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] See more...

Aliases for POLR1H Gene

Aliases for POLR1H Gene

  • RNA Polymerase I Subunit H 2 3
  • Zinc Ribbon Domain Containing 1 2 3 5
  • ZNRD1 3 4 5
  • DNA-Directed RNA Polymerase I Subunit RPA12 3 4
  • Tctex-6 2 3
  • HTEX-6 2 3
  • A12.2 2 3
  • HZR14 2 3
  • RPA12 2 4
  • RNA Polymerase I Small Specific Subunit Rpa12 3
  • Transcription-Associated Zinc Ribbon Protein 3
  • DNA-Directed RNA Polymerase I Subunit H 4
  • Zinc Ribbon Domain-Containing Protein 1 4
  • TCTEX6 3
  • HTEX6 3
  • Rpa12 3
  • TEX6 3
  • ZR14 3

External Ids for POLR1H Gene

Previous HGNC Symbols for POLR1H Gene

  • ZNRD1

Summaries for POLR1H Gene

Entrez Gene Summary for POLR1H Gene

  • 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]

GeneCards Summary for POLR1H Gene

POLR1H (RNA Polymerase I Subunit H) is a Protein Coding gene. Diseases associated with POLR1H include Asthma, Nasal Polyps, And Aspirin Intolerance and Gastric Cancer. Among its related pathways are RNA Polymerase I Promoter Escape and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. An important paralog of this gene is POLR3K.

UniProtKB/Swiss-Prot Summary for POLR1H Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors.

Gene Wiki entry for POLR1H Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLR1H Gene

Genomics for POLR1H Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLR1H Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLR1H on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLR1H

Genomic Locations for POLR1H Gene

Genomic Locations for POLR1H Gene
chr6:30,058,899-30,064,909
(GRCh38/hg38)
Size:
6,011 bases
Orientation:
Plus strand
chr6:30,026,676-30,032,686
(GRCh37/hg19)
Size:
6,011 bases
Orientation:
Plus strand

Genomic View for POLR1H Gene

Genes around POLR1H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR1H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR1H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for POLR1H Gene

  • Protein details for POLR1H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P1U0-RPA12_HUMAN
    Recommended name:
    DNA-directed RNA polymerase I subunit RPA12
    Protein Accession:
    Q9P1U0

    Protein attributes for POLR1H Gene

    Size:
    126 amino acids
    Molecular mass:
    13904 Da
    Quaternary structure:
    • Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits.

neXtProt entry for POLR1H Gene

Post-translational modifications for POLR1H Gene

No Post-translational modifications

Other Protein References for POLR1H Gene

No data available for DME Specific Peptides for POLR1H Gene

Domains & Families for POLR1H Gene

Gene Families for POLR1H Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for POLR1H Gene

InterPro:
Blocks:
  • DNA-directed RNA polymerase, M/15 kDa subunit
ProtoNet:

Suggested Antigen Peptide Sequences for POLR1H Gene

GenScript: Design optimal peptide antigens:
  • DNA-directed RNA polymerase subunit (Q2L6J2_HUMAN)
  • Zinc ribbon domain-containing protein 1 (RPA12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P1U0

UniProtKB/Swiss-Prot:

RPA12_HUMAN :
  • Belongs to the archaeal RpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family.
Family:
  • Belongs to the archaeal RpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family.
genes like me logo Genes that share domains with POLR1H: view

Function for POLR1H Gene

Molecular function for POLR1H Gene

UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors.

Phenotypes From GWAS Catalog for POLR1H Gene

Gene Ontology (GO) - Molecular Function for POLR1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003899 DNA-directed 5'-3' RNA polymerase activity IBA --
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with POLR1H: view
genes like me logo Genes that share phenotypes with POLR1H: view

Animal Model Products

CRISPR Products

miRNA for POLR1H Gene

miRTarBase miRNAs that target POLR1H

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR1H

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POLR1H Gene

Localization for POLR1H Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR1H Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLR1H gene
Compartment Confidence
nucleus 4
extracellular 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLR1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005736 RNA polymerase I complex IBA 21873635
genes like me logo Genes that share ontologies with POLR1H: view

