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  2. MYPN - myopalladin Gene

MYPN - myopalladin Gene

中文名称:肌钯蛋白

种属: Homo sapiens

同用名: MYOP; RCM4; CMH22; NEM11; CMD1DD

基因 ID: 84665 | 基因类型: protein coding

关于 MYPN

Cytogenetic location: 10q21.3 Genomic coordinates (GRCh38): 10:68,087,897-68,212,017 (from NCBI)

This gene has 23 transcripts (splice variants), 217 orthologues, 9 paralogues and is associated with 8 phenotypes. Biased expression in heart (RPKM 21.7) and prostate (RPKM 1.5).

功能概要

脊椎动物的横纹肌包含大型蛋白质,必须适当组织才能有效收缩。横纹肌中的 Z 线是该组织的标志,代表肌动蛋白细丝、肌联蛋白、星云蛋白或星云以及结构和功能所需的辅助蛋白的末端。该基因编码一种蛋白质,该蛋白质与骨骼肌中的星云蛋白或心肌中的星云蛋白和α-辅肌动蛋白相互作用。此外,该基因产物可以与带 I 带的蛋白质相互作用,表明它具有调节和结构功能。可变剪接导致多个转录本变体。[RefSeq 提供,2011 年 12 月]

Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

MYPN 基因产物(3)

mRNA Protein Name
NM_001256267.2 NP_001243196.1 myopalladin isoform a
NM_001256268.2 NP_001243197.1 myopalladin isoform b
NM_032578.4 NP_115967.2 myopalladin isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables SH3 domain binding IPI
IPI: 通过物理相互作用推断
11309420 GOA
enables cytoskeletal protein binding IPI
IPI: 通过物理相互作用推断
11309420 GOA
enables muscle alpha-actinin binding IPI
IPI: 通过物理相互作用推断
11309420 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11309420 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in sarcomere organization IMP
IMP: 通过突变表型推断
11309420 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in I band IDA
IDA: 通过直接分析推断
11309420 GOA
colocalizes with Z disc IDA
IDA: 通过直接分析推断
11309420 GOA
located in Z disc IDA
IDA: 通过直接分析推断
28017374 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MYPN 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (269 - 356)

I-set

I-set: Immunoglobulin I-set domain (435 - 532)

I-set

I-set: Immunoglobulin I-set domain (945 - 1036)

I-set

I-set: Immunoglobulin I-set domain (1073 - 1163)

I-set

I-set: Immunoglobulin I-set domain (1172 - 1263)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1320 a.a.
蛋白主名 其他名称

myopalladin

sarcomeric protein myopalladin, 145 kDa (MYOP)

MYPN 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
MYPN Q86TC9 NEB Homo sapiens P20929 12482578
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cardiomyopathy, Dilated, 1kk

Cardiomyopathy, Familial Restrictive, 4

Dilated Cardiomyopathy 1kk

CMD1KK

Cardiomyopathy, Hypertrophic, 22

Cardiomyopathy, Dilated 1kk

Cardiomyopathy, Familial Hypertrophic 22

CMH22

Cardiomyopathy, Familial Restrictive 4

RCM4

Familial Hypertrophic Cardiomyopathy 22

Cardiomyopathy, Dilated, Type 1kk

Cardiomyopathy, Familial Hypertrophic, 22

Nemaline Myopathy 11, Autosomal Recessive

NEM11

Nemaline Myopathy 11

Cap Myopathy

Cap Disease

Congenital Myopathy With Caps

Familial Isolated Restrictive Cardiomyopathy

Familial Or Idiopathic Restrictive Cardiomyopathy

Childhood-Onset Nemaline Myopathy

Mild Nemaline Myopathy

Nemaline Myopathy, Childhood Onset

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Cardiomyopathy, Familial Restrictive, 2

