Type | Description |
---|---|
Definition | lipoyl(octanoyl) transferase 2 |
Date | Results | Publications |
---|---|---|
2017-09-09 12:46:00 | The authors report on the identification of biallelic LIPT2 mutations in three affected individuals from two families with severe neonatal encephalopathy where a normalization of lipoylation was observed after expression of wild-type LIPT2, arguing for LIPT2 requirement in intramitochondrial lipoate synthesis. | 28757203 |
2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
Type | IDs |
---|---|
Gene |
UniProtKB-ID:
LIPT2_HUMAN
UniprotKB:
A6NK58
UniParc:
UPI000013EFA7
EMBL:
AP001372
Ensembl:
ENSG00000175536
KO:
hsa:387787
|
Nucleutide sequences |
Ensembl_TRS:
ENST00000310109
|
Protein sequencees |
Ensembl_PRO:
ENSP00000309463
RefSeq:
NP_001316871.1,
NP_001316870.1,
NP_001138341.1
|
Others |
UniRef100:
UniRef100_A6NK58
UniRef90:
UniRef90_A6NK58
UniRef50:
UniRef50_A6NK58
UniGene:
Hs.591971
CCDS:
CCDS44679.1
|
{{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 |
---|---|---|---|
33001583 |
BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A. Thorac Cancer Chun-Guo Mao , Sha-Sha Jiang , Cheng Shen , Tan Long , Hua Jin , Qun-You Tan , Bo Deng |
2020-11-01 | - |
28757203 |
Am J Hum Genet Florence Habarou , Yamina Hamel , Tobias B Haack , René G Feichtinger , Elise Lebigot , Iris Marquardt , Kanetee Busiah , Cécile Laroche , Marine Madrange , Coraline Grisel , Clément Pontoizeau , Monika Eisermann , Audrey Boutron , Dominique Chrétien , Bernadette Chadefaux-Vekemans , Robert Barouki , Christine Bole-Feysot , Patrick Nitschke , Nicolas Goudin , Nathalie Boddaert , Ivan Nemazanyy , Agnès Delahodde , Stefan Kölker , Richard J Rodenburg , G Christoph Korenke , Thomas Meitinger , Tim M Strom , Holger Prokisch , Agnes Rotig , Chris Ottolenghi , Johannes A Mayr , Pascale de Lonlay |
2017-08-03 | - |
28628643 |
Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death. PLoS ONE Emanuele Bernardinelli , Roberta Costa , Giada Scantamburlo , Janet To , Rossana Morabito , Charity Nofziger , Carolina Doerrier , Gerhard Krumschnabel , Markus Paulmichl , Silvia Dossena |
2017-01-01 | - |
24777537 |
Lipoic acid biosynthesis defects. J. Inherit. Metab. Dis. Johannes A Mayr , René G Feichtinger , Frederic Tort , Antonia Ribes , Wolfgang Sperl |
2014-07-01 | - |
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 | - |
20877624 |
Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. PLoS One Sher L Hendrickson , James A Lautenberger , Leslie Wei Chinn , Michael Malasky , Efe Sezgin , Lawrence A Kingsley , James J Goedert , Gregory D Kirk , Edward D Gomperts , Susan P Buchbinder , Jennifer L Troyer , Stephen J O'Brien |
2010-09-21 | - |
16554811 |
Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature Todd D Taylor , Hideki Noguchi , Yasushi Totoki , Atsushi Toyoda , Yoko Kuroki , Ken Dewar , Christine Lloyd , Takehiko Itoh , Tadayuki Takeda , Dae-Won Kim , Xinwei She , Karen F Barlow , Toby Bloom , Elspeth Bruford , Jean L Chang , Christina A Cuomo , Evan Eichler , Michael G FitzGerald , David B Jaffe , Kurt LaButti , Robert Nicol , Hong-Seog Park , Christopher Seaman , Carrie Sougnez , Xiaoping Yang , Andrew R Zimmer , Michael C Zody , Bruce W Birren , Chad Nusbaum , Asao Fujiyama , Masahira Hattori , Jane Rogers , Eric S Lander , Yoshiyuki Sakaki |
2006-03-23 | - |
15146197 |
Nat. Biotechnol. Ralph Brandenberger , Henry Wei , Sally Zhang , Shirley Lei , Jaji Murage , Gregory J Fisk , Yan Li , Chunhui Xu , Rixun Fang , Karl Guegler , Mahendra S Rao , Ramumkar Mandalam , Jane Lebkowski , Lawrence W Stanton |
2004-06-01 |
CDH2,
NAALAD2,
GUSBP9,
GTF2IP4,
CDH3,
LOC100129083,
AGAP2-AS1,
ZNF316,
FRG1HP,
PRR23D2,
UBE2Q2P2,
HDAC5,
CTAGE8,
KLLN,
BCL2L11,
FAR2P2,
LOC100240735,
NFE2L3P2,
WASH1,
ATP2A1-AS1,
GS1-124K5.4,
TOM1L1,
MAGI2-AS3,
TMEM161B-AS1,
RBFADN,
ID2-AS1,
LOC100506639,
LOC100507073,
MMP25-AS1,
GMDS-AS1,
GJC1,
RPS10-NUDT3,
FXYD6-FXYD2,
HNRNPUL2-BSCL2,
SAE1,
ABCC5,
ERVK-10,
LOC100652758,
LINC00702,
HIF1A-AS1,
PTPRU,
PQBP1,
ERVK-25,
ERVS71-1,
NLGN4Y-AS1,
HOXC13-AS,
ARPC5,
ACTR2,
NUTM2B-AS1,
CTDSP2,
ARPC2,
CDH13,
NPTN-IT1,
LINC00678,
UCHL1-AS1,
ABI2,
TENM1,
RBM7,
CASC9,
RBM5,
LHFPL2,
TNK2,
LOC101927027,
LOC101927151,
LOC101927686,
DARS-AS1,
LINC01515,
LOC101929163,
CTD-2297D10.2,
LOC101929378,
NME6,
MFSD10,
C11orf98,
SPRY1,
CDKN1B,
CTD-2154B17.1,
LOC102723673,
LOC102724562,
U2AF1L5,
LOC102725191,
SNAPC5,
MYL12B,
ANAPC10,
BASP1,
RAPGEF3,
ARIH2,
ABHD15-AS1,
LINC01162,
LINC00428,
C1D,
MERTK,
ZBTB18,
UBE2E3,
NCOA2,
SEMA3C,
CIB2,
CHERP,
LOC105369971,
CEBPG
|
11181995 |
The sequence of the human genome. Science J C Venter , M D Adams , E W Myers , P W Li , R J Mural , G G Sutton , H O Smith , M Yandell , C A Evans , R A Holt , J D Gocayne , P Amanatides , R M Ballew , D H Huson , J R Wortman , Q Zhang , C D Kodira , X H Zheng , L Chen , M Skupski , G Subramanian , P D Thomas , J Zhang , G L Gabor Miklos , C Nelson , S Broder , A G Clark , J Nadeau , V A McKusick , N Zinder , A J Levine , R J Roberts , M Simon , C Slayman , M Hunkapiller , R Bolanos , A Delcher , I Dew , D Fasulo , M Flanigan , L Florea , A Halpern , S Hannenhalli , S Kravitz , S Levy , C Mobarry , K Reinert , K Remington , J Abu-Threideh , E Beasley , K Biddick , V Bonazzi , R Brandon , M Cargill , I Chandramouliswaran , R Charlab , K Chaturvedi , Z Deng , V Di Francesco , P Dunn , K Eilbeck , C Evangelista , A E Gabrielian , W Gan , W Ge , F Gong , Z Gu , P Guan , T J Heiman , M E Higgins , R R Ji , Z Ke , K A Ketchum , Z Lai , Y Lei , Z Li , J Li , Y Liang , X Lin , F Lu , G V Merkulov , N Milshina , H M Moore , A K Naik , V A Narayan , B Neelam , D Nusskern , D B Rusch , S Salzberg , W Shao , B Shue , J Sun , Z Wang , A Wang , X Wang , J Wang , M Wei , R Wides , C Xiao , C Yan , A Yao , J Ye , M Zhan , W Zhang , H Zhang , Q Zhao , L Zheng , F Zhong , W Zhong , S Zhu , S Zhao , D Gilbert , S Baumhueter , G Spier , C Carter , A Cravchik , T Woodage , F Ali , H An , A Awe , D Baldwin , H Baden , M Barnstead , I Barrow , K Beeson , D Busam , A Carver , A Center , M L Cheng , L Curry , S Danaher , L Davenport , R Desilets , S Dietz , K Dodson , L Doup , S Ferriera , N Garg , A Gluecksmann , B Hart , J Haynes , C Haynes , C Heiner , S Hladun , D Hostin , J Houck , T Howland , C Ibegwam , J Johnson , F Kalush , L Kline , S Koduru , A Love , F Mann , D May , S McCawley , T McIntosh , I McMullen , M Moy , L Moy , B Murphy , K Nelson , C Pfannkoch , E Pratts , V Puri , H Qureshi , M Reardon , R Rodriguez , Y H Rogers , D Romblad , B Ruhfel , R Scott , C Sitter , M Smallwood , E Stewart , R Strong , E Suh , R Thomas , N N Tint , S Tse , C Vech , G Wang , J Wetter , S Williams , M Williams , S Windsor , E Winn-Deen , K Wolfe , J Zaveri , K Zaveri , J F Abril , R Guigó , M J Campbell , K V Sjolander , B Karlak , A Kejariwal , H Mi , B Lazareva , T Hatton , A Narechania , K Diemer , A Muruganujan , N Guo , S Sato , V Bafna , S Istrail , R Lippert , R Schwartz , B Walenz , S Yooseph , D Allen , A Basu , J Baxendale , L Blick , M Caminha , J Carnes-Stine , P Caulk , Y H Chiang , M Coyne , C Dahlke , A Deslattes Mays , M Dombroski , M Donnelly , D Ely , S Esparham , C Fosler , H Gire , S Glanowski , K Glasser , A Glodek , M Gorokhov , K Graham , B Gropman , M Harris , J Heil , S Henderson , J Hoover , D Jennings , C Jordan , J Jordan , J Kasha , L Kagan , C Kraft , A Levitsky , M Lewis , X Liu , J Lopez , D Ma , W Majoros , J McDaniel , S Murphy , M Newman , T Nguyen , N Nguyen , M Nodell , S Pan , J Peck , M Peterson , W Rowe , R Sanders , J Scott , M Simpson , T Smith , A Sprague , T Stockwell , R Turner , E Venter , M Wang , M Wen , D Wu , M Wu , A Xia , A Zandieh , X Zhu |
2001-02-16 | - |
排名 | 科研单位 | 文献 |
---|---|---|
{{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
排名 | 研究人员 | 文献 |
---|---|---|
{{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员