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Aliases for PLRG1 Gene

Aliases for PLRG1 Gene

  • Pleiotropic Regulator 1 2 3 3 5
  • Pleiotropic Regulator 1 (PRL1 Homolog, Arabidopsis) 2 3
  • Transport And Golgi Organization 4 Homolog (Drosophila) 2
  • Pleiotropic Regulator 1 (PRL1, Arabidopsis Homolog) 2
  • Transport And Golgi Organization 4 Homolog 3
  • PRPF46 3
  • TANGO4 3
  • PRP46 3
  • Cwc1 3
  • PRL1 3

External Ids for PLRG1 Gene

Previous GeneCards Identifiers for PLRG1 Gene

  • GC04M156305
  • GC04M155846
  • GC04M155922
  • GC04M156033
  • GC04M156035
  • GC04M155815
  • GC04M155675
  • GC04M155457
  • GC04M151198

Summaries for PLRG1 Gene

Entrez Gene Summary for PLRG1 Gene

  • 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]

GeneCards Summary for PLRG1 Gene

PLRG1 (Pleiotropic Regulator 1) is a Protein Coding gene. Diseases associated with PLRG1 include Poikiloderma With Neutropenia. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and transcription corepressor activity. An important paralog of this gene is STRN3.

UniProtKB/Swiss-Prot for PLRG1 Gene

  • Involved in pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:28076346). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing (PubMed:11101529, PubMed:11544257).

Gene Wiki entry for PLRG1 Gene

Additional gene information for PLRG1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLRG1 Gene

Genomics for PLRG1 Gene

GeneHancer (GH) Regulatory Elements for PLRG1 Gene

Promoters and enhancers for PLRG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J154549 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 659.4 +0.2 193 1.9 SMAD1 ATF1 ARNT ARID4B SIN3A ZNF2 ZNF48 YY1 ETS1 GTF3C2 PLRG1 FGG LRAT RNU6-1285P GC04M154544
GH04J154553 Enhancer 0.7 ENCODE 650.7 -1.8 -1839 0.2 CTCF ATF1 NFATC3 TEAD4 MAX RAD21 SCRT2 ZNF143 SMC3 ZFP91 PLRG1 FGG LRAT LOC100422640
GH04J154506 Enhancer 0.7 ENCODE 21.1 +43.3 43267 1.4 CTCF FOXA2 ZNF140 RAD21 CTBP1 FOXK2 ARID2 FOSL2 FOS SMARCE1 PLRG1 RNU6-1285P LRAT FGA DCHS2 LOC100128050
GH04J154415 Enhancer 1.1 Ensembl ENCODE 13 +133.8 133796 2.4 PKNOX1 ATF1 SIN3A IRF4 YY1 RUNX3 RXRA REST MEF2D GMEB1 PLRG1 DCHS2 GC04M154435 LOC100419960
GH04J154559 Enhancer 1 ENCODE 11.6 -10.0 -10006 1.7 FOXA2 MLX ARID4B SIN3A ZNF48 ETS1 YY1 TCF12 ATF7 NFKBIZ FGG PLRG1 FGB LOC100422640
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLRG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLRG1 gene promoter:
  • NF-1
  • NF-1/L
  • NF-AT1
  • NF-AT
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for PLRG1 Gene

Genomic Locations for PLRG1 Gene
chr4:154,534,997-154,550,435
(GRCh38/hg38)
Size:
15,439 bases
Orientation:
Minus strand
chr4:155,456,149-155,471,587
(GRCh37/hg19)
Size:
15,439 bases
Orientation:
Minus strand

Genomic View for PLRG1 Gene

Genes around PLRG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLRG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLRG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLRG1 Gene

Proteins for PLRG1 Gene

  • Protein details for PLRG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43660-PLRG1_HUMAN
    Recommended name:
    Pleiotropic regulator 1
    Protein Accession:
    O43660
    Secondary Accessions:
    • B3KMK4
    • Q3KQY5
    • Q8WUD8

    Protein attributes for PLRG1 Gene

    Size:
    514 amino acids
    Molecular mass:
    57194 Da
    Quaternary structure:
    • Identified in the spliceosome C complex (PubMed:12176931, PubMed:28502770, PubMed:28076346). 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 (PubMed:11101529, PubMed:20176811). 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 (PubMed:11544257). Also interacts directly in the complex with BCAS2 and PRPF19 (PubMed:20176811).

