DNAJC3 gene

DnaJ heat shock protein family (Hsp40) member C3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010]

From UniProt:

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.

From NCBI Gene:

  • Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus

From UniProt:

Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD): A disease characterized by juvenile-onset diabetes and neurodegeneration, resulting in ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy. [MIM:616192]

Cytogenetic Location: 13q32.1, which is the long (q) arm of chromosome 13 at position 32.1

Molecular Location: base pairs 95,677,139 to 95,794,989 on chromosome 13 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 13q32.1, which is the long (q) arm of chromosome 13 at position 32.1
  • ACPHD
  • ERdj6
  • HP58
  • P58
  • P58IPK
  • PRKRI