1. Gene
  2. HIF1AN - hypoxia inducible factor 1 subunit alpha inhibitor Gene

HIF1AN - hypoxia inducible factor 1 subunit alpha inhibitor Gene

中文名称:缺氧诱导因子 1 亚基 α 抑制因子

种属: Homo sapiens

同用名: FIH1

基因 ID: 55662 | 基因类型: protein coding

关于 HIF1AN

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,535,943-100,559,998 (from NCBI)

This gene has 5 transcripts (splice variants), 212 orthologues and 4 paralogues. Ubiquitous expression in testis (RPKM 12.2), skin (RPKM 8.6) and 25 other tissues.

功能概要

启用多种功能,包括 2-酮戊二酸依赖性双加氧酶活性; NF-kappaB 结合活性;和过渡金属离子结合活性。参与多个过程,包括 Notch 信号通路的负调控; RNA 聚合酶 II 启动子对缺氧反应的转录负调控;和蛋白质羟基化。位于胞质溶胶中;核质;和细胞质的核周区。与细胞核共定位。 [由基因组资源联盟提供,2022 年 4 月]

Enables several functions, including 2-oxoglutarate-dependent dioxygenase activity; NF-kappaB binding activity; and transition metal ion binding activity. Involved in several processes, including negative regulation of Notch signaling pathway; negative regulation of transcription from RNA polymerase II promoter in response to hypoxia; and protein hydroxylation. Located in cytosol; nucleoplasm; and perinuclear region of cytoplasm. Colocalizes with nucleus. [provided by Alliance of Genome Resources, Apr 2022]

HIF1AN 基因产物(1)

mRNA Protein Name
NM_017902.3 NP_060372.2 hypoxia-inducible factor 1-alpha inhibitor
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 NF-kappaB binding IPI
IPI: 通过物理相互作用推断
17003112 GOA
enables Notch binding IPI
IPI: 通过物理相互作用推断
17573339 GOA
enables [protein]-asparagine 3-dioxygenase activity IDA
IDA: 通过直接分析推断
12080085 GOA
enables [protein]-asparagine 3-dioxygenase activity IMP
IMP: 通过突变表型推断
19245366 GOA
enables ankyrin repeat binding IPI
IPI: 通过物理相互作用推断
17003112 GOA
enables carboxylic acid binding IDA
IDA: 通过直接分析推断
17135241 GOA
enables ferrous iron binding IDA
IDA: 通过直接分析推断
12446723 GOA
enables peptidyl-aspartic acid 3-dioxygenase activity IDA
IDA: 通过直接分析推断
21177872 GOA
enables peptidyl-histidine dioxygenase activity IDA
IDA: 通过直接分析推断
21251231 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11641274 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
12446723 GOA
enables transcription corepressor activity IDA
IDA: 通过直接分析推断
11641274 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
12446723 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of Notch signaling pathway IDA
IDA: 通过直接分析推断
18299578 GOA
involved in positive regulation of myoblast differentiation IMP
IMP: 通过突变表型推断
18299578 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
14734545 GOA
colocalizes with nucleus IDA
IDA: 通过直接分析推断
18299578 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
19726677 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

HIF1AN 蛋白结构

Cupin_8

Cupin_8: Cupin-like domain (53 - 298)

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

hypoxia-inducible factor 1-alpha inhibitor

FIH-1

关联疾病

疾病名称 别名
Erythrocytosis, Familial, 4

ECYT4

Familial Erythrocytosis 4

Erythrocytosis, Familial, Type 4

Erythrocytosis, Familial, 5

ECYT5

Familial Erythrocytosis 5

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

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

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

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus HIF1AN RGD RGD:1308281
Felis catus HIF1AN VGNC VGNC:97455
Canis familiaris HIF1AN VGNC VGNC:41687
Mus musculus HIF1AN MGD MGI:2442345
Bos taurus HIF1AN VGNC VGNC:29849
Macaca mulatta HIF1AN VGNC VGNC:81417