Type | Description |
---|---|
Definition | GON7 subunit of KEOPS complex |
Date | Results | Publications |
---|---|---|
2020-01-11 10:50:00 | Mutations in GON7, encoding the fifth KEOPS subunit, lead to a milder form of Galloway-Mowat syndrome (GAMOS), an autosomal recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. The structure and cellular characterization of GON7 suggest its involvement in the cellular stability and quaternary arrangement of the KEOPS complex. | 31481669 |
Type | IDs |
---|---|
Synonymous | C14orf142, PNAS-127 |
Gene |
UniProtKB-ID:
GON7_HUMAN
UniprotKB:
Q9BXV9
UniParc:
UPI00001FDA7D
EMBL:
AF277185,
CR613456,
BC109390,
BC065216,
BC107429,
CR590920,
BC021733
Ensembl:
ENSG00000275619,
ENSG00000170270
KO:
hsa:84520
|
Nucleutide sequences |
EMBL-CDS:
AAK07544.1,
AAI09391.2,
AAH21733.2,
AAH65216.1,
AAI07430.2
Gene_ORFName:
C14orf142
Ensembl_TRS:
ENST00000306954,
ENST00000621279
|
Protein sequencees |
Ensembl_PRO:
ENSP00000478863,
ENSP00000306320
RefSeq:
NP_115879.2
|
Others |
UniRef100:
UniRef100_Q9BXV9
UniRef90:
UniRef90_Q9BXV9
UniRef50:
UniRef50_Q9BXV9
UniGene:
Hs.20142
CCDS:
CCDS41981.1
|
{{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 | - |
31481669 |
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. Nat Commun Christelle Arrondel , Sophia Missoury , Rozemarijn Snoek , Julie Patat , Giulia Menara , Bruno Collinet , Dominique Liger , Dominique Durand , Olivier Gribouval , Olivia Boyer , Laurine Buscara , Gaëlle Martin , Eduardo Machuca , Fabien Nevo , Ewen Lescop , Daniela A Braun , Anne-Claire Boschat , Sylvia Sanquer , Ida Chiara Guerrera , Patrick Revy , Mélanie Parisot , Cécile Masson , Nathalie Boddaert , Marina Charbit , Stéphane Decramer , Robert Novo , Marie-Alice Macher , Bruno Ranchin , Justine Bacchetta , Audrey Laurent , Sophie Collardeau-Frachon , Albertien M van Eerde , Friedhelm Hildebrandt , Daniella Magen , Corinne Antignac , Herman van Tilbeurgh , Géraldine Mollet |
2019-09-03 | - |
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 | - |
27903914 |
Nucleic Acids Res. Leo C K Wan , Pierre Maisonneuve , Rachel K Szilard , Jean-Philippe Lambert , Timothy F Ng , Noah Manczyk , Hao Huang , Rob Laister , Amy A Caudy , Anne-Claude Gingras , Daniel Durocher , Frank Sicheri |
2017-01-25 | - |
26496610 |
A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell Marco Y Hein , Nina C Hubner , Ina Poser , Jürgen Cox , Nagarjuna Nagaraj , Yusuke Toyoda , Igor A Gak , Ina Weisswange , Jörg Mansfeld , Frank Buchholz , Anthony A Hyman , Matthias Mann |
2015-10-22 |
Cep85l,
Rcc1,
Zbtb48,
Bsdc1,
Kifc1,
Ccp110,
Ints4,
Slc6a8,
Cenpi,
Nup107,
Xpo1,
Fbxw11,
Tubg1,
Csnk1d,
Bap1,
Ptpn23,
Tecpr2,
Slain1,
Ankrd28,
Prkaa1,
Espl1,
Gbf1,
Cdc20,
Cenpf,
Trip11,
Mbd5,
Kif22,
Dut,
Srsf1,
Actb,
Spred2,
Akt2,
Mta1,
Tgs1,
Pip4k2c,
