DNAJC3
entrez
5611
canonical
uniprot
Q13217
canonical
ensembl
ENSG00000102580
resolver
ensp
ENSP00000473631
resolver
ensp
ENSP00000550291
resolver
enst
ENST00000602402
resolver
genesymbol
DNAJC3
resolver
genesymbol_syn
P58IPK
resolver
genesymbol_syn
PRKRI
resolver
hgnc
HGNC:9439
resolver
uniprot
A8KA82
resolver
uniprot
Q86WT9
resolver
uniprot
Q8N4N2
resolver
uniprot_entry
A8KA82_HUMAN
resolver
uniprot_entry
DNJC3_HUMAN
resolver
uniprot_sec
Q86WT9
resolver
uniprot_sec
Q8N4N2
resolver
amino_acid_sequence
MVAPGSVTSRLGSVFPFLLVLVDLQYEGAECGVNADVEKHLELGKKLLAAGQLADALSQFHAAVDGDPDNYIAYYRRATVFLAMGKSKAALPDLTKVIQLKMDFTAARLQRGHLLLKQGKLDEAEDDFKKVLKSNPSENEEKEAQSQLIKSDEMQRLRSQALNAFGSGDYTAAIAFLDKILEVCVWDAELRELRAECFIKEGEPRKAISDLKAASKLKNDNTEAFYKISTLYYQLGDHELSLSEVRECLKLDQDHKRCFAHYKQVKKLNKLIESAEELIRDGRYTDATSKYESVMKTEPSIAEYTVRSKERICHCFSKDEKPVEAIRVCSEVLQMEPDNVNALKDRAEAYLIEEMYDEAIQDYETAQEHNENDQQIREGLEKAQRLLKQSQKRDYYKILGVKRNAKKQEIIKAYRKLALQWHPDNFQNEEEKKKAEKKFIDIAAAKEVLSDPEMRKKFDDGEDPLDAESQQGGGGNPFHRSWNSWQGFNPFSSGGPFRFKFHFN
uniprot
proteins
disease_involvement
DISEASE: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) [MIM:616192]: A disease characterized by juvenile-onset diabetes and neurodegeneration, resulting in ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy. {ECO:0000269|PubMed:25466870}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000250|UniProtKB:Q27968, ECO:0000250|UniProtKB:Q91YW3, ECO:0000269|PubMed:12601012, ECO:0000269|PubMed:8576172, ECO:0000269|PubMed:9447982, ECO:0000269|PubMed:9920933}.
uniprot
proteins
mass_dalton
57580
uniprot
proteins
pubmed
12601012
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21799829
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25466870
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26091039
uniprot
proteins
pubmed
8576172
uniprot
proteins
pubmed
8666242
uniprot
proteins
pubmed
9447982
uniprot
proteins
pubmed
9920933
uniprot
proteins
sequence_length
504
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250}.
uniprot
proteins