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    PLRG1 pleiotropic regulator 1 [ Homo sapiens (human) ]

    Gene ID: 5356, updated on 5-May-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
    mouse all
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    Genomic context

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    See PLRG1 in Genome Data Viewer
    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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    NEW Try the new Transcript table

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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