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Aliases for POLR3A Gene

Aliases for POLR3A Gene

  • Polymerase (RNA) III (DNA Directed) Polypeptide A, 155kDa 2 3
  • RPC155 3 4 6
  • DNA-Directed RNA Polymerase III Largest Subunit 3 4
  • DNA-Directed RNA Polymerase III Subunit A 3 4
  • RNA Polymerase III 155 KDa Subunit 3 4
  • RNA Polymerase III Subunit C160 3 4
  • RNA Polymerase III Subunit C1 3 4
  • EC 2.7.7.6 4 63
  • ADDH 3 6
  • HLD7 3 6
  • RPC1 3 6
  • DNA-Directed RNA Polymerase III Subunit RPC1 3
  • RNA Polymerase III Subunit RPC155-D 3
  • HRPC155 3

External Ids for POLR3A Gene

Previous GeneCards Identifiers for POLR3A Gene

  • GC10M079405
  • GC10M079729
  • GC10M073729

Summaries for POLR3A Gene

Entrez Gene Summary for POLR3A Gene

  • The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]

GeneCards Summary for POLR3A Gene

POLR3A (Polymerase (RNA) III (DNA Directed) Polypeptide A, 155kDa) is a Protein Coding gene. Diseases associated with POLR3A include leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism and pol iii-related leukodystrophies. Among its related pathways are Epstein-Barr virus infection and Metabolism. GO annotations related to this gene include chromatin binding and RNA polymerase III activity.

UniProtKB/Swiss-Prot for POLR3A Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Forms the polymerase active center together with the second largest subunit. A single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol III. A bridging helix emanates from RPC1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol III by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity). 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLR3A Gene

Genomics for POLR3A Gene

Regulatory Elements for POLR3A Gene

Genomic Location for POLR3A Gene

Start:
77,969,251 bp from pter
End:
78,029,545 bp from pter
Size:
60,295 bases
Orientation:
Minus strand

Genomic View for POLR3A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POLR3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR3A Gene

Proteins for POLR3A Gene

  • Protein details for POLR3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14802-RPC1_HUMAN
    Recommended name:
    DNA-directed RNA polymerase III subunit RPC1
    Protein Accession:
    O14802
    Secondary Accessions:
    • Q8IW34
    • Q8TCW5

    Protein attributes for POLR3A Gene

    Size:
    1390 amino acids
    Molecular mass:
    155641 Da
    Quaternary structure:
    • Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits.

neXtProt entry for POLR3A Gene

Proteomics data for POLR3A Gene at MOPED

Post-translational modifications for POLR3A Gene

  • Ubiquitination at Lys228, Lys406, Lys1013, and Lys1242
  • Modification sites at PhosphoSitePlus

Other Protein References for POLR3A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for POLR3A (POLR3A)

Domains for POLR3A Gene

Gene Families for POLR3A Gene

HGNC:
  • POLR :RNA polymerase subunits

Suggested Antigen Peptide Sequences for POLR3A Gene

Graphical View of Domain Structure for InterPro Entry

O14802

UniProtKB/Swiss-Prot:

RPC1_HUMAN :
  • O14802
Family:
  • Belongs to the RNA polymerase beta chain family.
genes like me logo Genes that share domains with POLR3A: view

Function for POLR3A Gene

Molecular function for POLR3A Gene

UniProtKB/Swiss-Prot CatalyticActivity: Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1)
UniProtKB/Swiss-Prot Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Forms the polymerase active center together with the second largest subunit. A single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol III. A bridging helix emanates from RPC1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol III by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity). 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.

Enzyme Numbers (IUBMB) for POLR3A Gene

Gene Ontology (GO) - Molecular Function for POLR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001056 contributes_to RNA polymerase III activity IBA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003899 DNA-directed RNA polymerase activity NAS 9331371
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with POLR3A: view

Phenotypes for POLR3A Gene

genes like me logo Genes that share phenotypes with POLR3A: view

Animal Model Products

CRISPR Products

miRNA for POLR3A Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for POLR3A Gene

Localization for POLR3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR3A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLR3A Gene COMPARTMENTS Subcellular localization image for POLR3A gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for POLR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005666 DNA-directed RNA polymerase III complex IDA 24107381
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with POLR3A: view

Pathways for POLR3A Gene

genes like me logo Genes that share pathways with POLR3A: view

Gene Ontology (GO) - Biological Process for POLR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated NAS 9331371
GO:0006383 transcription from RNA polymerase III promoter TAS --
GO:0006385 transcription elongation from RNA polymerase III promoter TAS --
GO:0006386 termination of RNA polymerase III transcription TAS --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with POLR3A: view

Compounds for POLR3A Gene

(7) HMDB Compounds for POLR3A Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Cytidine triphosphate
  • cytidine 5'-(tetrahydrogen triphosphate)
65-47-4
Guanosine triphosphate
  • 5'-GTP
86-01-1
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8
genes like me logo Genes that share compounds with POLR3A: view

Transcripts for POLR3A Gene

Unigene Clusters for POLR3A Gene

Polymerase (RNA) III (DNA directed) polypeptide A, 155kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POLR3A

