PLN - phospholamban Gene

中文名称：受磷蛋白

种属: Homo sapiens

同用名: PLB; CMD1P; CMH18

基因 ID: 5350 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质被发现为五聚体，是心肌中 cAMP 依赖性蛋白激酶的主要底物。编码的蛋白质是未磷酸化状态下心肌肌浆网 Ca (2+) -ATP 酶的抑制剂，但蛋白质磷酸化后抑制作用解除。 Ca (2+) 泵的后续激活导致肌肉松弛率增强，从而有助于 β 激动剂在心脏中引起的正性肌力反应。编码的蛋白质是心脏舒张功能的关键调节剂。该基因的突变是遗传性人类扩张型心肌病伴难治性充血性心力衰竭以及家族性肥厚性心肌病的原因。[RefSeq 提供，2016 年 4 月]

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 基因产物(1)

mRNA	Protein	Name
NM_002667.5	NP_002658.1	cardiac phospholamban

PLN 蛋白结构

Phospholamban

0
52 a.a.

蛋白主名

其他名称

cardiac phospholamban

重组 PLN 蛋白

目录号	产品名	蛋白编号	纯度
HY-P72275	Cardiac phospholamban/PLN, Human (P.pastoris, GST)	P26678 (M1-L52)	≥95%

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-137561	Bexotegrast	Inhibitor	98.09%	否
HY-47888	PLN-1474	Inhibitor	99.30%	否
HY-RS10727	PLN Human Pre-designed siRNA Set A		/	否

直系同源

种属	基因名	来源	基因 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

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。沪(浦)应急管危经许[2021]201709(QFYS)	站点地图隐私声明
Copyright © 2013-2024 MedChemExpress. All Rights Reserved.	沪ICP备15051369号-4

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。沪(浦)应急管危经许[2021]201709(QFYS)

站点地图隐私声明

PLN - phospholamban Gene

关于 PLN

功能概要

PLN 基因产物(1)

PLN 蛋白结构

重组 PLN 蛋白

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

PLN - phospholamban Gene

关于 PLN

功能概要

PLN 基因产物(1)

PLN 蛋白结构

重组 PLN 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z