DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJA3provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member A3provided by HGNC
Primary source: HGNC:HGNC:11808
See related: Ensembl:ENSG00000103423 MIM:608382; AllianceGenome:HGNC:11808
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TID1; HCA57; Tid1-L; Tid1-S; hTID-1
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 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]
Expression: Ubiquitous expression in adrenal (RPKM 19.3), kidney (RPKM 17.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (4425868..4456775)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (4455068..4485978)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (4475869..4506776)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural resemblance of the DNAJA-family protein, Tid1, to the DNAJB-family Hsp40.
Title: Structural resemblance of the DNAJA-family protein, Tid1, to the DNAJB-family Hsp40.
Mitochondrial ""dysmorphology"" in variant classification.
Title: Mitochondrial "dysmorphology" in variant classification.
Tid1-S attenuates LPS-induced cardiac hypertrophy and apoptosis through ER-a mediated modulation of p-PI3K/p-Akt signaling cascade.
Title: Tid1-S attenuates LPS-induced cardiac hypertrophy and apoptosis through ER-a mediated modulation of p-PI3K/p-Akt signaling cascade.
identified HSPA1A and HSPA8 as the HSP70 family proteins that physically interact with DNAJA3, and established their requirement for the phosphorylation of NF-kappaB p65
Title: HSP70/DNAJA3 chaperone/cochaperone regulates NF-κB activity in immune responses.
A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy.
Title: A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy.
Herein, the authors first revealed that Galectin-7 was one of the Tid1-interacting client proteins. An inverse association of protein expression profile between Tid1 and Galectin-7 was determined in head and neck squamous cell carcinoma patients. Low Tid1 and high Galectin-7 expression predicted poor overall survival in head and neck squamous cell carcinoma.
Title: HSP40 co-chaperone protein Tid1 suppresses metastasis of head and neck cancer by inhibiting Galectin-7-TCF3-MMP9 axis signaling.
Impaired stoichiometry between mtHsp40 and mtHsp70 promotes Opa1L cleavage, leading to cristae opening, decreased OXPHOS, and triggering of mitochondrial fragmentation after reduction in their chaperone function.
Title: Stoichiometric expression of mtHsp40 and mtHsp70 modulates mitochondrial morphology and cristae structure via Opa1L cleavage.
The Role of the Phylogenetically Conserved Cochaperone Protein Droj2/DNAJA3 in NF-kappaB Signaling.
Title: The Role of the Phylogenetically Conserved Cochaperone Protein Droj2/DNAJA3 in NF-κB Signaling.
Tid1 increases autophagic flux by interacting with the Beclin 1-containing autophagy protein complex.
Title: Tid1, the Mammalian Homologue of Drosophila Tumor Suppressor Tid56, Mediates Macroautophagy by Interacting with Beclin1-containing Autophagy Protein Complex.
TID1 prevents complex I aggregation and support the existence of a TID1-mediated stress response to ATP synthase inhibition
Title: Essential role of TID1 in maintaining mitochondrial membrane potential homogeneity and mitochondrial DNA integrity.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Bda26e12 (e-PCR)
- UniSTS:72730

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-61069 (e-PCR)
- UniSTS:18255

1908 (e-PCR)
- UniSTS:18256

SHGC-60607 (e-PCR)
- UniSTS:45648

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables GTPase regulator activity	IEA Inferred from Electronic Annotation more info
enables Hsp70 protein binding	IEA Inferred from Electronic Annotation more info
enables IkappaB kinase complex binding	IDA Inferred from Direct Assay more info	PubMed
enables NF-kappaB binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables type II interferon receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables unfolded protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in activation-induced cell death of T cells	IEA Inferred from Electronic Annotation more info
involved_in cellular senescence	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial DNA replication	IEA Inferred from Electronic Annotation more info
involved_in mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of type II interferon-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in neuromuscular junction development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in response to heat	IEA Inferred from Electronic Annotation more info
involved_in response to type II interferon	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal muscle acetylcholine-gated channel clustering	ISS Inferred from Sequence or Structural Similarity more info
involved_in small GTPase-mediated signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
colocalizes_with actin filament	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: dnaJ homolog subfamily A member 3, mitochondrial

Names: DnaJ (Hsp40) homolog, subfamily A, member 3; dnaJ protein Tid-1; hepatocellular carcinoma-associated antigen 57; tumorous imaginal discs protein Tid56 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029866.1 RefSeqGene

Range

5064..35971

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135110.3 → NP_001128582.1 dnaJ homolog subfamily A member 3, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_001128582.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2, also known as TID1S) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK001333, BC020248, DA172592

Consensus CDS

CCDS45400.1

UniProtKB/TrEMBL

B3KM81

Related

ENSP00000347445.4, ENST00000355296.8

Conserved Domains (4) summary

cd10719
Location:236 → 296

DnaJ_zf; Zinc finger domain of DnaJ and HSP40

cd10747
Location:207 → 416

DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

COG0484
Location:90 → 435

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

pfam00226
Location:93 → 155

DnaJ; DnaJ domain
NM_001286516.2 → NP_001273445.1 dnaJ homolog subfamily A member 3, mitochondrial isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks a segment in the 5' end and an alternate exon in the 3' end compared to variant 1. The resulting isoform (3) has shorter and distinct N- and C-termini compared to isoform 1.

Source sequence(s)

AC012676, AK001333, AK295391, BC011855, BX445320

Consensus CDS

CCDS66930.1

UniProtKB/Swiss-Prot

Q96EY1

UniProtKB/TrEMBL

B3KM81

Related

ENSP00000393970.2, ENST00000431375.6

Conserved Domains (3) summary

cd10719
Location:83 → 143

DnaJ_zf; Zinc finger domain of DnaJ and HSP40

cd10747
Location:54 → 263

DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

COG0484
Location:37 → 282

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_005147.6 → NP_005138.3 dnaJ homolog subfamily A member 3, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_005138.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as TID1L).

Source sequence(s)

AB209923, AK223105, BC011855

Consensus CDS

CCDS10515.1

UniProtKB/Swiss-Prot

B2RAJ5, B4DI33, E7ES32, O75472, Q8WUJ6, Q8WXJ3, Q96D76, Q96EY1, Q96IV1, Q9NYH8

UniProtKB/TrEMBL

Q53G26, Q59E88

Related

ENSP00000262375.4, ENST00000262375.11

Conserved Domains (4) summary

cd10719
Location:236 → 296

DnaJ_zf; Zinc finger domain of DnaJ and HSP40

cd10747
Location:207 → 416

DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

COG0484
Location:90 → 480

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

pfam00226
Location:93 → 155

DnaJ; DnaJ domain