• Gene id: 54583

Gene Summary

• Gene Symbol: EGLN1   Gene   UCSC   Ensembl
• Aliases: C1orf12, ECYT3, HALAH, HIF-PH2, HIFPH2, HPH-2, HPH2, PHD2, SM20, ZMYND6
• Gene name: egl-9 family hypoxia inducible factor 1
• Alternate names: 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,
• Gene location: 1q42.2 (231422331: 231363755)     Exons: 5     NC_000001.11
• Gene summary(Entrez): 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 func
• OMIM: 606425

Protein Summary

• Protein general information: Q9GZT9  
  • Name: 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)
  • Length: 426  
  • Mass: 46021
  • Tissue specificity: According to PubMed
• Sequence:

  MANDSGGPGGPSPSERDRQYCELCGKMENLLRCSRCRSSFYCCKEHQRQDWKKHKLVCQGSEGALGHGVGPHQHS
  GPAPPAAVPPPRAGAREPRKAAARRDNASGDAAKGKVKAKPPADPAAAASPCRAAAGGQGSAVAAEAEPGKEEPP
  ARSSLFQEKANLYPPSNTPGDALSPGGGLRPNGQTKPLPALKLALEYIVPCMNKHGICVVDDFLGKETGQQIGDE
  VRALHDTGKFTDGQLVSQKSDSSKDIRGDKITWIEGKEPGCETIGLLMSSMDDLIRHCNGKLGSYKINGRTKAMV
  ACYPGNGTGYVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHE
  VQPAYATRYAITVWYFDADERARAKVKYLTGEKGVRVELNKPSDSVGKDVF

• Structural information:
  • Protein Domains: (291..39-)
    (/note="Fe2OG-dioxygenase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00805"-)
  • Interpro: IPR005123  IPR006620  IPR002893  
  • Prosite: PS51471 PS01360 PS50865
  • PDB: 2G19 2G1M 2HBT 2HBU 2Y33 2Y34 3HQR 3HQU 3OUH 3OUI 3OUJ 4BQW 4BQX 4BQY 4JZR 4KBZ 4UWD 5A3U 5L9B 5L9R 5L9V 5LA9 5LAS 5LAT 5LB6 5LBB 5LBC 5LBE 5LBF 5OX5 5OX6 5V18 6NMQ 6ST3
  • PDBsum: 2G19 2G1M 2HBT 2HBU 2Y33 2Y34 3HQR 3HQU 3OUH 3OUI 3OUJ 4BQW 4BQX 4BQY 4JZR 4KBZ 4UWD 5A3U 5L9B 5L9R 5L9V 5LA9 5LAS 5LAT 5LB6 5LBB 5LBC 5LBE 5LBF 5OX5 5OX6 5V18 6NMQ 6ST3
  • DIP: 37495
  • STRING: ENSP00000355601
• Other Databases: GeneCards:  EGLN1  Malacards:  EGLN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0031543	peptidyl-proline dioxygenase activity	TAS	molecular function
GO:0032364	oxygen homeostasis	IDA	biological process
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IBA	biological process
GO:0031545	peptidyl-proline 4-dioxygenase activity	IBA	molecular function
GO:0071456	cellular response to hypoxia	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0008198	ferrous iron binding	IBA	molecular function
GO:0031543	peptidyl-proline dioxygenase activity	IBA	molecular function
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0071731	response to nitric oxide	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045765	regulation of angiogenesis	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IDA	molecular function
GO:0031545	peptidyl-proline 4-dioxygenase activity	IDA	molecular function
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA	biological process
GO:0031545	peptidyl-proline 4-dioxygenase activity	EXP	molecular function
GO:0031545	peptidyl-proline 4-dioxygenase activity	EXP	molecular function
GO:0031545	peptidyl-proline 4-dioxygenase activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0099576	regulation of protein catabolic process at postsynapse, modulating synaptic transmission	IEA	biological process
GO:0099175	regulation of postsynapse organization	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0055008	cardiac muscle tissue morphogenesis	IEA	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:1901214	regulation of neuron death	IEA	biological process
GO:0060711	labyrinthine layer development	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0060347	heart trabecula formation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045765	regulation of angiogenesis	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0019899	enzyme binding	ISS	molecular function
GO:0051344	negative regulation of cyclic-nucleotide phosphodiesterase activity	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04066	HIF-1 signaling pathway
hsa05211	Renal cell carcinoma

Diseases

Associated diseases	References
Congenital polycythemia	KEGG:H00236
Congenital polycythemia	KEGG:H00236
renal cell carcinoma	PMID:20978146
Polycythemia	PMID:23859443
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R