Human Gene PLRG1 (ENST00000499023.7) from GENCODE V44
  Description: Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA. (from RefSeq NM_002669)
RefSeq Summary (NM_002669): This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011].
Gencode Transcript: ENST00000499023.7
Gencode Gene: ENSG00000171566.12
Transcript (Including UTRs)
   Position: hg38 chr4:154,535,005-154,550,400 Size: 15,396 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg38 chr4:154,536,685-154,550,308 Size: 13,624 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:154,535,005-154,550,400)mRNA (may differ from genome)Protein (514 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PLRG1_HUMAN
DESCRIPTION: RecName: Full=Pleiotropic regulator 1;
FUNCTION: Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing (By similarity).
SUBUNIT: Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts (via its WD40 repeat domain) directly with CDC5L (via its C-terminal); the interaction is required for mRNA splicing but not for spliceosome assembly. Also interacts directly in the complex with BCAS2 and PRPF19 (By similarity).
SUBCELLULAR LOCATION: Nucleus. Nucleus speckle.
SIMILARITY: Belongs to the WD repeat PRL1/PRL2 family.
SIMILARITY: Contains 7 WD repeats.

-  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: PLRG1
Diseases sorted by gene-association score: poikiloderma with neutropenia (2)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.29 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 630.89 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 -28.7092-0.312 Picture PostScript Text
3' UTR -406.801680-0.242 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
IPR020472 - G-protein_beta_WD-40_rep
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat

ModBase Predicted Comparative 3D Structure on O43660
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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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsembl  SGD
Protein SequenceProtein SequenceProtein Sequence  Protein Sequence
AlignmentAlignmentAlignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0034504 protein localization to nucleus
GO:1900087 positive regulation of G1/S transition of mitotic cell cycle

Cellular Component:
GO:0000974 Prp19 complex
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0016607 nuclear speck
GO:0031965 nuclear membrane
GO:0071007 U2-type catalytic step 2 spliceosome
GO:0071011 precatalytic spliceosome
GO:0071013 catalytic step 2 spliceosome
GO:0080008 Cul4-RING E3 ubiquitin ligase complex
GO:0005662 DNA replication factor A complex


-  Descriptions from all associated GenBank mRNAs
  BC036046 - Homo sapiens cDNA clone IMAGE:5273244, containing frame-shift errors.
LF206153 - JP 2014500723-A/13656: Polycomb-Associated Non-Coding RNAs.
MA441730 - JP 2018138019-A/13656: Polycomb-Associated Non-Coding RNAs.
BC106004 - Homo sapiens pleiotropic regulator 1 (PRL1 homolog, Arabidopsis), mRNA (cDNA clone MGC:110980 IMAGE:3889109), complete cds.
BC020786 - Homo sapiens pleiotropic regulator 1 (PRL1 homolog, Arabidopsis), mRNA (cDNA clone MGC:22797 IMAGE:4809482), complete cds.
AK002108 - Homo sapiens cDNA FLJ11246 fis, clone PLACE1008650, highly similar to Pleiotropic regulator 1.
AF044333 - Homo sapiens pleiotropic regulator 1 (PLRG1) mRNA, complete cds.
KJ901639 - Synthetic construct Homo sapiens clone ccsbBroadEn_11033 PLRG1 gene, encodes complete protein.
AB529024 - Synthetic construct DNA, clone: pF1KB3331, Homo sapiens PLRG1 gene for pleiotropic regulator 1, without stop codon, in Flexi system.
LF351991 - JP 2014500723-A/159494: Polycomb-Associated Non-Coding RNAs.
MA587568 - JP 2018138019-A/159494: Polycomb-Associated Non-Coding RNAs.
AK307997 - Homo sapiens cDNA, FLJ97945.
LF351988 - JP 2014500723-A/159491: Polycomb-Associated Non-Coding RNAs.
MA587565 - JP 2018138019-A/159491: Polycomb-Associated Non-Coding RNAs.
CU676718 - Synthetic construct Homo sapiens gateway clone IMAGE:100022278 5' read PLRG1 mRNA.
AK304574 - Homo sapiens cDNA FLJ57451 complete cds, highly similar to Pleiotropic regulator 1.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03040 - Spliceosome

Reactome (by CSHL, EBI, and GO)

Protein O43660 (Reactome details) participates in the following event(s):

R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: B3KMK4, ENST00000499023.1, ENST00000499023.2, ENST00000499023.3, ENST00000499023.4, ENST00000499023.5, ENST00000499023.6, NM_002669, O43660, PLRG1_HUMAN, Q3KQY5, Q8WUD8, uc003iny.1, uc003iny.2, uc003iny.3, uc003iny.4, uc003iny.5
UCSC ID: ENST00000499023.7
RefSeq Accession: NM_002669
Protein: O43660 (aka PLRG1_HUMAN or PLR1_HUMAN)
CCDS: CCDS34083.1, CCDS56341.1

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