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  2. HIF3A - hypoxia inducible factor 3 subunit alpha Gene

HIF3A - hypoxia inducible factor 3 subunit alpha Gene

中文名称:缺氧诱导因子 3 亚基 α

种属: Homo sapiens

同用名: IPAS; MOP7; PASD7; HIF-3A; bHLHe17; HIF3-alpha-1

基因 ID: 64344 | 基因类型: protein coding

关于 HIF3A

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:46,297,042-46,343,433 (from NCBI)

This gene has 19 transcripts (splice variants), 191 orthologues and 7 paralogues. Broad expression in placenta (RPKM 8.3), spleen (RPKM 6.6) and 17 other tissues.

功能概要

由该基因编码的蛋白质是几种 alpha/beta 亚基异二聚体转录因子之一的 alpha-3 亚基,这些转录因子调节许多对低氧张力 (缺氧) 的适应性反应。 alpha-3 亚基缺少在包含 alpha-1 或 alpha-2 亚基的因子中发现的反式激活域。人们认为含有 alpha-3 亚基的因子是缺氧诱导基因表达的负调节因子。已发现该基因的多个选择性剪接转录物变体。[RefSeq 提供,2011 年 3 月]

The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]

HIF3A 基因产物(4)

mRNA Protein Name
NM_022462.4 NP_071907.4 hypoxia-inducible factor 3-alpha isoform b
NM_152794.4 NP_690007.1 hypoxia-inducible factor 3-alpha isoform a
NM_152795.4 NP_690008.2 hypoxia-inducible factor 3-alpha isoform c
NM_152796.2 NP_690009.1 hypoxia-inducible factor 3-alpha isoform d
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 DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
11573933 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
31768607 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16126907 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in cellular response to hypoxia IDA
IDA: 通过直接分析推断
11573933 GOA
involved in regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
11573933 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
31768607 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

HIF3A 蛋白结构

PAS

PAS: PAS fold (92 - 146)

PAS_11

PAS_11: PAS domain (241 - 343)

HIF-1

HIF-1: Hypoxia-inducible factor-1 (478 - 509)

  • 0
  • 200
  • 400
  • 600
  • 669 a.a.
蛋白主名 其他名称

hypoxia-inducible factor 3-alpha

PAS domain-containing protein 7

关联疾病

疾病名称 别名
Erythrocytosis, Familial, 4

ECYT4

Familial Erythrocytosis 4

Erythrocytosis, Familial, Type 4

Erythrocytosis, Familial, 3

ECYT3

Familial Erythrocytosis 3

Erythrocytosis, Familial, Type 3

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

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
Felis catus HIF3A VGNC VGNC:62814
Macaca mulatta HIF3A VGNC VGNC:73395
Mus musculus HIF3A MGD MGI:1859778
Rattus norvegicus HIF3A RGD RGD:70332
Bos taurus HIF3A VGNC VGNC:29850