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23317 DNAJC13

23317

DNAJC13

DnaJ heat shock protein family (Hsp40) member C13

protein-coding

Homo sapiens

基因描述

Type Description
Definition DnaJ heat shock protein family (Hsp40) member C13

研究结论

Date Results Publications
2021-02-27 13:49:00 Receptor-mediated endocytosis 8 (RME-8)/DNAJC13 is a novel positive modulator of autophagy and stabilizes cellular protein homeostasis. 32322926
2019-09-14 10:43:00 This study showed the DNAJC13 mutation screening in patients with Parkinson's disease. 29887357
2019-01-05 11:02:00 Parkinson's disease-linked DNAJC13 mutation perturbs multi-directional endosomal trafficking, resulting in the aberrant endosomal retention of alpha-synuclein, which might predispose to the neurodegenerative process that leads to Parkinson's disease. 29309590
2017-10-21 12:16:00 There is a possibility that specific DNAJC13 variants may play a minor role in PD susceptibility. 27236598
2016-04-23 11:50:00 Mutations in exon 24 of DNAJC13 are not a common cause of Parkinson or Lewy body disease among Caucasian populations. 26278106

名称对应

Type IDs
Synonymous PARK21, RME8
Gene
UniProtKB-ID: DJC13_HUMAN, B3KN02_HUMAN
UniprotKB: O75165, B3KN02
UniParc: UPI000022C1FD, UPI000015F64A
EMBL: BC043583, BC000164, BC040638, AB014578, AC020632, AY369172, AC020633, AK125330, AK023168, AC026374, BC009630, AK127112, AY779857
Ensembl: ENSG00000138246
KO: hsa:23317
Nucleutide sequences
EMBL-CDS: AAH40638.1, AAH00164.2, BAC86835.1, AAQ57271.1, AAH09630.1, AAH43583.1, AAV41096.1, BAA31653.2, BAC86133.1, BAG51164.1
Ensembl_TRS: ENST00000260818
Protein sequencees
Ensembl_PRO: ENSP00000260818
RefSeq: NP_001316055.1, NP_056083.3, XP_016861525.1
Others
UniRef100: UniRef100_B3KN02, UniRef100_O75165
UniRef90: UniRef90_O75165, UniRef90_G3TEA9
UniRef50: UniRef50_G3TEA9, UniRef50_O75165
UniGene: Hs.12707
CCDS: CCDS33857.1

全选

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