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Details on Person UniProt:Q9NXG6 P4HTM
| Class:Id | ReferenceGeneProduct:89758 |
|---|---|
| _chainChangeLog | chain:1-502 added on Fri February 6 2015 |
| _displayName | UniProt:Q9NXG6 P4HTM |
| _timestamp | 2026-02-20 23:09:00 |
| chain | chain:1-502 |
| checksum | A2DAE4ACF4A2E18C |
| comment | 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.CATALYTIC ACTIVITY L-prolyl-[hypoxia-inducible factor alpha subunit] + 2-oxoglutarate + O2 = trans-4-hydroxy-L-prolyl-[hypoxia-inducible factor alpha subunit] + succinate + CO2COFACTOR Binds 1 Fe(2+) ion per subunit.COFACTOR Homodimer.INTERACTION 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.INDUCTION By hypoxia in many cultured cell lines.PTM Glycosylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.SEQUENCE CAUTION Intron retention.SEQUENCE CAUTION Intron retention. |
| description | recommendedName: Transmembrane prolyl 4-hydroxylase shortName: P4H-TM ecNumber evidence="7"1.14.11.29 alternativeName: Hypoxia-inducible factor prolyl hydroxylase 4 shortName: HIF-PH4 shortName: HIF-prolyl hydroxylase 4 shortName: HPH-4 |
| geneName | P4HTM PH4 |
| identifier | Q9NXG6 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Calcium Dioxygenase Disease variant Endoplasmic reticulum Epilepsy Glycoprotein Intellectual disability Iron Membrane Metal-binding Oxidoreductase Proteomics identification Reference proteome Repeat Signal-anchor Transmembrane Transmembrane helix Vitamin C |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9983091] Weiser, Joel, 2026-02-20 |
| name | P4HTM |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8962279] ENSEMBL:ENSG00000178467 P4HTM [Homo sapiens] |
| secondaryIdentifier | P4HTM_HUMAN Q6PAG6 Q8TCJ9 Q8WV55 Q96F22 Q9BW77 |
| sequenceLength | 502 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:146801] UniProt:Q9NXG6-2 P4HTM [Homo sapiens] [ReferenceIsoform:146802] UniProt:Q9NXG6-3 P4HTM [Homo sapiens] [ReferenceIsoform:414881] UniProt:Q9NXG6-1 P4HTM [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:2980963] P4HTM [endoplasmic reticulum membrane] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q9NXG6 P4HTM (89758)
