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131118 DNAJC19

131118

DNAJC19

DnaJ heat shock protein family (Hsp40) member C19

protein-coding

Homo sapiens

基因描述

Type Description
Definition DnaJ heat shock protein family (Hsp40) member C19

研究结论

Date Results Publications
2017-05-07 01:43:00 Both DnaJC15 and DnaJC19 formed two distinct subcomplexes with Magmas at the import channel. 27330077
2015-02-14 13:10:00 The loss of DNAJC19/PHB complexes affects cardiolipin acylation and leads to the accumulation of cardiolipin species with altered acyl chains. 24856930
2013-04-27 11:16:00 A report of a new mutation in the human DNAJC19 gene that causes early onset dilated cardiomyopathy syndrome in two brothers of Finnish origin. 22797137
2010-01-21 00:00:00 The association of dilated cardiomyopathy with ataxia (DCMA) syndrome with a segment of 3q26.33 and the identification of a splice mutation in a novel gene DNAJC19 in DCMA patients. 16055927
2010-01-21 00:00:00 Dilated cardiomyopathy caused by homozygous mutations in a novel gene, DNAJC19, presumed to play a role in importation of mitochondrial proteins. 17244376

名称对应

Type IDs
Synonymous PAM18, TIM14, TIMM14
Gene
UniProtKB-ID: TIM14_HUMAN, A0A0S2Z5X1_HUMAN
UniprotKB: Q96DA6, A0A0S2Z5X1
UniParc: UPI000006CD5D, UPI0000236FEB
EMBL: AK311765, BC073989, AC008009, CH471052, BC009702, KU178861
Ensembl: ENSG00000205981
KO: hsa:131118
Nucleutide sequences
EMBL-CDS: EAW78358.1, EAW78360.1, AAH73989.1, EAW78362.1, AAH09702.1, BAG34708.1, ALQ34319.1
Ensembl_TRS: ENST00000479269, ENST00000382564, ENST00000491873
Protein sequencees
Ensembl_PRO: ENSP00000419191, ENSP00000372005, ENSP00000420767
RefSeq: NP_660304.1, NP_001177162.1
Others
UniRef100: UniRef100_Q96DA6
UniRef90: UniRef90_Q96DA6
UniRef50: UniRef50_Q96DA6
UniGene: Hs.230601
CCDS: CCDS54684.1, CCDS33895.1

全选

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