PLS1

Chr 3q23

plastin 1

MANE:: ENST00000457734.7

OMIM: 602734 ↗NCBI: 5357 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLS1 · Q14651

v62025-08-01

Predicted Aligned Error matrix for PLS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.3/ 100

Confident

629 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)22%
Low(50–70)6%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

hearing loss, autosomal dominant 76
0.70
autosomal dominant nonsyndromic hearing loss
0.55
neurodegenerative disease
0.37
alcohol drinking
0.26
Sensorineural hearing impairment
0.26
arterial embolism
0.20
hereditary disease
0.19
placenta praevia
0.19
Hearing impairment
0.15
colorectal carcinoma
0.08

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

Protein function (UniProt)

Plastin-1

Actin-bundling protein. In the inner ear, it is required for stereocilia formation. Mediates liquid packing of actin filaments that is necessary for stereocilia to grow to their proper dimensions