Type | Description |
---|---|
Definition | THAP domain containing, apoptosis associated protein 1 |
Date | Results | Publications |
---|---|---|
2018-06-23 11:09:00 | Dysfunction in similar pathways occurring with mutations in THAP1 as well as diverse dystonia genes highlight a point of convergence in the pathophysiology of several forms of inherited dystonia. | 29364887 |
2018-05-05 10:47:00 | Wild-type THAP1 regulates embryonic stem cell (ESC) potential, survival, and proliferation. Loss of THAP1 or replacement with a disease-causing mutation results in an enhanced rate of cell death, prolongs Nanog, Prdm14, and/or Rex1 expression upon differentiation, and results in failure to upregulate ectodermal genes. | 28579396 |
2017-09-30 12:56:00 | These studies establish a role for THAP1 transcriptional regulation at the inception of myelination and implicate abnormal timing of myelination in the pathogenesis of childhood-onset dystonia. | 28697333 |
Type | IDs |
---|---|
Synonymous | 4833431A01Rik, AW490810 |
Gene |
UniProtKB-ID:
THAP1_MOUSE
UniprotKB:
Q8CHW1
UniParc:
UPI00000240FA
EMBL:
BC038639
Ensembl:
ENSMUSG00000037214
KO:
mmu:73754
|
Nucleutide sequences |
EMBL-CDS:
AAH38639.1
Ensembl_TRS:
ENSMUST00000036807
|
Protein sequencees |
Ensembl_PRO:
ENSMUSP00000042464
RefSeq:
NP_950243.1
|
Others |
UniRef100:
UniRef100_Q8CHW1
UniRef90:
UniRef90_Q8CHW1
UniRef50:
UniRef50_Q9NVV9
UniGene:
Mm.383241
CCDS:
CCDS22208.1
|
{{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 |
---|---|---|---|
30590536 |
Hum. Mol. Genet. Natalie M Frederick , Parth V Shah , Alessandro Didonna , Monica R Langley , Anumantha G Kanthasamy , Puneet Opal |
2019-04-15 | - |
29364887 |
PLoS Genet. Zuchra Zakirova , Tomas Fanutza , Justine Bonet , Ben Readhead , Weijia Zhang , Zhengzi Yi , Genevieve Beauvais , Thomas P Zwaka , Laurie J Ozelius , Robert D Blitzer , Pedro Gonzalez-Alegre , Michelle E Ehrlich |
2018-01-01 | - |
28579396 |
THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation. Stem Cell Reports Francesca Aguilo , Zuchra Zakirova , Katie Nolan , Ryan Wagner , Rajal Sharma , Megan Hogan , Chengguo Wei , Yifei Sun , Martin J Walsh , Kevin Kelley , Weijia Zhang , Laurie J Ozelius , Pedro Gonzalez-Alegre , Thomas P Zwaka , Michelle E Ehrlich |
2017-07-11 | - |
28697333 |
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage. Dev. Cell Dhananjay Yellajoshyula , Chun-Chi Liang , Samuel S Pappas , Silvia Penati , Angela Yang , Rodan Mecano , Ravindran Kumaran , Stephanie Jou , Mark R Cookson , William T Dauer |
2017-07-10 | - |
26376866 |
