P3H1

Chr 1p34.2

prolyl 3-hydroxylase 1

Aliases:: GROS1, LEPRECAN, MGC117314
MANE:: ENST00000296388.10

OMIM: 610339 ↗NCBI: 64175 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

P3H1 · Q32P28

v62025-08-01

Predicted Aligned Error matrix for P3H1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.8/ 100

Confident

736 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)21%
Low(50–70)8%
Very low(< 50)7%

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
Osteogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

osteogenesis imperfecta type 8
0.75
osteogenesis imperfecta
0.63
osteogenesis imperfecta type 3
0.53
osteogenesis imperfecta, recessive
0.46
osteogenesis imperfecta type 2
0.37
skeletal dysplasia
0.37
hereditary disease
0.19
mixed connective tissue disease
0.17
long QT syndrome 12
0.12
neoplasm
0.09

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

Protein function (UniProt)

Prolyl 3-hydroxylase 1

Has prolyl 3-hydroxylase activity and catalyzes the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in pro-collagen chains, a critical step for the formation of mature collagen trimers (PubMed:39245686). May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts