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] See more...

Aliases for POLR3A Gene

Aliases for POLR3A Gene

  • RNA Polymerase III Subunit A 2 3 5
  • Polymerase (RNA) III (DNA Directed) Polypeptide A, 155kDa 2 3
  • DNA-Directed RNA Polymerase III Largest Subunit 3 4
  • DNA-Directed RNA Polymerase III Subunit RPC1 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 54
  • RPC155 3 4
  • RNA Polymerase III Subunit RPC155-D 3
  • Polymerase (RNA) III Subunit A 3
  • HRPC155 3
  • WDRTS 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 (RNA Polymerase 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 Wiedemann-Rautenstrauch Syndrome. Among its related pathways are RNA Polymerase III Transcription Initiation and Transcription of tRNA. Gene Ontology (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 Summary 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.

Additional gene information for POLR3A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLR3A Gene

Genomics for POLR3A Gene

GeneHancer (GH) Regulatory Elements for POLR3A Gene

Promoters and enhancers for POLR3A 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 POLR3A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POLR3A gene promoter:
  • AML1a
  • C/EBPbeta
  • CUTL1
  • Egr-1
  • FOXD1
  • Ik-3
  • Nkx6-1
  • Pax-4a
  • POU3F2
  • RORalpha1

Genomic Locations for POLR3A Gene

Genomic Locations for POLR3A Gene
chr10:77,969,251-78,029,540
(GRCh38/hg38)
Size:
60,290 bases
Orientation:
Minus strand
chr10:79,734,907-79,789,303
(GRCh37/hg19)
Size:
54,397 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

Selected DME Specific Peptides for POLR3A Gene

O14802:
  • NLSGKRV
  • GEPGTQMT
  • LGIEAAR
  • LASFEKT
  • SGTNEDDLTMKL
  • RFNECVC
  • QMIACVGQQ
  • MAGREGL
  • NNIFYIL
  • AQSIGEP
  • GYMQRRL
  • GKRVDFS
  • DFDGDEMN
  • TLGVPRIKEIINA
  • GREGLVD
  • LFNRQPSLH
  • ILQMICK
  • NADFDGD
  • MTYKGEVLGITRFGL
  • GVSECII
  • YGGDGLDP

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:
REFSEQ proteins:

Domains & Families for POLR3A Gene

Gene Families for POLR3A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for POLR3A Gene

GenScript: Design optimal peptide antigens:
  • DNA-directed RNA polymerase (F5H7E9_HUMAN)
  • RNA polymerase III subunit C160 (RPC1_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1); Xref=Rhea:RHEA:21248, Rhea:RHEA-COMP:11128, Rhea:RHEA-COMP:11129, ChEBI:CHEBI:33019, ChEBI:CHEBI:61557, ChEBI:CHEBI:83400; EC=2.7.7.6;.

Enzyme Numbers (IUBMB) for POLR3A Gene

Phenotypes From GWAS Catalog 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 21873635
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003899 DNA-directed 5'-3' RNA polymerase activity NAS,IEA 9331371
GO:0016740 transferase activity IEA --
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

CRISPR Products

miRNA for POLR3A Gene

miRTarBase miRNAs that target POLR3A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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 POLR3A gene
Compartment Confidence
nucleus 5
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POLR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005666 RNA polymerase III complex IDA 24107381
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
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

2 Qiagen pathways for POLR3A Gene
  • Assembly of RNA Polymerase-III Initiation Complex
  • Transcription of tRNA
1 Cell Signaling Technology pathway for POLR3A Gene

Gene Ontology (GO) - Biological Process for POLR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006351 transcription, DNA-templated NAS,IEA 9331371
GO:0006383 transcription by RNA polymerase III IEA --
GO:0032481 positive regulation of type I interferon production TAS --
GO:0032728 positive regulation of interferon-beta production IMP 19609254
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
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

(2) Additional Compounds for POLR3A 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
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • Deoxy-TTP
  • Deoxythymidine 5'-triphosphate
  • Deoxythymidine triphosphate
365-08-2
genes like me logo Genes that share compounds with POLR3A: view

Transcripts for POLR3A Gene

mRNA/cDNA for POLR3A Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR3A

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for POLR3A Gene



Protein tissue co-expression partners for POLR3A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POLR3A Gene:

POLR3A

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).

