PFN1

Chr 17p13.2

profilin 1

MANE:: ENST00000225655.6

OMIM: 176610 ↗NCBI: 5216 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PFN1 · P07737

v62025-08-01

Predicted Aligned Error matrix for PFN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.6/ 100

Very high

140 residues

Confidence breakdown

Very high(≥ 90)94%
Confident(70–90)5%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Amyotrophic lateral sclerosis/motor neuron disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

amyotrophic lateral sclerosis type 18
0.74
amyotrophic lateral sclerosis
0.61
neurodegenerative disease
0.49
autoimmune disorder of central nervous system
0.37
Neurodegeneration
0.27
Lower limb muscle weakness
0.26
bone Paget disease
0.23
hereditary disease
0.18
breast cancer
0.11
breast carcinoma
0.11

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

Protein function (UniProt)

Profilin-1

Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR