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POLR3H RNA polymerase III subunit H [ Homo sapiens (human) ]

Gene ID: 171568, updated on 2-Nov-2024

Summary

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Official Symbol
POLR3Hprovided by HGNC
Official Full Name
RNA polymerase III subunit Hprovided by HGNC
Primary source
HGNC:HGNC:30349
See related
Ensembl:ENSG00000100413 MIM:619801; AllianceGenome:HGNC:30349
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C25; RPC8; RPC22.9
Summary
Enables DNA-directed 5'-3' RNA polymerase activity. Involved in transcription by RNA polymerase III. Located in centrosome and nucleoplasm. Part of RNA polymerase III complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in heart (RPKM 36.2), kidney (RPKM 22.6) and 25 other tissues See more
Orthologs
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Genomic context

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See POLR3H in Genome Data Viewer
Location:
22q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41525799..41544606, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42004636..42023450, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41921803..41940610, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41842575-41843270 Neighboring gene uncharacterized LOC105373043 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41843271-41843966 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41864665-41865226 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:41865227-41865788 Neighboring gene PHD finger protein 5A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13791 Neighboring gene aconitase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:41906728-41906890 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41908781-41909388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41909996-41910602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41910603-41911209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19118 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:41922291-41922505 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41927905-41928713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41928714-41929522 Neighboring gene Sharpr-MPRA regulatory region 5669 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:41939835-41940672 Neighboring gene uncharacterized LOC105373044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:41951599-41952098 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:41952629-41952876 Neighboring gene Sharpr-MPRA regulatory region 3167 Neighboring gene cold shock domain containing C2

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. Epstein-Barr virus-encoded EBNA1 enhances RNA polymerase III-dependent EBER expression through induction of EBER-associated cellular transcription factors. Owen TJ, et al. Mol Cancer, 2010 Sep 15. PMID 20843307, Free PMC Article
  2. The hepatitis delta virus RNA genome interacts with the human RNA polymerases I and III. Greco-Stewart VS, et al. Virology, 2009 Mar 30. PMID 19246067
  3. Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency. Franca MM, et al. J Clin Endocrinol Metab, 2019 Jul 1. PMID 30830215, Free PMC Article
  4. Structural insights into RNA polymerase III-mediated transcription termination through trapping poly-deoxythymidine. Hou H, et al. Nat Commun, 2021 Oct 21. PMID 34675218, Free PMC Article
  5. Structure of human RNA polymerase III. Ramsay EP, et al. Nat Commun, 2020 Dec 17. PMID 33335104, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A pathogenic homozygous missense mutation (c.149A>G; p.Asp50Gly) in the POLR3H gene in two unrelated families with primary ovarian insufficiency was identified.
    Title: Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.
  2. Findings reveal that RNA polymerase III-dependent EBER expression through induction of cellular transcription factors and add to the repertoire of EBNA1's transcription-regulatory properties.
    Title: Epstein-Barr virus-encoded EBNA1 enhances RNA polymerase III-dependent EBER expression through induction of EBER-associated cellular transcription factors.
  3. The authors demonstrate the interaction of both RNA polymerase I and III with hepatitis delta virus RNA, both in vitro and in human cells.
    Title: The hepatitis delta virus RNA genome interacts with the human RNA polymerases I and III.
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)

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

Clone Names

  • KIAA1665, MGC29654, MGC111097

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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
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 nucleobase-containing compound metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in transcription by RNA polymerase III IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in transcription initiation at RNA polymerase III promoter IBA
Inferred from Biological aspect of Ancestor
more info
  
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 centrosome IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
DNA-directed RNA polymerase III subunit RPC8
Names
DNA-directed RNA polymerase III subunit 22.9 kDa polypeptide
DNA-directed RNA polymerase III subunit H
RNA nucleotidyltransferase (DNA-directed)
RNA polymerase III subunit C8
polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)
polymerase (RNA) III subunit H
NP_001018060.1
NP_001018062.1
NP_001269813.1
NP_001269814.1
NP_612211.1
XP_011528295.1
XP_047297136.1
XP_047297137.1
XP_047297138.1
XP_054181193.1
XP_054181194.1
XP_054181195.1
XP_054181196.1
XP_054181197.1
XP_054181198.1

