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Aliases for POLR3H Gene

Aliases for POLR3H Gene

  • RNA Polymerase III Subunit H 2 3 5
  • Polymerase (RNA) III (DNA Directed) Polypeptide H (22.9kD) 2 3
  • DNA-Directed RNA Polymerase III Subunit H 3 4
  • RNA Polymerase III Subunit C8 3 4
  • RPC22.9 3 4
  • RPC8 3 4
  • DNA-Directed RNA Polymerase III Subunit 22.9 KDa Polypeptide 3
  • DNA-Directed RNA Polymerase III Subunit RPC8 3
  • RNA Polymerase III Subunit 22.9 KDa Subunit 4
  • RNA Nucleotidyltransferase (DNA-Directed) 3
  • Polymerase (RNA) III Subunit H 3
  • KIAA1665 4

External Ids for POLR3H Gene

Previous GeneCards Identifiers for POLR3H Gene

  • GC22M040166
  • GC22M040246
  • GC22M041921
  • GC22M024887

Summaries for POLR3H Gene

GeneCards Summary for POLR3H Gene

POLR3H (RNA Polymerase III Subunit H) is a Protein Coding gene. Among its related pathways are Pyrimidine metabolism (KEGG) and RNA Polymerase III Transcription Initiation. GO annotations related to this gene include DNA-directed 5-3 RNA polymerase activity and RNA polymerase III activity.

UniProtKB/Swiss-Prot for POLR3H Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity).

Additional gene information for POLR3H Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLR3H Gene

Genomics for POLR3H Gene

Regulatory Elements for POLR3H Gene

Enhancers for POLR3H Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H041444 1.8 FANTOM5 ENCODE dbSUPER 27.2 +97.9 97891 5.9 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC L3MBTL2 EP300 ZC3H7B PHF5A SLC25A17 XRCC6 POLR3H NDUFA6-AS1 MEI1 TEF
GH22H041556 1.5 FANTOM5 Ensembl ENCODE dbSUPER 28.1 -12.9 -12937 2.3 TEAD1 NFYC REST NR2F2 RARA YY1 ZNF121 JUND ATF3 POLR2A POLR3H SEPT3 CSDC2
GH22H041522 1.5 Ensembl ENCODE dbSUPER 27.4 +19.6 19602 4.9 HDGF FOXA2 ATF1 YY1 TCF12 ZNF766 GATA2 ZNF143 ATF7 NCOA1 POLR3H NDUFA6 PIR57348 PIR38077
GH22H041543 1.3 ENCODE dbSUPER 28.4 +0.4 402 2.2 ATF1 ARID4B SIN3A BRCA1 ZNF2 YY1 ZNF766 GLIS2 ELK1 ZNF143 POLR3H HMGN2P10 DNAJB7 NAGA CYP2D8P CYP2D6 GC22M041869 PIR61091
GH22H041511 1.5 Ensembl ENCODE dbSUPER 24.6 +31.7 31726 2.6 PKNOX1 ZNF2 YY1 ZNF121 GLIS2 KLF7 ZNF548 ATF7 YY2 ZNF592 POLR3H EP300 PHF5A ENSG00000232754 XRCC6 RNU6-375P PIR38077 PIR57348
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POLR3H on UCSC Golden Path with GeneCards custom track

Promoters for POLR3H Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146639 506 1401 ATF1 ARID4B SIN3A BRCA1 ZNF2 YY1 ZNF121 ZNF766 GLIS2 ELK1

Genomic Locations for POLR3H Gene

Genomic Locations for POLR3H Gene
chr22:41,525,799-41,544,606
(GRCh38/hg38)
Size:
18,808 bases
Orientation:
Minus strand
chr22:41,921,803-41,940,610
(GRCh37/hg19)

Genomic View for POLR3H Gene

Genes around POLR3H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR3H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR3H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR3H Gene

Proteins for POLR3H Gene

  • Protein details for POLR3H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y535-RPC8_HUMAN
    Recommended name:
    DNA-directed RNA polymerase III subunit RPC8
    Protein Accession:
    Q9Y535
    Secondary Accessions:
    • B0QYH9
    • Q5M7Y8
    • Q96AE3
    • Q9BY95

    Protein attributes for POLR3H Gene

    Size:
    204 amino acids
    Molecular mass:
    22918 Da
    Quaternary structure:
    • Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits (By similarity). Interacts with CRCP/RPC9. POLR3H/RPC8 and CRCP/RPC9 probably form a Pol III subcomplex.
    SequenceCaution:
    • Sequence=BAB33335.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for POLR3H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLR3H Gene

Post-translational modifications for POLR3H Gene

No Post-translational modifications

No data available for DME Specific Peptides for POLR3H Gene

Domains & Families for POLR3H Gene

Gene Families for POLR3H Gene

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

Suggested Antigen Peptide Sequences for POLR3H Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y535

UniProtKB/Swiss-Prot:

RPC8_HUMAN :
  • Belongs to the eukaryotic RPB7/RPC8 RNA polymerase subunit family.
Family:
  • Belongs to the eukaryotic RPB7/RPC8 RNA polymerase subunit family.
genes like me logo Genes that share domains with POLR3H: view

Function for POLR3H Gene

Molecular function for POLR3H Gene

UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity).

