Sign in to NCBI
Format

Send to:

Choose Destination

POLR1C RNA polymerase I and III subunit C [ Homo sapiens (human) ]

Gene ID: 9533, updated on 5-Jul-2020

Summary

Go to the top of the page Help
Official Symbol
POLR1Cprovided by HGNC
Official Full Name
RNA polymerase I and III subunit Cprovided by HGNC
Primary source
HGNC:HGNC:20194
See related
Ensembl:ENSG00000171453 MIM:610060
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
AC40; RPA5; TCS3; HLD11; RPA39; RPA40; RPAC1; RPC40
Summary
The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Expression
Ubiquitous expression in testis (RPKM 7.7), skin (RPKM 5.6) and 25 other tissues See more
Orthologs
mouse all

Genomic context

Go to the top of the page Help
See POLR1C in Genome Data Viewer
Location:
6p21.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (43517024..43562407)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43484777..43497114)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 73 Neighboring gene Yip1 domain family member 3 Neighboring gene exportin 5 Neighboring gene ribosomal protein S2 pseudogene 29 Neighboring gene DNA polymerase eta Neighboring gene GTP binding protein 2 Neighboring gene MAD2L1 binding protein

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia. Kraoua I, et al. Mol Genet Genomic Med, 2019 Sep. PMID 31368241, Free PMC Article
  2. Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. Matsumoto N, et al. Biochem Biophys Res Commun, 2018 Apr 30. PMID 29567474
  3. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Thiffault I, et al. Nat Commun, 2015 Jul 7. PMID 26151409, Free PMC Article
  4. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Dauwerse JG, et al. Nat Genet, 2011 Jan. PMID 21131976
  5. WRN helicase accelerates the transcription of ribosomal RNA as a component of an RNA polymerase I-associated complex. Shiratori M, et al. Oncogene, 2002 Apr 11. PMID 11971179

See all (88) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The clinical and imaging findings of patients with POLR1C hypomyelinating leukodystrophy are reviewed. Interestingly, severe myoclonic dystonia and T2 hypointensity of the substantia nigra and the subthalamic nucleus are not reported yet and could be helpful for the diagnosis of POLR1C hypomyelinating leukodystrophy.
    Title: Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
  2. Treacher Collins syndrome 3-associated mutation leads to the localization of POLR1C into the lysosome and inhibits chondrogenic differentiation, possibly explaining a portion of the pathological molecular basis underlying Treacher Collins syndrome.
    Title: Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.
  3. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS.
    Title: Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
  4. This study is the first to show that distinct mutations in a gene coding for a shared subunit of two RNA polymerases lead to selective modification of the enzymes' availability leading to two different clinical conditions.
    Title: Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
  5. Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS
    Title: Treacher Collins Syndrome: the genetics of a craniofacial disease.
  6. mutations in both alleles of POLR1C in three individuals with Treacher Collins syndrome.
    Title: Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
  7. analyzed the kinetics of assembly and elongation of the RNA polymerase I complex on endogenous ribosomal genes in the nuclei of living cells with the use of in vivo microscopy
    Title: A kinetic framework for a mammalian RNA polymerase in vivo.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
  
contributes_to DNA-directed 5'-3' RNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
contributes_to RNA polymerase I activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
contributes_to RNA polymerase III activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
positive regulation of gene expression, epigenetic TAS
Traceable Author Statement
more info
  
positive regulation of type I interferon production TAS
Traceable Author Statement
more info
  
termination of RNA polymerase I transcription TAS
Traceable Author Statement
more info
  
transcription by RNA polymerase I TAS
Traceable Author Statement
more info
 PubMed 
transcription by RNA polymerase III IEA
Inferred from Electronic Annotation
more info
  
transcription elongation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
  
transcription initiation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
RNA polymerase I complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
RNA polymerase III complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
RNA polymerase III complex IDA
Inferred from Direct Assay
more info
 PubMed 
cytosol TAS
Traceable Author Statement
more info
  
nucleoplasm IDA
Inferred from Direct Assay
more info
  
nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
Preferred Names
DNA-directed RNA polymerases I and III subunit RPAC1
Names
DNA-directed RNA polymerase I subunit C
DNA-directed RNA polymerases I and III 40 kDa polypeptide
RNA polymerase I subunit C
RNA polymerases I and III subunit AC1
polymerase (RNA) I polypeptide C, 30kDa
polymerase (RNA) I subunit C

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_028283.3 RefSeqGene

    Range
    12388..16812
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318876.1 → NP_001305805.1  DNA-directed RNA polymerases I and III subunit RPAC1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' terminal exon, resulting in a different 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a shorter, distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AF047441, BC008863, DW415914
    Consensus CDS
    CCDS4900.1
    UniProtKB/Swiss-Prot
    O15160
    Related
    ENSP00000307212.3, ENST00000304004.7
    Conserved Domains (2) summary
    cd07032
    Location:49 → 307
    RNAP_I_II_AC40; AC40 subunit of Eukaryotic RNA polymerase (RNAP) I and RNAP III
    smart00662
    Location:61 → 267
    RPOLD; RNA polymerases D

  2. NM_001363658.2 → NP_001350587.1  DNA-directed RNA polymerases I and III subunit RPAC1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL355802
    Consensus CDS
    CCDS87408.1
    Related
    ENSP00000496018.1, ENST00000643341.1
    Conserved Domains (1) summary
    cd07032
    Location:49 → 307
    RNAP_I_II_AC40; AC40 subunit of Eukaryotic RNA polymerase (RNAP) I and RNAP III

  3. NM_203290.4 → NP_976035.1  DNA-directed RNA polymerases I and III subunit RPAC1 isoform 1

    See identical proteins and their annotated locations for NP_976035.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC008863, DW415914
    Consensus CDS
    CCDS4901.1
    UniProtKB/Swiss-Prot
    O15160
    Related
    ENSP00000496044.1, ENST00000642195.1
    Conserved Domains (1) summary
    cd07032
    Location:49 → 339
    RNAP_I_II_AC40; AC40 subunit of Eukaryotic RNA polymerase (RNAP) I and RNAP III

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    43517024..43562407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_004875.2: Suppressed sequence

    Description
    NM_004875.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15160.1 GenPept UniProtKB/Swiss-Prot:O15160

Gene LinkOut

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

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous
You are here: NCBI > Genes & Expression > Gene
Support Center