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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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