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLR3A Gene

No ASD Table

Relevant External Links for POLR3A Gene

GeneLoc Exon Structure for
POLR3A
ECgene alternative splicing isoforms for
POLR3A

Expression for POLR3A Gene

mRNA expression in normal human tissues for POLR3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POLR3A Gene

SOURCE GeneReport for Unigene cluster for POLR3A Gene Hs.436896

mRNA Expression by UniProt/SwissProt for POLR3A Gene

O14802-RPC1_HUMAN
Tissue specificity: Expressed in the brain, in the cortex and the white matter (at protein level).
genes like me logo Genes that share expressions with POLR3A: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for POLR3A Gene

Orthologs for POLR3A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLR3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLR3A 35
  • 97.8 (n)
  • 97.39 (a)
POLR3A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POLR3A 35
  • 91.25 (n)
  • 98.42 (a)
POLR3A 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLR3A 35
  • 92.09 (n)
  • 98.85 (a)
POLR3A 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polr3a 35
  • 89.21 (n)
  • 97.99 (a)
Polr3a 16
Polr3a 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLR3A 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLR3A 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polr3a 35
  • 89.26 (n)
  • 97.99 (a)
chicken
(Gallus gallus)
Aves POLR3A 35
  • 81.8 (n)
  • 96.26 (a)
POLR3A 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLR3A 36
  • 93 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia rpc155-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia polr3a 35
  • 77.59 (n)
  • 92.44 (a)
Str.17521 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5146 35
zebrafish
(Danio rerio)
Actinopterygii polr3a 35
  • 77.57 (n)
  • 90.27 (a)
polr3a 36
  • 90 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004703 35
  • 59.91 (n)
  • 62.09 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17209 35
  • 59.38 (n)
  • 57.94 (a)
CG17209 36
  • 57 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rpc-1 35
  • 56.83 (n)
  • 58.36 (a)
rpc-1 36
  • 56 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER252C 35
  • 54.65 (n)
  • 53.42 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPO31 35
  • 54.26 (n)
  • 54.04 (a)
RPO31 36
  • 50 (a)
OneToMany
RPO31 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E21253g 35
  • 54.13 (n)
  • 53.96 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons NRPC1 35
  • 53.5 (n)
  • 50.76 (a)
rice
(Oryza sativa)
Liliopsida Os04g0492300 35
  • 53.64 (n)
  • 50.93 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03986 35
  • 55 (n)
  • 51.56 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpc1 35
  • 53.85 (n)
  • 53.26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 72 (a)
OneToOne
Species with no ortholog for POLR3A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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 POLR3A Gene

ENSEMBL:
Gene Tree for POLR3A (if available)
TreeFam:
Gene Tree for POLR3A (if available)

Paralogs for POLR3A Gene

Selected SIMAP similar genes for POLR3A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with POLR3A: view

No data available for Paralogs for POLR3A Gene

Variants for POLR3A Gene

Sequence variations from dbSNP and Humsavar for POLR3A Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs731505 -- 78,009,826(-) TGTGT(A/G)TATGT intron-variant
rs1469378 -- 77,983,572(+) CTGGG(C/T)GCTGG intron-variant
rs1469379 -- 77,983,907(+) TTTAA(C/T)TATGT intron-variant
rs1529425 -- 78,012,094(+) GTGCA(A/G)TGGCT intron-variant
rs1529426 -- 78,010,792(+) AATAT(C/T)AAGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POLR3A Gene

Variant ID Type Subtype PubMed ID
nsv7310 CNV Loss 18451855
nsv895736 CNV Gain 21882294
nsv7321 CNV Insertion 18451855
nsv7205 OTHER Inversion 18451855
esv2676466 CNV Deletion 23128226

Relevant External Links for POLR3A Gene

HapMap Linkage Disequilibrium report
POLR3A
Human Gene Mutation Database (HGMD)
POLR3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR3A Gene

Disorders for POLR3A Gene

(1) OMIM Diseases for POLR3A Gene (614258)

UniProtKB/Swiss-Prot

RPC1_HUMAN
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694]: An autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability. {ECO:0000269 PubMed:21855841, ECO:0000269 PubMed:22036171, ECO:0000269 PubMed:23355746, ECO:0000269 PubMed:23694757}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for POLR3A Gene

Relevant External Links for POLR3A

Genetic Association Database (GAD)
POLR3A
Human Genome Epidemiology (HuGE) Navigator
POLR3A
genes like me logo Genes that share disorders with POLR3A: view

Publications for POLR3A Gene

  1. Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits. (PMID: 12391170) Hu P. … Hernandez N. (Mol. Cell. Biol. 2002) 2 3 4
  2. The largest subunit of human RNA polymerase III is closely related to the largest subunit of yeast and trypanosome RNA polymerase III. (PMID: 9331371) Sepehri S. … Hernandez N. (Genome Res. 1997) 2 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  5. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. (PMID: 22036171) Saitsu H. … Matsumoto N. (Am. J. Hum. Genet. 2011) 3 4

Products for POLR3A Gene

Sources for POLR3A Gene

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