Type | Description |
---|---|
Definition | kelch repeat and BTB domain containing 13 |
Date | Results | Publications |
---|---|---|
2020-09-19 16:26:00 | KBTBD13 is an actin-binding protein that modulates muscle kinetics. | 31671076 |
2012-08-18 10:43:00 | these results demonstrate that KBTBD13 is a putative substrate adaptor for Cul3-RL that functions as a muscle specific ubiquitin ligase, and thereby implicate the ubiquitin proteasome pathway in the pathogenesis of KBTBD13-associated NEM. | 22542517 |
2011-01-22 10:28:00 | mutation screening led to the identification of a previously uncharacterized gene, KBTBD13, coding for a hypothetical protein and containing missense mutations that perfectly cosegregate with nemaline myopathy in the studied families | 21109227 |
Type | IDs |
---|---|
Synonymous | HCG1645727, NEM6 |
Gene |
UniProtKB-ID:
KBTBD_HUMAN
UniprotKB:
C9JR72
UniParc:
UPI0000161560
EMBL:
CH471082,
AC013553
Ensembl:
ENSG00000234438
KO:
hsa:390594
|
Nucleutide sequences |
EMBL-CDS:
EAW77711.1
Ensembl_TRS:
ENST00000432196
|
Protein sequencees |
Ensembl_PRO:
ENSP00000388723
RefSeq:
NP_001094832.1
|
Others |
UniRef100:
UniRef100_C9JR72
UniRef90:
UniRef90_C9JR72
UniRef50:
UniRef50_C9JR72
UniGene:
Hs.586890
CCDS:
CCDS45281.1
|
{{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 |
---|---|---|---|
31671076 |
KBTBD13 is an actin-binding protein that modulates muscle kinetics. J Clin Invest Josine M de Winter , Joery P Molenaar , Michaela Yuen , Robbert van der Pijl , Shengyi Shen , Stefan Conijn , Martijn van de Locht , Menne Willigenburg , Sylvia Jp Bogaards , Esmee Sb van Kleef , Saskia Lassche , Malin Persson , Dilson E Rassier , Tamar E Sztal , Avnika A Ruparelia , Viola Oorschot , Georg Ramm , Thomas E Hall , Zherui Xiong , Christopher N Johnson , Frank Li , Balazs Kiss , Noelia Lozano-Vidal , Reinier A Boon , Manuela Marabita , Leonardo Nogara , Bert Blaauw , Richard J Rodenburg , Benno Küsters , Jonne Doorduin , Alan H Beggs , Henk Granzier , Ken Campbell , Weikang Ma , Thomas Irving , Edoardo Malfatti , Norma B Romero , Robert J Bryson-Richardson , Baziel Gm van Engelen , Nicol C Voermans , Coen Ac Ottenheijm |
2020-02-03 | - |
22542517 |
KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. Biochem. Biophys. Res. Commun. Nyamkhishig Sambuughin , Wieslaw Swietnicki , Stephen Techtmann , Vera Matrosova , Tarina Wallace , Lev Goldfarb , Ernest Maynard |
2012-05-18 | - |
21109227 |
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am. J. Hum. Genet. Nyamkhishig Sambuughin , Kyle S Yau , Montse Olivé , Rachael M Duff , Munkhuu Bayarsaikhan , Shajia Lu , Laura Gonzalez-Mera , Padma Sivadorai , Kristen J Nowak , Gianina Ravenscroft , Frank L Mastaglia , Kathryn N North , Biljana Ilkovski , Hannie Kremer , Martin Lammens , Baziel G M van Engelen , Vicki Fabian , Phillipa Lamont , Mark R Davis , Nigel G Laing , Lev G Goldfarb |
2010-12-10 | - |
16344560 |
Genome Res. Kouichi Kimura , Ai Wakamatsu , Yutaka Suzuki , Toshio Ota , Tetsuo Nishikawa , Riu Yamashita , Jun-ichi Yamamoto , Mitsuo Sekine , Katsuki Tsuritani , Hiroyuki Wakaguri , Shizuko Ishii , Tomoyasu Sugiyama , Kaoru Saito , Yuko Isono , Ryotaro Irie , Norihiro Kushida , Takahiro Yoneyama , Rie Otsuka , Katsuhiro Kanda , Takahide Yokoi , Hiroshi Kondo , Masako Wagatsuma , Katsuji Murakawa , Shinichi Ishida , Tadashi Ishibashi , Asako Takahashi-Fujii , Tomoo Tanase , Keiichi Nagai , Hisashi Kikuchi , Kenta Nakai , Takao Isogai , Sumio Sugano |
2006-01-01 |
Nefm,
MED6,
CDH2,
PDZK1P1,
DDTL,
ABI1,
GNPDA1,
GTF2IP4,
ZSCAN30,
SRA1,
TMEM170B,
HOTAIR,
FAM86JP,
LOC100126784,
C8orf88,
LOC100128006,
RAB28P5,
MYHAS,
CDC42P3,
LOC100128979,
LOC100128993,
KTN1-AS1,
LOC100129083,
LOC100129204,
TOPORS-AS1,
LINC00484,
ZNF37BP,
FAM47E,
MRVI1-AS1,
ZNF737,
LOC100130075,
MAPT-IT1,
MIR124-2HG,
LINC00861,
LOC100130238,
LOC100130357,
PARD6G-AS1,
LOC100130547,
NFYC-AS1,
EFCAB10,
LOC100130798,
SBK3,
LOC100130849,
LOC100130872,
LOC100130880,
LOC100130987,
LOC100131047,
LINC01135,
CKMT2-AS1,
ZBTB20-AS1,
WDR86-AS1,
CCDC183-AS1,
SNAP25-AS1,
NEMP2,
ZNF503-AS2,
MIR181A1HG,
DBIL5P,
HDAC6,
MZF1-AS1,
ARMCX4,
LINC00271,
ZNF717,
LOC100132057,
LOC100132111,
CALML3-AS1,
NDUFA6-AS1,
FRG1HP,
FCGR1CP,
GXYLT1P3,
GOLGA8F,
DCAF13P3,
IPO5P1,
MSC-AS1,
SMIM9,
FAM66A,
CD24,
UXT-AS1,
JHDM1D-AS1,
UBE2Q2P2,
TEN1,
JMJD7,
PLA2G4B,
LINC00930,
PDCD6IP,
HECTD2-AS1,
ZFHX4-AS1,
FAR2P2,
LOC100233156,
PCED1B-AS1,
PIGK,
LOC100270746,
LOC100270804,
LINC00940,
ERVV-2,
MEF2B,
ZNRF2P2,
NFE2L3P2,
LINC00894,
BCDIN3D-AS1
|
16207353 |
Sequence and structural analysis of BTB domain proteins. Genome Biol. Peter J Stogios , Gregory S Downs , Jimmy J S Jauhal , Sukhjeen K Nandra , Gilbert G Privé |
2005-01-01 | - |
12805120 |
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. Brain I M P Gommans , M Davis , K Saar , M Lammens , F Mastaglia , P Lamont , G van Duijnhoven , H J ter Laak , A Reis , O J M Vogels , N Laing , B G M van Engelen , H Kremer |
2003-07-01 |
KBTBD13
|
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 |
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