Pathways & Interactions for POLR1H Gene

genes like me logo Genes that share pathways with POLR1H: view

SIGNOR curated interactions for POLR1H Gene

Activates:

Gene Ontology (GO) - Biological Process for POLR1H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 10662553
GO:0006351 transcription, DNA-templated IEA --
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006362 transcription elongation from RNA polymerase I promoter TAS --
GO:0006363 termination of RNA polymerase I transcription IBA,TAS --
genes like me logo Genes that share ontologies with POLR1H: view

Drugs & Compounds for POLR1H Gene

(7) Drugs for POLR1H Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Cytidine triphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Uridine triphosphate Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(2) Additional Compounds for POLR1H Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with POLR1H: view

Transcripts for POLR1H Gene

mRNA/cDNA for POLR1H Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR1H

Alternative Splicing Database (ASD) splice patterns (SP) for POLR1H Gene

No ASD Table

Relevant External Links for POLR1H Gene

GeneLoc Exon Structure for
POLR1H

Expression for POLR1H Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLR1H

SOURCE GeneReport for Unigene cluster for POLR1H Gene:

Hs.57813

Evidence on tissue expression from TISSUES for POLR1H Gene

  • Skin(4.4)
  • Muscle(4.3)
  • Nervous system(3.3)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLR1H Gene

Orthologs for POLR1H Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POLR1H Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZNRD1 30 31
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZNRD1 30 31
  • 89.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Znrd1 30
  • 82.66 (n)
Dog
(Canis familiaris)
Mammalia ZNRD1 30 31
  • 80.95 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Znrd1 30 17 31
  • 80.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZNRD1 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ZNRD1 31
  • 26 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZNRD1 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia znrd1 30
  • 65.29 (n)
Str.20223 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33613 30
Zebrafish
(Danio rerio)
Actinopterygii znrd1 30 31
  • 62.36 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1899 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002375 30
  • 53.15 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta RpI12 30 31
  • 47.86 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea rpoa-12 31
  • 39 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPA12 31 33 33
  • 34 (a)
OneToOne
Species where no ortholog for POLR1H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for POLR1H Gene

ENSEMBL:
Gene Tree for POLR1H (if available)
TreeFam:
Gene Tree for POLR1H (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POLR1H: view image

Paralogs for POLR1H Gene

Paralogs for POLR1H Gene

genes like me logo Genes that share paralogs with POLR1H: view

Variants for POLR1H Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLR1H Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs17187658 - p.Gln14His

Additional dbSNP identifiers (rs#s) for POLR1H Gene

Structural Variations from Database of Genomic Variants (DGV) for POLR1H Gene

Variant ID Type Subtype PubMed ID
esv2731777 CNV deletion 23290073
esv3411275 CNV duplication 20981092
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv477598 CNV novel sequence insertion 20440878
nsv601264 CNV loss 21841781

Variation tolerance for POLR1H Gene

Residual Variation Intolerance Score: 64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.65; 45.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLR1H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR1H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR1H Gene

Disorders for POLR1H Gene

MalaCards: The human disease database

(2) MalaCards diseases for POLR1H Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
asthma, nasal polyps, and aspirin intolerance
  • asa triad
gastric cancer
  • gastric cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with POLR1H: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POLR1H Gene

Publications for POLR1H Gene

  1. A new zinc ribbon gene (ZNRD1) is cloned from the human MHC class I region. (PMID: 10662553) Fan W … Lennon G (Genomics 2000) 2 3 4 23
  2. Basic mechanisms in RNA polymerase I transcription of the ribosomal RNA genes. (PMID: 23150253) Goodfellow SJ … Zomerdijk JC (Sub-cellular biochemistry 2013) 2 3
  3. ZNRD1 gene suppresses cell proliferation through cell cycle arrest in G1 phase. (PMID: 15662122) Hong L … Fan D (Cancer biology & therapy 2005) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Suppression of the cell proliferation in stomach cancer cells by the ZNRD1 gene. (PMID: 15358150) Hong L … Fan D (Biochemical and biophysical research communications 2004) 3 23

Products for POLR1H Gene