DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJA1provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member A1provided by HGNC
Primary source: HGNC:HGNC:5229
See related: Ensembl:ENSG00000086061 MIM:602837; AllianceGenome:HGNC:5229
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: DJ-2; DjA1; HDJ2; HSDJ; HSJ2; HSJ-2; HSPF4; NEDD7; hDJ-2
Summary: This gene encodes a member of the DnaJ family of proteins, which act as heat shock protein 70 cochaperones. Heat shock proteins facilitate protein folding, trafficking, prevention of aggregation, and proteolytic degradation. Members of this family are characterized by a highly conserved N-terminal J domain, a glycine/phenylalanine-rich region, four CxxCxGxG zinc finger repeats, and a C-terminal substrate-binding domain. The J domain mediates the interaction with heat shock protein 70 to recruit substrates and regulate ATP hydrolysis activity. In humans, this gene has been implicated in positive regulation of virus replication through co-option by the influenza A virus. Several pseudogenes of this gene are found on other chromosomes. [provided by RefSeq, Sep 2015]
Expression: Ubiquitous expression in testis (RPKM 94.7), brain (RPKM 86.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p21.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (33025273..33039907)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (33041834..33056468)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (33025271..33039905)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel insights into the post-translational modifications of Ydj1/DNAJA1 co-chaperones.
Title: Novel insights into the post-translational modifications of Ydj1/DNAJA1 co-chaperones.
DNAJA1 promotes proliferation and metastasis of breast cancer by activating mutant P53/NF-kappaB pathway.
Title: DNAJA1 promotes proliferation and metastasis of breast cancer by activating mutant P53/NF-κB pathway.
Leveraging the Structure of DNAJA1 to Discover Novel Potential Pancreatic Cancer Therapies.
Title: Leveraging the Structure of DNAJA1 to Discover Novel Potential Pancreatic Cancer Therapies.
High expression of DNAJA1 (HDJ2) predicts unfavorable survival outcomes in breast cancer.
Title: High expression of DNAJA1 (HDJ2) predicts unfavorable survival outcomes in breast cancer.
DNAJA1 promotes cancer metastasis through interaction with mutant p53.
Title: DNAJA1 promotes cancer metastasis through interaction with mutant p53.
Cereblon Regulates the Proteotoxicity of Tau by Tuning the Chaperone Activity of DNAJA1.
Title: Cereblon Regulates the Proteotoxicity of Tau by Tuning the Chaperone Activity of DNAJA1.
DNAJA1 Dysregulates Metabolism Promoting an Antiapoptotic Phenotype in Pancreatic Ductal Adenocarcinoma.
Title: DNAJA1 Dysregulates Metabolism Promoting an Antiapoptotic Phenotype in Pancreatic Ductal Adenocarcinoma.
Identification of a druggable protein-protein interaction site between mutant p53 and its stabilizing chaperone DNAJA1.
Title: Identification of a druggable protein-protein interaction site between mutant p53 and its stabilizing chaperone DNAJA1.
HSP4 triggers epithelial-mesenchymal transition and promotes motility capacities of hepatocellular carcinoma cells via activating AKT.
Title: HSP4 triggers epithelial-mesenchymal transition and promotes motility capacities of hepatocellular carcinoma cells via activating AKT.
Hsp40 proteins phase separate to chaperone the assembly and maintenance of membraneless organelles.
Title: Hsp40 proteins phase separate to chaperone the assembly and maintenance of membraneless organelles.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of DnaJ (Hsp40) homolog, subfamily A, member 1 (DNAJA1) by siRNA inhibits HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	The expression of HSP40A1 (DNAJA1) inhibits HIV-1 Rev expression at the posttranscriptional levels, leading to the reduction of HIV-1 RNA accumulation	PubMed
Vif	vif	HIV-1 Vif interacts with DNAJA1; interaction predicted to be relevant in protein folding and/or macromolecular structure assembly	PubMed
capsid	gag	HSP40A1 (DNAJA1) inhibits HIV-1 production as measured by the level of viral p24 capsid in the culture supernatant. The HSP40A1 (1-83) mutant lacking most of the C-terminal portion is more potent in inhibiting HIV-1 production than its wild-type	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC153017P1 (e-PCR)
- UniSTS:271247

D9S2046 (e-PCR)
- UniSTS:27063

D9S2102 (e-PCR)
- UniSTS:36344

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables C3HC4-type RING finger domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables G protein-coupled receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables Hsp70 protein binding	IDA Inferred from Direct Assay more info	PubMed
enables Tat protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables low-density lipoprotein particle receptor binding	IDA Inferred from Direct Assay 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-folding chaperone binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein-folding chaperone binding	IDA Inferred from Direct Assay more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in androgen receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in flagellated sperm motility	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of JUN kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of establishment of protein localization to mitochondrion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein folding	TAS Traceable Author Statement more info	PubMed
involved_in protein localization to mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of protein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in response to heat	IEA Inferred from Electronic Annotation more info
involved_in response to unfolded protein	TAS Traceable Author Statement more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic side of endoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dnaJ homolog subfamily A member 1

Names: DnaJ (Hsp40) homolog, subfamily A, member 1; dnaJ protein homolog 2; heat shock 40 kDa protein 4; heat shock protein J2; heat shock protein, DNAJ-like 2; human DnaJ protein 2; neural precursor cell expressed, developmentally down-regulated 7

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.

mRNA and Protein(s)

NM_001314039.2 → NP_001300968.1 dnaJ homolog subfamily A member 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region, which results in use of a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus than isoform 1.

Source sequence(s)

AK095541, AK298725, BM469197, BU508753, DA003255, DB575768

UniProtKB/TrEMBL

B7Z5C0, Q9NXZ8

Conserved Domains (1) summary

PTZ00037
Location:2 → 237

PTZ00037; DnaJ_C chaperone protein; Provisional
NM_001539.4 → NP_001530.1 dnaJ homolog subfamily A member 1 isoform 1

See identical proteins and their annotated locations for NP_001530.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK095541, BC008182, BI462555, BU508753, DB575768

Consensus CDS

CCDS6533.1

UniProtKB/Swiss-Prot

P31689, Q5T7Q0, Q86TL9

Related

ENSP00000369127.3, ENST00000330899.5

Conserved Domains (1) summary

PTZ00037
Location:2 → 394

PTZ00037; DnaJ_C chaperone protein; Provisional