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    POLR3K RNA polymerase III subunit K [ Homo sapiens (human) ]

    Gene ID: 51728, updated on 2-Nov-2024

    Summary

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    Official Symbol
    POLR3Kprovided by HGNC
    Official Full Name
    RNA polymerase III subunit Kprovided by HGNC
    Primary source
    HGNC:HGNC:14121
    See related
    Ensembl:ENSG00000161980 MIM:606007; AllianceGenome:HGNC:14121
    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
    C11; HLD21; My010; RPC10; RPC11; RPC12.5; C11-RNP3
    Summary
    This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]
    Expression
    Ubiquitous expression in lymph node (RPKM 13.5), appendix (RPKM 11.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POLR3K in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (46407..53608, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (39992..47144, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (96407..103608, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene WASH and IL9R antisense RNA 2 Neighboring gene IL9R pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:83993-84764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88640-89187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89188-89734 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:102874-103400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6898 Neighboring gene small nuclear ribonucleoprotein U11/U12 subunit 25 Neighboring gene rhomboid 5 homolog 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:120389-121206 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:122199-122382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6899 Neighboring gene uncharacterized LOC124903617 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:122843-123660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:123661-124478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:124479-125296

    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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    Related articles in PubMed

    1. [Molecular identification and characteristics of hRPC11, the smallest specific subunit of human RNA polymerase III]. Spakovskiĭ GV, et al. Bioorg Khim, 1998 Nov. PMID 10079944
    2. Cryo-EM structures of human RNA polymerase III in its unbound and transcribing states. Girbig M, et al. Nat Struct Mol Biol, 2021 Feb. PMID 33558764, Free PMC Article
    3. The RNA cleavage activity of RNA polymerase III is mediated by an essential TFIIS-like subunit and is important for transcription termination. Chédin S, et al. Genes Dev, 1998 Dec 15. PMID 9869639, Free PMC Article
    4. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. De Gobbi M, et al. Science, 2006 May 26. PMID 16728641
    5. The relationship between chromosome structure and function at a human telomeric region. Flint J, et al. Nat Genet, 1997 Mar. PMID 9054936

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cryo-EM structures of human RNA polymerase III in its unbound and transcribing states.
      Title: Cryo-EM structures of human RNA polymerase III in its unbound and transcribing states.
    2. Results from a study on gene expression variability markers in early-stage human embryos shows that POLR3K is a putative expression variability marker for the 3-day, 8-cell embryo stage.
      Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
    3. Changes in Maf1 expression affect Pol III-dependent transcription in human glioblastoma lines.
      Title: Mammalian Maf1 is a negative regulator of transcription by all three nuclear RNA polymerases.
    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
    Leukodystrophy, hypomyelinating, 21
    MedGen: C5543334 OMIM: 619310 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
    EBI GWAS Catalog

    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 
    contributes_to RNA polymerase III activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 termination of RNA polymerase III transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in 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 TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    DNA-directed RNA polymerase III subunit RPC10
    Names
    DNA-directed RNA polymerase III subunit K
    DNA-directed RNA polymerases III 12.5 kDa polypeptide
    RNA polymerase III 12.5 kDa subunit
    RNA polymerase III subunit C10
    RNA polymerase III subunit C11
    RNA polymerase III subunit CII
    polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa
    polymerase (RNA) III subunit K
    NP_057394.3

    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_016310.5 → NP_057394.3  DNA-directed RNA polymerase III subunit RPC10

      See identical proteins and their annotated locations for NP_057394.3

      Status: REVIEWED

      Source sequence(s)
      BC011932, DR978472, KF456133, Z69719
      Consensus CDS
      CCDS10395.1
      UniProtKB/Swiss-Prot
      Q1W6H4, Q96S35, Q9Y2Y1
      Related
      ENSP00000293860.5, ENST00000293860.6
      Conserved Domains (2) summary
      COG1594
      Location:1 → 108
      RPB9; DNA-directed RNA polymerase, subunit M/Transcription elongation factor TFIIS [Transcription]
      cd10509
      Location:61 → 108
      Zn-ribbon_RPC11; C-terminal zinc ribbon domain of RPC11 subunit of RNA polymerase 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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      46407..53608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      39992..47144 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2Y1.3 GenPept UniProtKB/Swiss-Prot:Q9Y2Y1

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