| Type | Description |
|---|---|
| Definition | dehydrogenase E1 and transketolase domain containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-16 15:58:00 | CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model. | 32169121 |
| 2019-06-29 10:09:00 | Dhtkd1(-/-) mice mimic the major aspects of CMT2 phenotypes, characterized by progressive weakness and atrophy in the distal parts of limbs with motor and sensory dysfunctions, which are accompanied with decreased nerve conduction velocity. Moreover, DHTKD1 deficiency causes severe metabolic abnormalities and dramatically increased levels of 2-ketoadipic acid (2-KAA) and 2-aminoadipic acid (2-AAA) in urine. | 29661920 |
| 2018-12-01 12:26:00 | Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism. | 28545977 |
| 2014-12-05 11:25:00 | In the BXD mouse population, natural variants in Dhtkd1 lead to changes in metabolite levels of 2-aminoadipate and in turn are associated with diabetes status, independently of chow or high fat diet feeding. | 25215496 |
| Type | IDs |
|---|---|
| Synonymous | C330018I04Rik |
| Gene |
UniProtKB-ID:
DHTK1_MOUSE
UniprotKB:
A2ATU0
UniParc:
UPI00001C2577
EMBL:
AK050057,
AK173223,
AL928924,
BC117994
Ensembl:
ENSMUSG00000025815
KO:
mmu:209692
|
| Nucleutide sequences |
EMBL-CDS:
BAD32501.1,
AAI17995.1,
BAC34055.1
Ensembl_TRS:
ENSMUST00000026924,
ENSMUST00000095147
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000092769,
ENSMUSP00000026924
RefSeq:
XP_017172366.1,
XP_036016106.1,
XP_036016109.1,
XP_017172367.1,
XP_036016107.1,
XP_036016110.1,
NP_001074600.1,
XP_017172368.1
|
| Others |
UniRef100:
UniRef100_A2ATU0
UniRef90:
UniRef90_A2ATU0
UniRef50:
UniRef50_Q96HY7
UniGene:
Mm.222517
CCDS:
CCDS38040.1
|
| {{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 |
|---|---|---|---|
| 32169121 |
Acta Neuropathol Commun Chun-Jie Luan , Wenting Guo , Lei Chen , Xi-Wei Wei , Yimin He , Yan Chen , Su-Ying Dang , Robert Prior , Xihua Li , Ying Kuang , Zhu-Gang Wang , Ludo Van Den Bosch , Ming-Min Gu |
2020-03-13 | - |
| 29661920 |
DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. Mol Cell Biol Wang-Yang Xu , Houbao Zhu , Yan Shen , Ying-Han Wan , Xiao-Die Tu , Wen-Ting Wu , Lingyun Tang , Hong-Xin Zhang , Shun-Yuan Lu , Xiao-Long Jin , Jian Fei , Zhu-Gang Wang |
2018-07-01 | - |
| 28545977 |
Biochim Biophys Acta Mol Basis Dis Caroline Biagosch , Raga Deepthi Ediga , Svenja-Viola Hensler , Michael Faerberboeck , Ralf Kuehn , Wolfgang Wurst , Thomas Meitinger , Stefan Kölker , Sven Sauer , Holger Prokisch |
2017-09-01 | - |
| 25215496 |
Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population. Cell Yibo Wu , Evan G Williams , Sébastien Dubuis , Adrienne Mottis , Virginija Jovaisaite , Sander M Houten , Carmen A Argmann , Pouya Faridi , Witold Wolski , Zoltán Kutalik , Nicola Zamboni , Johan Auwerx , Ruedi Aebersold |
2014-09-11 | - |
| 24029230 |
Cancer Cell Akiko Nagamachi , Hirotaka Matsui , Hiroya Asou , Yuko Ozaki , Daisuke Aki , Akinori Kanai , Keiyo Takubo , Toshio Suda , Takuro Nakamura , Linda Wolff , Hiroaki Honda , Toshiya Inaba |
2013-09-09 |
Gm13242,
Papd4,
Wdr7,
Ly76,
Pld4,
Ston2,
Krt75,
Slc8a3,
Vmn1r13,
Krtap5-5,
Cebpd,
Eef2,
Muc4,
Gsr,
Ptpn6,
Hoxb3,
Itgam,
Itgb3,
Kcnab2,
Lamp1,
Vmn1r214,
Pdgfra,
Pdgfrb,
Sirpa,
Ptprc,
Ptprz1,
Rbmy,
Rest,
Sin3a,
Serpinb9f,
Samd9l,
Dhtkd1,
