EGLN1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0018401Biological processpeptidyl-proline hydroxylation to 4-hydroxy-L-proline
GO_0060347Biological processheart trabecula formation
GO_0051344Biological processnegative regulation of cyclic-nucleotide phosphodiesterase activity
GO_0140252Biological processregulation protein catabolic process at postsynapse
GO_0043433Biological processnegative regulation of DNA-binding transcription factor activity
GO_0045765Biological processregulation of angiogenesis
GO_0055008Biological processcardiac muscle tissue morphogenesis
GO_0060711Biological processlabyrinthine layer development
GO_0006879Biological processintracellular iron ion homeostasis
GO_0001666Biological processresponse to hypoxia
GO_0060412Biological processventricular septum morphogenesis
GO_0071731Biological processresponse to nitric oxide
GO_0032364Biological processintracellular oxygen homeostasis
GO_0099159Biological processregulation of modification of postsynaptic structure
GO_0071456Biological processcellular response to hypoxia
GO_0045944Biological processpositive regulation of transcription by RNA polymerase II
GO_0098978Cellular componentglutamatergic synapse
GO_0005829Cellular componentcytosol
GO_0014069Cellular componentpostsynaptic density
GO_0005737Cellular componentcytoplasm
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0005634Cellular componentnucleus
GO_0019899Molecular functionenzyme binding
GO_0031418Molecular functionL-ascorbic acid binding
GO_0160082Molecular functionhypoxia-inducible factor-proline dioxygenase activity
GO_0016706Molecular function2-oxoglutarate-dependent dioxygenase activity
GO_0008198Molecular functionferrous iron binding
GO_0031543Molecular functionpeptidyl-proline dioxygenase activity
GO_0005515Molecular functionprotein binding
GO_0031545Molecular functionpeptidyl-proline 4-dioxygenase activity

IV. Literature review

[source]
Gene nameEGLN1
Protein nameEgl-9 family hypoxia inducible factor 1
Egl nine homolog 1 (EC 1.14.11.29) (Hypoxia-inducible factor prolyl hydroxylase 2) (HIF-PH2) (HIF-prolyl hydroxylase 2) (HPH-2) (Prolyl hydroxylase domain-containing protein 2) (PHD2) (SM-20)
hypoxia-inducible factor-proline dioxygenase (EC 1.14.11.29)
SynonymsC1orf12
PNAS-118
hCG_1810777
PNAS-137
DescriptionFUNCTION: 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. .

AccessionsR4S1C5
R4SCQ0
A0A590UJ78
R4SCC4
A6XP74
ENST00000667629.1
A0A590UJT7
ENST00000366641.4 [Q9GZT9-1]
ENST00000670301.1
A0A590UJZ0
ENST00000658954.1
A0A590UJD6
R4RYZ7
R4SCF3
Q9GZT9
I6QYW0
ENST00000654803.1
R4RZ18
R4SCP5
R4RYY7