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Details on Person UniProt:Q9NXG6-3 P4HTM

Class:IdReferenceIsoform:146802
_chainChangeLogchain:1-502 added on Fri February 6 2015
_displayNameUniProt:Q9NXG6-3 P4HTM
_timestamp2026-02-20 23:09:00
chainchain:1-502
checksumA2DAE4ACF4A2E18C
commentFUNCTION 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.
descriptionrecommendedName: 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
geneNameP4HTM
PH4
identifierQ9NXG6
isoformParent
isSequenceChangedFALSE
keyword3D-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
nameP4HTM
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8962279] ENSEMBL:ENSG00000178467 P4HTM [Homo sapiens]
secondaryIdentifierP4HTM_HUMAN
Q6PAG6
Q8TCJ9
Q8WV55
Q96F22
Q9BW77
sequenceLength502
species[Species:48887] Homo sapiens
variantIdentifierQ9NXG6-3
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