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

    Gene ID: 171568, updated on 13-Apr-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, Apr 2022]
    Expression
    Ubiquitous expression in heart (RPKM 36.2), kidney (RPKM 22.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    22q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41525799..41544606, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42004636..42023450, complement)
    105.20220307 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
    • 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. 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
    2. 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
    3. 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
    4. Structure of human RNA polymerase III elongation complex. Li L, et al. Cell Res, 2021 Jul. PMID 33674783, Free PMC Article
    5. The human immunodeficiency virus tat protein increases the transcription of human Alu repeated sequences by increasing the activity of the cellular transcription factor TFIIIC. Jang KL, et al. J Acquir Immune Defic Syndr (1988), 1992. PMID 1403646

    See all (31) 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)

    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

    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_2023_10

    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

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