DNAJA1

Chr 9

DnaJ heat shock protein family (Hsp40) member A1

Also known as: DJ-2, DjA1, HDJ2, HSDJ, HSJ-2, HSJ2, HSPF4, NEDD7

NCBI Gene: 3301 ENSG00000086061 UniProt: P31689 OMIM: 602837

DNAJA1 encodes a heat shock protein 70 co-chaperone that stimulates ATP hydrolysis and facilitates protein transport into mitochondria while regulating cellular apoptosis pathways. Mutations cause autosomal recessive spinal muscular atrophy with progressive myoclonic epilepsy, a neurodegenerative disorder affecting both motor neurons and the central nervous system. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.542), suggesting some tolerance to heterozygous loss.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.54

LOEUF

Mechanism· predicted