PLD1

Chr 3q26.31

phospholipase D1

MANE:: ENST00000351298.9

OMIM: 602382 ↗NCBI: 5337 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLD1 · Q13393

v62025-08-01

Predicted Aligned Error matrix for PLD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.4/ 100

Confident

1,074 residues

Confidence breakdown

Very high(≥ 90)63%
Confident(70–90)13%
Low(50–70)7%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

cardiac valvular defect, developmental
0.76
smoking initiation
0.39
congenital heart malformation
0.37
PLD1-related congenital heart disease
0.37
hereditary disease
0.34
placenta praevia
0.29
viral eye infection
0.29
placental abruption
0.26
brain cancer
0.26
cataract
0.23

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phospholipase D1

Function as phospholipase selective for phosphatidylcholine (PubMed:25936805, PubMed:8530346, PubMed:9582313). Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity)