PLEK - pleckstrin Gene

Also Known as P47; PLEK1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5341

About PLEK

Cytogenetic location: 2p14 Genomic coordinates (GRCh38): 2:68,365,282-68,397,453 (from NCBI)

This gene has 2 transcripts (splice variants), 205 orthologues and 1 paralogue. Biased expression in bone marrow (RPKM 230.3), lymph node (RPKM 68.5) and 6 other tissues.

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; actin Cytoskeleton organization; and positive regulation of supramolecular fiber organization. Located in cytoplasm and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022]

PLEK Products (1)

mRNA Protein Name
NM_002664.3 NP_002655.2 pleckstrin
Molecular Function GO Annotation Evidence References Source
enables phosphatidylinositol-3,4-bisphosphate binding IDA
IDA: Inferred from direct assay
15698571 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8999861 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
8694752 GOA
enables protein kinase C binding IDA
IDA: Inferred from direct assay
8615792 GOA
Biological Process GO Annotation Evidence References Source
involved in actin cytoskeleton organization IDA
IDA: Inferred from direct assay
10497244 GOA
involved in cell projection organization IDA
IDA: Inferred from direct assay
9060471 GOA
involved in cortical actin cytoskeleton organization IDA
IDA: Inferred from direct assay
10497244 GOA
involved in hematopoietic progenitor cell differentiation IEP
IEP: Inferred from expression pattern
2768345 GOA
involved in integrin-mediated signaling pathway IDA
IDA: Inferred from direct assay
10995449 GOA
involved in negative regulation of G protein-coupled receptor signaling pathway IDA
IDA: Inferred from direct assay
7782310 GOA
involved in negative regulation of inositol phosphate biosynthetic process IDA
IDA: Inferred from direct assay
7559487 GOA
involved in phosphatidylinositol metabolic process IDA
IDA: Inferred from direct assay
7559487 GOA
involved in phospholipase C-inhibiting G protein-coupled receptor signaling pathway IDA
IDA: Inferred from direct assay
7782310 GOA
involved in platelet degranulation IEP
IEP: Inferred from expression pattern
7559487 GOA
involved in positive regulation of actin filament bundle assembly IDA
IDA: Inferred from direct assay
10497244 GOA
involved in positive regulation of actin filament depolymerization IDA
IDA: Inferred from direct assay
10497244 GOA
involved in positive regulation of inositol-polyphosphate 5-phosphatase activity IDA
IDA: Inferred from direct assay
8999861 GOA
involved in regulation of cell diameter IDA
IDA: Inferred from direct assay
10995449 GOA
involved in ruffle organization IDA
IDA: Inferred from direct assay
10497244 GOA
involved in thrombin-activated receptor signaling pathway IDA
IDA: Inferred from direct assay
7782310 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
8694752 GOA
located in ruffle membrane IDA
IDA: Inferred from direct assay
9060471 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

pleckstrin

  • platelet 47 kDa protein

PLEK Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PLEK P08567 WDR75 Homo sapiens Q8IWA0 33961781
Intra
PLEK P08567 WDR75 Homo sapiens Q8IWA0 28514442
Intra
PLEK P08567 CAVIN2 Homo sapiens O95810 19722192
Intra
PLEK P08567 CAVIN2 Homo sapiens O95810 19722192
Intra
PLEK P08567 INPP5A Homo sapiens Q14642 8999861
Intra
PLEK P08567 INPP5A Homo sapiens Q14642 8999861
Intra
PLEK P08567 INPP5A Homo sapiens Q14642 8999861
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PLEK Proteins

Cat. No. Product Name Accession Purity
HY-P73707 Pleckstrin Protein, Human (His) P08567 (M1-K350) ≥ 95%, as determined by reducing SDS-PAGE.

PLEK Antibodies

Cat. No. Product Name Application Reactivity
HY-P83418 Pleckstrin Antibody (YA3163) WB Human
HY-P83418A Pleckstrin Antibody (YA3163)(PBS only) WB Human

