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    POLR1H RNA polymerase I subunit H [ Homo sapiens (human) ]

    Gene ID: 30834, updated on 9-Dec-2024

    Summary

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    Official Symbol
    POLR1Hprovided by HGNC
    Official Full Name
    RNA polymerase I subunit Hprovided by HGNC
    Primary source
    HGNC:HGNC:13182
    See related
    Ensembl:ENSG00000066379 MIM:607525; AllianceGenome:HGNC:13182
    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
    TEX6; ZR14; A12.2; HTEX6; Rpa12; ZNRD1; hZR14; HTEX-6; TCTEX6; tctex-6
    Summary
    This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in lymph node (RPKM 12.3), appendix (RPKM 10.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POLR1H in Genome Data Viewer
    Location:
    6p22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30060062..30064907)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (29925545..29929181)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30029042..30032684)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene POLR1H antisense, pseudogene Neighboring gene major histocompatibility complex, class I, J (pseudogene) Neighboring gene eukaryotic translation termination factor 1 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30028069-30028935 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30028936-30029801 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30041647-30042322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30042323-30042996 Neighboring gene ring finger protein 39 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30068196-30068705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30070193-30070692 Neighboring gene TRIM31 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:30080310-30081509 Neighboring gene tripartite motif containing 31

    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. Mechanisms of growth arrest by zinc ribbon domain-containing 1 in gastric cancer cells. Hong L, et al. Carcinogenesis, 2007 Aug. PMID 17389617
    2. Role of ZNRD1 (zinc ribbon domain-containing 1) in angiogenesis of leukaemia cells. Hong L, et al. Cell Biol Int, 2011 Apr. PMID 21080911
    3. ZNRD1 gene suppresses cell proliferation through cell cycle arrest in G1 phase. Hong L, et al. Cancer Biol Ther, 2005 Jan. PMID 15662122
    4. A possible association between ZNRD1 and aspirin-induced airway bronchoconstriction in a Korean population. Pasaje CF, et al. J Investig Allergol Clin Immunol, 2012. PMID 22697009
    5. ZNRD1 (zinc ribbon domain-containing 1) is a host cellular factor that influences HIV-1 replication and disease progression. Ballana E, et al. Clin Infect Dis, 2010 Apr 1. PMID 20192730

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression of RNA polymerase I catalytic core is influenced by RPA12.
      Title: Expression of RNA polymerase I catalytic core is influenced by RPA12.
    2. RNA polymerase I subunit 12 plays opposite roles in cell proliferation and migration.
      Title: RNA polymerase I subunit 12 plays opposite roles in cell proliferation and migration.
    3. ZNRD1 and Its Antisense Long Noncoding RNA ZNRD1-AS1 Are Oppositely Regulated by Cold Atmospheric Plasma in Breast Cancer Cells.
      Title: ZNRD1 and Its Antisense Long Noncoding RNA ZNRD1-AS1 Are Oppositely Regulated by Cold Atmospheric Plasma in Breast Cancer Cells.
    4. ZNRD1-AS and RP11-819C21.1 long non-coding RNA changes following painful laser stimulation correlate with laser-evoked potential amplitude and habituation in healthy subjects: A pilot study.
      Title: ZNRD1-AS and RP11-819C21.1 long non-coding RNA changes following painful laser stimulation correlate with laser-evoked potential amplitude and habituation in healthy subjects: A pilot study.
    5. MiR-26b suppresses hepatocellular carcinoma development by negatively regulating ZNRD1 and Wnt/beta-catenin signaling.
      Title: MiR-26b suppresses hepatocellular carcinoma development by negatively regulating ZNRD1 and Wnt/β-catenin signaling.
    6. Findings suggest a tumor suppressor function for ZNRD1 gene and a tumor contributor function for long noncoding RNAs (IncRNAs) ZNRD1-AS1 in the process of carcinogenesis of lung cancer.
      Title: Strong evidence for LncRNA ZNRD1-AS1, and its functional Cis- eQTL locus contributing more to the susceptibility of lung cancer.
    7. The minor alleles of rs2395029, rs9264942, and rs3689068 in the HCP5 and HLA-C, and ZNRD1 genes associate with lower viral loads (VL) among antiretroviral-naive individuals and with shorter time to first VL less 51 copies/ml during anti-HIV therapy.
      Title: Impact of polymorphisms in the HCP5 and HLA-C, and ZNRD1 genes on HIV viral load.
    8. ZNRD1 regulatory SNPs may be susceptibility makers for risk of both chronic HBV infection and HCC.
      Title: Expression quantitative trait loci in long non-coding RNA ZNRD1-AS1 influence both HBV infection and hepatocellular carcinoma development.
    9. This study provides novel evidence that ZNRD1 polymorphism may confer host resistance to HIV-1 acquisition.
      Title: Regulatory variation in HIV-1 dependency factor ZNRD1 associates with host resistance to HIV-1 acquisition.
    10. A miR-508-5p/ZNRD1/ABCB1 regulatory loop has a critical role in MDR in gastric cancer.
      Title: miR-508-5p regulates multidrug resistance of gastric cancer by targeting ABCB1 and ZNRD1.
    Submit: New GeneRIF Correction See all GeneRIFs (26)

    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

    EBI GWAS Catalog

    Description
    Common genetic variation and the control of HIV-1 in humans.
    EBI GWAS Catalog
    Genome-wide association study of proneness to anger.
    EBI GWAS Catalog
    Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of zinc ribbon domain containing 1 (ZNRD1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells 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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    Homology

