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 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:4,425,868-4,456,775)mRNA (may differ from genome)Protein (480 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.08 RPKM in Adrenal Gland
Total median expression: 791.79 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -435.401243-0.350 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012724 - DnaJ
IPR002939 - DnaJ_C
IPR001623 - DnaJ_N
IPR018253 - Heat_shock_DnaJ_CS
IPR008971 - HSP40/DnaJ_pept-bd
IPR003095 - Hsp_DnaJ
IPR001305 - HSP_DnaJ_Cys-rich_dom

Pfam Domains:
PF00226 - DnaJ domain
PF01556 - DnaJ C terminal domain
PF00684 - DnaJ central domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CTT - NMR MuPIT 2DN9 - NMR MuPIT


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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005133 interferon-gamma receptor binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008134 transcription factor binding
GO:0019901 protein kinase binding
GO:0030544 Hsp70 protein binding
GO:0030695 GTPase regulator activity
GO:0031072 heat shock protein binding
GO:0046872 metal ion binding
GO:0051059 NF-kappaB binding
GO:0051082 unfolded protein binding

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

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0019897 extrinsic component of plasma membrane
GO:0030054 cell junction
GO:0031594 neuromuscular junction
GO:0042645 mitochondrial nucleoid
GO:0043231 intracellular membrane-bounded organelle
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0005884 actin filament
GO:0008385 IkappaB kinase complex
GO:0033256 I-kappaB/NF-kappaB complex


