Human Gene DNAJA3 (ENST00000262375.11) from GENCODE V44
Description: Homo sapiens DnaJ heat shock protein family (Hsp40) member A3 (DNAJA3), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005147) RefSeq Summary (NM_005147): 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 to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]. Gencode Transcript: ENST00000262375.11 Gencode Gene: ENSG00000103423.14 Transcript (Including UTRs) Position: hg38 chr16:4,425,868-4,456,775 Size: 30,908 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chr16:4,425,882-4,454,914 Size: 29,033 Coding Exon Count: 11
ID:DNJA3_HUMAN DESCRIPTION: RecName: Full=DnaJ homolog subfamily A member 3, mitochondrial; AltName: Full=DnaJ protein Tid-1; Short=hTid-1; AltName: Full=Hepatocellular carcinoma-associated antigen 57; AltName: Full=Tumorous imaginal discs protein Tid56 homolog; Flags: Precursor; 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 both TNF and the DNA-damaging agent mytomycin C; in sharp contrast, isoform 2 suppresses apoptosis. Can modulate IFN-gamma- mediated transcriptional activity. Isoform 2 may play a role in neuromuscular junction development as an effector of the MUSK signaling pathway. SUBUNIT: Interacts with JAK2, HSPA9B and IFN-gammaR2 chain. Interacts with Ras GTPase-activating protein 1 (RASA1). Isoform 2 interacts with MUSK (via the cytoplasmic domain) (By similarity). INTERACTION: P08581:MET; NbExp=2; IntAct=EBI-3952284, EBI-1039152; P51692:STAT5B; NbExp=2; IntAct=EBI-356767, EBI-1186119; P42232:Stat5b (xeno); NbExp=2; IntAct=EBI-3952284, EBI-617454; SUBCELLULAR LOCATION: Mitochondrion matrix. Cytoplasm, cytosol (By similarity). Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein (By similarity). Note=Recruited to the postsynaptic cell membrane of the neuromuscular junction through interaction with MUSK (By similarity). TISSUE SPECIFICITY: Widely expressed with highest levels in heart, liver, lung and skeletal muscles. Also expressed in keratinocytes. DOMAIN: Modulation of apoptosis, i.e proapoptotic activity of isoform 1 and antiapoptotic activity of isoform 2, is J domain- dependent. PTM: Tyrosine phosphorylated (By similarity). PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. SIMILARITY: Contains 1 CR-type zinc finger. SIMILARITY: Contains 1 J domain. SEQUENCE CAUTION: Sequence=AAF66245.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAF66245.1; Type=Frameshift; Positions=408, 411; Sequence=AAH12343.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96EY1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006264 mitochondrial DNA replication GO:0006457 protein folding GO:0006469 negative regulation of protein kinase activity GO:0006915 apoptotic process GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006924 activation-induced cell death of T cells GO:0007005 mitochondrion organization GO:0007264 small GTPase mediated signal transduction GO:0007528 neuromuscular junction development GO:0007569 cell aging GO:0008285 negative regulation of cell proliferation GO:0009408 response to heat GO:0031398 positive regulation of protein ubiquitination GO:0032088 negative regulation of NF-kappaB transcription factor activity GO:0033077 T cell differentiation in thymus GO:0034341 response to interferon-gamma GO:0042102 positive regulation of T cell proliferation GO:0043065 positive regulation of apoptotic process GO:0043066 negative regulation of apoptotic process GO:0043069 negative regulation of programmed cell death GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0050790 regulation of catalytic activity GO:0050821 protein stabilization GO:0060336 negative regulation of interferon-gamma-mediated signaling pathway GO:0071340 skeletal muscle acetylcholine-gated channel clustering