Hum. Mol. Genet. Marta Ruiz , Georgina Perez-Garcia , Maitane Ortiz-Virumbrales , Aurelie Méneret , Andrika Morant , Jessica Kottwitz , Tania Fuchs , Justine Bonet , Pedro Gonzalez-Alegre , Patrick R Hof , Laurie J Ozelius , Michelle E Ehrlich |
2015-12-20 |
Gnal,
Oprm1,
Ppp1r1b,
Tbr1,
Th,
Tubb3,
Tor1a,
Thap1
|
26238476 |
Spatiotemporal regulation of GLI target genes in the mammalian limb bud. Dev. Biol. Jordan P Lewandowski , Fang Du , Shilu Zhang , Marian B Powell , Kristin N Falkenstein , Hongkai Ji , Steven A Vokes |
2015-10-01 |
Pkdcc,
Tecr,
Osr2,
Ap1s2,
Pmch,
Ppp2r4,
Alx4,
Apoa2,
Aprt,
Avpr2,
Prdm1,
Bmp2,
Bmp4,
Bmpr1b,
Runx3,
Cdk6,
Cntfr,
Dcn,
Dlk1,
Dlx5,
Drd3,
Ebf3,
Sparcl1,
Ednrb,
Efna1,
Eomes,
Epha3,
Foxf2,
Fzd7,
Gata5,
Gli1,
Grcc10,
Hand2,
Hccs,
Foxf1,
Hhip,
Hmga1,
Hoxa7,
Hoxb4,
Hoxc4,
Hoxd10,
Hoxd11,
Hoxd13,
Id3,
Ier2,
Ier5,
Igf1r,
Inha,
Irx3,
Isl1,
Jag1,
Kit,
Klf3,
Klf9,
Lum,
Xpnpep2,
Zfp704,
Slc8b1,
Smad7,
Meis1,
Mgmt,
Meis2,
Polr2k,
Myl4,
Nfe2l3,
Cldn11,
Pam,
Pax1,
Pax9,
Pbx1,
Enpp1,
Prkce,
Ptch1,
Ptch2,
Igdcc3,
Aldh1a2,
Mrpl23,
Sfrp2,
Shcbp1,
Slc2a1,
Ncor2,
Sox4,
Sp1,
Sall3,
Depdc7,
Pqlc2,
Tank,
Tbx2,
Tbx3,
Tbx4,
Lrrc20,
Tmem5,
Tcte3,
Stxbp6,
Tpd52l1,
Wnt11,
Cyyr1,
Xpa,
Zfp281
|
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 | - |
18287559 |
GUDMAP: the genitourinary developmental molecular anatomy project. J Am Soc Nephrol Andrew P McMahon , Bruce J Aronow , Duncan R Davidson , Jamie A Davies , Kevin W Gaido , Sean Grimmond , James L Lessard , Melissa H Little , S Steven Potter , Elizabeth L Wilder , Pumin Zhang , GUDMAP project |
2008-04-01 | - |
17967808 |
EUCOMM--the European conditional mouse mutagenesis program. Brief Funct Genomic Proteomic Roland H Friedel , Claudia Seisenberger , Cornelia Kaloff , Wolfgang Wurst |
2007-09-01 |
Gm11696,
Gm10589,
Apela,
Gm10822,
Gm2085,
Gm2312,
Lncenc1,
Gm2381,
Gm2659,
Gm2679,
Dynlt1c,
Gm3134,
Gm3143,
Gm3236,
Gm3574,
Gm3581,
Gm3718,
Gm3859,
Gm3905,
Gm3952,
Gm3957,
Gm3973,
Gm12057,
Rex2,
Gm4218,
Gm4225,
Gm16476,
Gm4407,
Gm14410,
Gm4420,
Gm14005,
1300002E11Rik,
Gm4532,
Srcap,
Gm17789,
Gm10751,
Gm14321,
0610009E02Rik,
Gm12758,
Gm11532,
Phactr4,
Rusc2,
AK010878,
Gm10778,
5830417I10Rik,
Mir1902,
Gm15270,
Gm11767,
Ino80dos,
Bsdc1,
Gm7645,
Gm20590,
Slc44a1,
Gm15545,
Gm17292,
2900009J06Rik,
Kifc1,
Gm13150,
Gm19426,
Gm19428,
Gm19474,
Gm14963,
Gm19565,
Gm19592,
Gm12588,
Snhg4,
Gm19702,
Gm19705,
Platr22,
Nuggc,
Zfp534,
Gm19860,
Gm11725,
Gm19876,
Gm19889,
Gm16201,
Gm13056,
Tnfsf13os,
Gm19925,
Gm19976,
Gm20014,
Gm16740,
Gm20039,
Gm20045,
AU020206,
Ccdc170,
Trp53cor1,
Gm20266,
Gm20324,
Zfp518b,
Gm14401,
AI480526,
Pds5b,
Ube3c,
Gm21297,
Akap9,
Gm29724,
Itfg2,