-  Descriptions from all associated GenBank mRNAs
  LF385536 - JP 2014500723-A/193039: Polycomb-Associated Non-Coding RNAs.
MA621113 - JP 2018138019-A/193039: Polycomb-Associated Non-Coding RNAs.
AF411044 - Homo sapiens DnaJ protein Tid-1 mRNA, complete cds.
AF061749 - Homo sapiens tumorous imaginal discs protein Tid56 homolog (TID1) mRNA, complete cds.
AK001333 - Homo sapiens cDNA FLJ10471 fis, clone NT2RP2000045, highly similar to DnaJ homolog subfamily A member 3, mitochondrial precursor.
BC032100 - Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3, mRNA (cDNA clone MGC:20666 IMAGE:4660602), complete cds.
BC011855 - Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3, mRNA (cDNA clone MGC:20326 IMAGE:4139881), complete cds.
BC007225 - Homo sapiens, clone IMAGE:3161441, mRNA, partial cds.
AB209923 - Homo sapiens mRNA for DnaJ (Hsp40) homolog, subfamily A, member 3 variant protein.
AF244136 - Homo sapiens hepatocellular carcinoma-associated antigen 57 (HCA57) mRNA, complete cds.
BC014062 - Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3, mRNA (cDNA clone IMAGE:3845144), partial cds.
BC012343 - Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3, mRNA (cDNA clone MGC:19942 IMAGE:4653507), complete cds.
BC030145 - Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3, mRNA (cDNA clone IMAGE:2822977), partial cds.
BC020248 - Homo sapiens, clone IMAGE:4651683, mRNA, partial cds.
AK127660 - Homo sapiens cDNA FLJ45758 fis, clone MESAN2016304.
LF338336 - JP 2014500723-A/145839: Polycomb-Associated Non-Coding RNAs.
MA573913 - JP 2018138019-A/145839: Polycomb-Associated Non-Coding RNAs.
LF210500 - JP 2014500723-A/18003: Polycomb-Associated Non-Coding RNAs.
MA446077 - JP 2018138019-A/18003: Polycomb-Associated Non-Coding RNAs.
AK223105 - Homo sapiens mRNA for DnaJ (Hsp40) homolog, subfamily A, member 3 variant, clone: KAT05088.
AK314218 - Homo sapiens cDNA, FLJ94955, highly similar to Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), mRNA.
AK295391 - Homo sapiens cDNA FLJ55843 complete cds, highly similar to DnaJ homolog subfamily A member 3, mitochondrial precursor.
CU689270 - Synthetic construct Homo sapiens gateway clone IMAGE:100021994 5' read DNAJA3 mRNA.
AB590074 - Synthetic construct DNA, clone: pFN21AB5686, Homo sapiens DNAJA3 gene for DnaJ (Hsp40) homolog, subfamily A, member 3, without stop codon, in Flexi system.
KJ897964 - Synthetic construct Homo sapiens clone ccsbBroadEn_07358 DNAJA3 gene, encodes complete protein.
KJ905985 - Synthetic construct Homo sapiens clone ccsbBroadEn_15655 DNAJA3 gene, encodes complete protein.
LF338328 - JP 2014500723-A/145831: Polycomb-Associated Non-Coding RNAs.
MA573905 - JP 2018138019-A/145831: Polycomb-Associated Non-Coding RNAs.
LF338329 - JP 2014500723-A/145832: Polycomb-Associated Non-Coding RNAs.
MA573906 - JP 2018138019-A/145832: Polycomb-Associated Non-Coding RNAs.
CU680292 - Synthetic construct Homo sapiens gateway clone IMAGE:100020650 5' read DNAJA3 mRNA.
KJ905984 - Synthetic construct Homo sapiens clone ccsbBroadEn_15654 DNAJA3 gene, encodes complete protein.
LF338330 - JP 2014500723-A/145833: Polycomb-Associated Non-Coding RNAs.
MA573907 - JP 2018138019-A/145833: Polycomb-Associated Non-Coding RNAs.
LF338331 - JP 2014500723-A/145834: Polycomb-Associated Non-Coding RNAs.
MA573908 - JP 2018138019-A/145834: Polycomb-Associated Non-Coding RNAs.
LF338332 - JP 2014500723-A/145835: Polycomb-Associated Non-Coding RNAs.
MA573909 - JP 2018138019-A/145835: Polycomb-Associated Non-Coding RNAs.
LF338333 - JP 2014500723-A/145836: Polycomb-Associated Non-Coding RNAs.
MA573910 - JP 2018138019-A/145836: Polycomb-Associated Non-Coding RNAs.
LF338334 - JP 2014500723-A/145837: Polycomb-Associated Non-Coding RNAs.
MA573911 - JP 2018138019-A/145837: Polycomb-Associated Non-Coding RNAs.
LF338335 - JP 2014500723-A/145838: Polycomb-Associated Non-Coding RNAs.
MA573912 - JP 2018138019-A/145838: Polycomb-Associated Non-Coding RNAs.
JD328188 - Sequence 309212 from Patent EP1572962.
JD367916 - Sequence 348940 from Patent EP1572962.
JD370466 - Sequence 351490 from Patent EP1572962.
JD481095 - Sequence 462119 from Patent EP1572962.
JD039996 - Sequence 21020 from Patent EP1572962.
JD370389 - Sequence 351413 from Patent EP1572962.
JD438118 - Sequence 419142 from Patent EP1572962.
JD410954 - Sequence 391978 from Patent EP1572962.
JD537192 - Sequence 518216 from Patent EP1572962.
JD187917 - Sequence 168941 from Patent EP1572962.
JD355244 - Sequence 336268 from Patent EP1572962.
JD189150 - Sequence 170174 from Patent EP1572962.
JD134904 - Sequence 115928 from Patent EP1572962.
JD559150 - Sequence 540174 from Patent EP1572962.
JD079218 - Sequence 60242 from Patent EP1572962.
JD309484 - Sequence 290508 from Patent EP1572962.
JD530534 - Sequence 511558 from Patent EP1572962.
JD495770 - Sequence 476794 from Patent EP1572962.
JD176882 - Sequence 157906 from Patent EP1572962.
JD389233 - Sequence 370257 from Patent EP1572962.
JD090720 - Sequence 71744 from Patent EP1572962.
JD316392 - Sequence 297416 from Patent EP1572962.
JD094861 - Sequence 75885 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_tidPathway - Chaperones modulate interferon Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAJ5, DNJA3_HUMAN, ENST00000262375.1, ENST00000262375.10, ENST00000262375.2, ENST00000262375.3, ENST00000262375.4, ENST00000262375.5, ENST00000262375.6, ENST00000262375.7, ENST00000262375.8, ENST00000262375.9, HCA57, NM_005147, O75472, Q8WUJ6, Q8WXJ3, Q96D76, Q96EY1, Q96IV1, Q9NYH8, TID1, uc002cwk.1, uc002cwk.2, uc002cwk.3, uc002cwk.4, uc002cwk.5
UCSC ID: ENST00000262375.11
RefSeq Accession: NM_005147
Protein: Q96EY1 (aka DNJA3_HUMAN or DJA3_HUMAN)
CCDS: CCDS10515.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.