Phenotypes From GWAS Catalog for POLR3H Gene

Gene Ontology (GO) - Molecular Function for POLR3H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001056 contributes_to RNA polymerase III activity IBA --
GO:0003677 DNA binding IEA --
GO:0003899 DNA-directed 5-3 RNA polymerase activity IDA 12391170
genes like me logo Genes that share ontologies with POLR3H: view
genes like me logo Genes that share phenotypes with POLR3H: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POLR3H Gene

Localization for POLR3H Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR3H Gene

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 POLR3H gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Nucleoplasm (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLR3H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005666 DNA-directed RNA polymerase III complex IDA 12391170
GO:0005813 centrosome IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with POLR3H: view

Pathways & Interactions for POLR3H Gene

genes like me logo Genes that share pathways with POLR3H: view

Gene Ontology (GO) - Biological Process for POLR3H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006139 nucleobase-containing compound metabolic process IDA 12391170
GO:0006351 transcription, DNA-templated IEA --
GO:0006383 transcription from RNA polymerase III promoter IDA 12391170
GO:0006384 transcription initiation from RNA polymerase III promoter IBA --
genes like me logo Genes that share ontologies with POLR3H: view

No data available for SIGNOR curated interactions for POLR3H Gene

Drugs & Compounds for POLR3H Gene

(5) Drugs for POLR3H Gene - From: HMDB

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 Pharma 0
ATP Nutra Agonist 0

(1) Additional Compounds for POLR3H Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with POLR3H: view

Transcripts for POLR3H Gene

Unigene Clusters for POLR3H Gene

Polymerase (RNA) III (DNA directed) polypeptide H (22.9kD):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLR3H Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c
SP1: - - - - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - -

Relevant External Links for POLR3H Gene

GeneLoc Exon Structure for
POLR3H
ECgene alternative splicing isoforms for
POLR3H

Expression for POLR3H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POLR3H Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLR3H Gene

This gene is overexpressed in Heart (42.0) and Testis (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for POLR3H Gene



NURSA nuclear receptor signaling pathways regulating expression of POLR3H Gene:

POLR3H

SOURCE GeneReport for Unigene cluster for POLR3H Gene:

Hs.712617

Evidence on tissue expression from TISSUES for POLR3H Gene

  • Nervous system(4.9)
  • Skin(2.8)
genes like me logo Genes that share expression patterns with POLR3H: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLR3H Gene

Orthologs for POLR3H Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLR3H Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLR3H 33 34
  • 99.51 (n)
oppossum
(Monodelphis domestica)
Mammalia POLR3H 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLR3H 33 34
  • 92.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Polr3h 33
  • 89.71 (n)
mouse
(Mus musculus)
Mammalia Polr3h 33 16 34
  • 89.54 (n)
cow
(Bos Taurus)
Mammalia POLR3H 33 34
  • 88.56 (n)
chicken
(Gallus gallus)
Aves POLR3H 33 34
  • 81.37 (n)
lizard
(Anolis carolinensis)
Reptilia POLR3H 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polr3h 33
  • 77.29 (n)
zebrafish
(Danio rerio)
Actinopterygii polr3h 34 33
  • 75.7 (n)
OneToOne
Dr.13091 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5767 33
fruit fly
(Drosophila melanogaster)
Insecta CG7339 33 34
  • 62.96 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012122 33
  • 62.58 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK856.10 33
  • 47.86 (n)
rpc-25 34
  • 33 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR049W 33
  • 52.19 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13751g 33
  • 50.34 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPC25 33 34 36
  • 49.16 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G06790 33
  • 49.21 (n)
rice
(Oryza sativa)
Liliopsida Os07g0477000 33
  • 51.68 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 69 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpc25 33
  • 53 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2134 33
Species where no ortholog for POLR3H was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POLR3H Gene

ENSEMBL:
Gene Tree for POLR3H (if available)
TreeFam:
Gene Tree for POLR3H (if available)

Paralogs for POLR3H Gene

No data available for Paralogs for POLR3H Gene

Variants for POLR3H Gene

Sequence variations from dbSNP and Humsavar for POLR3H Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs752034900 Pathogenic 41,527,315(+) TGATC(A/G)GAGAC reference, missense, utr-variant-3-prime
rs786204829 Pathogenic 41,528,022(+) GGCAA(C/G)GTTAG reference, missense, utr-variant-3-prime
rs786204830 Pathogenic 41,528,598(+) ATGAA(-/GGAA)CTGCA downstream-variant-500B, reference, utr-variant-3-prime, frameshift-variant
rs375761361 Likely pathogenic 41,527,949(+) TGACC(C/G/T)GGCTG reference, missense, utr-variant-3-prime
rs863223881 Likely pathogenic 41,526,302(+) TGCTG(A/G)CCCCT reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for POLR3H Gene

Variant ID Type Subtype PubMed ID
nsv834208 CNV loss 17160897
nsv524585 CNV loss 19592680
nsv516925 CNV loss 19592680
nsv1055166 CNV gain 25217958
esv3647799 CNV gain 21293372

Variation tolerance for POLR3H Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLR3H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR3H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR3H Gene

Disorders for POLR3H Gene

Relevant External Links for POLR3H

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLR3H

No disorders were found for POLR3H Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for POLR3H Gene

Publications for POLR3H Gene

  1. Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits. (PMID: 12391170) Hu P … Hernandez N (Molecular and cellular biology 2002) 2 3 4 60
  2. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PMID: 11258795) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 60
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 60
  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 60
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 60

Products for POLR3H Gene

Sources for POLR3H Gene

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