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PLEK pleckstrin [ Homo sapiens (human) ]

Gene ID: 5341, updated on 19-Mar-2019

Summary

Official Symbol
PLEKprovided by HGNC
Official Full Name
pleckstrinprovided by HGNC
Primary source
HGNC:HGNC:9070
See related
Ensembl:ENSG00000115956 MIM:173570
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
Expression
Biased expression in bone marrow (RPKM 230.3), lymph node (RPKM 68.5) and 6 other tissues See more
Orthologs

Genomic context

See PLEK in Genome Data Viewer
Location:
2p14
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (68365190..68397453)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (68592322..68624585)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985892 Neighboring gene cannabinoid receptor interacting protein 1 Neighboring gene uncharacterized LOC102724389 Neighboring gene uncharacterized LOC101927723 Neighboring gene WD repeat domain 4 pseudogene 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ27168

Gene Ontology Provided by GOA

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

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
    P08567
    Related
    ENSP00000234313.7, ENST00000234313.7
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    68365190..68397453
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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