Human Gene POLR3A (ENST00000372371.8_8) from GENCODE V47lift37
  Description: RNA polymerase III subunit A (from RefSeq NM_007055.4)
Gencode Transcript: ENST00000372371.8_8
Gencode Gene: ENSG00000148606.15_12
Transcript (Including UTRs)
   Position: hg19 chr10:79,734,907-79,789,273 Size: 54,367 Total Exon Count: 31 Strand: -
Coding Region
   Position: hg19 chr10:79,737,236-79,789,165 Size: 51,930 Coding Exon Count: 31 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:79,734,907-79,789,273)mRNA (may differ from genome)Protein (1390 aa)
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UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RPC1_HUMAN
DESCRIPTION: RecName: Full=DNA-directed RNA polymerase III subunit RPC1; Short=RNA polymerase III subunit C1; EC=2.7.7.6; AltName: Full=DNA-directed RNA polymerase III largest subunit; AltName: Full=DNA-directed RNA polymerase III subunit A; AltName: Full=RNA polymerase III 155 kDa subunit; Short=RPC155; AltName: Full=RNA polymerase III subunit C160;
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.
CATALYTIC ACTIVITY: Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1).
SUBUNIT: Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits (By similarity).
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in the brain, in the cortex and the white matter (at protein level).
DISEASE: Defects in POLR3A are the cause of leukodystrophy hypomyelinating type 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.
SIMILARITY: Belongs to the RNA polymerase beta' chain family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: POLR3A
Diseases sorted by gene-association score: leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism* (1590), pol iii-related leukodystrophies* (318), hypomyelinating leukoencephalopathy (14), leukodystrophy (13), leukodystrophy, hypomyelinating, 3 (11), hypogonadotropic hypogonadism (11), hypomyelinating leukodystrophy (10), hypogonadism (7), specific developmental disorder (5), conduct disorder (5), tooth agenesis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.55 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 189.52 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -37.30108-0.345 Picture PostScript Text
3' UTR -781.802329-0.336 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000722 - RNA_pol_asu
IPR015700 - RNA_pol_III_lsu
IPR006592 - RNA_pol_N
IPR007080 - RNA_pol_Rpb1_1
IPR007066 - RNA_pol_Rpb1_3
IPR007083 - RNA_pol_Rpb1_4
IPR007081 - RNA_pol_Rpb1_5

Pfam Domains:
PF00623 - RNA polymerase Rpb1, domain 2
PF04983 - RNA polymerase Rpb1, domain 3
PF04997 - RNA polymerase Rpb1, domain 1
PF04998 - RNA polymerase Rpb1, domain 5
PF05000 - RNA polymerase Rpb1, domain 4

SCOP Domains:
64484 - beta and beta-prime subunits of DNA dependent RNA-polymerase

ModBase Predicted Comparative 3D Structure on O14802
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
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 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003899 DNA-directed 5'-3' RNA polymerase activity
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity
GO:0046872 metal ion binding
GO:0001056 RNA polymerase III activity

Biological Process:
GO:0002376 immune system process
GO:0006351 transcription, DNA-templated
GO:0006383 transcription from RNA polymerase III promoter
GO:0032728 positive regulation of interferon-beta production
GO:0045087 innate immune response
GO:0051607 defense response to virus

