EGLN1

GENE INFORMATION

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Gene name

EGLN1 (HGNC Symbol)

Synonyms

C1orf12, HIFPH2, PHD2, SM-20, ZMYND6

Description

Egl-9 family hypoxia-inducible factor 1 (HGNC Symbol)

Entrez gene summary

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). [provided by RefSeq, Nov 2009]

Chromosome

1

Cytoband

q42.2

Chromosome location (bp)

231499497 - 231560790

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000135766 (version 75.37)

Entrez gene

54583

UniProt

Q9GZT9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9GZT9

Antibodypedia

EGLN1 antibodies
 

PROTEIN VIEW

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EGLN1-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EGLN1-001 ENSP00000355601
ENST00000366641
Q9GZT9
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