RCM2

Restrictive Cardiomyopathy 2

Familial Restrictive Cardiomyopathy 2

Cardiomyopathy, Restrictive, Familial, Type 2

Cardiomyopathy, Familial Restrictive, 3

RCM3

Restrictive Cardiomyopathy 3

Familial Restrictive Cardiomyopathy 3

Cardiomyopathy, Familial Restrictive 3

Cardiomyopathy, Restrictive, Familial, Type 3

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

Mitochondrial Dna Depletion Syndrome 12b
Myopathy, Spheroid Body

Spheroid Body Myopathy

Autosomal Dominant Spheroid Body Myopathy

SBM

Myopathy, Myofibrillar, 3

Myotilinopathy

Myofibrillar Myopathy 3

MFM3

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a

Lgmd1a

Muscular Dystrophy, Limb-Girdle, Type 1a

Myopathy, Myofibrillar, Myotilin-Related

Muscular Dystrophy, Limb-Girdle, Type 1, Formerly

Lgmd1, Formerly

Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly

Lgmd1a, Formerly

Qualitative Or Quantitative Defects Of Myotilin

Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency

Distal Myotilinopathy

Lgmd1

Limb-Girdle Muscular Dystrophy 1a

Mfm Myotilin-Related

Muscular Dystrophy, Limb-Girdle, Type 1

Myopathy Myofibrillar Myotylin-Related

Myopathy, Myofibrillar, Type 3

Cardiomyopathy, Familial Restrictive, 1

RCM1

Restrictive Cardiomyopathy 1

Rcm

Familial Restrictive Cardiomyopathy 1

Cardiomyopathy, Familial Restrictive 1

Cardiomyopathy, Restrictive, Familial, Type 1

Rcm-1

Nemaline Myopathy 10

NEM10

Myopathy, Nemaline, Type 10

Congenital Structural Myopathy
Nemaline Myopathy 8

NEM8

Nemaline Myopathy 8, Autosomal Recessive

Myopathy, Nemaline, Type 8

Myopathy

Muscular Diseases

Myopathies

Myopathy, Myofibrillar, 4

Myofibrillar Myopathy 4

MFM4

Zaspopathy

Myopathy, Myofibrillar, Zasp-Related

Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

Nemaline Myopathy 2

NEM2

Nemaline Myopathy 2, Autosomal Recessive

Nemaline Myopathy, Type 2

Neb-Related Nemaline Myopathy

Myopathy, Nemaline, Type 2

First-Degree Atrioventricular Block

First Degree Atrioventricular Block

First Degree Heart Block

Incomplete Atrioventricular Block, First Degree

First Degree Atrioventricular Heart Block

Myopathy, Myofibrillar, 1

Desmin-Related Myofibrillar Myopathy

Desmin-Related Myopathy

MFM1

Myopathy, Myofibrillar, Desmin-Related

Drm

Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

Myofibrillar Myopathy 1

Desminopathy

Muscular Dystrophy, Limb-Girdle, Type 2r

Arrhythmogenic Right Ventricular Dysplasia, Familial, 7

Desminopathy, Primary

Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly

Arvd7, Formerly

Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly

Arvc7, Formerly

Inclusion Body Myopathy 1, Autosomal Dominant, Formerly

Ibm1, Formerly

Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly

Cmd1f And Lgmd1d, Formerly

Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy

Cdcd3, Formerly

Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly

Lgmd2r, Formerly

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

Arrhythmogenic Right Ventricular Cardiomyopathy 7

Arvc7

Arvd7

Autosomal Dominant Inclusion Body Myopathy 1

Cdcd3

Cmd1f And Lgmd1d

Desminopathy Primary

Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d

Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy

Familial Arrhythmogenic Right Ventricular Dysplasia 7

Lgmd2r

Limb-Girdle Muscular Dystrophy 2r

Mfm Desmin-Related

Myopathy Myofibrillar Desmin-Related

Dystrophy, Muscular, Limb-Girdle, Type 2r

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Myopathy, Myofibrillar, 9, With Early Respiratory Failure

Hereditary Myopathy With Early Respiratory Failure

Hmerf

Myopathy, Proximal, With Early Respiratory Muscle Involvement

Edstrom Myopathy

Mfm-Titinopathy

MFM9

Mprm

Hereditary Inclusion Body Myopathy With Early Respiratory Failure

Hibm-Erf

Myofibrillar Myopathy-Titinopathy

Myofibrillar Myopathy With Early Respiratory Failure

Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

Myofibrillar Myopathy 9

Myofibrillar Myopathy 9 With Early Respiratory Failure

Autosomal Dominant Distal Myopathy With Early Respiratory Failure

Proximal Myopathy With Early Respiratory Muscle Involvement

Hereditary Proximal Myopathy With Early Respiratory Failure

Admerf

Edström Myopathy

Hmerf-Erf

Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]

Endocardial Fibroelastosis

Endomyocardial Fibroelastosis

Elastomyofibrosis

EFE

Efe - [Endocardial Fibroelastosis]

Primary Endocardial Fibroelastosis

Fibroelastosis Cordis

Fetal Endocarditis

Fibroelastosis

Congenital Endocardial Fibroelastosis

Congenital Valvular Endocarditis

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy

Tibial Muscular Dystrophy

Tmd

Udd Myopathy

Distal Titinopathy

Finnish Tibial Muscular Dystrophy

Tardive Tibial Muscular Dystrophy

Udd Type Distal Myopathy

Udd Distal Myopathy

Udd-Markesbery Muscular Dystrophy

Distal Myopathy, Udd Type

Distal Myopathies

Tibial Muscular Dystrophy, Tardive

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Batten-Turner Congenital Myopathy

Congenital Myopathy

Batten Turner Congenital Myopathy

Myopathy Congenital

Myopathy, Congenital

Myotonia Congenita

Benign Congenital Myopathy

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction 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

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus MYPN RGD RGD:1308510
Bos taurus MYPN VGNC VGNC:31843
Canis familiaris MYPN VGNC VGNC:43586
Macaca mulatta MYPN VGNC VGNC:75007
Mus musculus MYPN MGD MGI:1916052