| Type | Description |
|---|---|
| Definition | HYLS1 centriolar and ciliogenesis associated |
| Date | Results | Publications |
|---|---|---|
| 2017-05-06 11:03:00 | The homozygous mutation of the hydrolethalus syndrome 1 gene (HYLS1) was identified in a consanguinity family in a 17 year old male and his 11 year old younger brother. | 26830932 |
| 2010-06-30 22:05:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| 2010-01-21 00:00:00 | Despite variation in the clinicopathologic phenotype, all cases in the series carried the same homozygous missense mutation in HYLS1 | 18648327 |
| Type | IDs |
|---|---|
| Synonymous | HLS |
| Gene |
UniProtKB-ID:
HYLS1_HUMAN,
A0A024R3K0_HUMAN
UniprotKB:
Q96M11,
A0A024R3K0
UniParc:
UPI000006DF2D
EMBL:
AK057477,
BC015047,
CH471065,
AK127394,
AP000842
Ensembl:
ENSG00000198331
KO:
hsa:219844
|
| Nucleutide sequences |
EMBL-CDS:
BAB71503.1,
BAG54500.1,
AAH15047.1,
EAW67665.1,
EAW67666.1
Gene_ORFName:
hCG_1644899
Ensembl_TRS:
ENST00000356438,
ENST00000526028,
ENST00000425380
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000348815,
ENSP00000414884,
ENSP00000436833
RefSeq:
NP_001364198.1,
XP_016872810.1,
NP_001128265.1,
NP_659451.1,
NP_001364199.1,
XP_016872809.1,
XP_011540961.1
|
| Others |
UniRef100:
UniRef100_Q96M11
UniRef90:
UniRef90_Q96M11
UniRef50:
UniRef50_Q96M11
UniGene:
Hs.98133
CCDS:
CCDS8467.1
|
| {{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 |
|---|---|---|---|
| 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 | - |
| 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 | - |
| 26830932 |
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. Clin. Genet. M Oka , K Shimojima , T Yamamoto , Y Hanaoka , S Sato , T Yasuhara , H Yoshinaga , K Kobayashi |
2016-06-01 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 21399614 |
EMBO J. Lis Jakobsen , Katja Vanselow , Marie Skogs , Yusuke Toyoda , Emma Lundberg , Ina Poser , Lasse G Falkenby , Martin Bennetzen , Jens Westendorf , Erich A Nigg , Mathias Uhlen , Anthony A Hyman , Jens S Andersen |
2011-04-20 |
ACTR1B,
ACTR1A,
AKAP9,
TUBGCP3,
PIBF1,
DCTN2,
DCTN6,
CETN2,
CETN3,
PLK4,
SDCCAG8,
TUBGCP2,
CNTRL,
FGFR1OP,
CEP250,
DCTN3,
TUBGCP5,
HAUS1,
CNTROB,
NEDD1,
FOPNL,
CCSAP,
SCLT1,
POC5,
DYNLL2,
CSNK1A1,
CSNK1D,
CEP128,
CKAP2L,
SPICE1,
CEP120,
SASS6,
DCTN1,
DYNC1H1,
DYNC1I2,
DYNC1LI2,
CEP112,
LRRC45,
HYLS1,
CEP162,
ANKRD26,
CEP164,
MAPRE1,
CEP131,
CEP152,
TTLL5,
RAP1GAP2,
CEP68,
FBXW11,
RPGRIP1L,
CLASP1,
HAUS5,
POC1A,
C2CD3,
NPHP4,
CKAP2,
TUBGCP4,
POC1B,
GSK3B,
NME7,
KIF2A,
CEP85L,
NEK1,
NEK2,
ODF2,
WRAP73,
PAFAH1B1,
PCM1,
DYNC1LI1,
PCNT,
DCTN4,
NIN,
PLK1,
HAUS6,
NDE1,
HAUS4,
PPP2R3C,
CEP192,
HAUS2,
CEP55,
BBS7,
HAUS7,
PRKACA,
PRKACB,
CEP72,
CDK5RAP2,
PRKAR2A,
PRKAR2B,
CENPJ,
ODF2L,
MIB1,
SLAIN2,
CLIP1,
CCDC14,
CEP85,
STIL,
MZT2A,
AURKA,
TRAF5
|
| 20379614 |
Mol. Med. Jed E Rose , Frédérique M Behm , Tomas Drgon , Catherine Johnson , George R Uhl |
2010-03-17 | - |
| 19656802 |
The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation. Genes Dev Alexander Dammermann , Hayley Pemble , Brian J Mitchell , Ian McLeod , John R Yates , Chris Kintner , Arshad B Desai , Karen Oegema |
2009-09-01 | - |
| 18648327 |
Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis. J. Neuropathol. Exp. Neurol. Anders Paetau , Heli Honkala , Riitta Salonen , Jaakko Ignatius , Marjo Kestilä , Riitta Herva |
2008-08-01 |
HYLS1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
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| 排名 | 研究人员 | 文献 |
|---|---|---|
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