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tisdag 29 juli 2025

Sinkkisormiproteiini ZMYND6 Alias EGLN1 .Kofaktorina Fe++ ja C-vitamiini. Recommended name: Egl nine homolog 1

 https://www.genecards.org/cgi-bin/carddisp.pl?gene=EGLN1&keywords=EGLN1

Aliases for EGLN1 Gene

  • GeneCards Symbol: EGLN1 2
  • Egl-9 Family Hypoxia Inducible Factor 1 2 3 5
  • PHD2 2 3 4 5
  • C1orf12 3 4 5
  • ZMYND6 2 3 5
  • HIFPH2 2 3 5
  • SM-20 2 4 5
  • Prolyl Hydroxylase Domain-Containing Protein 2 3 4
  • Hypoxia-Inducible Factor Prolyl Hydroxylase 2 3 4
  • HIF-Prolyl Hydroxylase 2 3 4
  • Egl Nine Homolog 1 3 4
  • HIF-PH2 3 4
  • HPH-2 3 4
  • Zinc Finger MYND Domain-Containing Protein 6 3
  • Egl-9 Family Hypoxia-Inducible Factor 1 2
  • Egl Nine Homolog 1 (C. Elegans) 2
  • EGL Nine (C.Elegans) Homolog 1 2
  • HIF Prolyl Hydroxylase 2 2
  • Egl Nine-Like Protein 1 3
  • EC 1.14.11.29 4
  • EC 1.14.11 47
  • ECYT3 3
  • HALAH 3
  • HPH2 3
  • SM20 3
  •  

    UniProtKB/Swiss-Prot Summary for EGLN1 Gene

    Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN1 is the most important isozyme under normoxia and, through regulating the stability of HIF1, involved in various hypoxia-influenced processes such as angiogenesis in retinal and cardiac functionality. Target proteins are preferentially recognized via a LXXLAP motif. ( EGLN1_HUMAN,Q9GZT9 )

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