Mmp21,
Eea1,
Thy1,
4930474N05Rik,
Arl11,
Top2a,
Prrc2c,
Ppp4r2,
Tcaf2,
Ptprq,
Bves,
Muc19,
Dact2,
Wdr78,
Siglecg,
Rbm47,
Zbtb24,
Rab5a,
Tmem91,
Abca15,
6330408A02Rik,
Dock1,
Kcp,
Mrgprx1,
Agpat5,
Arhgef7,
Vmn2r74,
Srsf4,
Tnfrsf13b,
Smpd3,
Rrs1,
Heatr9,
Zfp784,
Slc7a6os,
Gpatch4,
Acp6,
Herc6,
Dock7,
Narfl,
4930430F08Rik,
Eml1,
Hrnr,
Anln,
Cyp2c66,
Tmem143,
3830403N18Rik,
Col24a1,
Serpinb12,
Esco2,
Pygo1,
Ssbp3,
Sipa1l3,
Wdr38,
Armc6,
Tmem190,
Apobec3,
SAMD9,
EEA1
|
| 22496890 |
PLoS ONE Srinivas B Narayan , Stephen R Master , Anthony N Sireci , Charlene Bierl , Paige E Stanley , Changhong Li , Charles A Stanley , Michael J Bennett |
2012-01-01 |
Hadh
|
| 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 | - |
| 21267068 |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. Graciana Diez-Roux , Sandro Banfi , Marc Sultan , Lars Geffers , Santosh Anand , David Rozado , Alon Magen , Elena Canidio , Massimiliano Pagani , Ivana Peluso , Nathalie Lin-Marq , Muriel Koch , Marchesa Bilio , Immacolata Cantiello , Roberta Verde , Cristian De Masi , Salvatore A Bianchi , Juliette Cicchini , Elodie Perroud , Shprese Mehmeti , Emilie Dagand , Sabine Schrinner , Asja Nürnberger , Katja Schmidt , Katja Metz , Christina Zwingmann , Norbert Brieske , Cindy Springer , Ana Martinez Hernandez , Sarah Herzog , Frauke Grabbe , Cornelia Sieverding , Barbara Fischer , Kathrin Schrader , Maren Brockmeyer , Sarah Dettmer , Christin Helbig , Violaine Alunni , Marie-Annick Battaini , Carole Mura , Charlotte N Henrichsen , Raquel Garcia-Lopez , Diego Echevarria , Eduardo Puelles , Elena Garcia-Calero , Stefan Kruse , Markus Uhr , Christine Kauck , Guangjie Feng , Nestor Milyaev , Chuang Kee Ong , Lalit Kumar , MeiSze Lam , Colin A Semple , Attila Gyenesei , Stefan Mundlos , Uwe Radelof , Hans Lehrach , Paolo Sarmientos , Alexandre Reymond , Duncan R Davidson , Pascal Dollé , Stylianos E Antonarakis , Marie-Laure Yaspo , Salvador Martinez , Richard A Baldock , Gregor Eichele , Andrea Ballabio |
2011-01-18 | - |
| 18799693 |
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Genome Res. Gwenn M Hansen , Diane C Markesich , Michael B Burnett , Qichao Zhu , Karen M Dionne , Lizabeth J Richter , Richard H Finnell , Arthur T Sands , Brian P Zambrowicz , Alejandro Abuin |
2008-10-01 |
Gm11335,
Gm17762,
A930017K11Rik,
BC028777,
Gm13999,
Gm11696,
Gm12359,
Gm10589,
D030047H15Rik,
Gm10856,
Gm10685,
Gm10062,
Gm10433,
Gm10648,
Gm10840,
Gm15441,
Gm10684,
Gm9900,
Gm10822,
Gm10687,
Gm11744,
Gm10747,
Arih2os,
B230344G16Rik,
Fmr1os,
Tmem51os1,
Gm14488,
Gm13033,
Gm10789,
Gm10615,
Gm1976,
Gm9967,
Gm9917,
Gm1974,
Gm11496,
Gm13580,
Gm2085,
Gm2183,
Gm2245,
Tbx3os1,
Gm12980,
Gm2329,
Lncenc1,
Gm2381,
Snhg12,
Gm2479,
Gm12942,
Gm2529,
Gm2533,
Rpl30-ps7,
Rsf1os2,
Gm2695,
2810416G20Rik,
Rpl30-ps6,
Gm2773,
Gm2788,
Dynlt1f,
Gm9793,
Gm2885,
Gm2920,
Gm15506,
Gm11627,
Gm10518,
Gm13496,
Gm3134,
Gm12827,
Gm3143,
Gm10144,
Ahnak2,
Gm3196,
Gm13242,
Gm3325,
Gm13247,
Gm10863,
Gm13157,
4930522L14Rik,
Gm3552,
Gm15226,
Gm3604,
Gm3643,
BC005561,
Gm3716,
2810410L24Rik,
Gm10282,
Gm3839,
Nhsl2,
4732419C18Rik,
Gm3906,
Gm3973,
Gm4013,
Apol7d,
Gm12057,
Gm10489,
Rex2,
1110002L01Rik,
Gm4189,
Gm4204,
4632428C04Rik,
9130023H24Rik
|
| 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 | - |
| 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