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PLEK pleckstrin [ Homo sapiens (human) ]

Gene ID: 5341, updated on 16-Aug-2021

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
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Genomic context

See PLEK in Genome Data Viewer
Location:
2p14
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (68365282..68397453)
105.20201022 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 LOC102724389 Neighboring gene CRISPRi-validated cis-regulatory element chr2.2452 Neighboring gene uncharacterized LOC101927723 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

Associated conditions

Description Tests
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
GeneReviews: Not available
Genome-wide association study of proneness to anger.
GeneReviews: Not available
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
GeneReviews: Not available
Multiple common variants for celiac disease influencing immune gene expression.
GeneReviews: Not available

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
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 reorganization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in actin cytoskeleton reorganization 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 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-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 kinase C signaling 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
PubMed 
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)

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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_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, ENST00000234313.8
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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