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    PLEK pleckstrin [ Homo sapiens (human) ]

    Gene ID: 5341, updated on 3-Dec-2024

    Summary

    Official Symbol
    PLEKprovided by HGNC
    Official Full Name
    pleckstrinprovided by HGNC
    Primary source
    HGNC:HGNC:9070
    See related
    Ensembl:ENSG00000115956 MIM:173570; AllianceGenome:HGNC:9070
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P47; PLEK1
    Summary
    Enables phosphatidylinositol-3,4-bisphosphate binding activity; protein homodimerization activity; and protein kinase C binding activity. Involved in several processes, including G protein-coupled receptor signaling pathway; positive regulation of supramolecular fiber organization; and regulation of phosphate metabolic process. Located in cytoplasm and ruffle membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in bone marrow (RPKM 230.3), lymph node (RPKM 68.5) and 6 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PLEK in Genome Data Viewer
    Location:
    2p14
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (68365282..68397453)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (68375241..68408023)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (68592414..68624585)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11589 Neighboring gene cannabinoid receptor interacting protein 1 Neighboring gene Sharpr-MPRA regulatory region 10638 Neighboring gene uncharacterized LOC102724389 Neighboring gene CRISPRi-validated cis-regulatory element chr2.2452 Neighboring gene uncharacterized LOC101927723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:68693660-68694555 Neighboring gene WDR4 pseudogene 2 Neighboring gene F-box protein 48

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
    EBI GWAS Catalog
    Genome-wide association study of proneness to anger.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ27168

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-3,4-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase C binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell projection organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cortical actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hematopoietic progenitor cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in integrin-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of calcium-mediated signaling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of inositol phosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phosphatidylinositol metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phospholipase C-inhibiting G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in platelet aggregation HMP PubMed 
    involved_in platelet aggregation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in platelet degranulation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of actin filament bundle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of actin filament depolymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of inositol-polyphosphate 5-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of integrin activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of platelet activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein secretion by platelet ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell diameter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ruffle organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in thrombin-activated receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vesicle docking involved in exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    pleckstrin
    Names
    platelet 47 kDa protein

    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_002664.3NP_002655.2  pleckstrin

      See identical proteins and their annotated locations for NP_002655.2

      Status: VALIDATED

      Source sequence(s)
      AC015969, AK130678, BC018549, BM477542
      Consensus CDS
      CCDS1887.1
      UniProtKB/Swiss-Prot
      B2R9E8, P08567, Q53SU8, Q6FGM8, Q6FGQ1, Q8WV81
      UniProtKB/TrEMBL
      Q59GZ2
      Related
      ENSP00000234313.7, ENST00000234313.8
      Conserved Domains (4) summary
      cd04445
      Location:125223
      DEP_PLEK1; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in pleckstrin 1-like proteins. Pleckstrin 1 plays a role in cell spreading and reorganization of actin cytoskeleton in platelets and leukocytes. Its activity is highly regulated by phosphorylation, ...
      cd13301
      Location:3110
      PH1_Pleckstrin_2; Pleckstrin 2 Pleckstrin homology (PH) domain, repeat 1
      cd13302
      Location:239346
      PH2_Pleckstrin_2; Pleckstrin 2 Pleckstrin homology (PH) domain, repeat 2
      pfam00169
      Location:6101
      PH; PH domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      68365282..68397453
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444772.1XP_047300728.1  pleckstrin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      68375241..68408023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342575.1XP_054198550.1  pleckstrin isoform X2

      UniProtKB/Swiss-Prot
      B2R9E8, P08567, Q53SU8, Q6FGM8, Q6FGQ1, Q8WV81
      UniProtKB/TrEMBL
      Q59GZ2
    2. XM_054342576.1XP_054198551.1  pleckstrin isoform X1