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  2. POLR1A - RNA polymerase I subunit A Gene

POLR1A - RNA polymerase I subunit A Gene

中文名称:RNA 聚合酶 I 亚基 A

种属: Homo sapiens

同用名: A190; RPA1; RPO14; AFDCIN; RPA190; RPA194; RPO1-4

基因 ID: 25885 | 基因类型: protein coding

关于 POLR1A

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:86,020,216-86,105,886 (from NCBI)

This gene has 15 transcripts (splice variants), 212 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 5.9), endometrium (RPKM 5.1) and 25 other tissues.

功能概要

该基因编码的蛋白质是 RNA 聚合酶 I 复合物的最大亚基。编码的蛋白质代表复合物的催化亚基,它将 DNA 转录成核糖体 RNA 前体。该基因的缺陷是导致辛辛那提型肢端面部骨发育不全的原因。[RefSeq 提供,2016 年 5 月]

The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]

POLR1A 基因产物(1)

mRNA Protein Name
NM_015425.6 NP_056240.2 DNA-directed RNA polymerase I subunit RPA1
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-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 RNA polymerase I activity IMP
IMP: 通过突变表型推断
23782956 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
26089203 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
34887565 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
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of protein localization to nucleolus IMP
IMP: 通过突变表型推断
23782956 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

POLR1A 蛋白结构

RNA_pol_Rpb1_1

RNA_pol_Rpb1_1: RNA polymerase Rpb1, domain 1 (11 - 354)

RNA_pol_Rpb1_2

RNA_pol_Rpb1_2: RNA polymerase Rpb1, domain 2 (434 - 613)

RNA_pol_Rpb1_3

RNA_pol_Rpb1_3: RNA polymerase Rpb1, domain 3 (617 - 802)

RNA_pol_Rpb1_4

RNA_pol_Rpb1_4: RNA polymerase Rpb1, domain 4 (840 - 951)

RNA_pol_Rpb1_5

RNA_pol_Rpb1_5: RNA polymerase Rpb1, domain 5 (958 - 1672)

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  • 1500
  • 1720 a.a.
蛋白主名 其他名称

DNA-directed RNA polymerase I subunit RPA1

DNA-directed RNA polymerase I largest subunit

POLR1A 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
种属内
POLR1A O95602 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
种属内
POLR1A O95602 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
种属内
POLR1A O95602 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
种属内
POLR1A O95602 REL Homo sapiens Q04864
Validated Y2H
25416956
种属内
POLR1A O95602 REL Homo sapiens Q04864
Y2H Prey Pooling
25416956
种属内
POLR1A O95602 REL Homo sapiens Q04864
Y2H Array
25416956
种属内
POLR1A O95602 POLR1B Homo sapiens Q9H9Y6
Anti Bait CoIP
16514417
种属内
POLR1A O95602 POLR1B Homo sapiens Q9H9Y6
Chromatography
19214185
种属内
POLR1A O95602 POLR1B Homo sapiens Q9H9Y6
Anti Tag CoIP
26496610
种属内
POLR1A O95602 TCF4 Homo sapiens P15884
Y2H Prey Pooling
25416956
种属内
POLR1A O95602 ERBB2 Homo sapiens P04626
Confocal
21555369
种属内
POLR1A O95602 ERBB2 Homo sapiens P04626
Anti Bait CoIP
21555369
种属内
POLR1A O95602 DYDC2 Homo sapiens Q96IM9
Y2H Prey Pooling
32296183
种属内
POLR1A O95602 DYDC2 Homo sapiens Q96IM9
Validated Y2H
32296183
种属内
POLR1A O95602 DYDC2 Homo sapiens Q96IM9
Y2H Array
32296183
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
Acrofacial Dysostosis, Cincinnati Type

Acrofacial Dysostosis Cincinnati Type

AFDCIN

Dysostosis, Acrofacial, Cincinnati Type

Burn-Mckeown Syndrome

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome

Oculootofacial Dysplasia

BMKS

Oofd

Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance

Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome

Choanal Atresia Deafness Cardiac Defects Dysmorphism

Oculo-Oto-Facial Dysplasia

Acrofacial Dysostosis
Dysostosis

Dysostoses

Warsaw Breakage Syndrome

WABS

WBRS

Sweeney-Cox Syndrome

SWCOS

Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs

Osteogenesis Imperfecta, Type Xii

Osteogenesis Imperfecta Type 12

OI12

Osteogenesis Imperfecta Type Xii

Oi, Type Xii

Osteogenesis Imperfecta 12

Oi Type Xii

Oi-Xii

Osteogenesis Imperfecta Sillence Type Iii

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

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas 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
Felis catus POLR1A VGNC VGNC:81152
Macaca mulatta POLR1A VGNC VGNC:76044
Canis familiaris POLR1A VGNC VGNC:44788
Mus musculus POLR1A MGD MGI:1096397
Bos taurus POLR1A VGNC VGNC:33131
Rattus norvegicus POLR1A RGD RGD:620824