Parp11
|
16141072 |
The transcriptional landscape of the mammalian genome. Science P Carninci , T Kasukawa , S Katayama , J Gough , M C Frith , N Maeda , R Oyama , T Ravasi , B Lenhard , C Wells , R Kodzius , K Shimokawa , V B Bajic , S E Brenner , S Batalov , A R R Forrest , M Zavolan , M J Davis , L G Wilming , V Aidinis , J E Allen , A Ambesi-Impiombato , R Apweiler , R N Aturaliya , T L Bailey , M Bansal , L Baxter , K W Beisel , T Bersano , H Bono , A M Chalk , K P Chiu , V Choudhary , A Christoffels , D R Clutterbuck , M L Crowe , E Dalla , B P Dalrymple , B de Bono , G Della Gatta , D di Bernardo , T Down , P Engstrom , M Fagiolini , G Faulkner , C F Fletcher , T Fukushima , M Furuno , S Futaki , M Gariboldi , P Georgii-Hemming , T R Gingeras , T Gojobori , R E Green , S Gustincich , M Harbers , Y Hayashi , T K Hensch , N Hirokawa , D Hill , L Huminiecki , M Iacono , K Ikeo , A Iwama , T Ishikawa , M Jakt , A Kanapin , M Katoh , Y Kawasawa , J Kelso , H Kitamura , H Kitano , G Kollias , S P T Krishnan , A Kruger , S K Kummerfeld , I V Kurochkin , L F Lareau , D Lazarevic , L Lipovich , J Liu , S Liuni , S McWilliam , M Madan Babu , M Madera , L Marchionni , H Matsuda , S Matsuzawa , H Miki , F Mignone , S Miyake , K Morris , S Mottagui-Tabar , N Mulder , N Nakano , H Nakauchi , P Ng , R Nilsson , S Nishiguchi , S Nishikawa , F Nori , O Ohara , Y Okazaki , V Orlando , K C Pang , W J Pavan , G Pavesi , G Pesole , N Petrovsky , S Piazza , J Reed , J F Reid , B Z Ring , M Ringwald , B Rost , Y Ruan , S L Salzberg , A Sandelin , C Schneider , C Schönbach , K Sekiguchi , C A M Semple , S Seno , L Sessa , Y Sheng , Y Shibata , H Shimada , K Shimada , D Silva , B Sinclair , S Sperling , E Stupka , K Sugiura , R Sultana , Y Takenaka , K Taki , K Tammoja , S L Tan , S Tang , M S Taylor , J Tegner , S A Teichmann , H R Ueda , E van Nimwegen , R Verardo , C L Wei , K Yagi , H Yamanishi , E Zabarovsky , S Zhu , A Zimmer , W Hide , C Bult , S M Grimmond , R D Teasdale , E T Liu , V Brusic , J Quackenbush , C Wahlestedt , J S Mattick , D A Hume , C Kai , D Sasaki , Y Tomaru , S Fukuda , M Kanamori-Katayama , M Suzuki , J Aoki , T Arakawa , J Iida , K Imamura , M Itoh , T Kato , H Kawaji , N Kawagashira , T Kawashima , M Kojima , S Kondo , H Konno , K Nakano , N Ninomiya , T Nishio , M Okada , C Plessy , K Shibata , T Shiraki , S Suzuki , M Tagami , K Waki , A Watahiki , Y Okamura-Oho , H Suzuki , J Kawai , Y Hayashizaki , FANTOM Consortium , RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group) |
2005-09-02 | - |
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