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PLRG1 pleiotropic regulator 1 [ Homo sapiens (human) ]

Gene ID: 5356, updated on 7-Apr-2024

Summary

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Official Symbol
PLRG1provided by HGNC
Official Full Name
pleiotropic regulator 1provided by HGNC
Primary source
HGNC:HGNC:9089
See related
Ensembl:ENSG00000171566 MIM:605961; AllianceGenome:HGNC:9089
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Cwc1; PRL1; PRP46; PRPF46; TANGO4
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 15.5), brain (RPKM 13.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
4q31.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (154535005..154550400, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (157866774..157882170, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (155456157..155471552, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene dachsous cadherin-related 2 Neighboring gene kelch domain containing 4 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:155337853-155338354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:155410779-155411735 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:155411736-155412691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22077 Neighboring gene WDR77 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22079 Neighboring gene Sharpr-MPRA regulatory region 11496 Neighboring gene RNA, U6 small nuclear 1285, pseudogene Neighboring gene 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase pseudogene Neighboring gene fibrinogen beta chain

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Crystal structure of the WD40 domain of human PLRG1. Wang X, et al. Biochem Biophys Res Commun, 2021 Jan 1. PMID 33239170
  2. The Pso4 complex splices into the DNA damage response. Legerski RJ. Cell Cycle, 2009 Nov 1. PMID 19838058
  3. Identification of peptide inhibitors of pre-mRNA splicing derived from the essential interaction domains of CDC5L and PLRG1. Ajuh P, et al. Nucleic Acids Res, 2003 Nov 1. PMID 14576297, Free PMC Article
  4. A direct interaction between the carboxyl-terminal region of CDC5L and the WD40 domain of PLRG1 is essential for pre-mRNA splicing. Ajuh P, et al. J Biol Chem, 2001 Nov 9. PMID 11544257
  5. RNA Helicase DHX37 Facilitates Liver Cancer Progression by Cooperating with PLRG1 to Drive Superenhancer-Mediated Transcription of Cyclin D1. Liu Z, et al. Cancer Res, 2022 May 16. PMID 35290436, Free PMC Article

See all (124) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RNA Helicase DHX37 Facilitates Liver Cancer Progression by Cooperating with PLRG1 to Drive Superenhancer-Mediated Transcription of Cyclin D1.
    Title: RNA Helicase DHX37 Facilitates Liver Cancer Progression by Cooperating with PLRG1 to Drive Superenhancer-Mediated Transcription of Cyclin D1.
  2. Crystal structure of the WD40 domain of human PLRG1.
    Title: Crystal structure of the WD40 domain of human PLRG1.
  3. Study includes the isolation of a cDNA encoding the human PRL1 homolog.
    Title: Pleiotropic control of glucose and hormone responses by PRL1, a nuclear WD protein, in Arabidopsis.
  4. A central region in hnRNP-M is required for interaction with CDC5L/PLRG1.
    Title: Direct interaction between hnRNP-M and CDC5L/PLRG1 proteins affects alternative splice site choice.
  5. the interaction between CDC5L and PLRG1 is essential for pre-mRNA splicing
    Title: Identification of peptide inhibitors of pre-mRNA splicing derived from the essential interaction domains of CDC5L and PLRG1.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, pleiotropic regulator 1 (PLRG1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with PLRG1 is increased by RRE PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC110980

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mRNA splicing, via spliceosome IC
Inferred by Curator
more info
 PubMed 
involved_in mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mRNA splicing, via spliceosome NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to nucleus IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of DNA replication factor A complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of Prp19 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Prp19 complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of U2-type catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of catalytic step 2 spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
  
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of spliceosomal complex IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
pleiotropic regulator 1
Names
pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)
transport and golgi organization 4 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001201564.2 → NP_001188493.1  pleiotropic regulator 1 isoform 2

    See identical proteins and their annotated locations for NP_001188493.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC107385, AK002108, AW291931, BC020786, BP314297
    Consensus CDS
    CCDS56341.1
    UniProtKB/Swiss-Prot
    O43660
    Related
    ENSP00000303191.5, ENST00000302078.9
    Conserved Domains (2) summary
    cd00200
    Location:187 → 481
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:200 → 235
    7WD40; WD40 repeat [structural motif]

  2. NM_002669.4 → NP_002660.1  pleiotropic regulator 1 isoform 1

    See identical proteins and their annotated locations for NP_002660.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC107385, AW291931, BC106004, BP314297
    Consensus CDS
    CCDS34083.1
    UniProtKB/Swiss-Prot
    B3KMK4, O43660, Q3KQY5, Q8WUD8
    Related
    ENSP00000424417.1, ENST00000499023.7
    Conserved Domains (2) summary
    cd00200
    Location:196 → 490
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:209 → 244
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    154535005..154550400 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    157866774..157882170 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43660.1 GenPept UniProtKB/Swiss-Prot:O43660

Gene LinkOut

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Chemical Information
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