Related Diseases

Diseases Alias
Aarskog-Scott Syndrome
  • Aarskog Syndrome

  • Faciogenital Dysplasia

  • Faciodigitogenital Syndrome

  • AAS

  • Fgdy

  • X-Linked Aarskog Syndrome

  • Intellectual Developmental Disorder, X-Linked, Syndromic 16

  • Aarskog Syndrome, X-Linked

  • Intellectual Developmental Disorder, X-Linked Syndromic 16

  • Greig'S Syndrome

  • Aarskog Scott Syndrome

  • Aarskog Disease

  • Scott Aarskog Syndrome

  • Facio-Digito-Genital Dysplasia

  • Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder

  • Aarskog-Scott Syndrome ) Syndrome

Agammaglobulinemia, X-Linked
  • X-Linked Agammaglobulinemia

  • XLA

  • Bruton Type Agammaglobulinemia

  • Bruton'S Agammaglobulinemia

  • Bruton-Type Agammaglobulinemia

  • Agmx1

  • Imd1

  • Agammaglobulinemia, X-Linked 1

  • Btk-Deficiency

  • Agammaglobulinemia

  • Hypogammaglobulinemia

  • Agammaglobulinemia, X-Linked, Type 1

  • Immunodeficiency 1

  • Bruton Agammaglobulinemia Tyrosine Kinase Deficiency

  • Bruton Disease

  • Bruton'S Agammaglobulinaemia

  • Bruton'S Sex-Linked Agammaglobulinemia

  • Bruton'S Type Agammaglobulinemia

  • Btk Deficiency

  • Agammaglobulinemia, Btk

  • Agammaglobulinemia, Bruton Tyrosine Kinase

  • Congenital Agammaglobulinemia

  • Immunodeficiency Type 1

  • X-Linked Agammaglobulinemia Type 1

Centronuclear Myopathy
  • Myopathy, Centronuclear

  • Myotubular Myopathy

  • Cnm

  • Myopathy, Myotubular

  • Congenital Structural Myopathy

Agammaglobulinemia
  • Hypogammaglobulinemia

  • Ighm

  • Mu Heavy Chain Deficiency

  • Mu-Heavy Chain Disease

  • Mu-Hcd

  • Mu-Chain Disease

Wiskott-Aldrich Syndrome
  • WAS

  • Eczema-Thrombocytopenia-Immunodeficiency Syndrome

  • Immunodeficiency 2

  • Aldrich Syndrome

  • Imd2

  • Wiskott-Aldrich Syndrome 1

  • Was1

  • Wiskott Syndrome

  • Wiskott Aldrich Syndrome

  • Eczema Thrombocytopenia Immunodeficiency Syndrome

  • Imd 2

Anxiety
  • Anxiety Disorder

  • Anxiety Disorders

  • Anxiety State

  • Anxieties

  • Anxiety Neurosis

Charcot-Marie-Tooth Disease, Dominant Intermediate B
  • CMTDIB

  • Charcot-Marie-Tooth Disease Dominant Intermediate B

  • Di-Cmtb

  • Cmtdi1

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m

  • Charcot-Marie-Tooth Neuropathy Dominant Intermediate B

  • CMT2M

  • Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B

  • Charcot-Marie-Tooth Disease, Axonal Type 2m

  • Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B

  • Charcot-Marie-Tooth Disease 2m

  • Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m

  • Charcot-Marie-Tooth Disease Axonal Type 2m

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2m

  • Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B

  • Charcot-Marie-Tooth Disease, Axonal, Type 2m

  • Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B

Osteopetrosis
  • Marble Bone Disease

  • Albers-Schonberg Disease

  • Osteopetroses

  • Marble Bones

  • Osteopetrosis And Related Disorders

  • Congenital Osteopetrosis

  • Marble Bone

  • Albers-Schoenberg Disease

  • Albers-Schonberg Osteopetrosis

  • Osteosclerosis Fragilis

  • Ivory Bones

Cowden Syndrome 1
  • Bannayan-Riley-Ruvalcaba Syndrome

  • Pten Hamartoma Tumor Syndrome

  • Lhermitte-Duclos Disease

  • Bannayan-Zonana Syndrome

  • Phts

  • Riley-Smith Syndrome

  • Bzs

  • Ruvalcaba-Myhre-Smith Syndrome

  • Multiple Hamartoma Syndrome

  • Rmss

  • Brrs

  • Dysplastic Gangliocytoma Of The Cerebellum

  • CWS1

  • Cs

  • Cd

  • Mham

  • Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

  • Macrocephaly Multiple Lipomas And Hemangiomata

  • Bannayan-Ruvalcaba-Riley Syndrome

  • Myhre-Riley-Smith Syndrome

  • LDD

  • Cerebelloparenchymal Disorder Vi

  • Hamartoma Syndrome, Multiple

  • Bbrs

  • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

  • Macrocephaly, Multiple Lipomas, And Hemangiomata

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomas

  • Ruvalcaba -Myhre-Smith Syndrome