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_001018050.4 → NP_001018060.1  DNA-directed RNA polymerase III subunit RPC8 isoform a

    See identical proteins and their annotated locations for NP_001018060.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 3, 5, and 6 encode the same isoform (a).
    Source sequence(s)
    AB051452, AK000365, AL023553, BM701572, DA238361, DA449644
    Consensus CDS
    CCDS14018.1
    UniProtKB/Swiss-Prot
    B0QYH9, Q5M7Y8, Q96AE3, Q9BY95, Q9Y535
    Related
    ENSP00000347345.4, ENST00000355209.9
    Conserved Domains (2) summary
    cd04330
    Location:2 → 81
    RNAP_III_Rpc25_N; Rpc25, N-terminal ribonucleoprotein (RNP) domain. Rpc25 is a subunit of eukaryotic RNA polymerase (RNAP) III and is homologous to Rpa43 of eukaryotic RNAP I, Rpb7 of eukaryotic RNAP II, and RpoE of archaeal RNAP. Rpc25 has two domains, an N-terminal RNP ...
    pfam08292
    Location:83 → 201
    RNA_pol_Rbc25; RNA polymerase III subunit Rpc25

  2. NM_001018052.4 → NP_001018062.1  DNA-directed RNA polymerase III subunit RPC8 isoform b

    See identical proteins and their annotated locations for NP_001018062.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AB051452, AK000365, AL023553, BC017248, BM701572, DA238361, DA449644
    Consensus CDS
    CCDS33651.1
    UniProtKB/Swiss-Prot
    Q9Y535
    Related
    ENSP00000337627.5, ENST00000337566.9
    Conserved Domains (2) summary
    cd04330
    Location:2 → 70
    RNAP_III_Rpc25_N; RNAP_III_Rpc25_N: Rpc25, N-terminal ribonucleoprotein (RNP) domain. Rpc25 is a subunit of eukaryotic RNA polymerase (RNAP) III and is homologous to Rpa43 of eukaryotic RNAP I, Rpb7 of eukaryotic RNAP II, and RpoE of archaeal RNAP. Rpc25 has two domains, ...
    pfam08292
    Location:69 → 172
    RNA_pol_Rbc25; RNA polymerase III subunit Rpc25

  3. NM_001282884.2 → NP_001269813.1  DNA-directed RNA polymerase III subunit RPC8 isoform a

    See identical proteins and their annotated locations for NP_001269813.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 3, 5, and 6 encode the same isoform (a).
    Source sequence(s)
    AB051452, AK000365, AL023553, BM701572, BU584298
    Consensus CDS
    CCDS14018.1
    UniProtKB/Swiss-Prot
    B0QYH9, Q5M7Y8, Q96AE3, Q9BY95, Q9Y535
    Related
    ENSP00000385315.1, ENST00000407461.5
    Conserved Domains (2) summary
    cd04330
    Location:2 → 81
    RNAP_III_Rpc25_N; Rpc25, N-terminal ribonucleoprotein (RNP) domain. Rpc25 is a subunit of eukaryotic RNA polymerase (RNAP) III and is homologous to Rpa43 of eukaryotic RNAP I, Rpb7 of eukaryotic RNAP II, and RpoE of archaeal RNAP. Rpc25 has two domains, an N-terminal RNP ...
    pfam08292
    Location:83 → 201
    RNA_pol_Rbc25; RNA polymerase III subunit Rpc25

