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5611 DNAJC3

5611

DNAJC3

DnaJ heat shock protein family (Hsp40) member C3

protein-coding

Homo sapiens

基因描述

Type Description
Definition DnaJ heat shock protein family (Hsp40) member C3

研究结论

Date Results Publications
2021-02-27 13:51:00 DNAJC3 deficiency induces beta-cell mitochondrial apoptosis and causes syndromic young-onset diabetes. 33486469
2020-03-28 11:41:00 DNAJC3-AS1 is up-regulated in osteosarcoma (OS) tissues and its high expression is associated with poor prognosis of OS patients. 30652414
2018-10-13 11:49:00 DNAJC3 p.H238N is likely to be a variant causing diabetes. 29767246
2015-03-21 10:34:00 p58IPK is a general inhibitor of the eIF2alpha kinases in that it also interacts with GCN2. Thus forced overexpression of cytoplasmic p58 delays eIF2alpha phosphorylation, suppresses GCN2 phosphorylation and prolongs protein synthesis 25329545
2015-02-28 12:17:00 Loss-of-function DNAJC3 mutations lead to a monogenic, recessive form of diabetes mellitus in humans. 25466870

名称对应

Type IDs
Synonymous ACPHD, ERdj6, HP58, P58, P58IPK, PRKRI
Gene
UniProtKB-ID: DNJC3_HUMAN, A8KA82_HUMAN
UniprotKB: Q13217, A8KA82
UniParc: UPI000006F088
EMBL: AK292947, U28424, AY795482, BC047936, AL138955, CH471085, AK312861
Ensembl: ENSG00000102580
KO: hsa:5611
Nucleutide sequences
EMBL-CDS: AAC50502.1, AAH47936.2, AAV40838.1, BAG35713.1, EAX08959.1, BAF85636.1
Gene_ORFName: hCG_28703
Ensembl_TRS: ENST00000602402
Protein sequencees
Ensembl_PRO: ENSP00000473631
RefSeq: XP_011519406.1, NP_006251.1, XP_011519407.1, XP_016876163.1, XP_016876164.1
Others
UniRef100: UniRef100_Q13217
UniRef90: UniRef90_Q13217
UniRef50: UniRef50_Q13217
UniGene: Hs.59214
CCDS: CCDS9479.1

全选

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