PLEK pleckstrin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Higher expression of PLEK and LY86 as the potential biomarker of carotid atherosclerosis.
Title: Higher expression of PLEK and LY86 as the potential biomarker of carotid atherosclerosis.
Pleckstrin Levels Are Increased in Patients with Chronic Periodontitis and Regulated via the MAP Kinase-p38alpha Signaling Pathway in Gingival Fibroblasts.
Title: Pleckstrin Levels Are Increased in Patients with Chronic Periodontitis and Regulated via the MAP Kinase-p38α Signaling Pathway in Gingival Fibroblasts.
A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.
Title: A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.
Only one gene, pleckstrin , was significantly overexpressed in periodontitis,cardiovascular disease, rheumatoid arthritis and ulcerative colitis , implicating this gene as an important networking link between these chronic inflammatory diseases
Title: Transcriptome analysis reveals mucin 4 to be highly associated with periodontitis and identifies pleckstrin as a link to systemic diseases.
These findings reveal a novel role of the PLD1-pleckstrin homology domain as a positive regulator of endocytosis and provide a link between PLD1 and HIF-1alpha in the EGFR endocytosis pathway.
Title: The pleckstrin homology domain of phospholipase D1 accelerates EGFR endocytosis by increasing the expression of the Rab5 effector, rabaptin-5.
crystallization and preliminary X-ray diffraction analysis of the first 2 domains of pleckstrin (NPHDEP); work demonstrates that NPHDEP behaves as a monomer in solution and suggests that all 3 pleckstrin domains contribute to the dimerization interface
Title: Crystallization and preliminary diffraction analysis of truncated human pleckstrin.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Multiple common variants for celiac disease influencing immune gene expression.
Here they show that the PH domain from Bcr-Abl binds a number of proteins involved in vital cellular processes in leukemogenesis.
Title: Novel role of pleckstrin homology domain of the Bcr-Abl protein: analysis of protein-protein and protein-lipid interactions.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH111 (e-PCR)
- UniSTS:4663

D2S2638 (e-PCR)
- UniSTS:7011

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 more info	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 more info	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

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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)

NM_002664.3 → NP_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:125 → 223

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:3 → 110

PH1_Pleckstrin_2; Pleckstrin 2 Pleckstrin homology (PH) domain, repeat 1

cd13302
Location:239 → 346

PH2_Pleckstrin_2; Pleckstrin 2 Pleckstrin homology (PH) domain, repeat 2

pfam00169
Location:6 → 101

PH; PH domain