| Type | Description |
|---|---|
| Definition | phosphodiesterase 6H |
| Date | Results | Publications |
|---|---|---|
| 2012-12-22 11:15:00 | These findings add PDE6H to the set of genes involved in autosomal-recessive cone disorders and demonstrate the importance of the inhibitory gamma subunit in cone phototransduction | 22901948 |
| 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 | Our results indicate that mutations in the PDE6H gene are not common, because only 1 of 240 patients with cone dystrophy showed a single nucleotide substitution in the of PDE6H mRNA | 15629837 |
| Type | IDs |
|---|---|
| Synonymous | ACHM6, RCD3 |
| Gene |
UniProtKB-ID:
CNCG_HUMAN
UniprotKB:
Q13956
UniParc:
UPI0000127C0C
EMBL:
BC093740,
BC069800,
BC069774,
BC093738,
D45399
Ensembl:
ENSG00000139053
KO:
hsa:5149
|
| Nucleutide sequences |
EMBL-CDS:
AAH69774.1,
BAA08241.1,
AAH93740.1,
AAH93738.1,
AAH69800.1
Ensembl_TRS:
ENST00000266395
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000266395
RefSeq:
XP_016874920.1,
NP_006196.1
|
| Others |
UniRef100:
UniRef100_Q13956
UniRef90:
UniRef90_Q13956
UniRef50:
UniRef50_Q13956
UniGene:
Hs.54471
CCDS:
CCDS8672.1
|
| {{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 |
|---|---|---|---|
| 32814053 |
Cell Rep Christian Haenig , Nir Atias , Alexander K Taylor , Arnon Mazza , Martin H Schaefer , Jenny Russ , Sean-Patrick Riechers , Shushant Jain , Maura Coughlin , Jean-Fred Fontaine , Brian D Freibaum , Lydia Brusendorf , Martina Zenkner , Pablo Porras , Martin Stroedicke , Sigrid Schnoegl , Kristin Arnsburg , Annett Boeddrich , Lucia Pigazzini , Peter Heutink , J Paul Taylor , Janine Kirstein , Miguel A Andrade-Navarro , Roded Sharan , Erich E Wanker |
2020-08-18 | - |
| 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 | - |
| 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 | - |
| 27591049 |
SPATA2 Links CYLD to LUBAC, Activates CYLD, and Controls LUBAC Signaling. Mol Cell Paul R Elliott , Derek Leske , Matous Hrdinka , Katrin Bagola , Berthe K Fiil , Stephen H McLaughlin , Jane Wagstaff , Norbert Volkmar , John C Christianson , Benedikt M Kessler , Stefan M V Freund , David Komander , Mads Gyrd-Hansen |
2016-09-15 | - |
| 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 | - |
| 22901948 |
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am. J. Hum. Genet. Susanne Kohl , Frauke Coppieters , Françoise Meire , Simone Schaich , Susanne Roosing , Christina Brennenstuhl , Sylvia Bolz , Maria M van Genderen , Frans C C Riemslag , European Retinal Disease Consortium , Robert Lukowski , Anneke I den Hollander , Frans P M Cremers , Elfride De Baere , Carel B Hoyng , Bernd Wissinger |
2012-09-07 | - |
| 21832049 |
J Biol Chem Judit Oláh , Orsolya Vincze , Dezsõ Virók , Dóra Simon , Zsolt Bozsó , Natália Tõkési , István Horváth , Emma Hlavanda , János Kovács , Anna Magyar , Mária Szũcs , Ferenc Orosz , Botond Penke , Judit Ovádi |
2011-09-30 | - |
| 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 | - |
| 20379614 |
Mol. Med. Jed E Rose , Frédérique M Behm , Tomas Drgon , Catherine Johnson , George R Uhl |
2010-03-17 | - |
| 17207965 |
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Genomics Philippe Lamesch , Ning Li , Stuart Milstein , Changyu Fan , Tong Hao , Gabor Szabo , Zhenjun Hu , Kavitha Venkatesan , Graeme Bethel , Paul Martin , Jane Rogers , Stephanie Lawlor , Stuart McLaren , Amélie Dricot , Heather Borick , Michael E Cusick , Jean Vandenhaute , Ian Dunham , David E Hill , Marc Vidal |
2007-03-01 |
GNPDA1,
CTAGE4,
BCL2L11,
PIGK,
TIMM23,
NPIPA5,
CST8,
AP1M2,
COX17,
TIMM23B,
SNX29P1,
IL18BP,
RWDD2B,
TSSC4,
UPK1A-AS1,
ARPC5,
ARPC3,
TSPAN5,
TSPAN3,
TSPAN1,
PPIF,
CTDSP2,
NAMPT,
PDZK1IP1,
DHRS9,
RBM7,
MPHOSPH6,
DHRS2,
MPZL2,
GPA33,
CALCOCO2,
SPRY3,
SPRY1,
RAMP3,
TRAIP,
DNAJA2,
IKZF1,
CRISP3,
SIRPB1,
CNPY2,
B3GNT3,
WARS2,
NPM3,
CDO1,
CACNG3,
TUBB4B,
CEPT1,
PEMT,
WFDC2,
NSA2,
EMG1,
TIMM17A,
PPIE,
HAX1,
CIB2,
DCTN2,
RPP38,
SLC35A1,
IFI44,
CXCL13,
SIVA1,
MRPL28,
CENPA,
MAB21L2,
RAD51AP1,
MTX2,
CGRRF1,
DCTN6,
B3GNT2,
CLDN16,
PNMA2,
KLRA1P,
SRSF10,
ARPP21,
STARD10,
CGA,
EDDM3A,
CFHR3,
GPR83,
RAB10,
CPSF4,
RUNDC3A,
COPS8,
C11orf58,
CCDC85B,
GLIPR1,
KLK11,
SNRNP27,
LIAS,
LILRA2,
SNRNP35,
CYB561D2,
ESM1,
WDR5,
BTN2A1,
HHLA3,
BVES,
KLK8,
MRPL3
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
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| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
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