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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

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