Human Gene RNF20 (uc004bbn.3)
  Description: Homo sapiens ring finger protein 20, E3 ubiquitin protein ligase (RNF20), mRNA.
RefSeq Summary (NM_019592): The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This protein acts as a putative tumor suppressor and positively regulates the p53 tumor suppressor as well as numerous histone H2A and H2B genes. In contrast, this protein also suppresses the expression of several protooncogenes and growth-related genes, including many genes that are induced by epidermal growth factor. This gene selectively suppresses the expression of some genes by interfering with chromatin recruitment of transcription elongation factor SII (TFIIS). [provided by RefSeq, Feb 2012].
Transcript (Including UTRs)
   Position: hg19 chr9:104,296,133-104,325,626 Size: 29,494 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr9:104,297,706-104,324,704 Size: 26,999 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:104,296,133-104,325,626)mRNA (may differ from genome)Protein (975 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BRE1A_HUMAN
DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase BRE1A; Short=BRE1-A; Short=hBRE1; EC=6.3.2.-; AltName: Full=RING finger protein 20;
FUNCTION: Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role in histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradictory. Required for transcriptional activation of Hox genes. Recruited to the MDM2 promoter, probably by being recruited by p53/TP53, and thereby acts as a transcriptional coactivator.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Component of the RNF20/40 complex (also known as BRE1 complex) probably composed of 2 copies of RNF20/BRE1A and 2 copies of RNF40/BRE1B. Interacts with UBE2E1/UBCH6. Interacts with p53/TP53 and WAC. Interacts with PAF1; the interaction mediates the association of the PAF1 and RNF20/40 complexes which is a prerequsite for recruitment of UBE2A/B.
INTERACTION: O75150:RNF40; NbExp=10; IntAct=EBI-2372238, EBI-744408; P51965:UBE2E1; NbExp=2; IntAct=EBI-2372238, EBI-348546;
SUBCELLULAR LOCATION: Nucleus (Probable).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the BRE1 family.
SIMILARITY: Contains 1 RING-type zinc finger.
SEQUENCE CAUTION: Sequence=AAH63115.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA91326.1; Type=Erroneous initiation; Sequence=BAA92057.1; Type=Erroneous initiation; Sequence=BAB14005.1; Type=Erroneous initiation;

-  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


-  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: 16.84 RPKM in Testis
Total median expression: 535.92 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 -25.0090-0.278 Picture PostScript Text
3' UTR -248.67922-0.270 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
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00097 - Zinc finger, C3HC4 type (RING finger)
PF13920 - Zinc finger, C3HC4 type (RING finger)

SCOP Domains:
47655 - STAT
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q5VTR2
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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 orthologGenome BrowserNo orthologGenome BrowserGenome Browser
Gene Details   Gene DetailsGene Details
Gene Sorter   Gene SorterGene Sorter
  Ensembl WormBaseSGD
  Protein Sequence Protein SequenceProtein Sequence
  Alignment AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002039 p53 binding
GO:0003682 chromatin binding
GO:0003713 transcription coactivator activity
GO:0003730 mRNA 3'-UTR binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0031625 ubiquitin protein ligase binding
GO:0042393 histone binding
GO:0046872 metal ion binding

Biological Process:
GO:0000209 protein polyubiquitination
GO:0006325 chromatin organization
GO:0006355 regulation of transcription, DNA-templated
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0010390 histone monoubiquitination
GO:0016567 protein ubiquitination
GO:0016574 histone ubiquitination
GO:0030336 negative regulation of cell migration
GO:0031062 positive regulation of histone methylation
GO:0033523 histone H2B ubiquitination
GO:0045893 positive regulation of transcription, DNA-templated
GO:1900364 negative regulation of mRNA polyadenylation
GO:2001168 positive regulation of histone H2B ubiquitination
GO:0007346 regulation of mitotic cell cycle

Cellular Component:
GO:0000151 ubiquitin ligase complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0033503 HULC complex


-  Descriptions from all associated GenBank mRNAs
  AF265230 - Homo sapiens RING finger protein 20 (RNF20) mRNA, complete cds.
LP895613 - Sequence 477 from Patent EP3253886.
AK022532 - Homo sapiens cDNA FLJ12470 fis, clone NT2RM1000885, weakly similar to HYPOTHETICAL 97.1 KD PROTEIN R05D3.4 IN CHROMOSOME III.
BC110584 - Homo sapiens ring finger protein 20, mRNA (cDNA clone MGC:129667 IMAGE:40009044), complete cds.
BC110585 - Homo sapiens ring finger protein 20, mRNA (cDNA clone MGC:129668 IMAGE:40009047), complete cds.
BC152309 - Homo sapiens ring finger protein 20, mRNA (cDNA clone MGC:133065 IMAGE:40009034), complete cds.
BC016691 - Homo sapiens ring finger protein 20, mRNA (cDNA clone IMAGE:4106294), partial cds.
BC063115 - Homo sapiens ring finger protein 20, mRNA (cDNA clone IMAGE:30327678), partial cds.
AK314401 - Homo sapiens cDNA, FLJ95178, highly similar to Homo sapiens ring finger protein 20 (RNF20), mRNA.
JD048201 - Sequence 29225 from Patent EP1572962.
KJ894319 - Synthetic construct Homo sapiens clone ccsbBroadEn_03713 RNF20 gene, encodes complete protein.
AK000697 - Homo sapiens cDNA FLJ20690 fis, clone KAIA2769.
AK000389 - Homo sapiens cDNA FLJ20382 fis, clone KAIA2779.
BC032618 - Homo sapiens ring finger protein 20, mRNA (cDNA clone IMAGE:5577945), partial cds.
AK022300 - Homo sapiens cDNA FLJ12238 fis, clone MAMMA1001260, weakly similar to HYPOTHETICAL 97.1 KD PROTEIN R05D3.4 IN CHROMOSOME III.
AL834272 - Homo sapiens mRNA; cDNA DKFZp761H238 (from clone DKFZp761H238).
AK002051 - Homo sapiens cDNA FLJ11189 fis, clone PLACE1007547.
AL832910 - Homo sapiens mRNA; cDNA DKFZp762O1014 (from clone DKFZp762O1014).
JD468319 - Sequence 449343 from Patent EP1572962.
JD357769 - Sequence 338793 from Patent EP1572962.
JD288577 - Sequence 269601 from Patent EP1572962.
JD294823 - Sequence 275847 from Patent EP1572962.
JD397423 - Sequence 378447 from Patent EP1572962.
JD202384 - Sequence 183408 from Patent EP1572962.
JD315387 - Sequence 296411 from Patent EP1572962.
JD440401 - Sequence 421425 from Patent EP1572962.
JD495965 - Sequence 476989 from Patent EP1572962.

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

Protein Q5VTR2 (Reactome details) participates in the following event(s):

R-HSA-8942099 RNF20:RNF40 binds PAF complex, Ubiquitin:UBE2A,B (Ubiquitin:RAD6), WAC and Histone H2B
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-8852135 Protein ubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A7MCT5, BRE1A, BRE1A_HUMAN, NM_019592, NP_062538, Q2TB34, Q5VTR2, Q69YL5, Q6P527, Q8N3J4, Q96JD3, Q9H9Y7, Q9HA51, Q9NUR4, Q9NWQ3, Q9NX83
UCSC ID: uc004bbn.3
RefSeq Accession: NM_019592
Protein: Q5VTR2 (aka BRE1A_HUMAN)
CCDS: CCDS35084.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_019592.5
exon count: 20CDS single in 3' UTR: no RNA size: 3970
ORF size: 2928CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6056.00frame shift in genome: no % Coverage: 99.24
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.