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

Gene ID: 9533, updated on 25-Nov-2021

Summary

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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
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Genomic context

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See POLR1C in Genome Data Viewer
Location:
6p21.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (43517089..44461400)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43484827..43530144)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 73 Neighboring gene ribosomal protein S2 pseudogene 29 Neighboring gene Yip1 domain family member 3 Neighboring gene exportin 5 Neighboring gene MAD2L1 binding protein Neighboring gene DNA polymerase eta Neighboring gene GTP binding protein 2 Neighboring gene exosome component 8 pseudogene Neighboring gene mitochondrial ribosomal protein S18A Neighboring gene radial spoke head component 9 Neighboring gene Sharpr-MPRA regulatory region 8365 Neighboring gene uncharacterized LOC105375070 Neighboring gene uncharacterized LOC107986598 Neighboring gene uncharacterized LOC105375069 Neighboring gene uncharacterized LOC105375068 Neighboring gene vascular endothelial growth factor A Neighboring gene long intergenic non-protein coding RNA 2537 Neighboring gene uncharacterized LOC105375067 Neighboring gene long intergenic non-protein coding RNA 1512 Neighboring gene Sharpr-MPRA regulatory region 2143 Neighboring gene chromosome 6 open reading frame 223 Neighboring gene stem cell inhibitory RNA transcript Neighboring gene ribosomal protein L29 pseudogene 16 Neighboring gene uncharacterized LOC107986599 Neighboring gene uncharacterized LOC105375072 Neighboring gene mitochondrial ribosomal protein L14 Neighboring gene transmembrane protein 63B Neighboring gene calpain 11 Neighboring gene RNA, 7SL, cytoplasmic 811, pseudogene Neighboring gene solute carrier family 29 member 1 (Augustine blood group) Neighboring gene heat shock protein 90 alpha family class B member 1 Neighboring gene myomixer, myoblast fusion factor Neighboring gene solute carrier family 35 member B2 Neighboring gene microRNA 4647 Neighboring gene transmembrane protein 151B Neighboring gene NFKB inhibitor epsilon Neighboring gene t-complex-associated-testis-expressed 1 Neighboring gene alanyl-tRNA synthetase 2, mitochondrial Neighboring gene spermatogenesis associated serine rich 1 Neighboring gene CRISPRi-validated cis-regulatory element chr6.3216 Neighboring gene cell division cycle 5 like Neighboring gene uncharacterized LOC105375074 Neighboring gene microRNA 4642

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. 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. Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. Ghesh L, et al. Am J Med Genet A, 2019 Jul. PMID 30957429
  3. 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
  4. 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
  5. Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia. Ching-López A, et al. Int J Mol Sci, 2021 Mar 15. PMID 33804237, Free PMC Article

See all (109) 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. 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.
  2. Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
    Title: Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
  3. eport here a new family with two sisters affected by mild TCS carrying compound POLR1C heterozygous mutations, and review the literature on mild forms of TCS, autosomal recessive inheritance in this syndrome and POLR1C mutations
    Title: Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS
    Title: Treacher Collins Syndrome: the genetics of a craniofacial disease.
  9. 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.
  10. 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

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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

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
  
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 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in transcription by RNA polymerase I TAS
Traceable Author Statement
more info
 PubMed 
involved_in transcription by RNA polymerase III IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of RNA polymerase I complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
part_of RNA polymerase III complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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 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)

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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_028283.3 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001318876.2 → 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 109.20211119

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
    43517089..44461400
    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

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