  • Ruvalcaba-Myhre Syndrome

  • Cowden Disease

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomata

  • Cerebellar Granule Cell Hypertrophy And Megalencephaly

  • Cpd6

  • Pten Hamartoma Tumor Syndromes

  • Cowden Syndrome, Type 1

Nystagmus 3, Congenital, Autosomal Dominant
  • NYS3

  • Congenital Nystagmus 3

  • Autosomal Dominant Congenital Nystagmus 3

Spinocerebellar Ataxia 5
  • Spinocerebellar Ataxia Type 5

  • SCA5

  • Spinocerebellar Ataxia-5

  • Ataxia, Spinocerebellar, Type 5

Skin Granular Cell Tumor
  • Granular Cell Neoplasm Of The Skin

  • Granular Cell Tumor Of Skin

  • Granular Cell Tumour Of Skin

  • Skin Granular Cell Tumour

Proteus Syndrome
  • Proteus Syndrome, Somatic

  • Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome

  • Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly

  • Wiedemann'S Syndrome

  • Hemihypertrophy And Macrocephaly

  • Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly

  • Ps

  • PROTEUSS

  • Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly

Leukocyte Adhesion Deficiency, Type Iii
  • Leukocyte Adhesion Deficiency 3

  • LAD3

  • Leukocyte Adhesion Deficiency 1 Variant

  • Lad1v

  • Integrin Activation Deficiency Disease

  • Iadd

  • Leukocyte Adhesion Deficiency Type Iii

  • Lad1 Variant

  • Lad-1 Variant

  • Lad-Iii

  • Leukocyte Adhesion Deficiency-1 Variant

  • Leukocyte Adhesion Deficiency Type 1

Lowe Oculocerebrorenal Syndrome
  • Lowe Syndrome

  • Oculocerebrorenal Syndrome

  • OCRL

  • Oculocerebrorenal Syndrome Of Lowe

  • Ocrl1

  • Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

  • Lowe Disease

  • Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency

  • Cerebrooculorenal Syndrome

  • Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency

  • Lowe Oculo-Cerebro-Renal Dystrophy

  • Lowe Oculo-Cerebro-Renal Syndrome

  • Lowe Oculocerebrorenal Dystrophy

  • Low

  • Chromosome 11p Deletion Syndrome

  • Oculocerebrorenal Dystrophy

  • Cerebro-Oculorenal Dystrophy

  • Ocrl1 - [Oculocerebrorenal Syndrome]

  • Lowe-Terrey-Maclachlan Syndrome

  • Renal-Oculocerebrodystrophy

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Immunodeficiency 58
  • IMD58

  • Severe Combined Immunodeficiency Due To Carmil2 Deficiency

  • Combined Immunodeficiency Due To Carmil2 Deficiency

  • Combined Immunodeficiency Due To Rltpr Deficiency

Neuropathy, Hereditary Sensory, Type Id
  • HSN1D

  • Hereditary Sensory Neuropathy Type 1d

  • Neuropathy, Hereditary Sensory, Type 1d

  • Neuropathy, Hereditary Sensory, 1d

  • Hereditary Sensory Neuropathy Type Id

  • Neuropathy, Sensory, Hereditary, Type Id

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Unilateral Focal Polymicrogyria
Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

Cowden Syndrome
  • Cowden Disease

  • Multiple Hamartoma Syndrome

  • Cowden'S Disease

  • Lhermitte-Duclos Disease

  • Cd

  • Cs

  • Mham

  • Dysplastic Gangliocytoma Of Cerebellum

  • Cowden'S Syndrome

  • Hamartoma Syndrome, Multiple

Noonan Syndrome 1
  • Noonan Syndrome

  • NS1

  • Male Turner Syndrome

  • Female Pseudo-Turner Syndrome

  • Turner Phenotype With Normal Karyotype

  • Noonan Syndrome With Pigmented Villonodular Synovitis

  • Turner'S Phenotype, Karyotype Normal

  • Familial Turner Syndrome

  • Noonan'S Syndrome

  • Noonan-Ehmke Syndrome

  • Ns

  • Pseudo-Ullrich-Turner Syndrome

  • Turner Syndrome In Female With X Chromosome

  • Turner-Like Syndrome

  • Ullrich-Noonan Syndrome

  • Noonan-Like/Multiple Giant Cell Lesion Syndrome

  • Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

  • Pterygium Colli Syndrome

  • Noonan Syndrome, Type 1

  • Turner Syndrome, Male

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus PLEK VGNC VGNC:33001
Canis familiaris PLEK VGNC VGNC:44666
Macaca mulatta PLEK VGNC VGNC:76174
Rattus norvegicus PLEK RGD RGD:1308269
Felis catus PLEK VGNC VGNC:68903
Mus musculus PLEK MGD MGI:1860485
Others PLEK NCBI