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    PLRG1 pleiotropic regulator 1 [ Homo sapiens (human) ]

    Gene ID: 5356, updated on 3-Nov-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See PLRG1 in Genome Data Viewer
    Location:
    4q31.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (154535005..154550400, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (157866774..157882170, complement)
    RS_2024_09 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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC110980

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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

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

    NCBI Reference Sequences (RefSeq)

    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_001201564.2NP_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:187481
      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:200235
      7WD40; WD40 repeat [structural motif]
    2. NM_002669.4NP_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:196490
      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:209244
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)