Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5611
Gene name Gene Name - the full gene name approved by the HGNC.
DnaJ heat shock protein family (Hsp40) member C3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAJC3
Synonyms (NCBI Gene) Gene synonyms aliases
ACPHD, ERdj6, HP58, P58, P58IPK, PRKRI, p58(IPK)
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ACPHD
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q32.1
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs727502865 C>T Uncertain-significance, pathogenic Stop gained, coding sequence variant
rs1131691593 C>T Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018911 hsa-miR-335-5p Microarray 18185580
MIRT026830 hsa-miR-192-5p Microarray 19074876
MIRT028642 hsa-miR-30a-5p Proteomics 18668040
MIRT688447 hsa-miR-548av-5p HITS-CLIP 23313552
MIRT688446 hsa-miR-548k HITS-CLIP 23313552
Transcription factors
Transcription factor Regulation Reference
ATF6 Activation 12601012
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004860 Function Protein kinase inhibitor activity ISS
GO:0005576 Component Extracellular region TAS
GO:0005737 Component Cytoplasm TAS 8666242
GO:0005783 Component Endoplasmic reticulum IBA 21873635
GO:0005783 Component Endoplasmic reticulum ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601184 9439 ENSG00000102580
Protein
UniProt ID Q13217
Protein name DnaJ homolog subfamily C member 3 (Endoplasmic reticulum DNA J domain-containing protein 6) (ER-resident protein ERdj6) (ERdj6) (Interferon-induced, double-stranded RNA-activated protein kinase inhibitor) (Protein kinase inhibitor of 58 kDa) (Protein kina
Protein 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
PDB 2Y4T , 2Y4U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13432 TPR_16 41 103 Family
PF00515 TPR_1 106 138 Tetratricopeptide repeat Repeat
PF13181 TPR_8 222 255 Tetratricopeptide repeat Repeat
PF00226 DnaJ 394 459 DnaJ domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with high level in the pancreas and testis. Also expressed in cell lines with different levels. {ECO:0000269|PubMed:8666242}.
Sequence
MVAPGSVTSRLGSVFPFLLVLVDLQYEGAECGVNADVEKHLELGKKLLAAGQLADALSQF
HAAVDGDPDNYIAYYRRATVFLAMGKSKAALPDLTKVIQLKMD
FTAARLQRGHLLLKQGK
LDEAEDDFKKVLKSNPSE
NEEKEAQSQLIKSDEMQRLRSQALNAFGSGDYTAAIAFLDKI
LEVCVWDAELRELRAECFIKEGEPRKAISDLKAASKLKNDNTEAFYKISTLYYQLGDHEL
SLSEVRECLKLDQDH
KRCFAHYKQVKKLNKLIESAEELIRDGRYTDATSKYESVMKTEPS
IAEYTVRSKERICHCFSKDEKPVEAIRVCSEVLQMEPDNVNALKDRAEAYLIEEMYDEAI
QDYETAQEHNENDQQIREGLEKAQRLLKQSQKRDYYKILGVKRNAKKQEIIKAYRKLALQ
WHPDNFQNEEEKKKAEKKFIDIAAAKEVLSDPEMRKKFD
DGEDPLDAESQQGGGGNPFHR
SWNSWQGFNPFSSGGPFRFKFHFN
Sequence length 504
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Protein processing in endoplasmic reticulum
Influenza A
  Viral mRNA Translation
XBP1(S) activates chaperone genes
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Neutrophil degranulation
Post-translational protein phosphorylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Diabetes mellitus-central and peripheral neurodegeneration syndrome Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome rs398122404, rs1131691593
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Mental retardation Mild Mental Retardation rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Diabetes Mellitus type 2 diabetes mellitus GenCC
Associations from Text Mining
Disease Name Relationship Type References
Ataxia Associate 25466870
Atrophy Associate 25466870
Breast Neoplasms Associate 22064321, 34895046
Carcinoma Renal Cell Associate 33629299
Colitis Ulcerative Associate 35185383
Colorectal Neoplasms Inhibit 32352854
Crohn Disease Stimulate 31557250
Diabetes Mellitus Associate 25466870, 34630333
Diabetes Mellitus Type 1 Associate 25466870, 34630333
Diabetes Mellitus Type 2 Associate 34630333