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    POLR3E RNA polymerase III subunit E [ Homo sapiens (human) ]

    Gene ID: 55718, updated on 13-Apr-2024

    Summary

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    Official Symbol
    POLR3Eprovided by HGNC
    Official Full Name
    RNA polymerase III subunit Eprovided by HGNC
    Primary source
    HGNC:HGNC:30347
    See related
    Ensembl:ENSG00000058600 MIM:617815; AllianceGenome:HGNC:30347
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C37; SIN; RPC5
    Summary
    Predicted to enable DNA-directed 5'-3' RNA polymerase activity. Predicted to be involved in defense response to virus; innate immune response; and transcription, DNA-templated. Located in nucleoplasm. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in prostate (RPKM 6.2), thyroid (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p12.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (22297409..22335096)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (21882112..21919803, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (22308730..22346417)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22221261-22221761 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43156 Neighboring gene GATA motif-containing MPRA enhancer 198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22229709-22230208 Neighboring gene eukaryotic elongation factor 2 kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22237029-22237652 Neighboring gene Sharpr-MPRA regulatory region 4253 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:22308474-22309018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7267 Neighboring gene Sharpr-MPRA regulatory region 3906 Neighboring gene tRNA-Leu (anticodon AAG) 2-4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:22333033-22333580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:22333581-22334130 Neighboring gene uncharacterized LOC124903664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22358198-22358698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7268 Neighboring gene cerebellar degeneration related protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10573 Neighboring gene CDR2 divergent transcript

    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. A mutation in POLR3E impairs antiviral immune response and RNA polymerase III. Ramanathan A, et al. Proc Natl Acad Sci U S A, 2020 Sep 8. PMID 32843346, Free PMC Article
    2. Mutations in RNA Polymerase III genes and defective DNA sensing in adults with varicella-zoster virus CNS infection. Carter-Timofte ME, et al. Genes Immun, 2019 Mar. PMID 29728610
    3. SIN, a novel Drosophila protein that associates with the RNA binding protein sex-lethal. Dong Z, et al. Gene, 1999 Sep 17. PMID 10521666
    4. FACT facilitates chromatin transcription by RNA polymerases I and III. Birch JL, et al. EMBO J, 2009 Apr 8. PMID 19214185, Free PMC Article
    5. Structure of human RNA polymerase III elongation complex. Li L, et al. Cell Res, 2021 Jul. PMID 33674783, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.
      Title: A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.
    2. Mutations in the coding region of POLR3E cause impaired expression of antiviral cytokines and susceptibility to varicella-zoster virus CNS infection.
      Title: Mutations in RNA Polymerase III genes and defective DNA sensing in adults with varicella-zoster virus CNS infection.
    3. Data describe the purification and identification of RNA polymerase III subunits RPC2 and RPC5.
      Title: Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits.
    Submit: New GeneRIF Correction

    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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    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

    Process Evidence Code Pubs
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tRNA transcription by RNA polymerase III IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    DNA-directed RNA polymerase III subunit RPC5
    Names
    DNA-directed RNA polymerase III 80 kDa polypeptide
    RNA polymerase III 80 kDa subunit RPC5
    RNA polymerase III subunit C5
    polymerase (RNA) III (DNA directed) polypeptide E (80kD)
    polymerase (RNA) III subunit E

    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.

    mRNA and Protein(s)

    1. NM_001258033.2 → NP_001244962.1  DNA-directed RNA polymerase III subunit RPC5 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site in the 3' coding region compared to variant 1. The resulting isoform (2) is shorter, missing an internal protein segment, compared to isoform 1.
      Source sequence(s)
      AA282721, AC092338, AK001371, AK026645, AK222671, AK300735, AW205673
      Consensus CDS
      CCDS58432.1
      UniProtKB/TrEMBL
      Q53GZ2
      Related
      ENSP00000456967.1, ENST00000564209.5
      Conserved Domains (1) summary
      pfam04801
      Location:5 → 432
      Sin_N; Sin-like protein conserved region

    2. NM_001258034.2 → NP_001244963.1  DNA-directed RNA polymerase III subunit RPC5 isoform 4

      See identical proteins and their annotated locations for NP_001244963.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon and uses an alternate acceptor splice site in the 5' region compared to variant 1, However, it maintains the reading frame, and encodes an isoform (4) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AA282721, AC092338, AK001371, AK222671, AK296813, AW205673, DB047155
      Consensus CDS
      CCDS58434.1
      UniProtKB/TrEMBL
      Q53GZ2
      Related
      ENSP00000399254.2, ENST00000418581.6
      Conserved Domains (1) summary
      pfam04801
      Location:5 → 396
      Sin_N; Sin-like protein conserved region