  4. NM_001282885.2 → NP_001269814.1  DNA-directed RNA polymerase III subunit RPC8 isoform a

    See identical proteins and their annotated locations for NP_001269814.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1, 3, 5, and 6 encode the same isoform (a).
    Source sequence(s)
    AB051452, AK000365, AL023553, BM701572, BU173504, DA449644
    Consensus CDS
    CCDS14018.1
    UniProtKB/Swiss-Prot
    B0QYH9, Q5M7Y8, Q96AE3, Q9BY95, Q9Y535
    Conserved Domains (2) summary
    cd04330
    Location:2 → 81
    RNAP_III_Rpc25_N; Rpc25, N-terminal ribonucleoprotein (RNP) domain. Rpc25 is a subunit of eukaryotic RNA polymerase (RNAP) III and is homologous to Rpa43 of eukaryotic RNAP I, Rpb7 of eukaryotic RNAP II, and RpoE of archaeal RNAP. Rpc25 has two domains, an N-terminal RNP ...
    pfam08292
    Location:83 → 201
    RNA_pol_Rbc25; RNA polymerase III subunit Rpc25

  5. NM_138338.5 → NP_612211.1  DNA-directed RNA polymerase III subunit RPC8 isoform a

    See identical proteins and their annotated locations for NP_612211.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 3, 5, and 6 encode the same isoform (a).
    Source sequence(s)
    AB051452, AK000365, AL023553, BM701572, DA504810
    Consensus CDS
    CCDS14018.1
    UniProtKB/Swiss-Prot
    B0QYH9, Q5M7Y8, Q96AE3, Q9BY95, Q9Y535
    Related
    ENSP00000379761.2, ENST00000396504.6
    Conserved Domains (2) summary
    cd04330
    Location:2 → 81
    RNAP_III_Rpc25_N; Rpc25, N-terminal ribonucleoprotein (RNP) domain. Rpc25 is a subunit of eukaryotic RNA polymerase (RNAP) III and is homologous to Rpa43 of eukaryotic RNAP I, Rpb7 of eukaryotic RNAP II, and RpoE of archaeal RNAP. Rpc25 has two domains, an N-terminal RNP ...
    pfam08292
    Location:83 → 201
    RNA_pol_Rbc25; RNA polymerase III subunit Rpc25

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    41525799..41544606 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441180.1 → XP_047297136.1  DNA-directed RNA polymerase III subunit RPC8 isoform X1

    UniProtKB/Swiss-Prot
    B0QYH9, Q5M7Y8, Q96AE3, Q9BY95, Q9Y535

  2. XM_011529993.2 → XP_011528295.1  DNA-directed RNA polymerase III subunit RPC8 isoform X2

    Conserved Domains (1) summary
    pfam08292
    Location:33 → 138
    RNA_pol_Rbc25; RNA polymerase III subunit Rpc25

  3. XM_047441181.1 → XP_047297137.1  DNA-directed RNA polymerase III subunit RPC8 isoform X2

  4. XM_047441182.1 → XP_047297138.1  DNA-directed RNA polymerase III subunit RPC8 isoform X3

    UniProtKB/TrEMBL
    F8WDV1
    Related
    ENSP00000395674.1, ENST00000431534.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    42004636..42023450 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325220.1 → XP_054181195.1  DNA-directed RNA polymerase III subunit RPC8 isoform X1

    UniProtKB/Swiss-Prot
    B0QYH9, Q5M7Y8, Q96AE3, Q9BY95, Q9Y535

  2. XM_054325218.1 → XP_054181193.1  DNA-directed RNA polymerase III subunit RPC8 isoform X4

  3. XM_054325219.1 → XP_054181194.1  DNA-directed RNA polymerase III subunit RPC8 isoform X1

    UniProtKB/Swiss-Prot
    B0QYH9, Q5M7Y8, Q96AE3, Q9BY95, Q9Y535

  4. XM_054325222.1 → XP_054181197.1  DNA-directed RNA polymerase III subunit RPC8 isoform X2

  5. XM_054325221.1 → XP_054181196.1  DNA-directed RNA polymerase III subunit RPC8 isoform X2

  6. XM_054325223.1 → XP_054181198.1  DNA-directed RNA polymerase III subunit RPC8 isoform X3

    UniProtKB/TrEMBL
    F8WDV1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001018051.1: Suppressed sequence

    Description
    NM_001018051.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y535.1 GenPept UniProtKB/Swiss-Prot:Q9Y535

Gene LinkOut

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