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005666 DNA-directed RNA polymerase III complex
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC014399 - Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa, mRNA (cDNA clone IMAGE:3356934), complete cds.
AK024744 - Homo sapiens cDNA: FLJ21091 fis, clone CAS03642.
JD112287 - Sequence 93311 from Patent EP1572962.
JD216160 - Sequence 197184 from Patent EP1572962.
BC041089 - Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa, mRNA (cDNA clone MGC:45186 IMAGE:3915501), complete cds.
AK300329 - Homo sapiens cDNA FLJ61707 complete cds, highly similar to DNA-directed RNA polymerase III largest subunit (EC 2.7.7.6).
AK026023 - Homo sapiens cDNA: FLJ22370 fis, clone HRC06677, highly similar to AF021351 Homo sapiens RNA polymerase III largest subunit (hRPC155) mRNA.
AY091462 - Homo sapiens RNA polymerase III subunit RPC155-D mRNA, partial cds.
AF021351 - Homo sapiens RNA polymerase III largest subunit (hRPC155) mRNA, complete cds.
AB384941 - Synthetic construct DNA, clone: pF1KB4393, Homo sapiens POLR3A gene for DNA-directed RNA polymerase III subunit RPC1, complete cds, without stop codon, in Flexi system.
AY091461 - Homo sapiens RNA polymerase III subunit RPC155-C mRNA, partial cds.
AY091460 - Homo sapiens RNA polymerase III subunit RPC155-B mRNA, partial cds.
AY091459 - Homo sapiens RNA polymerase III subunit RPC155-A mRNA, partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O14802 (Reactome details) participates in the following event(s):

R-HSA-76056 Recruitment of RNA polymerase III to TFIIIB:TFIIIC:TFIIIA:Type 1 Promoter Complex
R-HSA-83803 Recruitment of RNA Polymerase III to TFIIIB:SNAPc:Type 3 Promoter Complex
R-HSA-83805 Recruitment of RNA Polymerase III to the TFIIIB:TFIIIC: Type 2 Promoter Complex
R-HSA-113454 RNA Polymerase III Termination and release of transcribed RNA
R-HSA-76060 RNA Polymerase III Promoter Opening at Type 1 Promoters
R-HSA-112150 RNA Polymerase III Promoter Opening at Type 2 Promoters
R-HSA-112152 RNA Polymerase III Promoter Opening at Type 3 Promoters
R-HSA-112055 RNA Polymerase III Abortive Initiation At Type 1 Open Promoters
R-HSA-112153 RNA Polymerase III Simple Start Sequence Initiation At Type 1 Promoters
R-HSA-112149 RNA Polymerase III Abortive Initiation At Type 2 Open Promoters
R-HSA-112155 RNA Polymerase III Simple Start Sequence Initiation At Type 2 Promoters
R-HSA-112054 RNA Polymerase III Abortive Initiation At Type 3 Open Promoters
R-HSA-112156 RNA Polymerase III Simple Start Sequence Initiation At Type 3 Promoters
R-HSA-113442 RNA Polymerase III Retractive RNase Activity at U-tract Pause Sites
R-HSA-113446 Initiation of RNA Polymerase III Productive Transcription
R-HSA-113449 RNA Polymerase III Transcriptional Pause at Terminator Sequence
R-HSA-113451 Resumption of RNA Polymerase III Productive Transcription
R-HSA-113705 RNA Polymerase III Productive Transcription
R-HSA-76061 RNA Polymerase III Transcription Initiation From Type 1 Promoter
R-HSA-76071 RNA Polymerase III Transcription Initiation From Type 3 Promoter
R-HSA-76066 RNA Polymerase III Transcription Initiation From Type 2 Promoter
R-HSA-73980 RNA Polymerase III Transcription Termination
R-HSA-749476 RNA Polymerase III Abortive And Retractive Initiation
R-HSA-73780 RNA Polymerase III Chain Elongation
R-HSA-76046 RNA Polymerase III Transcription Initiation
R-HSA-74158 RNA Polymerase III Transcription
R-HSA-1834949 Cytosolic sensors of pathogen-associated DNA
R-HSA-74160 Gene expression (Transcription)
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000372371.1, ENST00000372371.2, ENST00000372371.3, ENST00000372371.4, ENST00000372371.5, ENST00000372371.6, ENST00000372371.7, NM_007055, O14802, POLR3A , Q8IW34, Q8TCW5, RPC1_HUMAN, uc318jwb.1, uc318jwb.2
UCSC ID: ENST00000372371.8_8
RefSeq Accession: NM_007055.4
Protein: O14802 (aka RPC1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene POLR3A:
ataxias (Hereditary Ataxia Overview)
pol3-leuk (POLR3-Related Leukodystrophy)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.