PLAAT5

Chr 11

phospholipase A and acyltransferase 5

Also known as: HRASLS5, HRLP5, HRSL5, PLAAT-5, RLP1, iNAT

NCBI Gene: 117245 ENSG00000168004 UniProt: Q96KN8

The protein exhibits both phospholipase A1/A2 activities that release fatty acids from glycerophospholipids and N-acyltransferase activity that synthesizes N-acylphosphatidylethanolamine, a precursor for bioactive lipid mediators. Mutations cause autosomal recessive spastic paraplegia-102, characterized by progressive spasticity and weakness of the lower limbs. The gene shows high tolerance to loss-of-function variants, suggesting that complete loss of protein function may be required for disease manifestation.

ResearchSummary from RefSeq, UniProt

Enables A2-type glycerophospholipase activity; N-acyltransferase activity; and glycerophospholipid phospholipase A1 activity. Acts upstream of or within N-acylphosphatidylethanolamine metabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in PLAAT5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 86

402 rare PASS variants

Rare truncating (LoF)

1 in 1,400

69 rare PASS variants

Rare synonymous (reference)

1 in 610

127 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PLAAT5. 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 140	1 in 2,300
South Asian	~43k	1 in 88	1 in 360
Remaining (unassigned)	~30k	1 in 83	1 in 910
European (Finnish)	~27k	1 in 290	1 in 5,200
Admixed American	~22k	1 in 150	1 in 970
African / African American	~21k	1 in 140	1 in 640
East Asian	~20k	1 in 240	≈ 1 in 6,600
Ashkenazi Jewish	~13k	1 in 590	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 110	≈ 1 in 2,900

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.