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Aliases for POLR3A Gene

Aliases for POLR3A Gene

  • Polymerase (RNA) III Subunit A 2 3
  • Polymerase (RNA) III (DNA Directed) Polypeptide A, 155kDa 2 3 5
  • 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
  • RPC155 3 4
  • RNA Polymerase III Subunit RPC155-D 3
  • HRPC155 3
  • ADDH 3
  • HLD7 3
  • RPC1 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 Subunit A) 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 RNA Polymerase III Transcription Initiation and Gene Expression. GO annotations related to this gene include chromatin binding and RNA polymerase III activity. An important paralog of this gene is POLR2A.

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

Enhancers for POLR3A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around POLR3A on UCSC Golden Path with GeneCards custom track

Promoters for POLR3A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POLR3A on UCSC Golden Path with GeneCards custom track

Genomic Location for POLR3A Gene

Chromosome:
10
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

Genes around POLR3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 228, Lys 406, Lys 1013, and Lys 1242
  • Modification sites at PhosphoSitePlus

Other Protein References for POLR3A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Domains & Families for POLR3A Gene

Gene Families for POLR3A Gene

Suggested Antigen Peptide Sequences for POLR3A Gene

Graphical View of Domain Structure for InterPro Entry

O14802

UniProtKB/Swiss-Prot:

RPC1_HUMAN :
  • Belongs to the RNA polymerase beta chain family.
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:0003677 DNA binding IEA --
GO:0003899 DNA-directed RNA polymerase activity IEA,NAS 9331371
genes like me logo Genes that share ontologies with POLR3A: view
genes like me logo Genes that share phenotypes with POLR3A: view

Human Phenotype Ontology for POLR3A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for POLR3A Gene

miRTarBase miRNAs that target POLR3A

No data available for Animal Models , Transcription Factor Targets 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
cytosol 4

Gene Ontology (GO) - Cellular Components for POLR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with POLR3A: view

Pathways & Interactions for POLR3A Gene

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

Pathways by source for POLR3A Gene

Gene Ontology (GO) - Biological Process for POLR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA,NAS 9331371
GO:0032481 positive regulation of type I interferon production TAS --
GO:0032728 positive regulation of interferon-beta production IMP 19609254
GO:0045087 innate immune response IMP,TAS 19609254
GO:0051607 defense response to virus IEA --
genes like me logo Genes that share ontologies with POLR3A: view

No data available for SIGNOR curated interactions for POLR3A Gene

Drugs & Compounds for POLR3A Gene

(5) Drugs for POLR3A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Cytidine triphosphate Experimental Pharma 0
Diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Uridine triphosphate Experimental Pharma 0

(2) Additional Compounds for POLR3A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
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:

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

Protein differential expression in normal tissues from HIPED for POLR3A Gene

This gene is overexpressed in Monocytes (18.5) and Plasma (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with POLR3A: view

Protein tissue co-expression partners for POLR3A Gene

- Elite partner

Primer 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
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
chimpanzee
(Pan troglodytes)
Mammalia POLR3A 35
  • 97.8 (n)
  • 97.39 (a)
POLR3A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polr3a 35
  • 89.26 (n)
  • 97.99 (a)
oppossum
(Monodelphis domestica)
Mammalia POLR3A 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLR3A 36
  • 97 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia polr3a 35
  • 77.59 (n)
  • 92.44 (a)
Str.17521 35
African clawed frog
(Xenopus laevis)
Amphibia rpc155-prov 35
zebrafish
(Danio rerio)
Actinopterygii polr3a 35
  • 77.57 (n)
  • 90.27 (a)
polr3a 36
  • 90 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5146 35
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)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E21253g 35
  • 54.13 (n)
  • 53.96 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPO31 35
  • 54.26 (n)
  • 54.04 (a)
RPO31 36
  • 50 (a)
OneToMany
RPO31 38
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

Paralogs for POLR3A Gene

(1) SIMAP similar genes for POLR3A Gene using alignment to 3 proteins:

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

Variants for POLR3A Gene

Sequence variations from dbSNP and Humsavar for POLR3A Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs34588967 - 78,009,889(+) GGAGG(A/C/T)GAACT reference, missense
rs35354908 - 78,004,824(+) TCATA(C/G)TTGGC reference, missense
VAR_066516 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
VAR_066517 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)
VAR_066518 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)

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

Variation tolerance for POLR3A Gene

Residual Variation Intolerance Score: 1.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.26; 52.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLR3A Gene

Human Gene Mutation Database (HGMD)
POLR3A

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

Disorders for POLR3A Gene

MalaCards: The human disease database

(9) MalaCards diseases for POLR3A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
  • attention deficit hyperactivity disorder
pol iii-related leukodystrophies
  • leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
hypomyelinating leukoencephalopathy
leukodystrophy
  • leukodystrophies
cyclothymic disorder
  • affective personality disorder
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for POLR3A

Genetic Association Database (GAD)
POLR3A
Human Genome Epidemiology (HuGE) Navigator
POLR3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLR3A
genes like me logo Genes that share disorders with POLR3A: view

No data available for Genatlas for POLR3A Gene

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 67
  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
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. POLR3A and POLR3B Mutations in Unclassified Hypomyelination. (PMID: 26011300) Cayami F.K. … Wolf N.I. (Neuropediatrics 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for POLR3A Gene

Sources for POLR3A Gene

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