PLAAT5

protein-coding

phospholipase A and acyltransferase 5, the group of Phospholipase A and acyltransferase family

Gene summary

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]

Previous symbols:

HRASLS5

MANE transcript

NM_001146729.2

Inheritance

—

ClinVar variants

U:36B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr11:63,461,404-63,491,194

External References & Databases

Ensembl (ENSG00000168004)

Transcript & Mutation Effects

hg38 • Region Span ~29.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PLAAT5 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 38

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001146729.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			36 clinvar	1 clinvar		37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	2	0	38

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001146729.2	RefSeq	NP_001140201.2	6	MANE Select
ENST00000540857.6	Ensembl	ENSP00000444809.1	6	MANE Select
NM_001146728.2	RefSeq	NP_001140200.2	6	Standard
NM_054108.4	RefSeq	NP_473449.2	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of lipids
Metabolism
Glycerophospholipid biosynthesis
Phospholipid metabolism
Acyl chain remodelling of PE

Biological Process

N-acylphosphatidylethanolamine metabolic process

Molecular Function

N-acyltransferase activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000301790
Coding exons: 6
Length: 29791
Individuals with no LoFs: 125676
Homozygous LoFs: 0
Heterozygous LoFs: 72
Defined: 125748
p: 0.000286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.204	149	156	0.954	0.00000851	1774
Missense (PolyPhen)		58	59.176	0.98012		706
Synonymous	0.839	55	63.5	0.866	0.00000383	553
Loss of Function	0.695	10	12.7	0.789	6.02e-7	152

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00049	rare
Latino/Admixed American	0.00041	0.00040	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.000062	0.000062	rare
South Asian	0.0012	0.0012	notable
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: catalyzes N-acylation of phosphatidylethanolamine (PE) to generate N-Acylphosphatidylethanolamine (NAPE) a precursor of bioactive N-acylethanolamines, including the endocannabinoid anandamide. {ECO:0000269|PubMed:19000777}.;

Recessive Scores

pRec: 0.0602

Intolerance Scores

RVIS EVS: 1.48
RVIS percentile EVS: 95.32

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0351

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium