Human Gene POLR3B (ENST00000228347.9_4) from GENCODE V47lift37
  Description: RNA polymerase III subunit B, transcript variant 1 (from RefSeq NM_018082.6)
Gencode Transcript: ENST00000228347.9_4
Gencode Gene: ENSG00000013503.10_7
Transcript (Including UTRs)
   Position: hg19 chr12:106,751,526-106,903,976 Size: 152,451 Total Exon Count: 28 Strand: +
Coding Region
   Position: hg19 chr12:106,751,658-106,903,327 Size: 151,670 Coding Exon Count: 28 

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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 (chr12:106,751,526-106,903,976)mRNA (may differ from genome)Protein (1133 aa)
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UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RPC2_HUMAN
DESCRIPTION: RecName: Full=DNA-directed RNA polymerase III subunit RPC2; Short=RNA polymerase III subunit C2; EC=2.7.7.6; AltName: Full=C128; AltName: Full=DNA-directed RNA polymerase III 127.6 kDa polypeptide; AltName: Full=DNA-directed RNA polymerase III subunit B;
FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (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 (By similarity).
DISEASE: Defects in POLR3B are the cause of leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]. An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism.
SIMILARITY: Belongs to the RNA polymerase beta chain family.
SEQUENCE CAUTION: Sequence=BAA91527.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91581.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  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: POLR3B
Diseases sorted by gene-association score: leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism* (1232), pol iii-related leukodystrophies* (850), cerebellar hypoplasia with endosteal sclerosis* (400), leukodystrophy (22), hypomyelinating leukodystrophy (20), polr3-related leukodystrophy (18), hypomyelinating leukoencephalopathy (12), hypogonadism (7), treacher collins syndrome 1 (4), cerebral degeneration (1), tooth agenesis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 4.31 RPKM in Adrenal Gland
Total median expression: 110.51 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 -56.20132-0.426 Picture PostScript Text
3' UTR -146.30649-0.225 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
IPR015712 - DNA-dir_RNA_pol_su2
IPR007120 - DNA-dir_RNA_pol_su2_6
IPR007121 - RNA_pol_bsu_CS
IPR007644 - RNA_pol_bsu_protrusion
IPR007642 - RNA_pol_Rpb2_2
IPR007645 - RNA_pol_Rpb2_3
IPR007646 - RNA_pol_Rpb2_4
IPR007647 - RNA_pol_Rpb2_5
IPR007641 - RNA_pol_Rpb2_7
IPR014724 - RNA_pol_RPB2_OB-fold

Pfam Domains:
PF00562 - RNA polymerase Rpb2, domain 6
PF04560 - RNA polymerase Rpb2, domain 7
PF04561 - RNA polymerase Rpb2, domain 2
PF04563 - RNA polymerase beta subunit
PF04565 - RNA polymerase Rpb2, domain 3
PF04566 - RNA polymerase Rpb2, domain 4
PF04567 - RNA polymerase Rpb2, domain 5

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

ModBase Predicted Comparative 3D Structure on Q9NW08
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-  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 orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
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     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003899 DNA-directed 5'-3' RNA polymerase activity
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity
GO:0032549 ribonucleoside binding
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:0045089 positive regulation of 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


-  Descriptions from all associated GenBank mRNAs
  BX537447 - Homo sapiens mRNA; cDNA DKFZp686D10173 (from clone DKFZp686D10173).
BC046238 - Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B, mRNA (cDNA clone MGC:52435 IMAGE:4905794), complete cds.
AK291635 - Homo sapiens cDNA FLJ78662 complete cds, highly similar to Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B, mRNA.
AY092084 - Homo sapiens RNA polymerase III subunit RPC2 mRNA, complete cds.
AK122713 - Homo sapiens cDNA FLJ16205 fis, clone CTONG2019400, highly similar to DNA-directed RNA polymerase III subunit 127.6 kDa polypeptide (EC 2.7.7.6).
AK092031 - Homo sapiens cDNA FLJ34712 fis, clone MESAN2003852, highly similar to DNA-directed RNA polymerase III subunit 127.6 kDa polypeptide (EC 2.7.7.6).
AX747324 - Sequence 849 from Patent EP1308459.
JD201842 - Sequence 182866 from Patent EP1572962.
BC017501 - Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B, mRNA (cDNA clone IMAGE:4853407), partial cds.
AK090636 - Homo sapiens cDNA FLJ33317 fis, clone BNGH42007460, highly similar to DNA-directed RNA polymerase III subunit 127.6 kDa polypeptide (EC 2.7.7.6).
AX746551 - Sequence 76 from Patent EP1308459.
BC033724 - Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B, mRNA (cDNA clone IMAGE:4998794), partial cds.
CQ873758 - Sequence 177 from Patent WO2004076622.
DD413595 - Regulation of Mammalian Cells.
AK001250 - Homo sapiens cDNA FLJ10388 fis, clone NT2RM4000024, moderately similar to DNA-DIRECTED RNA POLYMERASE III 128 KD POLYPEPTIDE (EC 2.7.7.6).
AK001161 - Homo sapiens cDNA FLJ10299 fis, clone NT2RM2000013, moderately similar to DNA-DIRECTED RNA POLYMERASE III 128 KD POLYPEPTIDE (EC 2.7.7.6).
KJ818092 - Homo sapiens interphase nucleus and mitotic apparatus associated protein (INMAP) mRNA, complete cds.
BX648712 - Homo sapiens mRNA; cDNA DKFZp686B10117 (from clone DKFZp686B10117).
JD184486 - Sequence 165510 from Patent EP1572962.
JD172063 - Sequence 153087 from Patent EP1572962.
JD244542 - Sequence 225566 from Patent EP1572962.

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

Protein Q9NW08 (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: A8K6H0, B3KV73, ENST00000228347.1, ENST00000228347.2, ENST00000228347.3, ENST00000228347.4, ENST00000228347.5, ENST00000228347.6, ENST00000228347.7, ENST00000228347.8, F5H1E6, NM_018082, POLR3B , Q9NW08, Q9NW59, RPC2_HUMAN, uc317dnu.1, uc317dnu.2
UCSC ID: ENST00000228347.9_4
RefSeq Accession: NM_018082.6
Protein: Q9NW08 (aka RPC2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene POLR3B:
ataxias (Hereditary Ataxia Overview)
kms (Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency)
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.