Egln1 - egl-9 family hypoxia-inducible factor 1 Gene

Also known as PHD2; HPH-2; PHD-2; HIF-PH2

About Egln1

Summary

This gene encodes a component of a transcriptional complex that plays a central role in mammalian oxygen homeostasis. Hypoxia reduces the activity of prolyl hyxroxylases that hydroxylate specific proline residues of the hypoxia-inducible factor-1a (Hif1a). In the absence of hydroxylation, the Hif1a transcription factor accumulates and activates transcription of hypoxia-responsive target genes. This gene encodes one of the three known Hif-interacting 2-oxoglutarate/iron-dependent prolyl-hydroxylases (HIF-PHDs) in rat. Targeted disruption of this gene in mice produced embryonic lethality between embryonic day 12.5 and day 14.5. Based on the transcript data currently available for rat, this Reference Sequence is believed to contain the complete coding region for this gene. However, when compared to its mouse and human orthologs, it has a shorter 5' coding region and an incomplete N-terminus zf-MYND domain. This locus currently has limited transcript data and aligns to an unfinished region of the rat reference genome assembly. It is therefore uncertain whether its coding region can be extended at the 5' end to encode a complete zf-MYND domain, whether no further changes need to be made to its coding region, or whether it is a transcribed pseudogene that does not encode a functional protein. As more transcript and experimental data become available, the coding status of this locus may change. [provided by RefSeq, Jul 2008]