HIF Prolyl Hydroxylases

Function

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.

Involvement in disease

Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities

HIDEA

An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties. Disease onset is in infancy and death due to respiratory insufficiency may occur.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Glycosylated.

Tissue specificity

Widely expressed with highest levels in adult pancreas, heart, skeletal muscle, brain, placenta, kidney and adrenal gland. Expressed at lower levels in epiphyseal cartilage and in fibroblasts.

Cellular localization

• Endoplasmic reticulum membrane
• Single-pass type II membrane protein

Alternative names

• Transmembrane prolyl 4-hydroxylase
• P4H-TM
• Hypoxia-inducible factor prolyl hydroxylase 4
• HIF-PH4
• HIF-prolyl hydroxylase 4
• HPH-4
• PH4
• P4HTM

Database links

• entrezGene:54681
• swissprot:Q9NXG6

Target type

Proteins

Molecular weight

56661Da