DNAJC3

Last update 08 May 2025

Basic Info

Synonyms

DnaJ heat shock protein family (Hsp40) member C3, DnaJ homolog subfamily C member 3, DNAJC3

+ [11]

Introduction

Involved in the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Acts as a negative regulator of the EIF2AK4/GCN2 kinase activity by preventing the phosphorylation of eIF-2-alpha at 'Ser-52' and hence attenuating general protein synthesis under ER stress, hypothermic and amino acid starving stress conditions (By similarity). Co-chaperone of HSPA8/HSC70, it stimulates its ATPase activity. May inhibit both the autophosphorylation of EIF2AK2/PKR and the ability of EIF2AK2 to catalyze phosphorylation of the EIF2A. May inhibit EIF2AK3/PERK activity.

100 Clinical Results associated with DNAJC3

100 Translational Medicine associated with DNAJC3

0 Patents (Medical) associated with DNAJC3

156

Literatures (Medical) associated with DNAJC3

19 Nov 2024·Journal of Endocrinology

Hemin restores ACTH-induced glucocorticoid response in insulin-resistant rats

Article

Author: Cymeryng, Cora B ; Jara, Federico ; Repetto, Esteban M ; Meisner, Franco ; Vecino, Carolina ; Martinez Calejman, Camila ; Caldareri, Lilian J ; Wiszniewski, Morena

The sustained consumption of sucrose-rich diet has deleterious effects on the adrenal cortex, impairing its steroidogenic capacity. As hemin treatment has been shown to exert cytoprotective effects (e.g., by heme oxygenase 1 induction), our main goal was to analyze the adrenocortical function in rats treated with diet and hemin. Male Wistar rats fed standard chow and 30% sucrose in the drinking water (SRD) for 12 weeks ad libitum were injected with hemin for the last 2 weeks of treatment. mRNA and proteins were analyzed by real-time polymerase chain reaction, western blot or immunofluorescence, and corticosterone levels were assessed by radioimmunoassay. A decrease in lipid peroxides and an increase in the activity of catalase were detected in the SRD + H group. Moreover, pro-inflammatory markers (TNF-α, IL1β, CXCL10, NOS2, NALP3 and MCP1), IBA1+/ED1+ cells and NFκβ activation were still elevated in tissues from SRD + H-treated rats, whereas an increase in markers of macrophages with the M2-phenotype (ARG1, MRC1 and TGFβ) was also shown. Activation of ER stress in SRD-treated rats (CHOP, XBP1s and P58IPK) and the induction of apoptosis (TUNEL and the BAX/BCL2 mRNA ratio) were also attenuated by hemin. Finally, ACTH-stimulated glucocorticoid production, significantly decreased in SRD-treated rats, was upregulated by hemin. The consumption of SRD involves exposure of tissues to a higher metabolic load that could generate oxidative stress and a pro-inflammatory state. Deleterious consequences of these processes could account for the significant decrease in the ACTH-induced corticosterone output from the gland. By correcting these effects, hemin treatment was able to restore the hormone-induced adrenocortical response.

01 Sep 2024·European Journal of Ophthalmology

Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report

Article

Author: Roomets, Eva ; Mauring, Laura

Background: Leber hereditary optic neuropathy (LHON) is an inherited progressive optic neuropathy usually caused by mitochondrial DNA mutations. Recently, autosomal recessive (arLHON), which is caused by biallelic mutations in the DNAJC30 gene (usually c.152A > G), has been described. The onset of LHON before the age of 12 is uncommon and it is typically associated with a more variable clinical course and a more favorable visual prognosis than adult-onset LHON. Materials and Methods: Detailed clinical findings of a female child with vision loss due to arLHON together with choroideremia (CHM) carrier state are presented. Results: Genetic testing for the three most common mitochondrial LHON pathogenic variants was negative. On suspicion of arLHON, genetic testing was continued with the next-generation sequencing (NGS) of the nuclear DNA, identifying a homozygous pathogenic variant in DNAJC3°c.152A > G, p.(Tyr51Cys), but no alterations in the CHM gene. Idebenone treatment was started 4.5 months after the first evaluation. Clinical diagnosis of the CHM carrier state was confirmed by multiplex ligation-dependent probe amplification (MLPA) assay, which revealed a heterozygous deletion of all exons of the CHM. Conclusions: In children with acute or subacute, simultaneous, or sequential vision loss that is unresponsive to immunomodulatory treatment, LHON should be considered as a possible diagnosis. Our case emphasizes the diagnostic advantage of sequencing DNAJC30 in parallel with the mitochondrial DNA, especially in Eastern European descent patients. Genomic rearrangement testing should be considered for patients with a CHM carrier phenotype who have negative results on sequencing tests.

01 Mar 2024·3 Biotech

Genome-wide runs of homozygosity signatures in diverse Indian goat breeds

Article

Author: Ganguly, Indrajit ; Singh, Sanjeev ; Dixit, S. P. ; Kar, Dibyasha ; Bhatia, Avnish Kumar ; Dixit, S P

The present study analyzed ROH and consensus ROH regions in 102 animals of eleven diverse Indian goat (Capra hircus) breeds using whole genome sequencing. A total of 51,705 ROH and 21,271 consensus regions were identified. The mean number of ROH per animal was highest in the meat breed, Jharkhand Black (2693) and lowest in the pashmina breed, Changthangi (60). The average length of ROH (AL_ROH) was maximum in Kanniadu (974.11 Kb) and minimum in Tellicherry (146.98 Kb). Long ROH is typically associated with more recent inbreeding, whereas short ROH is connected to more ancient inbreeding. The overall ROH-based genomic inbreeding (F_ROH) was highest for Jharkhand Black (0.602) followed by Kanniadu (0.120) and Sangamneri (0.108) among all breeds. F_ROH of Jharkhand Black was higher than Kanniadu up to 5 Mb ROH length category. However, in > 20 Mb ROH length category, Kanniadu (0.98) exhibited significantly higher F_ROH than Jharkhand Black (0.46). This implies that Kanniadu had higher levels of recent inbreeding than Jharkhand Black. Despite this, due to the presence of both recent and ancient inbreeding, Jharkhand Black demonstrated higher overall F_ROH compared to Kanniadu. ROH patterns revealed dual purpose (meat and dairy) and pashmina breeds as less consanguineous while recent inbreeding was apparent in meat breeds. Analysis of ROH consensus regions identified selection sweeps in key genes governing intramuscular fat deposition, meat tenderisation, lean meat production and carcass weight (CDK4, ALOX15, CASP9, PRDM16, DVL1) in meat breeds; milk fat percentage and mammary gland development (POLD1, NOTCH2, ARHGAP35) in dual purpose (meat and dairy) breeds; while cold adaptation and hair follicle development (APOBEC1, DNAJC3, F2RL1, FGF9) in pashmina breed. MAPK, RAS, BMP and Wnt signaling pathways associated with hair follicle morphogenesis in Changthangi were also identified. PCA analysis based on ROH consensus regions revealed that meat breeds are more diverse than other goat breeds/populations.Supplementary InformationThe online version contains supplementary material available at 10.1007/s13205-024-03921-y.

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DNAJC3

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