Evidence on tissue expression from TISSUES for POLR3A Gene

  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POLR3A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • pharynx
  • pituitary gland
  • salivary gland
  • skull
  • tooth
Thorax:
  • breast
  • esophagus
Abdomen:
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • foot
  • lower limb
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with POLR3A: view

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 33 32
  • 97.8 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLR3A 33
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLR3A 33
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLR3A 33 32
  • 92.09 (n)
OneToOne
cow
(Bos Taurus)
Mammalia POLR3A 33 32
  • 91.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polr3a 32
  • 89.26 (n)
mouse
(Mus musculus)
Mammalia Polr3a 17 33 32
  • 89.21 (n)
chicken
(Gallus gallus)
Aves POLR3A 33 32
  • 81.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLR3A 33
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polr3a 32
  • 77.59 (n)
Str.17521 32
African clawed frog
(Xenopus laevis)
Amphibia rpc155-prov 32
zebrafish
(Danio rerio)
Actinopterygii polr3a 33 32
  • 77.57 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5146 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004703 32
  • 59.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17209 33 32
  • 59.38 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rpc-1 33 32
  • 56.83 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER252C 32
  • 54.65 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPO31 35 33 32
  • 54.26 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E21253g 32
  • 54.13 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NRPC1 32
  • 53.5 (n)
rice
(Oryza sativa)
Liliopsida Os04g0492300 32
  • 53.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 72 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03986 32
  • 55 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpc1 32
  • 53.85 (n)
Species where no ortholog for POLR3A was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for POLR3A: view image

Paralogs for POLR3A Gene

Paralogs for POLR3A Gene

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

  • RPC1_HUMAN
  • Q7Z755_HUMAN
  • R4GMX2_HUMAN
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 Variation AA Info Type
rs1041175828 pathogenic, Neonatal pseudo-hydrocephalic progeroid syndrome 77,984,013(-) C/G/T splice_acceptor_variant
rs10509396 benign, Pol III-related leukodystrophy 77,982,642(-) T/G intron_variant
rs11002351 likely-benign, Pol III-related leukodystrophy 77,975,625(-) G/A 3_prime_UTR_variant
rs112788477 uncertain-significance, Pol III-related leukodystrophy 77,980,163(-) G/A/T coding_sequence_variant, missense_variant, synonymous_variant
rs113075575 uncertain-significance, Pol III-related leukodystrophy 77,976,595(-) A/T 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
esv2676466 CNV deletion 23128226
nsv471824 CNV novel sequence insertion 20440878
nsv473559 CNV novel sequence insertion 20440878
nsv7205 OTHER inversion 18451855
nsv7310 CNV deletion 18451855
nsv7321 CNV insertion 18451855

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)

Additional Variant Information for POLR3A Gene

Human Gene Mutation Database (HGMD)
POLR3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR3A

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

Disorders for POLR3A Gene

MalaCards: The human disease database

(17) MalaCards diseases for POLR3A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for POLR3A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Molecular and cellular biology 2002) 2 3 4 56
  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 research 1997) 2 3 4 56
  3. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. (PMID: 23355746) Daoud H … Bernard G (Journal of medical genetics 2013) 3 4 56
  4. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. (PMID: 22036171) Saitsu H … Matsumoto N (American journal of human genetics 2011) 3 4 56
  5. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. (PMID: 21855841) Bernard G … Brais B (American journal of human genetics 2011) 3 4 56

Products for POLR3A Gene

Sources for POLR3A Gene