1. Gene
  2. POLR2H - RNA polymerase II, I and III subunit H Gene

POLR2H - RNA polymerase II, I and III subunit H Gene

中文名称:RNA 聚合酶 II、I 和 III 亚基 H

种属: Homo sapiens

同用名: RPB8; RPB17; RPABC3

基因 ID: 5437 | 基因类型: protein coding

关于 POLR2H

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:184,361,710-184,368,591 (from NCBI)

This gene has 13 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in duodenum (RPKM 14.6), small intestine (RPKM 13.6) and 25 other tissues.

功能概要

三种真核 RNA 聚合酶是复杂的多亚基酶,在核基因的转录中起着核心作用。该基因编码 RNA 聚合酶 II 的一个必需且高度保守的亚基,该亚基由其他两种真核 DNA 指导的 RNA 聚合酶 I 和 III 共享。可变剪接导致该基因的多个转录变体。[RefSeq 提供,2013 年 7 月]

The three eukaryotic RNA polymerases are complex multisubunit Enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the Other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

POLR2H 基因产物(18)

mRNA Protein Name
NM_001278698.2 NP_001265627.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 1
NM_001278699.3 NP_001265628.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 3
NM_001278700.2 NP_001265629.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 3
NM_001278714.2 NP_001265643.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 4
NM_001278715.2 NP_001265644.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 5
NM_001346879.2 NP_001333808.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 6
NM_001389576.1 NP_001376505.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389578.1 NP_001376507.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389579.1 NP_001376508.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389581.1 NP_001376510.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389582.1 NP_001376511.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389583.1 NP_001376512.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389584.1 NP_001376513.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
NM_001389585.1 NP_001376514.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 3
NM_001389586.1 NP_001376515.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 3
NM_001389587.1 NP_001376516.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 3
NM_001389588.1 NP_001376517.1 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 3
NM_006232.5 NP_006223.2 DNA-directed RNA polymerases I, II, and III subunit RPABC3 isoform 2
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 single-stranded DNA binding IDA
IDA: 通过直接分析推断
16632472 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
9852112 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of RNA polymerase I complex IDA
IDA: 通过直接分析推断
34671025 GOA
part of RNA polymerase II, core complex IDA
IDA: 通过直接分析推断
9852112 GOA
part of RNA polymerase III complex IDA
IDA: 通过直接分析推断
33335104 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9852112 GOA
part of protein-DNA complex IDA
IDA: 通过直接分析推断
16632472 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

POLR2H 蛋白结构

RNA_pol_Rpb8

RNA_pol_Rpb8: RNA polymerase Rpb8 (7 - 147)

  • 0
  • 100
  • 150 a.a.
蛋白主名 其他名称

DNA-directed RNA polymerases I, II, and III subunit RPABC3

DNA-directed RNA polymerase II subunit H

关联疾病

疾病名称 别名
Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

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
Macaca mulatta POLR2H VGNC VGNC:76216
Felis catus POLR2H VGNC VGNC:68953
Bos taurus POLR2H VGNC VGNC:33142
Rattus norvegicus POLR2H RGD RGD:1561203
Mus musculus POLR2H MGD MGI:2384309