Gene Gene information from NCBI Gene database.
Entrez ID 9093
Gene name DnaJ heat shock protein family (Hsp40) member A3
Gene symbol DNAJA3
Synonyms (NCBI Gene)
HCA57TID1Tid1-LTid1-ShTID-1
Chromosome 16
Chromosome location 16p13.3
Summary This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized t
miRNA miRNA information provided by mirtarbase database.
352
miRTarBase ID miRNA Experiments Reference
MIRT029308 hsa-miR-26b-5p Microarray 19088304
MIRT049135 hsa-miR-92a-3p CLASH 23622248
MIRT048688 hsa-miR-99a-5p CLASH 23622248
MIRT045410 hsa-miR-149-5p CLASH 23622248
MIRT043778 hsa-miR-328-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
72
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 21106534
GO:0002376 Process Immune system process IEA
GO:0002682 Process Regulation of immune system process IEA
GO:0005102 Function Signaling receptor binding IEA
GO:0005133 Function Type II interferon receptor binding IDA 11679576
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608382 11808 ENSG00000103423
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96EY1
Protein name DnaJ homolog subfamily A member 3, mitochondrial (DnaJ protein Tid-1) (hTid-1) (Hepatocellular carcinoma-associated antigen 57) (Tumorous imaginal discs protein Tid56 homolog)
Protein function Modulates apoptotic signal transduction or effector structures within the mitochondrial matrix. Affect cytochrome C release from the mitochondria and caspase 3 activation, but not caspase 8 activation. Isoform 1 increases apoptosis triggered by
PDB 2CTT , 2DN9 , 6IWS , 7X89
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00226 DnaJ 93 155 DnaJ domain Domain
PF01556 DnaJ_C 209 413 DnaJ C terminal domain Domain
PF00684 DnaJ_CXXCXGXG 236 302 DnaJ central domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in heart, liver, lung and skeletal muscles (PubMed:9683573). Also expressed in keratinocytes; expression level and distribution is altered in basal cell carcinomas (PubMed:12783860, PubMed:9683573).
Sequence
MAARCSTRWLLVVVGTPRLPAISGRGARPPREGVVGAWLSRKLSVPAFASSLTSCGPRAL
LTLRPGVSLTGTKHNPFICTASFHTSAPLAKEDYYQILGVPRNASQKEIKKAYYQLAKKY
HPDTNKDDPKAKEKFSQLAEAYEVLSDEVKRKQYD
AYGSAGFDPGASGSQHSYWKGGPTV
DPEELFRKIFGEFSSSSFGDFQTVFDQPQEYFMELTFNQAAKGVNKEFTVNIMDTCERCN
GKGNEPGTKVQHCHYCGGSGMETINTGPFVMRSTCRRCGGRGSIIISPCVVCRGAGQAKQ
KK
RVMIPVPAGVEDGQTVRMPVGKREIFITFRVQKSPVFRRDGADIHSDLFISIAQALLG
GTARAQGLYETINVTIPPGTQTDQKIRMGGKGIPRINSYGYGDHYIHIKIRVP
KRLTSRQ
QSLILSYAEDETDVEGTVNGVTLTSSGGSTMDSSAGSKARREAGEDEEGFLSKLKKMFTS
Sequence length 480
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Viral carcinogenesis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenomatous Polyposis Coli Multiple polyposis syndrome LHGDN 17588722
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 18097612
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26687188, 36776048 Associate
★☆☆☆☆
Found in Text Mining only
Basal Ganglia Diseases Basal ganglia disease Pubtator 30770860 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16204048
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21311096, 35779338 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 26919236 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Basal Cell Carcinoma BEFREE 12783860
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Dilated Cardiomyopathy BEFREE 16327803
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Dilated Cardiomyopathy LHGDN 16327803
★☆☆☆☆
Found in Text Mining only