    Three dimensional structures from OCA and Proteopedia for PLRG1 Gene

    Alternative splice isoforms for PLRG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLRG1 Gene

Post-translational modifications for PLRG1 Gene

  • Glycosylation at Thr97
  • Ubiquitination at isoforms=2396
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PLRG1 Gene

Domains & Families for PLRG1 Gene

Gene Families for PLRG1 Gene

Suggested Antigen Peptide Sequences for PLRG1 Gene

Graphical View of Domain Structure for InterPro Entry

O43660

UniProtKB/Swiss-Prot:

PLRG1_HUMAN :
  • Belongs to the WD repeat PRL1/PRL2 family.
Family:
  • Belongs to the WD repeat PRL1/PRL2 family.
genes like me logo Genes that share domains with PLRG1: view

Function for PLRG1 Gene

Molecular function for PLRG1 Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:28076346). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing (PubMed:11101529, PubMed:11544257).

Phenotypes From GWAS Catalog for PLRG1 Gene

Gene Ontology (GO) - Molecular Function for PLRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17353931
genes like me logo Genes that share ontologies with PLRG1: view
genes like me logo Genes that share phenotypes with PLRG1: view

Animal Models for PLRG1 Gene

MGI Knock Outs for PLRG1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLRG1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLRG1 Gene

Localization for PLRG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLRG1 Gene

Nucleus. Nucleus speckle.

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 PLRG1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000974 Prp19 complex IBA --
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA,IDA 28076346
GO:0005654 nucleoplasm TAS --
GO:0005662 colocalizes_with DNA replication factor A complex IDA 24332808
genes like me logo Genes that share ontologies with PLRG1: view

Pathways & Interactions for PLRG1 Gene

genes like me logo Genes that share pathways with PLRG1: view

Pathways by source for PLRG1 Gene

Gene Ontology (GO) - Biological Process for PLRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0034504 protein localization to nucleus IEA --
GO:1900087 positive regulation of G1/S transition of mitotic cell cycle IEA --
genes like me logo Genes that share ontologies with PLRG1: view

No data available for SIGNOR curated interactions for PLRG1 Gene

Drugs & Compounds for PLRG1 Gene

No Compound Related Data Available

Transcripts for PLRG1 Gene

mRNA/cDNA for PLRG1 Gene

Unigene Clusters for PLRG1 Gene

Pleiotropic regulator 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLRG1

Alternative Splicing Database (ASD) splice patterns (SP) for PLRG1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - -
SP4: - - - - - -
SP5: - -
SP6: - - -
SP7: - -
SP8:
SP9:
SP10:

ExUns: 14a · 14b ^ 15 ^ 16a · 16b ^ 17
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for PLRG1 Gene

GeneLoc Exon Structure for
PLRG1
ECgene alternative splicing isoforms for
PLRG1

Expression for PLRG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLRG1 Gene

Protein differential expression in normal tissues from HIPED for PLRG1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.5), CD8 Tcells (8.0), Liver (7.8), and Fetal ovary (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLRG1 Gene



Protein tissue co-expression partners for PLRG1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLRG1 Gene:

PLRG1

SOURCE GeneReport for Unigene cluster for PLRG1 Gene:

Hs.249996

Evidence on tissue expression from TISSUES for PLRG1 Gene

  • Nervous system(4.5)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with PLRG1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLRG1 Gene