    Clone Names

    • MGC13376

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to RNA polymerase I 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in nucleobase-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in termination of RNA polymerase I transcription IBA
    Inferred from Biological aspect of Ancestor
    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 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    DNA-directed RNA polymerase I subunit RPA12
    Names
    DNA-directed RNA polymerase I subunit H
    RNA polymerase I small specific subunit Rpa12
    transcription-associated zinc ribbon protein
    zinc ribbon domain containing 1
    NP_001265714.1
    NP_001265715.1
    NP_055411.1
    NP_740753.1
    XP_047274651.1
    XP_054185774.1
    XP_054186262.1
    XP_054186553.1
    XP_054187294.1

    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_001278785.2 → NP_001265714.1  DNA-directed RNA polymerase I subunit RPA12

      See identical proteins and their annotated locations for NP_001265714.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) differs in the 5' UTR, compared to variant a. Variants a, b, c, and d encode the same protein.
      Source sequence(s)
      AF238321, DN996443, HY071776
      Consensus CDS
      CCDS4670.1
      UniProtKB/Swiss-Prot
      Q9P1U0
      UniProtKB/TrEMBL
      A0A1U9X8Y8, Q2L6J2
      Related
      ENSP00000365978.2, ENST00000376782.6
      Conserved Domains (2) summary
      cd10507
      Location:79 → 125
      Zn-ribbon_RPA12; C-terminal zinc ribbon domain of RPA12 subunit of RNA polymerase I
      cl28246
      Location:20 → 102
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    2. NM_001278786.2 → NP_001265715.1  DNA-directed RNA polymerase I subunit RPA12

      See identical proteins and their annotated locations for NP_001265715.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d) differs in the 5' UTR, compared to variant 1. Variants a, b, c, and d encode the same protein.
      Source sequence(s)
      AF238321, BG503963
      Consensus CDS
      CCDS4670.1
      UniProtKB/Swiss-Prot
      Q9P1U0
      UniProtKB/TrEMBL
      A0A1U9X8Y8, Q2L6J2
      Related
      ENSP00000365981.2, ENST00000376785.2
      Conserved Domains (2) summary
      cd10507
      Location:79 → 125
      Zn-ribbon_RPA12; C-terminal zinc ribbon domain of RPA12 subunit of RNA polymerase I
      cl28246
      Location:20 → 102
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    3. NM_014596.6 → NP_055411.1  DNA-directed RNA polymerase I subunit RPA12

      See identical proteins and their annotated locations for NP_055411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) differs in the 5' UTR, compared to variant a. Variants a, b, c, and d encode the same protein.
      Source sequence(s)
      AF238321, HY071776
      Consensus CDS
      CCDS4670.1
      UniProtKB/Swiss-Prot
      Q9P1U0
      UniProtKB/TrEMBL
      A0A1U9X8Y8, Q2L6J2
      Related
      ENSP00000352333.4, ENST00000359374.8
      Conserved Domains (2) summary
      cd10507
      Location:79 → 125
      Zn-ribbon_RPA12; C-terminal zinc ribbon domain of RPA12 subunit of RNA polymerase I
      cl28246
      Location:20 → 102
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    4. NM_170783.4 → NP_740753.1  DNA-directed RNA polymerase I subunit RPA12

      See identical proteins and their annotated locations for NP_740753.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the longest transcript. Variants a, b, c, and d encode the same protein.
      Source sequence(s)
      AF238321, BQ690150, HY071776
      Consensus CDS
      CCDS4670.1
      UniProtKB/Swiss-Prot
      Q9P1U0
      UniProtKB/TrEMBL
      A0A1U9X8Y8, Q2L6J2
      Related
      ENSP00000331111.5, ENST00000332435.10
      Conserved Domains (2) summary
      cd10507
      Location:79 → 125
      Zn-ribbon_RPA12; C-terminal zinc ribbon domain of RPA12 subunit of RNA polymerase I
      cl28246
      Location:20 → 102
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    RNA

    1. NR_103864.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e) uses an alternate 5' exon structure, and lacks an internal exon, compared to variant a. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant a, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF238321, BM798114, HY071776
      Related
      ENST00000463141.1

    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
      30060062..30064907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418695.1 → XP_047274651.1  DNA-directed RNA polymerase I subunit RPA12 isoform X1

      UniProtKB/Swiss-Prot
      Q9P1U0
      UniProtKB/TrEMBL
      A0A1U9X8Y8, Q2L6J2

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1319363..1322999
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1539839..1544678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329799.1 → XP_054185774.1  DNA-directed RNA polymerase I subunit RPA12 isoform X1

      UniProtKB/Swiss-Prot
      Q9P1U0
      UniProtKB/TrEMBL
      A0A1U9X8Y8, Q2L6J2

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1315984..1320823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330287.1 → XP_054186262.1  DNA-directed RNA polymerase I subunit RPA12 isoform X1

      UniProtKB/Swiss-Prot
      Q9P1U0
      UniProtKB/TrEMBL
      A0A1U9X8Y8, Q2L6J2

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1320816..1325656
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330578.1 → XP_054186553.1  DNA-directed RNA polymerase I subunit RPA12 isoform X1

      UniProtKB/Swiss-Prot
      Q9P1U0
      UniProtKB/TrEMBL
      A0A1U9X8Y8, Q2L6J2

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      1405358..1408997
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      1316447..1320068
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      1358984..1363826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331319.1 → XP_054187294.1  DNA-directed RNA polymerase I subunit RPA12 isoform X1

      UniProtKB/Swiss-Prot
      Q9P1U0
      UniProtKB/TrEMBL
      A0A1U9X8Y8, Q2L6J2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      29925545..29929181
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P1U0.1 GenPept UniProtKB/Swiss-Prot:Q9P1U0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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