Aliases for P4HTM Gene
External Ids for P4HTM Gene
Previous GeneCards Identifiers for P4HTM Gene
The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for P4HTM Gene
P4HTM (Prolyl 4-Hydroxylase, Transmembrane (Endoplasmic Reticulum)) is a Protein Coding gene. Diseases associated with P4HTM include hypoxia and farber lipogranulomatosis. GO annotations related to this gene include calcium ion binding and iron ion binding.
UniProtKB/Swiss-Prot for P4HTM Gene
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.