QuickView for EGLN1 (gene)

Gene Symbol:

EGLN1 Homo sapiens

Full name:

egl-9 family hypoxia inducible factor 1

Synonyms:

C1orf12, ECYT3, HALAH, HIF-PH2, HIFPH2, HPH-2, HPH2, PHD2, SM20, ZMYND6, egl nine homolog 1, HIF-prolyl hydroxylase 2, egl nine-like protein 1, hypoxia-inducible factor prolyl hydroxylase 2, prolyl hydroxylase domain-containing protein 2, zinc finger MYND domain-containing protein 6

Genomic Location:

Chr 1: 229568054-229627413

Description:

The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by proly...

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The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

E12_Q6 ,  RTAAACA_FREAC2_01 ,  GATA1_03 ,  MYOD_01 ,  GCANCTGNY_MYOD_Q6 ,  CATTTCA_MIR203 ,  CAGGTG_E12_Q6 ,  E47_02 ,  NKX25_02 ,  FREAC2_01 ,  CAGTATT_MIR200B_MIR200C_MIR429 ,  TTANWNANTGGM_UNKNOWN ,  TCATCTC_MIR143

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-143 ,  Predicted Gene Targets for miR-200b ,  Predicted Gene Targets for miR-203 ,  Predicted Gene Targets for miR-488

Cytogenetic Map:

1q42.2

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