Orthologs for PLRG1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLRG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLRG1 34 33
  • 99.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLRG1 34 33
  • 92.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLRG1 34 33
  • 91.6 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLRG1 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLRG1 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plrg1 33
  • 89.56 (n)
mouse
(Mus musculus)
Mammalia Plrg1 16 34 33
  • 88.95 (n)
chicken
(Gallus gallus)
Aves PLRG1 34 33
  • 80.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLRG1 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plrg1 33
  • 76.44 (n)
LOC394977 33
zebrafish
(Danio rerio)
Actinopterygii plrg1 34 33
  • 71.19 (n)
OneToOne
Dr.11443 33
fruit fly
(Drosophila melanogaster)
Insecta CG1796 35
  • 76 (a)
Tango4 34 33
  • 58.46 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005631 33
  • 58.28 (n)
worm
(Caenorhabditis elegans)
Secernentea tag-135 33
  • 60.09 (n)
plrg-1 34
  • 54 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP46 36 34 33
  • 56.27 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F11231g 33
  • 55.52 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR137W 33
  • 50.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PRL1 33
  • 54.75 (n)
rice
(Oryza sativa)
Liliopsida Os03g0339100 33
  • 57.81 (n)
Os.46775 33
wheat
(Triticum aestivum)
Liliopsida Ta.6105 33
corn
(Zea mays)
Liliopsida Zm.6454 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp5 33
  • 62.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10484 34
  • 61 (a)
OneToOne
Cin.7383 33
bread mold
(Neurospora crassa)
Ascomycetes NCU02966 33
  • 54.56 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7383 33
Species where no ortholog for PLRG1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for PLRG1 Gene

ENSEMBL:
Gene Tree for PLRG1 (if available)
TreeFam:
Gene Tree for PLRG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLRG1: view image

Paralogs for PLRG1 Gene

Paralogs for PLRG1 Gene

(10) SIMAP similar genes for PLRG1 Gene using alignment to 7 proteins:

  • PLRG1_HUMAN
  • A8MW61_HUMAN
  • B7Z982_HUMAN
  • D6RA26_HUMAN
  • D6RE04_HUMAN
  • H0YA24_HUMAN
  • H0YAA2_HUMAN
genes like me logo Genes that share paralogs with PLRG1: view

Variants for PLRG1 Gene

Sequence variations from dbSNP and Humsavar for PLRG1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000038094 -- 154,546,548(-) G/T intron_variant
rs1000055779 -- 154,552,179(-) G/A upstream_transcript_variant
rs1000320440 -- 154,542,686(-) G/C intron_variant
rs1000809974 -- 154,535,020(-) TTTATTT/TT 3_prime_UTR_variant
rs1000853349 -- 154,547,935(-) G/C intron_variant

Variation tolerance for PLRG1 Gene

Residual Variation Intolerance Score: 42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLRG1 Gene

Human Gene Mutation Database (HGMD)
PLRG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLRG1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PLRG1 Gene

Disorders for PLRG1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLRG1 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
poikiloderma with neutropenia
  • pn
- elite association - COSMIC cancer census association via MalaCards
Search PLRG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PLRG1

genes like me logo Genes that share disorders with PLRG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLRG1 Gene

Publications for PLRG1 Gene

  1. A direct interaction between the carboxyl-terminal region of CDC5L and the WD40 domain of PLRG1 is essential for pre-mRNA splicing. (PMID: 11544257) Ajuh P … Lamond AI (The Journal of biological chemistry 2001) 3 4 22 58
  2. Cryo-EM structure of a human spliceosome activated for step 2 of splicing. (PMID: 28076346) Bertram K … Lührmann R (Nature 2017) 3 4 58
  3. Direct interaction between hnRNP-M and CDC5L/PLRG1 proteins affects alternative splice site choice. (PMID: 20467437) Llères D … Lamond AI (EMBO reports 2010) 3 22 58
  4. Molecular architecture of the human Prp19/CDC5L complex. (PMID: 20176811) Grote M … Lührmann R (Molecular and cellular biology 2010) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for PLRG1 Gene

Sources for PLRG1 Gene

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