EGLN1 - egl-9 family hypoxia inducible factor 1 Gene

Also Known as HPH2; PHD2; SM20; ECYT3; HALAH; HPH-2; HIFPH2; ZMYND6; C1orf12; HIF-PH2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54583

About EGLN1

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:231,363,756-231,422,287 (from NCBI)

This gene has 7 transcripts (splice variants), 220 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 11.5), brain (RPKM 11.3) and 25 other tissues.

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]

EGLN1 Products (3)

mRNA	Protein	Name
NM_001377260.1	NP_001364189.1	egl nine homolog 1 isoform 2
NM_001377261.1	NP_001364190.1	egl nine homolog 1 isoform 3
NM_022051.3	NP_071334.1	egl nine homolog 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables 2-oxoglutarate-dependent dioxygenase activity	IDA IDA: Inferred from direct assay	22955912	GOA
enables ferrous iron binding	IDA IDA: Inferred from direct assay	28594552	GOA
enables hypoxia-inducible factor-proline dioxygenase activity	IDA IDA: Inferred from direct assay	11598268	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15721254	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in intracellular oxygen homeostasis	IDA IDA: Inferred from direct assay	16956324	GOA
involved in negative regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	16956324	GOA
involved in response to hypoxia	IDA IDA: Inferred from direct assay	16956324	GOA
involved in response to nitric oxide	IDA IDA: Inferred from direct assay	21601578	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	12615973	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EGLN1 Protein Structure

zf-MYND

2OG-FeII_Oxy_3

0
100
200
300
400
426 a.a.

Protein Preferred Names	Protein Names
egl nine homolog 1	HIF-prolyl hydroxylase 2

EGLN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	EGLN1	Q9GZT9	HIF1A	Homo sapiens	Q16665	Experimental Interac	15474027
Intra	EGLN1	Q9GZT9	HIF1A	Homo sapiens	Q16665	Anti Tag CoIP	16511565
Intra	EGLN1	Q9GZT9	HIF1A	Homo sapiens	Q16665	Pull Down	17353276
Intra	EGLN1	Q9GZT9	HIF1A	Homo sapiens	Q16665	Enzymatic Study	20840591
Intra	EGLN1	Q9GZT9	EPAS1	Homo sapiens	Q99814	Gal4 VP16 Complement	17353276
Intra	EGLN1	Q9GZT9	EPAS1	Homo sapiens	Q99814	Pull Down	17353276
Intra	EGLN1	Q9GZT9	FKBP8	Homo sapiens	Q14318	Anti Tag CoIP	17353276

Cross: Cross-species interaction Intra: Intraspecies interaction

EGLN1 Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P82686	PHD2 Antibody (YA2431)	WB, IP	Human

Related Diseases

Diseases	Alias
Erythrocytosis, Familial, 3	ECYT3 Familial Erythrocytosis 3 Erythrocytosis, Familial, Type 3
Hemoglobin, High Altitude Adaptation	HALAH Hemoglobin, High Oxygen Saturation Of
Autosomal Dominant Secondary Polycythemia	Autosomal Dominant Secondary Erythrocytosis
Primary Polycythemia	Familial Erythrocytosis Familiar Polycythemia Benign Familial Polycythemia Congenital Erythrocytosis Familial Polycythemia Hereditary Erythrocytosis Primary Familial Polycythemia Erythrocytosis, Familial Polycythemia Vera Primary Familial Polycythaemia Primary Inherited Polycythaemia
Erythrocytosis, Familial, 2	Chuvash Polycythemia ECYT2 Familial Erythrocytosis 2 Autosomal Recessive Benign Erythrocytosis Polycythemia, Vhl-Dependent Chuvash Erythromatosis Chuvash Type Polycythemia Chuvash Erythrocytosis Von Hippel-Lindau-Dependent Polycythemia Polycythemia Chuvash Type Vhl-Dependent Polycythemia Erythrocytosis, Familial, Type 2
Erythrocytosis, Familial, 4	ECYT4 Familial Erythrocytosis 4 Erythrocytosis, Familial, Type 4
Polycythemia	Erythrocythemia Polycythemia Vera Polycythaemia Due To High Altitude
Erythrocytosis, Familial, 5	ECYT5 Familial Erythrocytosis 5
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Erythrocytosis, Familial, 8	Diphosphoglycerate Mutase Deficiency Of Erythrocyte ECYT8 Bisphosphoglycerate Mutase Deficiency Bisphosphoglyceromutase Deficiency Bpgm Deficiency Dpgm Deficiency Deficiency Of Bisphosphoglycerate Mutase Familial Erythrocytosis 8 Hemolytic Anemia Due To Diphosphoglycerate Mutase Deficiency Erythrocytosis Due To Bisphosphoglycerate Mutase Deficiency Erythrocytosis, Familial, Type 8
Pulmonary Edema
Erythrocytosis, Familial, 1	ECYT1 Pfcp Primary Familial And Congenital Polycythemia Familial Erythrocytosis 1 Familial Erythrocytosis Polycythemia, Primary Familial And Congenital Autosomal Dominant Benign Erythrocytosis Familial Erythrocytosis Type 1 Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation Congenital Polycythemia Due To Erythropoietin Receptor Mutation Primary Congenital Erythrocytosis Primary Familial Polycythemia Erythrocytosis, Autosomal Dominant Benign Erythrocytosis, Somatic Autosomal Dominant Familial Erythrocytosis-1 Erythrocytosis Autosomal Dominant Benign Familial Primary Polycythemia Familial Erythrocytosis, 1 Erythrocytosis, Familial, Type 1
Acquired Polycythemia	Secondary Polycythemia Polycythemia, Secondary Secondary Erythrocytosis Polycythemia Secondary
Erythrocytosis, Familial, 6	ECYT6 Erythrocytosis 6 Familial Erythrocytosis 6 Erythrocytosis, Beta-Globin Type Polycythemia, Beta-Globin Type Beta-Globin Type Erythrocytosis Beta-Globin Type Polycythemia
Persistent Generalized Lymphadenopathy	Pgl Persistant Generalized Lymphadenopathy
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Duodenal Somatostatinoma	Duodenal Delta Cell Somatostatin Producing Tumor Duodenal Somatostatin-Producing Neuroendocrine Tumor
Paraganglioma And Gastric Stromal Sarcoma	Carney-Stratakis Syndrome Paraganglioma And Gastrointestinal Stromal Tumor Carney Dyad Carney-Stratakis Dyad Of Paraganglioma And Gastric Stromal Sarcoma Paraganglioma And Gist Carney-Stratakis Dyad Gist-Paraganglioma Dyad PGGSS Paraganglioma, Gastric Stromal Sarcoma Gastrointestinal Stromal Tumors
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Disease Vhl Vhl Syndrome VHLS Von Hippel-Lindau Syndrome, Modifier Of Hippel Lindau Syndrome Angiomatosis Retinae Cerebelloretinal Angiomatosis, Familial Hippel-Lindau Disease Familial Cerebelloretinal Angiomatosis Lindau Disease VHLD
Intrahepatic Bile Duct Adenoma	Adenoma Of Intrahepatic Bile Duct Adenoma Of The Intrahepatic Bile Duct

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS04212	EGLN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18812	Egln1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25302	Egln1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	EGLN1	VGNC	VGNC:72036
Rattus norvegicus	EGLN1	RGD	RGD:631375
Mus musculus	EGLN1	MGD	MGI:1932286
Bos taurus	EGLN1	VGNC	VGNC:107307
Canis familiaris	EGLN1	VGNC	VGNC:40240
Others	EGLN1	NCBI