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…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in DNAJA1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 380

345 rare PASS variants

Rare truncating (LoF)

1 in 5,300

52 rare PASS variants

Rare synonymous (reference)

1 in 350

174 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DNAJA1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 430	1 in 4,500
South Asian	~43k	1 in 220	1 in 1,800
Remaining (unassigned)	~30k	1 in 620	≈ 1 in 15,000
European (Finnish)	~27k	1 in 460	≈ 1 in 27,000
Admixed American	~22k	1 in 230	≈ 1 in 11,000
African / African American	~21k	1 in 250	≈ 1 in 16,000
East Asian	~20k	1 in 310	1 in 2,600
Ashkenazi Jewish	~13k	1 in 470	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 260	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 8 coding exons well covered in gnomAD exomes and genomes.? see exons ↓