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

Gene ID: 9533, updated on 3-Nov-2024

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; AllianceGenome:HGNC:20194
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:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43517089..43562407)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43345828..43391139)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43484827..43530144)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24602 Neighboring gene leucine rich repeat containing 73 Neighboring gene Yip1 domain family member 3 Neighboring gene MPRA-validated peak5815 silencer Neighboring gene exportin 5 Neighboring gene U7 small nuclear RNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17235 Neighboring gene small Cajal body-specific RNA 15 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:43514706-43515905 Neighboring gene ribosomal protein S2 pseudogene 29 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43545520-43546020 Neighboring gene DNA polymerase eta Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43579698-43579923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24606 Neighboring gene GTP binding protein 2 Neighboring gene MAD2L1 binding protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43604555-43605342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43605343-43606129

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 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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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

Associated conditions

Description Tests
Hypomyelinating leukodystrophy 11
MedGen: C4225305 OMIM: 616494 GeneReviews: POLR3-Related Leukodystrophy
not available
Treacher Collins syndrome 3
MedGen: C1855433 OMIM: 248390 GeneReviews: Treacher Collins Syndrome
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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
  
enables DNA-directed 5'-3' RNA polymerase activity TAS
Traceable Author Statement
more info
 PubMed 
contributes_to RNA polymerase I activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to RNA polymerase III activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
part_of RNA polymerase I complex IDA
Inferred from Direct Assay
more info
 PubMed 
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 cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

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_028283.4 RefSeqGene

    Range
    5002..9426
    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
    UniProtKB/TrEMBL
    A0A2R8Y5D3
    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
    UniProtKB/TrEMBL
    A0A2R8Y5D3, A0A2R8YEZ4
    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, O75395, Q5JTE3
    UniProtKB/TrEMBL
    Q96HT3
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    43517089..43562407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    43345828..43391139
    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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