| Type | Description |
|---|---|
| Definition | lebercilin LCA5 |
| Date | Results | Publications |
|---|---|---|
| 2017-03-04 10:23:00 | The authors report novel biallelic LCA5 mutations, Ala212Pro and Tyr441Cys, as causing cone dystrophy. | 27067258 |
| 2014-07-05 13:16:00 | Identification of novel LCA5 mutations in patients with Leber congenital amaurosis and retinitis pigmentosa. | 23946133 |
| 2014-03-15 12:42:00 | This work reveals a higher frequency of LCA5 mutations in a Spanish Leber congenital amaurosis cohort than in other populations. | 24144451 |
| 2011-12-10 10:51:00 | A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts. | 21850168 |
| 2010-01-21 00:00:00 | Leber congenital amaurosis 2 patients with LCA5 mutation had evidence of retained photoreceptors mainly in the central retina; retinal remodeling was present in pericentral regions | 19503738 |
| Type | IDs |
|---|---|
| Synonymous | C6orf152 |
| Gene |
UniProtKB-ID:
LCA5_HUMAN,
A0A384MDJ7_HUMAN
UniprotKB:
Q86VQ0,
A0A384MDJ7
UniParc:
UPI000007144D
EMBL:
AL391840,
CH471051,
BC050327,
GQ891300
Ensembl:
ENSG00000135338
KO:
hsa:167691
|
| Nucleutide sequences |
EMBL-CDS:
AAH50327.1,
EAW48705.1,
EAW48706.1,
ADO22162.1
Ensembl_TRS:
ENST00000369846,
ENST00000392959
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000358861,
ENSP00000376686
RefSeq:
XP_011533806.1,
NP_859065.2,
XP_005248722.1,
NP_001116241.1
|
| Others |
UniRef100:
UniRef100_Q86VQ0
UniRef90:
UniRef90_Q86VQ0
UniRef50:
UniRef50_Q86VQ0
UniGene:
Hs.21945
CCDS:
CCDS4990.1
|
| {{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 | - |
| 28718761 |
The human cytoplasmic dynein interactome reveals novel activators of motility. Elife William B Redwine , Morgan E DeSantis , Ian Hollyer , Zaw Min Htet , Phuoc Tien Tran , Selene K Swanson , Laurence Florens , Michael P Washburn , Samara L Reck-Peterson |
2017-07-18 | - |
| 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 | - |
| 27025967 |
J Mol Cell Biol Yingjie Xu , Wen Yang , Jinjun Shi , Bruce R Zetter |
2016-06-01 | - |
| 27173435 |
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun Karsten Boldt , Jeroen van Reeuwijk , Qianhao Lu , Konstantinos Koutroumpas , Thanh-Minh T Nguyen , Yves Texier , Sylvia E C van Beersum , Nicola Horn , Jason R Willer , Dorus A Mans , Gerard Dougherty , Ideke J C Lamers , Karlien L M Coene , Heleen H Arts , Matthew J Betts , Tina Beyer , Emine Bolat , Christian Johannes Gloeckner , Khatera Haidari , Lisette Hetterschijt , Daniela Iaconis , Dagan Jenkins , Franziska Klose , Barbara Knapp , Brooke Latour , Stef J F Letteboer , Carlo L Marcelis , Dragana Mitic , Manuela Morleo , Machteld M Oud , Moniek Riemersma , Susan Rix , Paulien A Terhal , Grischa Toedt , Teunis J P van Dam , Erik de Vrieze , Yasmin Wissinger , Ka Man Wu , Gordana Apic , Philip L Beales , Oliver E Blacque , Toby J Gibson , Martijn A Huynen , Nicholas Katsanis , Hannie Kremer , Heymut Omran , Erwin van Wijk , Uwe Wolfrum , François Kepes , Erica E Davis , Brunella Franco , Rachel H Giles , Marius Ueffing , Robert B Russell , Ronald Roepman , UK10K Rare Diseases Group |
2016-05-13 | - |
| 27067258 |
Sci Rep Xue Chen , Xunlun Sheng , Xiantao Sun , Yuxin Zhang , Chao Jiang , Huiping Li , Sijia Ding , Yani Liu , Wenzhou Liu , Zili Li , Chen Zhao |
2016-04-12 | - |
| 26638075 |
A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Cell Gagan D Gupta , Ãtienne Coyaud , João Gonçalves , Bahareh A Mojarad , Yi Liu , Qianzhu Wu , Ladan Gheiratmand , David Comartin , Johnny M Tkach , Sally W T Cheung , Mikhail Bashkurov , Monica Hasegan , James D Knight , Zhen-Yuan Lin , Markus Schueler , Friedhelm Hildebrandt , Jason Moffat , Anne-Claude Gingras , Brian Raught , Laurence Pelletier |
2015-12-03 |
TANK,
SRA1,
LOC100129118,
TROAP,
PIGK,
WASH1,
DNAJB6,
LOC100506055,
TMEM35B,
OCLN,
LOC100507703,
ERVK3-1,
RBM14-RBM4,
COMMD3-BMI1,
UBA2,
SAE1,
ABCC5,
TIMM23B,
SCAMP2,
SCAMP3,
ARPC3,
ACTR3,
ACTR2,
NUBP2,
TSFM,
RAD50,
KIF20A,
PREB,
ACTR1B,
ACTR1A,
PDIA6,
BCAP31,
SUGP2,
CEBPZ,
ATP6AP2,
LPCAT3,
WASF2,
CDK2,
TENM1,
TXNDC9,
CDK4,
ALG3,
PRMT3,
PSME3,
MPHOSPH9,
CDK5,
TRIM13,
FLOT1,
PSMD14,
MFSD10,
STX6,
DCAF7,
STAM2,
ZMPSTE24,
STUB1,
SIGMAR1,
BET1,
DNAJA2,
PAK4,
KATNB1,
RTN3,
TNIP1,
EMC8,
CNPY2,
TFG,
TUBA1B,
TUBB4A,
TUBB4B,
NDRG1,
NDC80,
NSA2,
PGRMC2,
TUBGCP3,
SEC24B,
EMG1,
MCRS1,
TAB1,
BAIAP2,
PIBF1,
PPIH,
ZNHIT1,
PFDN6,
CLGN,
SLC25A17,
NXF1,
SEC23B,
SEC23A,
VAT1,
NCOA2,
HYOU1,
IPO8,
IPO7,
NEBL,
DCTN2,
PRDX4,
ARL6IP5,
AGPAT1,
RPP38,
CCT7
|
| 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 | - |
| 25018096 |
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. Am J Hum Genet Susanne Roosing , Ideke J C Lamers , Erik de Vrieze , L Ingeborgh van den Born , Stanley Lambertus , Heleen H Arts , POC1B Study Group , Theo A Peters , Carel B Hoyng , Hannie Kremer , Lisette Hetterschijt , Stef J F Letteboer , Erwin van Wijk , Ronald Roepman , Anneke I den Hollander , Frans P M Cremers |
2014-08-07 | - |
| 24144451 |
Ophthalmology Marta Corton , Almudena Avila-Fernandez , Elena VallespÃn , MarÃa Isabel López-Molina , Berta Almoguera , Esther MartÃn-Garrido , Sorina D Tatu , M Imran Khan , Fiona Blanco-Kelly , Rosa Riveiro-Alvarez , MarÃa Brión , Blanca GarcÃa-Sandoval , Frans P M Cremers , Angel Carracedo , Carmen Ayuso |
2014-01-01 | - |
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
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目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
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目前还没有研究热点人员