Ankfy1,
Apc,
Ar,
Rhoa,
Atp2a2,
Atp5a1,
Atp7a,
Cep131,
Bach1,
Bcl7c,
Bmpr1a,
Brca1,
Bub1,
Bub1b,
C1qbp,
Anxa2,
Calu,
Cbx1,
Cbx4,
Cct2,
Cct3,
Cct4,
Cct7,
Cct8,
Cd2ap,
Cdk1,
Cdc37,
Cdh1,
Chek1,
Cit,
Copa,
Crebbp,
Cry1,
Csk,
Smc3,
Dctn1,
Ddb1,
Cdk2ap1,
Mapre1,
Ect2,
Eef1a1,
Eif3a,
Mark2,
Evpl,
Ewsr1,
Wdr5,
Dclre1b,
Fbl,
Fgfr1,
Flot1,
Flot2,
B4galt1,
Gnb1,
Gspt1,
Hdac6,
Herc2,
Hsf1,
Hsph1,
Elavl1,
Id2,
Cyr61,
Cep250,
Insr,
Eif3e
|
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 | - |
23455922 |
Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. Nat. Methods Markku Varjosalo , Roberto Sacco , Alexey Stukalov , Audrey van Drogen , Melanie Planyavsky , Simon Hauri , Ruedi Aebersold , Keiryn L Bennett , Jacques Colinge , Matthias Gstaiger , Giulio Superti-Furga |
2013-04-01 |
FRAT1,
TRAP1,
YAF2,
AKAP9,
G3BP1,
TRIM28,
CDK2,
CDK3,
CDK4,
CDK5,
PATJ,
CDK6,
CDK7,
DCAF7,
SRRM1,
CDK9,
CDKN1A,
CDKN1B,
STUB1,
LOC400927-CSNK1E,
CDKN1C,
SAP18,
BCAS2,
CDKN2A,
CDKN2B,
CDKN2C,
PCGF3,
TUBB4B,
PRMT5,
CDIPT,
SEC23B,
STK25,
PRDX4,
CCT7,
CCT4,
CCT2,
HEXIM1,
IGF2BP3,
IGF2BP2,
CCT8,
YME1L1,
AHCYL1,
SDCCAG3,
TRAFD1,
RNPS1,
PRDX3,
EBNA1BP2,
GCN1,
ILVBL,
TLK2,
WDR5,
CDC37,
WDR6,
RASSF1,
AKAP11,
RPL35,
PDCD10,
TP53RK,
ZNF618,
KLHDC3,
CKS1B,
CKS2,
DCD,
ZC3H18,
HEXIM2,
CREBBP,
FAM199X,
CRY1,
DYNLL2,
PARP1,
MAPK14,
CSK,
CSNK1A1,
CSNK1D,
CSNK1E,
CSNK2A1,
CSNK2A2,
CSNK2B,
C18orf25,
GRK2,
GRK3,
VPS13B,
DVL2,
DYRK1A,
EEF2,
ELAVL1,
EP300,
EWSR1,
ATAD3C,
FASN,
FAM83B,
GPC4,
MAPK15,
FGFR4,
FKBP5,
DHX30,
MAPRE1,
CCT5,
WDFY3
|
22863883 |
A high-throughput approach for measuring temporal changes in the interactome. Nat. Methods Anders R Kristensen , Joerg Gsponer , Leonard J Foster |
2012-09-01 |
GNPDA1,
LOC100128588,
PDCD6IP,
PDCD6,
GNE,
TOM1L1,
TOM1,
RANBP9,
SMC4,
UBA2,
SAE1,
FARSB,
DNM1L,
ABCF2,
DPP3,
HUWE1,
COL4A3BP,
ARPC5,
ARPC4,
ARPC3,
ARPC1B,
ACTR3,
ACTR2,
NUBP2,
ARPC2,
ACTR1B,
ACTR1A,
PDIA6,
TRAP1,
OPTN,
NAMPT,
RBM12,
G3BP1,
ABI2,
TRIM28,
WASF2,
TXNDC9,
PRMT3,
PSME3,
DDX39A,
PSMD14,
PLIN3,
HNRNPR,
GPHN,
POP7,
CDK9,
STAM2,
STUB1,
UBE4B,
SF3A1,
CDKN2A,
MAEA,
RRAGB,
TFG,
NPM3,
TUBB3,
TUBB4A,
TUBB4B,
NDRG1,
MYL9,
RACK1,
BASP1,
YAP1,
PRMT5,
ARIH2,
ACAA2,
COG5,
PFDN6,
EIF3M,
SEC23B,
SEC23A,
CAP2,
CAP1,
CRTAP,
SYNCRIP,
VAT1,
CARM1,
DDX17,
HYOU1,
IPO7,
ATG7,
SSSCA1,
RNASEH2A,
GLRX3,
DCTN2,
ANP32B,
PRDX4,
ARPC1A,
RPP30,
RPP38,
ARFGEF2,
CCT7,
CCT4,
CCT2,
DRAP1,
SMC2,
AHSA1,
PAIP1,
PAICS
|
22912744 |
PLoS One Adalberto Costessi , Nawel Mahrour , Vikram Sharma , Rieka Stunnenberg , Marieke A Stoel , Esther Tijchon , Joan W Conaway , Ronald C Conaway , Hendrik G Stunnenberg |
2012-01-01 | - |
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 | - |
排名 | 科研单位 | 文献 |
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排名 | 研究人员 | 文献 |
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