    3. NM_001258035.2 → NP_001244964.1  DNA-directed RNA polymerase III subunit RPC5 isoform 3

      See identical proteins and their annotated locations for NP_001244964.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' region compared to variant 1, which results in translation initiation from an in-frame downstream AUG, and an isoform (3) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AA282721, AC092338, AK001371, AK023231, AK222671, AW205673, DB047155
      Consensus CDS
      CCDS73845.1
      UniProtKB/TrEMBL
      A0A0C4DH01, Q53GZ2
      Related
      ENSP00000484648.1, ENST00000615879.4
      Conserved Domains (1) summary
      pfam04801
      Location:1 → 396
      Sin_N; Sin-like protein conserved region

    4. NM_001258036.2 → NP_001244965.1  DNA-directed RNA polymerase III subunit RPC5 isoform 5

      See identical proteins and their annotated locations for NP_001244965.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an exon in the 3' coding region compared to variant 1. The resulting isoform (5) is shorter, missing an internal protein segment, compared to isoform 1.
      Source sequence(s)
      AA282721, AC092338, AK001371, AK026645, AK222671, AW205673
      Consensus CDS
      CCDS58433.1
      UniProtKB/TrEMBL
      Q53GZ2
      Related
      ENSP00000352140.4, ENST00000359210.8
      Conserved Domains (1) summary
      pfam04801
      Location:5 → 432
      Sin_N; Sin-like protein conserved region

    5. NM_018119.4 → NP_060589.1  DNA-directed RNA polymerase III subunit RPC5 isoform 1

      See identical proteins and their annotated locations for NP_060589.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA282721, AC092338, AK001371, AK026645, AK222671, AW205673
      Consensus CDS
      CCDS10605.1
      UniProtKB/Swiss-Prot
      B4DL24, B4DUP6, H3BT11, Q9BWF7, Q9H8W8, Q9H907, Q9NVU0, Q9P276
      UniProtKB/TrEMBL
      Q53GZ2
      Related
      ENSP00000299853.5, ENST00000299853.10
      Conserved Domains (1) summary
      pfam04801
      Location:5 → 432
      Sin_N; Sin-like protein conserved region

    RNA

    1. NR_047581.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate acceptor splice site at an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon (with a strong Kozak signal), as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA282721, AC092338, AK001371, AK026645, AK222671, AK293300, AW205673

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      22297409..22335096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545892.3 → XP_011544194.1  DNA-directed RNA polymerase III subunit RPC5 isoform X1

      UniProtKB/TrEMBL
      Q53GZ2
      Conserved Domains (1) summary
      pfam04801
      Location:5 → 431
      Sin_N; Sin-like protein conserved region

    2. XM_011545893.4 → XP_011544195.1  DNA-directed RNA polymerase III subunit RPC5 isoform X2

      UniProtKB/TrEMBL
      Q53GZ2
      Related
      ENST00000564061.5
      Conserved Domains (1) summary
      pfam04801
      Location:5 → 432
      Sin_N; Sin-like protein conserved region

    3. XM_047434362.1 → XP_047290318.1  DNA-directed RNA polymerase III subunit RPC5 isoform X3

      UniProtKB/Swiss-Prot
      B4DL24, B4DUP6, H3BT11, Q9BWF7, Q9H8W8, Q9H907, Q9NVU0, Q9P276

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852933.1 Reference GRCh38.p14 PATCHES

      Range
      769934..807621 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332150.1 → XP_054188125.1  DNA-directed RNA polymerase III subunit RPC5 isoform X1

    2. XM_054332151.1 → XP_054188126.1  DNA-directed RNA polymerase III subunit RPC5 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      21882112..21919803 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313464.1 → XP_054169439.1  DNA-directed RNA polymerase III subunit RPC5 isoform X1

    2. XM_054313465.1 → XP_054169440.1  DNA-directed RNA polymerase III subunit RPC5 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVU0.1 GenPept UniProtKB/Swiss-Prot:Q9NVU0

    Gene LinkOut

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

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