EGLN1 - egl-9 family hypoxia inducible factor 1 Gene

Homo sapiens

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

Gene ID: 54583 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04212	EGLN1 Human Pre-designed siRNA Set A		/	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

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