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  2. POLR1B - RNA polymerase I subunit B Gene

POLR1B - RNA polymerase I subunit B Gene

中文名称:RNA 聚合酶 I 亚基 B

种属: Homo sapiens

同用名: A135; RPA2; TCS4; RPA135; Rpo1-2

基因 ID: 84172 | 基因类型: protein coding

关于 POLR1B

Cytogenetic location: 2q14.1 Genomic coordinates (GRCh38): 2:112,542,036-112,579,818 (from NCBI)

This gene has 17 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 8.1), thyroid (RPKM 7.8) and 25 other tissues.

功能概要

真核 RNA 聚合酶 I (pol I) 负责核糖体 RNA (rRNA) 基因的转录和 rRNA (核糖体的主要成分) 的产生。 Pol I 是一种多亚基酶,由 6 到 14 个多肽组成,具体取决于物种。 pol I 复合物的大部分质量来自酵母中的 2 个最大亚基 Rpa1 和 Rpa2。 POLR1B 与 Rpa2 同源 (Seither 和 Grummt,1996 [PubMed 8921381]) 。[OMIM 提供,2008 年 3 月]

Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit Enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]

POLR1B 基因产物(10)

mRNA Protein Name
NM_001137604.3 NP_001131076.1 DNA-directed RNA polymerase I subunit RPA2 isoform 2
NM_001282772.2 NP_001269701.1 DNA-directed RNA polymerase I subunit RPA2 isoform 3
NM_001282774.2 NP_001269703.1 DNA-directed RNA polymerase I subunit RPA2 isoform 4
NM_001282776.2 NP_001269705.1 DNA-directed RNA polymerase I subunit RPA2 isoform 5
NM_001282777.2 NP_001269706.1 DNA-directed RNA polymerase I subunit RPA2 isoform 6
NM_001282779.2 NP_001269708.1 DNA-directed RNA polymerase I subunit RPA2 isoform 6
NM_001371969.1 NP_001358898.1 DNA-directed RNA polymerase I subunit RPA2 isoform 7
NM_001371970.1 NP_001358899.1 DNA-directed RNA polymerase I subunit RPA2 isoform 6
NM_001371971.1 NP_001358900.1 DNA-directed RNA polymerase I subunit RPA2 isoform 5
NM_019014.6 NP_061887.2 DNA-directed RNA polymerase I subunit RPA2 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-directed 5'-3' RNA polymerase activity IDA
IDA: 通过直接分析推断
34671025 GOA
enables DNA/RNA hybrid binding IDA
IDA: 通过直接分析推断
34671025 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16514417 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
34671025 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
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

POLR1B 蛋白结构

RNA_pol_Rpb2_1

RNA_pol_Rpb2_1: RNA polymerase beta subunit (37 - 417)

RNA_pol_Rpb2_2

RNA_pol_Rpb2_2: RNA polymerase Rpb2, domain 2 (186 - 374)

RNA_pol_Rpb2_3

RNA_pol_Rpb2_3: RNA polymerase Rpb2, domain 3 (456 - 520)

RNA_pol_Rpa2_4

RNA_pol_Rpa2_4: RNA polymerase I, Rpa2 specific domain (563 - 621)

RNA_pol_Rpb2_5

RNA_pol_Rpb2_5: RNA polymerase Rpb2, domain 5 (623 - 663)

RNA_pol_Rpb2_6

RNA_pol_Rpb2_6: RNA polymerase Rpb2, domain 6 (668 - 1030)

RNA_pol_Rpb2_7

RNA_pol_Rpb2_7: RNA polymerase Rpb2, domain 7 (1033 - 1133)

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  • 1135 a.a.
蛋白主名 其他名称

DNA-directed RNA polymerase I subunit RPA2

DNA-directed RNA polymerase I 135 kDa polypeptide

关联疾病

疾病名称 别名
Treacher Collins Syndrome 4

TCS4

Treacher-Collins Syndrome 4

Treacher Collins Syndrome 1

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia

Neurofibromatosis-Noonan Syndrome

NFNS

Neurofibromatosis Type 1

Neurofibromatosis With Noonan Phenotype

Nf1

Von Recklinghausen Disease

Neurofibromatosis Type 1-Noonan Syndrome

Noonan Neurofibromatosis Syndrome

Recklinghausen'S Disease

Noonan-Neurofibromatosis Syndrome

Fibromatosis Multiple Non Ossifying

Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots

Jaffe Campanacci Syndrome

Type 1 Neurofibromatosis

Neurofibromatosis 1

Peripheral Neurofibromatosis

Recklinghausen Disease, Nerve

Jaffe-Campanacci Syndrome

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
Canis familiaris POLR1B VGNC VGNC:44789
Felis catus POLR1B VGNC VGNC:64286
Rattus norvegicus POLR1B RGD RGD:620822
Macaca mulatta POLR1B VGNC VGNC:76083
Bos taurus POLR1B VGNC VGNC:33132
Mus musculus POLR1B MGD MGI:108014