PLEK - pleckstrin Gene

Homo sapiens

Also known as P47; PLEK1

Gene ID: 5341 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PLEK	P08567	WDR75	Homo sapiens	Q8IWA0	Anti Tag CoIP	33961781
Intra	PLEK	P08567	WDR75	Homo sapiens	Q8IWA0	Anti Tag CoIP	28514442
Intra	PLEK	P08567	CAVIN2	Homo sapiens	O95810	Pull Down	19722192
Intra	PLEK	P08567	CAVIN2	Homo sapiens	O95810	Anti Bait CoIP	19722192
Intra	PLEK	P08567	INPP5A	Homo sapiens	Q14642	Affinity Chrom	8999861
Intra	PLEK	P08567	INPP5A	Homo sapiens	Q14642	Anti Bait CoIP	8999861
Intra	PLEK	P08567	INPP5A	Homo sapiens	Q14642	Anti Tag CoIP	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%

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10677	PLEK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS10678	PLEK2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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