InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: EGLN1

Summary

InnateDB Gene

IDBG-107429.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EGLN1

Gene Name

egl nine homolog 1 (C. elegans)

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000135766

Encoded Proteins

IDBP-107433

egl nine homolog 1 (C. elegans)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:231363751-231425044

Strand

Reverse strand

Band

q42.2

Transcripts

ENST00000366641	ENSP00000355601
ENST00000476717

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.

Experimentally validated
Total	41 [view]
Protein-Protein	41 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005506	iron ion binding
GO:0005515	protein binding
GO:0016491	oxidoreductase activity
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016706	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
GO:0019899	enzyme binding
GO:0031418	L-ascorbic acid binding
GO:0031543	peptidyl-proline dioxygenase activity
GO:0031545	peptidyl-proline 4-dioxygenase activity

Biological Process

GO:0001666	response to hypoxia
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline
GO:0030821	negative regulation of cAMP catabolic process
GO:0032364	oxygen homeostasis
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045765	regulation of angiogenesis
GO:0051344	negative regulation of cyclic-nucleotide phosphodiesterase activity
GO:0055008	cardiac muscle tissue morphogenesis
GO:0055114	oxidation-reduction process
GO:0060347	heart trabecula formation
GO:0060412	ventricular septum morphogenesis
GO:0060711	labyrinthine layer development
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia
GO:0071456	cellular response to hypoxia
GO:0071731	response to nitric oxide

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol

Orthologs

Species

Mus musculus

Gene ID

Gene Order

ENSMUSG00000031987

View Gene Order

Pathways

NETPATH

REACTOME

REACT_120916

Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha pathway

REACT_120956

Cellular responses to stress pathway

REACT_120815

Regulation of Hypoxia-inducible Factor (HIF) by oxygen pathway

REACT_121311

Cellular response to hypoxia pathway

KEGG

hsa05211

Renal cell carcinoma pathway

hsa05200

Pathways in cancer pathway

INOH

PID NCI

hif1_tfpathway

HIF-1-alpha transcription factor network

Cross-References

SwissProt

Q9GZT9

TrEMBL

Q9NTU9 R4SCQ0

UniProt Splice Variant

Entrez Gene

54583

UniGene

Hs.444450 Hs.709854

RefSeq

NM_022051

HUGO

HGNC:1232

OMIM

606425

CCDS

CCDS1595

HPRD

IMGT

EMBL

AF229245 AF246630 AF246631 AF277174 AF277176 AJ310543 AL117352 AL445524 AL833885 BC005369 CH471098 KC554048

GenPept

AAG33965 AAG34568 AAH05369 AAK07534 AAK07536 AGL94925 CAC42509 CAD38741 CAH72105 CAI23092 EAW69959

RNA Seq Atlas

54583