Azéddine Bentaib , Laetitia Barrault , Daniel Stockholm , Marc Bartoli , Isabelle Richard |
2013-01-01 |
DNAJB6,
OPTN,
TNIP1,
KLHL41,
LAMTOR5,
TP53RK,
AMOT,
DES,
ENO1,
CMYA5,
FLNC,
SYNE2,
ANKRD28,
DOCK9,
SNAPIN,
DNAJB5,
SAMHD1,
APPL1,
CHORDC1,
PDLIM3,
BLOC1S2,
TBK1,
HIVEP1,
HSP90AA1,
HSP90AB1,
ILK,
LAMTOR4,
LIMS1,
MLF1,
MYBPC1,
MYBPC2,
MYBPH,
NEB,
NF2,
ACO1,
TPRKB,
SH3GLB1,
CAB39,
PPP1CB,
PPP1R7,
APPL2,
STRADB,
SH3GLB2,
SNX6,
RANBP2,
RBBP5,
RSU1,
RYR1,
ATXN1,
SGCG,
DST,
SPTB,
TTN,
EZR,
VWF,
WIPF1,
YWHAZ,
ALMS1,
SLMAP,
TNKS2,
MLF2,
CAPN3,
DYSF,
OBSCN,
DTNBP1,
DPY30,
TRIM63,
CDC42BPA,
DGKD,
TCAP,
MYOM1,
ACTN2,
WASL,
ASH2L,
MYOM2,
SLC9A3R1,
AKAP6
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员