P4HTM

Chr 3p21.31

prolyl 4-hydroxylase, transmembrane

Aliases:: P4H-TM, PHD4, PH4, HIFPH4, FLJ20262
MANE:: ENST00000383729.9

OMIM: 614584 ↗NCBI: 54681 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

P4HTM · Q9NXG6

v62025-08-01

Predicted Aligned Error matrix for P4HTM — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.1/ 100

Confident

502 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)21%
Low(50–70)5%
Very low(< 50)19%

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
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
0.71
anemia
0.58
anemia (phenotype)
0.55
Intellectual disability
0.54
chronic kidney disease
0.49
Global developmental delay
0.46
Hypotonia
0.46
Seizure
0.46
dysautonomia
0.37
Abnormality of the eye
0.37

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

Protein function (UniProt)

Transmembrane prolyl 4-hydroxylase

Catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. May function as a cellular oxygen sensor and, under normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von Hippel-Lindau ubiquitination complex