POLR1A - RNA polymerase I subunit A Gene

Also Known as A190; RPA1; RPO14; AFDCIN; RPA190; RPA194; RPO1-4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25885

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_015425.6 NP_056240.2 DNA-directed RNA polymerase I subunit RPA1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables DNA-directed 5'-3' RNA polymerase activity IDA
IDA: Inferred from direct assay
34671025 GOA
enables DNA/RNA hybrid binding IDA
IDA: Inferred from direct assay
34671025 GOA
enables RNA polymerase I activity IMP
IMP: Inferred from mutant phenotype
23782956 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
26089203 GOA
enables magnesium ion binding IDA
IDA: Inferred from direct assay
34887565 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16514417 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
34671025 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of protein localization to nucleolus IMP
IMP: Inferred from mutant phenotype
23782956 GOA
Cellular Component GO Annotation Evidence References Source
part of RNA polymerase I complex IDA
IDA: Inferred from direct assay
34671025 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POLR1A Protein Structure

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)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1720 a.a.
Protein Preferred Names Protein Names

DNA-directed RNA polymerase I subunit RPA1

  • DNA-directed RNA polymerase I largest subunit

POLR1A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
POLR1A O95602 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
Intra
POLR1A O95602 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra
POLR1A O95602 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra
POLR1A O95602 REL Homo sapiens Q04864
Validated Y2H
25416956
Intra
POLR1A O95602 REL Homo sapiens Q04864
Y2H Prey Pooling
25416956
Intra
POLR1A O95602 REL Homo sapiens Q04864
Y2H Array
25416956
Intra
POLR1A O95602 POLR1B Homo sapiens Q9H9Y6
Anti Bait CoIP
16514417
Intra
POLR1A O95602 POLR1B Homo sapiens Q9H9Y6
Chromatography
19214185
Intra
POLR1A O95602 POLR1B Homo sapiens Q9H9Y6
Anti Tag CoIP
26496610
Intra
POLR1A O95602 TCF4 Homo sapiens P15884
Y2H Prey Pooling
25416956
Intra
POLR1A O95602 ERBB2 Homo sapiens P04626
Confocal
21555369
Intra
POLR1A O95602 ERBB2 Homo sapiens P04626
Anti Bait CoIP
21555369
Intra
POLR1A O95602 DYDC2 Homo sapiens Q96IM9
Y2H Prey Pooling
32296183
Intra
POLR1A O95602 DYDC2 Homo sapiens Q96IM9
Validated Y2H
32296183
Intra
POLR1A O95602 DYDC2 Homo sapiens Q96IM9
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10837 POLR1A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21909 Polr1a Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others POLR1A NCBI