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POLR3A RNA polymerase III subunit A [ Homo sapiens (human) ]

Gene ID: 11128, updated on 11-Apr-2024

Summary

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Official Symbol
POLR3Aprovided by HGNC
Official Full Name
RNA polymerase III subunit Aprovided by HGNC
Primary source
HGNC:HGNC:30074
See related
Ensembl:ENSG00000148606 MIM:614258; AllianceGenome:HGNC:30074
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADDH; C160; HLD7; RPC1; WDRTS; RPC155; hRPC155
Summary
The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in brain (RPKM 7.2), testis (RPKM 4.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
10q22.3
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (77975149..78029515, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (78844187..78898555, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (79734907..79789273, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene discs large MAGUK scaffold protein 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:79688206-79688382 Neighboring gene DLG5 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 2866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:79707975-79708512 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr10:79708513-79709050 and GRCh37_chr10:79709051-79709588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:79730866-79731376 Neighboring gene H2A.Z histone pseudogene 5 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:79743812-79745011 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:79784551-79785750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3613 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:79799147-79799658 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:79799659-79800168 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:79800489-79800990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3616 Neighboring gene ribosomal protein S24 Neighboring gene G protein subunit alpha i2 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Distinguishing severe phenotypes associated with pathogenic variants in POLR3A. Perrier S, et al. Am J Med Genet A, 2022 Feb. PMID 34773388, Free PMC Article
  2. POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients. Di Donato I, et al. Neurol Sci, 2022 Feb. PMID 34296356, Free PMC Article
  3. Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A. Majethia P, et al. Am J Med Genet A, 2021 May. PMID 33559318
  4. Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia. Fellner A, et al. Clin Genet, 2021 May. PMID 33491183
  5. Functional characterization of Polr3a hypomyelinating leukodystrophy mutations in the S. cerevisiae homolog, RPC160. Moir RD, et al. Gene, 2021 Feb 5. PMID 33148458, Free PMC Article

See all (109) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
    Title: Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
  2. Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
    Title: Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
  3. Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
    Title: Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
  4. Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.
    Title: Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.
  5. POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
    Title: POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
  6. RNA polymerase III is required for the repair of DNA double-strand breaks by homologous recombination.
    Title: RNA polymerase III is required for the repair of DNA double-strand breaks by homologous recombination.
  7. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
    Title: Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
  8. Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.
    Title: Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.
  9. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
    Title: Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
  10. POLR3A variants with striatal involvement and extrapyramidal movement disorder.
    Title: POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of polymerase (RNA) III (DNA directed) polypeptide A, (POLR3A) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates the transcription by RNA polymerase III of co-transfected or endogenous cellular Alu-repeated sequences by activating transcription factor TFIIIC PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA-directed 5'-3' RNA polymerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-directed 5'-3' RNA polymerase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables DNA/RNA hybrid binding IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to RNA polymerase III activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA-templated transcription NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in defense response to virus IEA
Inferred from Electronic Annotation
more info
  
involved_in innate immune response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of interferon-beta production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in tRNA transcription by RNA polymerase III IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of RNA polymerase III complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of RNA polymerase III complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
DNA-directed RNA polymerase III subunit RPC1
Names
DNA-directed RNA polymerase III largest subunit
DNA-directed RNA polymerase III subunit A
RNA polymerase III 155 kDa subunit
RNA polymerase III subunit C1
RNA polymerase III subunit C160
RNA polymerase III subunit RPC155-D
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
polymerase (RNA) III subunit A
NP_008986.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029648.1 RefSeqGene

    Range
    5026..59392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007055.4 → NP_008986.2  DNA-directed RNA polymerase III subunit RPC1

    See identical proteins and their annotated locations for NP_008986.2

    Status: REVIEWED

    Source sequence(s)
    AK024744, AY091459, BC041089, CA449326, DA103416, DA353439
    Consensus CDS
    CCDS7354.1
    UniProtKB/Swiss-Prot
    O14802, Q8IW34, Q8TCW5
    UniProtKB/TrEMBL
    B7Z6H4
    Related
    ENSP00000361446.3, ENST00000372371.8
    Conserved Domains (3) summary
    cd02736
    Location:1021 → 1360
    RNAP_III_Rpc1_C; Largest subunit (Rpc1) of Eukaryotic RNA polymerase III (RNAP III), C-terminal domain
    CHL00117
    Location:841 → 1058
    rpoC2; RNA polymerase beta'' subunit; Reviewed
    cd02583
    Location:24 → 891
    RNAP_III_RPC1_N; Largest subunit (RPC1) of eukaryotic RNA polymerase III (RNAP III), N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    77975149..78029515 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    78844187..78898555 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14802.2 GenPept UniProtKB/Swiss-Prot:O14802

Gene LinkOut

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