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    POLR3C RNA polymerase III subunit C [ Homo sapiens (human) ]

    Gene ID: 10623, updated on 13-Apr-2024

    Summary

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    Official Symbol
    POLR3Cprovided by HGNC
    Official Full Name
    RNA polymerase III subunit Cprovided by HGNC
    Primary source
    HGNC:HGNC:30076
    See related
    Ensembl:ENSG00000186141 MIM:617454; AllianceGenome:HGNC:30076
    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
    C82; RPC3; RPC62
    Summary
    Enables single-stranded DNA binding activity. Involved in positive regulation of innate immune response and positive regulation of interferon-beta production. Located in nucleoplasm. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 7.3), lymph node (RPKM 3.9) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See POLR3C in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (145824200..145844402)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (144941003..144961205)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145590666..145610913, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene PDZ domain containing 1 Neighboring gene NANOG hESC enhancer GRCh37_chr1:145744111-145744612 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:145727451-145728650 Neighboring gene CD160 molecule Neighboring gene ring finger protein 115 Neighboring gene MPRA-validated peak399 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr1:145629590-145630098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1614 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:145584188-145585387 Neighboring gene nudix hydrolase 17 Neighboring gene microRNA 6736 Neighboring gene protein inhibitor of activated STAT 3

    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. From Rare Copy Number Variants to Biological Processes in ADHD. Harich B, et al. Am J Psychiatry, 2020 Sep 1. PMID 32600152
    2. The hRPC62 subunit of human RNA polymerase III displays helicase activity. Ayoubi LE, et al. Nucleic Acids Res, 2019 Nov 4. PMID 31529052, Free PMC Article
    3. Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections. Ogunjimi B, et al. J Clin Invest, 2017 Sep 1. PMID 28783042, Free PMC Article
    4. Identification of an immunodominant epitope on RNA polymerase III recognized by systemic sclerosis sera: application to enzyme-linked immunosorbent assay. Kuwana M, et al. Arthritis Rheum, 2002 Oct. PMID 12384934
    5. Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2. Mertens C, et al. Proc Natl Acad Sci U S A, 2001 Jul 3. PMID 11416169, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. From Rare Copy Number Variants to Biological Processes in ADHD.
      Title: From Rare Copy Number Variants to Biological Processes in ADHD.
    2. the eWH domain of hTFIIEalpha can replace the first eWH (eWH1) domain of hRPC62 in ATPase and DNA unwinding assays. Our results identify intrinsic enzymatic activities in hRPC62 and hTFIIEalpha.
      Title: The hRPC62 subunit of human RNA polymerase III displays helicase activity.
    3. monogenic or digenic POLR3A and POLR3C deficiencies confer increased susceptibility to severe VZV disease in otherwise healthy children, providing evidence for an essential role of a DNA sensor in human immunity
      Title: Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.
    4. The study reports the crystal structure of RPC62.
      Title: Structure-function analysis of hRPC62 provides insights into RNA polymerase III transcription initiation.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Convergent animal and human evidence suggests a role of PPM1A gene in response to antidepressants.
    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

    Function Evidence Code Pubs
    enables DNA-directed 5'-3' RNA polymerase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 positive regulation of 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 regulation of transcription by RNA polymerase III TAS
    Traceable Author Statement
    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 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 RPC3
    Names
    DNA-directed III 62 kDa polypeptide
    DNA-directed RNA polymerase III subunit C
    RNA polymerase III 62 kDa subunit
    RNA polymerase III subunit C3
    polymerase (RNA) III (DNA directed) polypeptide C (62kD)
    polymerase (RNA) III subunit C

    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_001303456.1 → NP_001290385.1  DNA-directed RNA polymerase III subunit RPC3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and uses an upstream start codon compared to variant 1. It encodes isoform 2 which has a longer and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      BC002586, BC053590, BE258456, BQ932484, DA291657, DA816269
      UniProtKB/TrEMBL
      Q53F76
      Conserved Domains (2) summary
      pfam05645
      Location:159 → 358
      RNA_pol_Rpc82; RNA polymerase III subunit RPC82
      pfam08221
      Location:20 → 78
      HTH_9; RNA polymerase III subunit RPC82 helix-turn-helix domain

    2. NM_006468.8 → NP_006459.3  DNA-directed RNA polymerase III subunit RPC3 isoform 1

      See identical proteins and their annotated locations for NP_006459.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
      Source sequence(s)
      BC002586, BC053590, BE258456, BI831011, BQ932484, DA291657
      Consensus CDS
      CCDS72864.1
      UniProtKB/Swiss-Prot
      O15317, Q9BUI4, Q9Y3R6
      UniProtKB/TrEMBL
      Q53F76
      Related
      ENSP00000334564.3, ENST00000334163.4
      Conserved Domains (2) summary
      pfam05645
      Location:146 → 345
      RNA_pol_Rpc82; RNA polymerase III subunit RPC82
      pfam08221
      Location:7 → 65
      HTH_9; RNA polymerase III subunit RPC82 helix-turn-helix 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      145824200..145844402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433954.1 → XP_047289910.1  DNA-directed RNA polymerase III subunit RPC3 isoform X2

      Related
      ENSP00000513917.1, ENST00000698761.1

    2. XM_047434013.1 → XP_047289969.1  DNA-directed RNA polymerase III subunit RPC3 isoform X4

    3. XM_011509078.4 → XP_011507380.1  DNA-directed RNA polymerase III subunit RPC3 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TNN2
      Conserved Domains (2) summary
      pfam05645
      Location:159 → 332
      RNA_pol_Rpc82; RNA polymerase III subunit RPC82
      pfam08221
      Location:20 → 78
      HTH_9; RNA polymerase III subunit RPC82 helix-turn-helix domain

    4. XM_047433903.1 → XP_047289859.1  DNA-directed RNA polymerase III subunit RPC3 isoform X1

      Related
      ENSP00000513915.1, ENST00000698756.1

    RNA

    1. XR_921723.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      144941003..144961205
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333885.1 → XP_054189860.1  DNA-directed RNA polymerase III subunit RPC3 isoform X2

    2. XM_054333887.1 → XP_054189862.1  DNA-directed RNA polymerase III subunit RPC3 isoform X4

    3. XM_054333886.1 → XP_054189861.1  DNA-directed RNA polymerase III subunit RPC3 isoform X3

    4. XM_054333884.1 → XP_054189859.1  DNA-directed RNA polymerase III subunit RPC3 isoform X1

    RNA

    1. XR_008485873.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BUI4.1 GenPept UniProtKB/Swiss-Prot:Q9BUI4

    Gene LinkOut

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

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