• Gene id: 5341

Gene Summary

• Gene Symbol: PLEK   Gene   UCSC   Ensembl
• Aliases: P47
• Gene name: pleckstrin
• Alternate names: pleckstrin, platelet 47 kDa protein,
• Gene location: 2p14 (68365281: 68397452)     Exons: 9     NC_000002.12
• OMIM: 173570

Protein Summary

• Protein general information: P08567  
  • Name: Pleckstrin (Platelet 47 kDa protein) (p47)
  • Length: 350  
  • Mass: 40125
• Sequence:

  MEPKRIREGYLVKKGSVFNTWKPMWVVLLEDGIEFYKKKSDNSPKGMIPLKGSTLTSPCQDFGKRMFVFKITTTK
  QQDHFFQAAFLEERDAWVRDIKKAIKCIEGGQKFARKSTRRSIRLPETIDLGALYLSMKDTEKGIKELNLEKDKK
  IFNHCFTGNCVIDWLVSNQSVRNRQEGLMIASSLLNEGYLQPAGDMSKSAVDGTAENPFLDNPDAFYYFPDSGFF
  CEENSSDDDVILKEEFRGVIIKQGCLLKQGHRRKNWKVRKFILREDPAYLHYYDPAGAEDPLGAIHLRGCVVTSV
  ESNSNGRKSEEENLFEIITADEVHYFLQAATPKERTEWIRAIQMASRTGK

• Structural information:
  • Protein Domains: (4..10-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (136..22-)
    (/note="DEP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00066-)
    (244..34-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR000591  IPR011993  IPR001849  IPR037370  IPR037371   IPR036388  IPR036390  
  • Prosite: PS50186 PS50003
  • CDD: cd04445
  • PDB: 1PLS 1W4M 1X05 1XX0 1ZM0 2CSO 2I5C 2I5F
  • PDBsum: 1PLS 1W4M 1X05 1XX0 1ZM0 2CSO 2I5C 2I5F
  • STRING: ENSP00000234313
• Other Databases: GeneCards:  PLEK  Malacards:  PLEK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0031532	actin cytoskeleton reorganization	IBA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070560	protein secretion by platelet	IEA	biological process
GO:0070528	protein kinase C signaling	IEA	biological process
GO:0010572	positive regulation of platelet activation	IEA	biological process
GO:0070527	platelet aggregation	IEA	biological process
GO:0070493	thrombin-activated receptor signaling pathway	IEA	biological process
GO:0033625	positive regulation of integrin activation	IEA	biological process
GO:0030836	positive regulation of actin filament depolymerization	IEA	biological process
GO:0006904	vesicle docking involved in exocytosis	IEA	biological process
GO:0005080	protein kinase C binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007229	integrin-mediated signaling pathway	IDA	biological process
GO:0010920	negative regulation of inositol phosphate biosynthetic process	IDA	biological process
GO:0010920	negative regulation of inositol phosphate biosynthetic process	IDA	biological process
GO:0010925	positive regulation of inositol-polyphosphate 5-phosphatase activity	IDA	biological process
GO:0030030	cell projection organization	IDA	biological process
GO:0030845	phospholipase C-inhibiting G protein-coupled receptor signaling pathway	IDA	biological process
GO:0030866	cortical actin cytoskeleton organization	IDA	biological process
GO:0032233	positive regulation of actin filament bundle assembly	IDA	biological process
GO:0032587	ruffle membrane	IDA	cellular component
GO:0045744	negative regulation of G protein-coupled receptor signaling pathway	IDA	biological process
GO:0046488	phosphatidylinositol metabolic process	IDA	biological process
GO:0010572	positive regulation of platelet activation	ISS	biological process
GO:0070528	protein kinase C signaling	ISS	biological process
GO:0070560	protein secretion by platelet	ISS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0030836	positive regulation of actin filament depolymerization	IDA	biological process
GO:0031529	ruffle organization	IDA	biological process
GO:0031532	actin cytoskeleton reorganization	IDA	biological process
GO:0060305	regulation of cell diameter	IDA	biological process
GO:0070493	thrombin-activated receptor signaling pathway	IDA	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IEP	biological process
GO:0002576	platelet degranulation	IEP	biological process
GO:0006904	vesicle docking involved in exocytosis	ISS	biological process
GO:0033625	positive regulation of integrin activation	ISS	biological process
GO:0050849	negative regulation of calcium-mediated signaling	NAS	biological process
GO:0070527	platelet aggregation	ISS	biological process
GO:0070527	platelet aggregation	HMP	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881