Type | Description |
---|---|
Definition | tRNA splicing endonuclease subunit 54 |
Date | Results | Publications |
---|---|---|
2016-09-03 12:05:00 | TSEN54 gene-related pontocerebellar hypoplasia type 2 presented with exaggerated startle response in cousins. | 26701950 |
2015-05-16 12:04:00 | A novel heterozygous mutation was found in the TSEN54 gene by c.254A > T(+) (p.E85V), which may be a new subtype of hereditary ataxia | 24938831 |
2012-03-31 11:16:00 | TSEN54 mutation causes a severe form of pontocerebellar hypoplasia type 1 in a family. | 21468723 |
2011-07-02 10:43:00 | The results demonistrated that not all cases of clinically defined pontocerebellar hypoplasia-4 result from mutations in TSEN54. | 21383226 |
2010-11-13 10:20:00 | We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype. | 20956791 |
Type | IDs |
---|---|
Synonymous | PCH2A, PCH4, PCH5, SEN54L, sen54 |
Gene |
UniProtKB-ID:
SEN54_HUMAN
UniprotKB:
Q7Z6J9
UniParc:
UPI00001C1FD2,
UPI0001D14783
EMBL:
AK094466,
BC047793,
BC053643,
AC100787
Ensembl:
ENSG00000182173
KO:
hsa:283989
|
Nucleutide sequences |
EMBL-CDS:
AAH53643.1,
BAC04362.1,
AAH47793.1
Ensembl_TRS:
ENST00000333213
|
Protein sequencees |
Ensembl_PRO:
ENSP00000327487
RefSeq:
NP_997229.2
|
Others |
UniRef100:
UniRef100_Q7Z6J9
UniRef90:
UniRef90_Q7Z6J9
UniRef50:
UniRef50_Q7Z6J9
UniGene:
Hs.378501
CCDS:
CCDS11724.1
|
{{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 | - |
29150431 |
EMBO J Xiaoqian Liu , Wen Zong , Tangliang Li , Yujun Wang , Xingzhi Xu , Zhong-Wei Zhou , Zhao-Qi Wang |
2017-12-15 | - |
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 | - |
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 | - |
24938831 |
Mol Med Rep Yi Qian , Haiyong Wang , Tao Jin , Yiqing Wang , Lizheng Fang , Yuhao Chen , Liying Chen |
2014-09-01 |
TSEN54
|
22658674 |
Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. Cell Alfredo Castello , Bernd Fischer , Katrin Eichelbaum , Rastislav Horos , Benedikt M Beckmann , Claudia Strein , Norman E Davey , David T Humphreys , Thomas Preiss , Lars M Steinmetz , Jeroen Krijgsveld , Matthias W Hentze |
2012-06-08 |
GNPDA1,
SCARNA27,
GABPB1-AS1,
NFYC-AS1,
FKSG29,
PHKA2-AS1,
HDAC6,
PDCD6,
C17orf96,
LOC100287042,
MIR3652,
ARPC4-TTLL3,
ATP5J2-PTCD1,
TGIF2-C20orf24,
FARSB,
ABCC5,
ABCF2,
HUWE1,
ARPC4,
ARPC1B,
ACTR3,
ACTR1A,
LRPPRC,
TRAP1,
BCAP31,
NAMPT,
RBM12,
TOB1,
G3BP1,
SUGP2,
MBNL2,
ABI2,
CEBPZ,
ATP6AP2,
SLC25A15,
RCL1,
RBM7,
RBM6,
RBM5,
ALYREF,
PSME3,
MPHOSPH10,
NUTF2,
USPL1,
DDX39A,
STX6,
HNRNPR,
MRPS31,
RIDA,
