PLN - phospholamban Gene

Homo sapiens

Also known as PLB; CMD1P; CMH18

Gene ID: 5350 | Gene type: protein coding

About PLN

Cytogenetic location: 6q22.31 Genomic coordinates (GRCh38): 6:118,548,296-118,561,716 (from NCBI)

This gene has 1 transcript (splice variant), 187 orthologues and is associated with 5 phenotypes. Biased expression in heart (RPKM 615.2), gall bladder (RPKM 62.5) and 1 other tissue.

Summary

The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum CA(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the CA(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure, and also familial hypertrophic cardiomyopathy. [provided by RefSeq, Apr 2016]

PLN Products(1)

mRNA	Protein	Name
NM_002667.5	NP_002658.1	cardiac phospholamban

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATPase inhibitor activity	IDA IDA: Inferred from direct assay	19708671	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15598648	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of ATP-dependent activity	IDA IDA: Inferred from direct assay	19708671	GOA
involved in negative regulation of ATPase-coupled calcium transmembrane transporter activity	IDA IDA: Inferred from direct assay	19708671	GOA
involved in negative regulation of calcium ion binding	IDA IDA: Inferred from direct assay	19708671	GOA
involved in negative regulation of calcium ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	19708671	GOA
involved in negative regulation of calcium ion transport	IDA IDA: Inferred from direct assay	19708671	GOA
involved in negative regulation of heart rate	IMP IMP: Inferred from mutant phenotype	16432188	GOA
involved in regulation of ATPase-coupled calcium transmembrane transporter activity	IDA IDA: Inferred from direct assay	22427649	GOA
involved in regulation of calcium ion transport	IDA IDA: Inferred from direct assay	22427649	GOA
involved in regulation of heart contraction	IMP IMP: Inferred from mutant phenotype	16432188	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of calcium ion-transporting ATPase complex	IDA IDA: Inferred from direct assay	19708671	GOA
located in membrane	IDA IDA: Inferred from direct assay	19708671	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

PLN Protein Structure

Phospholamban

0
52 a.a.

Protein Preferred Names

Protein Names

cardiac phospholamban

Recombinant PLN Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72275	Cardiac phospholamban/PLN, Human (P.pastoris, GST)	P26678 (M1-L52)	≥95%

Related Diseases

Diseases

Alias

Cardiomyopathy, Dilated, 1p

Dilated Cardiomyopathy 1p	CMD1P
Cardiomyopathy, Dilated 1p	Cardiomyopathy, Dilated, Type 1p

Cardiomyopathy, Familial Hypertrophic, 18

Hypertrophic Cardiomyopathy 18	CMH18
Cardiomyopathy, Hypertrophic, 18	Cardiomyopathy Familial Hypertrophic 18
Cardiomyopathy, Familial Hypertrophic 18	Cardiomyopathy, Hypertrophic, Familial, Type 18

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Arrhythmogenic Right Ventricular Dysplasia 9	ARVD9
Arrhythmogenic Right Ventricular Cardiomyopathy 9	Arvc9
Familial Arrhythmogenic Right Ventricular Dysplasia 9	Dysplasia, Arrhythmogenic Right Ventricular, Type 9

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Sudden Infant Death Syndrome

SIDS	Sudden Infant Death Syndrome, Susceptibility To
Cot Death	Crib Death
Sudden Death Of Nonspecific Cause In Infancy	Sudden Infant Death
Death, Sudden, Syndrome, Infant

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Cardiac Arrest

Cardiopulmonary Arrest	Circulatory Arrest
Heart Arrest

Congestive Heart Failure

Congestive Heart Disease	Heart Failure
Cardiac Failure Congestive	Chf
Weak Heart	Heart Failure Congestive
Ccf - [Congestive Cardiac Failure]	Chf - [Congestive Heart Failure]
Congestive Cardiac Diseases	Congested Heart Failure
Congestive Cardiac Failure	Cardiac Anasarca
Cardiac Oedema	Cardiac Stasis
Cardiovascular Oedema	Cardiac Hydrops
Congestive Failure	Heart Congestion
Heart Fluid	Oedematous Heart

Brody Disease

Brody Myopathy	BROD
Sarcoplasmic Reticulum -Ca2+Atpase Deficiency	Myopathy, Brody

Schwartz-Jampel Syndrome, Type 1

Schwartz-Jampel Syndrome	SJS1
Schwartz-Jampel-Aberfeld Syndrome	Sjs
Chondrodystrophic Myotonia	Schwartz-Jampel Syndrome Type 1
Sja Syndrome	Aberfeld Syndrome
Burton Skeletal Dysplasia	Burton Syndrome
Catel-Hempel Syndrome	Myotonic Chondrodystrophy
Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular And Facial Anomalies	Osteochondromuscular Dystrophy
Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities	Schwartz-Jampel Syndrome 1
Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type	Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria
Schwartz Jampel Syndrome	Myotonic Myopathy Dwarfism Chondrodystrophy And Ocular And Facial Abnormalities
Schwartz Jampel Aberfeld Syndrome	Congenital Blepharophimosis, Myopia, Myopathy Syndrome
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia	Arvc
Arvd	Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Arvc Cardiomyopathy	Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
Arvd/C	Right Ventricular Dysplasia, Arrhythmogenic
Ventricular Dysplasia, Right, Arrhythmogenic	Cardiomyopathy, Ventricular, Right, Arrhythmogenic
Dysplasia, Arrhythmogenic Right Ventricular

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Periarthritis

Cantu Syndrome

Hypertrichotic Osteochondrodysplasia	Hypertrichotic Osteochondrodysplasia Cantu Type
Cantú Syndrome	Craniofaciocardioskeletal Syndrome
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome	Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum
Congenital Hypertrichosis-Coarse Facial Features Spectrum	HTOCD
Osteochondrodysplasia, Hypertrichotic

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-137561	Bexotegrast	Inhibitor	98.94%	Unkown
HY-47888	PLN-1474	Inhibitor	99.30%	Unkown
HY-137561A	Bexotegrast hydrochloride	Inhibitor	/	Unkown
HY-RS10727	PLN Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PLN	RGD	RGD:619894
Felis catus	PLN	VGNC	VGNC:68906
Mus musculus	PLN	MGD	MGI:97622
Canis familiaris	PLN	VGNC	VGNC:44700
Bos taurus	PLN	VGNC	VGNC:33038
Others	PLN	NCBI

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