2. Gene
  3. EGLN1 - egl-9 family hypoxia inducible factor 1 Gene

EGLN1 - egl-9 family hypoxia inducible factor 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：egl-9 家族缺氧诱导因子 1

种属: Homo sapiens

同用名: HPH2; PHD2; SM20; ECYT3; HALAH; HPH-2; HIFPH2; ZMYND6; C1orf12; HIF-PH2

基因 ID: 54583 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质催化缺氧诱导因子 (HIF) α 蛋白中 4-羟脯氨酸的翻译后形成。 HIF 是一种转录复合物，在哺乳动物氧稳态中起着核心作用。这种蛋白质起着细胞氧传感器的作用，在正常氧浓度下，脯氨酰羟基化修饰是一个关键的调节事件，它通过 von Hippel-Lindau 泛素化复合物靶向 HIF 亚基进行蛋白酶体破坏。该基因的突变与家族性红细胞增多症 3 型 (ECYT3) 有关。[RefSeq 提供，2009 年 11 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 2-oxoglutarate-dependent dioxygenase activity IDA
IDA: 通过直接分析推断
22955912 GOA
enables ferrous iron binding IDA
IDA: 通过直接分析推断
28594552 GOA
enables hypoxia-inducible factor-proline dioxygenase activity IDA
IDA: 通过直接分析推断
11598268 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15721254 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular oxygen homeostasis IDA
IDA: 通过直接分析推断
16956324 GOA
involved in negative regulation of DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
16956324 GOA
involved in response to hypoxia IDA
IDA: 通过直接分析推断
16956324 GOA
involved in response to nitric oxide IDA
IDA: 通过直接分析推断
21601578 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
12615973 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

EGLN1 蛋白结构

zf-MYND

zf-MYND: MYND finger (21 - 58)

2OG-FeII_Oxy_3

2OG-FeII_Oxy_3: 2OG-Fe(II) oxygenase superfamily (299 - 390)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 426 a.a.
蛋白主名 其他名称

egl nine homolog 1

HIF-prolyl hydroxylase 2

EGLN1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04212 EGLN1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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