SF3B4,
AKAP8,
STUB1,
SIGMAR1,
SMNDC1,
BCAS2,
SF3A1,
CDKN2A,
APBB3,
SMYD5,
ADAR,
EMC8,
NPM3,
HMG20A,
NOD1,
RACK1,
NDC80,
NSA2,
YAP1,
CD2BP2,
TUBGCP3,
RBM14,
EMG1,
ACAA2,
PPIE,
TAB1,
MAD2L2,
PIBF1,
SLC25A17,
NXF1,
CREB3,
LRRC41,
SYNCRIP,
ENOX2,
MYBBP1A,
DDX17,
ADARB2,
CHERP,
HYOU1,
IPO8,
NOP56,
RNASEH2A,
GLRX3,
DCTN2,
LAMTOR5,
PRDX4,
AGPAT1,
RPP30,
SLU7,
MRPL28
|
22990118 |
Charting the landscape of tandem BRCT domain-mediated protein interactions. Sci Signal Nicholas T Woods , Rafael D Mesquita , Michael Sweet , Marcelo A Carvalho , Xueli Li , Yun Liu , Huey Nguyen , C Eric Thomas , Edwin S Iversen , Sylvia Marsillac , Rachel Karchin , John Koomen , Alvaro N A Monteiro |
2012-01-01 |
RANBP9,
DPP3,
G3BP1,
RBM5,
ALYREF,
CDK5,
DCAF7,
SRRM1,
CDK9,
AKAP8,
SF3A1,
NPM3,
ANAPC10,
RACK1,
CD2BP2,
MCRS1,
PPIH,
CAP1,
LRRC41,
UNC13B,
FBLN5,
RPP30,
NPC2,
SMC2,
PAICS,
MYL12A,
CCT6B,
CFL1,
MGEA5,
NUDC,
AHCYL1,
SRSF10,
VAMP5,
RUVBL2,
CPSF4,
SUGT1,
DBF4,
KDELR1,
EBNA1BP2,
CKAP4,
MAPRE2,
COPS5,
IMMT,
ILVBL,
KIF2C,
CPSF6,
DDX52,
SOX30,
WDR5,
HNRNPUL1,
KRR1,
HIBADH,
FGFR1OP,
KIF3A,
CLASRP,
ZWINT,
WDHD1,
STRAP,
WDR6,
DDX20,
XPOT,
COPE,
GPN1,
PHB2,
CBX3,
U2AF2,
EXOSC8,
DTX2,
LACTB,
OSBPL8,
CIRBP,
DIS3L,
AP3S1,
BTBD16,
COMTD1,
PDZD8,
AGAP4,
CLU,
ANAPC16,
CLTC,
LSM12,
ZNF428,
COL1A1,
COL1A2,
SPATA18,
SPATA4,
CREBBP,
ZNF280B,
AAMP,
DNHD1,
CSNK2A1,
CSNK2B,
CARMIL2,
CSRP2,
SLC25A10,
CSTB,
CTBP1,
CTBP2,
COMMD1
|
21900206 |
A directed protein interaction network for investigating intracellular signal transduction. Sci Signal Arunachalam Vinayagam , Ulrich Stelzl , Raphaele Foulle , Stephanie Plassmann , Martina Zenkner , Jan Timm , Heike E Assmus , Miguel A Andrade-Navarro , Erich E Wanker |
2011-09-06 |
KCNE3,
HDAC6,
PDCD6IP,
ZNF605,
TOM1L1,
HMGXB4,
RANBP9,
RWDD2B,
SNUPN,
TSSC4,
ARPC3,
ACTR1B,
CDH13,
CEBPZ,
RBM5,
CDK4,
CDK5,
TRIM13,
EIF1,
DDX39A,
HNRNPR,
RABEPK,
SPRY2,
CDKN1A,
CDK2AP2,
LOC400927-CSNK1E,
RGS19,
CDKN2B,
DSCR3,
IKZF1,
NPM3,
TUBA1B,
TUBB3,
RACK1,
PIAS3,
NDC80,
YAP1,
CDIPT,
TUBGCP3,
TIMM17A,
TAB1,
FST,
STK25,
DEAF1,
KAT5,
GLRX3,
DCTN2,
PRDX4,
RABAC1,
DPYSL4,
CCT7,
CCT4,
DRAP1,
CENPB,
TXNIP,
NPRL2,
GNB5,
CERS1,
CFL1,
MGEA5,
PLK4,
RAI1,
GIPC1,
ZNF266,
UTP14A,
PGRMC1,
RAB10,
YIF1A,
JTB,
GADD45G,
AFG3L2,
C11orf58,
HNRNPA0,
PNRC1,
ADIRF,
COPS6,
IMMT,
SF3B2,
KIF2C,
RAB31,
ADAP1,
PIM2,
RCC1,
NUDT21,
SNRNP35,
CHD3,
STMN2,
HSF2BP,
SPACA9,
RPP14,
FGFR1OP,
FAF1,
ZWINT,
CHGA,
CDC37,
CHGB,
KAT7,
C14orf1,
NUDT5
|
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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