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

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

Summary

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

Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
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

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)

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_001318876.1NP_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:49307
    RNAP_I_II_AC40; AC40 subunit of Eukaryotic RNA polymerase (RNAP) I and RNAP III
    smart00662
    Location:61267
    RPOLD; RNA polymerases D
  2. NM_001363658.2NP_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:49307
    RNAP_I_II_AC40; AC40 subunit of Eukaryotic RNA polymerase (RNAP) I and RNAP III
  3. NM_203290.4NP_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:49339
    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.
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