SERPINF1

Chr 17p13.3

serpin family F member 1

Aliases:: EPC-1, PIG35
MANE:: ENST00000254722.9

OMIM: 172860 ↗NCBI: 5176 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SERPINF1 · P36955

v62025-08-01

Predicted Aligned Error matrix for SERPINF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.1/ 100

Very high

418 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)5%
Low(50–70)3%
Very low(< 50)9%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

osteogenesis imperfecta
0.72
osteogenesis imperfecta, recessive
0.46
osteogenesis imperfecta type 3
0.45
osteogenesis imperfecta type 4
0.37
neurodegenerative disease
0.33
Abnormality of the skeletal system
0.27
breast cancer
0.26
Alzheimer disease
0.25
breast neoplasm
0.24
hereditary disease
0.19

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

Protein function (UniProt)

Pigment epithelium-derived factor

Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity