Type | Description |
---|---|
Definition | PIH1 domain containing 3 |
Date | Results | Publications |
---|---|---|
2021-01-16 15:58:00 | Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia. | 32170493 |
2020-11-21 13:35:00 | [Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia]. | 32820521 |
2018-11-17 10:12:00 | Study propose that PIH1D3 is part of a complementary conserved R2TP-like HSP90 co-chaperone complex, the loss of which affects assembly of a subset of inner arm dyneins. | 28176794 |
2017-05-27 11:27:00 | Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects | 28041644 |
Type | IDs |
---|---|
Synonymous | CILD36, CXorf41, DNAAF6, NYSAR97, TWISTER |
Gene |
UniProtKB-ID:
DAAF6_HUMAN
UniprotKB:
Q9NQM4
UniParc:
UPI0000073CF5
EMBL:
CH471120,
AY211928,
BC033510,
AL136112
Ensembl:
ENSG00000080572
KO:
hsa:139212
|
Nucleutide sequences |
EMBL-CDS:
EAX02717.1,
AAH33510.1,
EAX02716.1,
AAO65181.1
Ensembl_TRS:
ENST00000372453,
ENST00000336387,
ENST00000535523
|
Protein sequencees |
Ensembl_PRO:
ENSP00000337757,
ENSP00000441930,
ENSP00000361531
RefSeq:
XP_011529157.1,
NP_001162625.1,
NP_775765.1
|
Others |
UniRef100:
UniRef100_Q9NQM4
UniRef90:
UniRef90_Q9NQM4
UniRef50:
UniRef50_Q9NQM4
UniGene:
Hs.128836
CCDS:
CCDS14528.1
|
{{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 |
---|---|---|---|
32820521 |
[Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi Shan Wang , Bing Li , Yafei Chen , Zheng Zhou , Ruiling Bao |
2020-09-10 | - |
32170493 |
J Assist Reprod Genet Ying Wang , Chaofeng Tu , Hongchuan Nie , Lanlan Meng , Dongyan Li , Weili Wang , Huan Zhang , Guangxiu Lu , Ge Lin , Yue-Qiu Tan , Juan Du |
2020-04-01 | - |
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 | - |
29741156 |
Elife Hiroshi Yamaguchi , Toshiyuki Oda , Masahide Kikkawa , Hiroyuki Takeda |
2018-05-09 | - |
28176794 |
Nat Commun Chiara Olcese , Mitali P Patel , Amelia Shoemark , Santeri Kiviluoto , Marie Legendre , Hywel J Williams , Cara K Vaughan , Jane Hayward , Alice Goldenberg , Richard D Emes , Mustafa M Munye , Laura Dyer , Thomas Cahill , Jeremy Bevillard , Corinne Gehrig , Michel Guipponi , Sandra Chantot , Philippe Duquesnoy , Lucie Thomas , Ludovic Jeanson , Bruno Copin , Aline Tamalet , Christel Thauvin-Robinet , Jean-François Papon , Antoine Garin , Isabelle Pin , Gabriella Vera , Paul Aurora , Mahmoud R Fassad , Lucy Jenkins , Christopher Boustred , Thomas Cullup , Mellisa Dixon , Alexandros Onoufriadis , Andrew Bush , Eddie M K Chung , Stylianos E Antonarakis , Michael R Loebinger , Robert Wilson , Miguel Armengot , Estelle Escudier , Claire Hogg , UK10K Rare Group , Serge Amselem , Zhaoxia Sun , Lucia Bartoloni , Jean-Louis Blouin , Hannah M Mitchison |
2017-02-08 | - |
28041644 |
Am. J. Hum. Genet. Tamara Paff , Niki T Loges , Isabella Aprea , Kaman Wu , Zeineb Bakey , Eric G Haarman , Johannes M A Daniels , Erik A Sistermans , Natalija Bogunovic , Gerard W Dougherty , Inga M Höben , Jörg GroÃe-Onnebrink , Anja Matter , Heike Olbrich , Claudius Werner , Gerard Pals , Miriam Schmidts , Heymut Omran , Dimitra Micha |
2017-01-05 | - |
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 | - |
24421334 |
Pih1d3 is required for cytoplasmic preassembly of axonemal dynein in mouse sperm. J. Cell Biol. Fenglan Dong , Kyosuke Shinohara , Yanick Botilde , Ryo Nabeshima , Yasuko Asai , Akemi Fukumoto , Toshiaki Hasegawa , Moe Matsuo , Hiroyuki Takeda , Hidetaka Shiratori , Tetsuya Nakamura , Hiroshi Hamada |
2014-01-20 |
Dnaaf2,
Casp3,
Hspa1b,
Dnah7b,
Dnah9,
Pih1h3b,
Dnaic2,
Dnaaf3,
Dnaaf1,
Dnaic1,
Pih1d3,
Dnali1,
PIH1D3
|
15772651 |
The DNA sequence of the human X chromosome. Nature Mark T Ross , Darren V Grafham , Alison J Coffey , Steven Scherer , Kirsten McLay , Donna Muzny , Matthias Platzer , Gareth R Howell , Christine Burrows , Christine P Bird , Adam Frankish , Frances L Lovell , Kevin L Howe , Jennifer L Ashurst , Robert S Fulton , Ralf Sudbrak , Gaiping Wen , Matthew C Jones , Matthew E Hurles , T Daniel Andrews , Carol E Scott , Stephen Searle , Juliane Ramser , Adam Whittaker , Rebecca Deadman , Nigel P Carter , Sarah E Hunt , Rui Chen , Andrew Cree , Preethi Gunaratne , Paul Havlak , Anne Hodgson , Michael L Metzker , Stephen Richards , Graham Scott , David Steffen , Erica Sodergren , David A Wheeler , Kim C Worley , Rachael Ainscough , Kerrie D Ambrose , M Ali Ansari-Lari , Swaroop Aradhya , Robert I S Ashwell , Anne K Babbage , Claire L Bagguley , Andrea Ballabio , Ruby Banerjee , Gary E Barker , Karen F Barlow , Ian P Barrett , Karen N Bates , David M Beare , Helen Beasley , Oliver Beasley , Alfred Beck , Graeme Bethel , Karin Blechschmidt , Nicola Brady , Sarah Bray-Allen , Anne M Bridgeman , Andrew J Brown , Mary J Brown , David Bonnin , Elspeth A Bruford , Christian Buhay , Paula Burch , Deborah Burford , Joanne Burgess , Wayne Burrill , John Burton , Jackie M Bye , Carol Carder , Laura Carrel , Joseph Chako , Joanne C Chapman , Dean Chavez , Ellson Chen , Guan Chen , Yuan Chen , Zhijian Chen , Craig Chinault , Alfredo Ciccodicola , Sue Y Clark , Graham Clarke , Chris M Clee , Sheila Clegg , Kerstin Clerc-Blankenburg , Karen Clifford , Vicky Cobley , Charlotte G Cole , Jen S Conquer , Nicole Corby , Richard E Connor , Robert David , Joy Davies , Clay Davis , John Davis , Oliver Delgado , Denise Deshazo , Pawandeep Dhami , Yan Ding , Huyen Dinh , Steve Dodsworth , Heather Draper , Shannon Dugan-Rocha , Andrew Dunham , Matthew Dunn , K James Durbin , Ireena Dutta , Tamsin Eades , Matthew Ellwood , Alexandra Emery-Cohen , Helen Errington , Kathryn L Evans , Louisa Faulkner , Fiona Francis , John Frankland , Audrey E Fraser , Petra Galgoczy , James Gilbert , Rachel Gill , Gernot Glöckner , Simon G Gregory , Susan Gribble , Coline Griffiths , Russell Grocock , Yanghong Gu , Rhian Gwilliam , Cerissa Hamilton , Elizabeth A Hart , Alicia Hawes , Paul D Heath , Katja Heitmann , Steffen Hennig , Judith Hernandez , Bernd Hinzmann , Sarah Ho , Michael Hoffs , Phillip J Howden , Elizabeth J Huckle , Jennifer Hume , Paul J Hunt , Adrienne R Hunt , Judith Isherwood , Leni Jacob , David Johnson , Sally Jones , Pieter J de Jong , Shirin S Joseph , Stephen Keenan , Susan Kelly , Joanne K Kershaw , Ziad Khan , Petra Kioschis , Sven Klages , Andrew J Knights , Anna Kosiura , Christie Kovar-Smith , Gavin K Laird , Cordelia Langford , Stephanie Lawlor , Margaret Leversha , Lora Lewis , Wen Liu , Christine Lloyd , David M Lloyd , Hermela Loulseged , Jane E Loveland , Jamieson D Lovell , Ryan Lozado , Jing Lu , Rachael Lyne , Jie Ma , Manjula Maheshwari , Lucy H Matthews , Jennifer McDowall , Stuart McLaren , Amanda McMurray , Patrick Meidl , Thomas Meitinger , Sarah Milne , George Miner , Shailesh L Mistry , Margaret Morgan , Sidney Morris , Ines Müller , James C Mullikin , Ngoc Nguyen , Gabriele Nordsiek , Gerald Nyakatura , Christopher N O'Dell , Geoffery Okwuonu , Sophie Palmer , Richard Pandian , David Parker , Julia Parrish , Shiran Pasternak , Dina Patel , Alex V Pearce , Danita M Pearson , Sarah E Pelan , Lesette Perez , Keith M Porter , Yvonne Ramsey , Kathrin Reichwald , Susan Rhodes , Kerry A Ridler , David Schlessinger , Mary G Schueler , Harminder K Sehra , Charles Shaw-Smith , Hua Shen , Elizabeth M Sheridan , Ratna Shownkeen , Carl D Skuce , Michelle L Smith , Elizabeth C Sotheran , Helen E Steingruber , Charles A Steward , Roy Storey , R Mark Swann , David Swarbreck , Paul E Tabor , Stefan Taudien , Tineace Taylor , Brian Teague , Karen Thomas , Andrea Thorpe , Kirsten Timms , Alan Tracey , Steve Trevanion , Anthony C Tromans , Michele d'Urso , Daniel Verduzco , Donna Villasana , Lenee Waldron , Melanie Wall , Qiaoyan Wang , James Warren , Georgina L Warry , Xuehong Wei , Anthony West , Siobhan L Whitehead , Mathew N Whiteley , Jane E Wilkinson , David L Willey , Gabrielle Williams , Leanne Williams , Angela Williamson , Helen Williamson , Laurens Wilming , Rebecca L Woodmansey , Paul W Wray , Jennifer Yen , Jingkun Zhang , Jianling Zhou , Huda Zoghbi , Sara Zorilla , David Buck , Richard Reinhardt , Annemarie Poustka , André Rosenthal , Hans Lehrach , Alfons Meindl , Patrick J Minx , Ladeana W Hillier , Huntington F Willard , Richard K Wilson , Robert H Waterston , Catherine M Rice , Mark Vaudin , Alan Coulson , David L Nelson , George Weinstock , John E Sulston , Richard Durbin , Tim Hubbard , Richard A Gibbs , Stephan Beck , Jane Rogers , David R Bentley |
2005-03-17 | - |
排名 | 科研单位 | 文献 |
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