EGLN1 information

EGLN1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2G19, 2G1M, 2HBT, 2HBU, 2Y33, 2Y34, 3HQR, 3HQU, 3OUH, 3OUI, 3OUJ, 4BQW, 4BQX, 4BQY, 4JZR, 4KBZ, 4UWD, 5A3U
Identifiers
Aliases	EGLN1, C1orf12, ECYT3, HIF-PH2, HIFPH2, HPH-2, HPH2, PHD2, SM20, ZMYND6, HALAH, egl-9 family hypoxia inducible factor 1
External IDs	OMIM: 606425 MGI: 1932286 HomoloGene: 56936 GeneCards: EGLN1
Gene location (Human)
Chr.	Chromosome 1 (human)
End	231,422,287 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	125,676,063 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; Achilles tendon; ; islet of Langerhans; ; body of pancreas; ; ganglionic eminence; ; smooth muscle tissue; ; left ventricle; ; tibial nerve; ; skin of abdomen; ; rectum;
	Top expressed in
	myocardium of ventricle; ; digastric muscle; ; interventricular septum; ; right ventricle; ; extraocular muscle; ; plantaris muscle; ; vastus lateralis muscle; ; triceps brachii muscle; ; extensor digitorum longus muscle; ; soleus muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	2-oxoglutarate-dependent dioxygenase activity; iron ion binding; L-ascorbic acid binding; dioxygenase activity; metal ion binding; protein binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; peptidyl-proline dioxygenase activity; enzyme binding; oxidoreductase activity; peptidyl-proline 4-dioxygenase activity; ferrous iron binding;
Cellular component	cytoplasm; nucleus; cytosol; postsynaptic density; glutamatergic synapse;
Biological process	response to hypoxia; heart trabecula formation; ventricular septum morphogenesis; labyrinthine layer development; response to nitric oxide; peptidyl-proline hydroxylation to 4-hydroxy-L-proline; cardiac muscle tissue morphogenesis; regulation of angiogenesis; negative regulation of DNA-binding transcription factor activity; regulation of transcription from RNA polymerase II promoter in response to hypoxia; negative regulation of cyclic-nucleotide phosphodiesterase activity; oxygen homeostasis; regulation of neuron death; cellular iron ion homeostasis; positive regulation of transcription by RNA polymerase II; regulation of postsynapse organization; regulation of protein catabolic process at postsynapse, modulating synaptic transmission;
	Sources:Amigo / QuickGO
Orthologs
	54583
	112405
	ENSG00000135766
	ENSMUSG00000031987
	Q9GZT9
	Q91YE3
	NM_022051; NM_001377260; NM_001377261
	NM_053207; NM_001363475
	NP_071334
	NP_444437; NP_001350404
	Wikidata
View/Edit Human	View/Edit Mouse

Hypoxia-inducible factor prolyl hydroxylase 2 (HIF-PH2), or prolyl hydroxylase domain-containing protein 2 (PHD2), is an enzyme encoded by the EGLN1 gene. It is also known as Egl nine homolog 1.^[5]^[6]^[7]^[8] PHD2 is a α-ketoglutarate/2-oxoglutarate-dependent hydroxylase, a superfamily non-haem iron-containing proteins. In humans, PHD2 is one of the three isoforms of hypoxia-inducible factor-proline dioxygenase, which is also known as HIF prolyl-hydroxylase.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000135766 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031987 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Dupuy D, Aubert I, Duperat VG, Petit J, Taine L, Stef M, Bloch B, Arveiler B (Nov 2000). "Mapping, characterization, and expression analysis of the SM-20 human homologue, c1orf12, and identification of a novel related gene, SCAND2". Genomics. 69 (3): 348–54. doi:10.1006/geno.2000.6343. PMID 11056053.
^ Taylor MS (2001). "Characterization and comparative analysis of the EGLN gene family". Gene. 275 (1): 125–32. doi:10.1016/S0378-1119(01)00633-3. PMID 11574160.
^ "Entrez Gene: EGLN1 egl nine homolog 1 (C. elegans)".
^ Berra E, Benizri E, Ginouvès A, Volmat V, Roux D, Pouysségur J (Aug 2003). "HIF prolyl-hydroxylase 2 is the key oxygen sensor setting low steady-state levels of HIF-1α in normoxia". The EMBO Journal. 22 (16): 4082–4090. doi:10.1093/emboj/cdg392. PMC 175782. PMID 12912907.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000135766 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031987 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11056053-5] Dupuy D, Aubert I, Duperat VG, Petit J, Taine L, Stef M, Bloch B, Arveiler B (Nov 2000). "Mapping, characterization, and expression analysis of the SM-20 human homologue, c1orf12, and identification of a novel related gene, SCAND2". Genomics. 69 (3): 348–54. doi:10.1006/geno.2000.6343. PMID 11056053.

[pmid11574160-6] Taylor MS (2001). "Characterization and comparative analysis of the EGLN gene family". Gene. 275 (1): 125–32. doi:10.1016/S0378-1119(01)00633-3. PMID 11574160.

[entrez-7] "Entrez Gene: EGLN1 egl nine homolog 1 (C. elegans)".

[pmid12912907-8] Berra E, Benizri E, Ginouvès A, Volmat V, Roux D, Pouysségur J (Aug 2003). "HIF prolyl-hydroxylase 2 is the key oxygen sensor setting low steady-state levels of HIF-1α in normoxia". The EMBO Journal. 22 (16): 4082–4090. doi:10.1093/emboj/cdg392. PMC 175782. PMID 12912907.

EGLN1 information

and 9 Related for: EGLN1 information

EGLN1

PHD

Hydroxyproline

Chromosome 1

Vitamin C

Organisms at high altitude

Interbreeding between archaic and modern humans

Mitali Mukerji

List of OMIM disorder codes