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 RPC8 3 4
  • 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
  • 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. Diseases associated with POLR3H include 46,Xx Sex Reversal 1 and Infantile Cerebellar-Retinal Degeneration. Among its related pathways are RNA Polymerase III Transcription Initiation and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include DNA-directed 5'-3' RNA polymerase activity and RNA polymerase III activity. An important paralog of this gene is TWISTNB.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for POLR3H Gene

Genomics for POLR3H Gene

GeneHancer (GH) Regulatory Elements for POLR3H Gene

Promoters and enhancers for POLR3H 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 POLR3H on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLR3H

Top Transcription factor binding sites by QIAGEN in the POLR3H gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • NF-Y
  • RP58

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)
Size:
18,808 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for POLR3H Gene

Blocks:
  • RNA polymerase Rpb7, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POLR3H Gene

GenScript: Design optimal peptide antigens:
  • RNA polymerase III subunit 22.9 kDa subunit (RPC8_HUMAN)

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 21873635
GO:0003677 DNA binding IEA --
GO:0003899 DNA-directed 5'-3' RNA polymerase activity IBA,IDA 12391170
genes like me logo Genes that share ontologies with POLR3H: view
genes like me logo Genes that share phenotypes with POLR3H: view

Animal Model Products

CRISPR Products

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
nucleus 5
cytoskeleton 4
cytosol 4
mitochondrion 2
plasma membrane 1
extracellular 1

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 RNA polymerase III complex IDA,IBA 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

Pathways by source for POLR3H Gene

1 GeneGo (Thomson Reuters) pathway for POLR3H Gene
  • ATP/ITP metabolism
2 Qiagen pathways for POLR3H Gene
  • Assembly of RNA Polymerase-III Initiation Complex
  • Transcription of tRNA

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 by RNA polymerase III IDA 12391170
GO:0006384 transcription initiation from RNA polymerase III promoter IBA 21873635
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, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

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

Transcripts for POLR3H Gene

mRNA/cDNA for POLR3H Gene

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

CRISPR Products

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

Expression for POLR3H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for POLR3H Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.51 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLR3H 31
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLR3H 31 30
  • 92.16 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
OneToMany
-- 31
  • 56 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Polr3h 30
  • 89.71 (n)
mouse
(Mus musculus)
Mammalia Polr3h 17 31 30
  • 89.54 (n)
cow
(Bos Taurus)
Mammalia POLR3H 31 30
  • 88.56 (n)
OneToOne
chicken
(Gallus gallus)
Aves POLR3H 31 30
  • 81.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLR3H 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polr3h 30
  • 77.29 (n)
zebrafish
(Danio rerio)
Actinopterygii polr3h 31 30
  • 75.7 (n)
OneToOne
Dr.13091 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5767 30
fruit fly
(Drosophila melanogaster)
Insecta CG7339 31 30
  • 62.96 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012122 30
  • 62.58 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK856.10 30
  • 47.86 (n)
rpc-25 31
  • 33 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR049W 30
  • 52.19 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13751g 30
  • 50.34 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPC25 33 31 30
  • 49.16 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G06790 30
  • 49.21 (n)
rice
(Oryza sativa)
Liliopsida Os07g0477000 30
  • 51.68 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 69 (a)
OneToOne
Cin.2134 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpc25 30
  • 53 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2134 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for POLR3H: view image

Paralogs for POLR3H Gene

Paralogs for POLR3H Gene

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

Variants for POLR3H Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLR3H Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
673391 Likely Benign: not provided 41,527,003(-) T/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
675927 Likely Benign: not provided 41,527,256(-) G/C THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
677926 Benign: not provided 41,527,647(-) T/C THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
678098 Benign: not provided 41,527,640(-) G/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
680077 Likely Benign: not provided 41,527,117(-) C/T THREE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for POLR3H Gene

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

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

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)

Additional Variant Information 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

MalaCards: The human disease database

(4) MalaCards diseases for POLR3H Gene - From: Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POLR3H

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

No data available for 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 54
  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 54
  3. 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 54
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 54
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 54

Products for POLR3H Gene