1. Gene
  2. MYL4 - myosin light chain 4 Gene

MYL4 - myosin light chain 4 Gene

中文名称:肌球蛋白轻链 4

种属: Homo sapiens

同用名: GT1; ALC1; AMLC; PRO1957

基因 ID: 4635 | 基因类型: protein coding

关于 MYL4

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:47,189,433-47,227,650 (from NCBI)

This gene has 10 transcripts (splice variants), 290 orthologues, 4 paralogues and is associated with 2 phenotypes. Restricted expression toward heart (RPKM 587.0).

功能概要

肌球蛋白是一种六聚体 ATP 酶细胞运动蛋白。它由两条肌球蛋白重链、两条不可磷酸化的肌球蛋白碱金属轻链和两条可磷酸化的肌球蛋白调节轻链组成。该基因编码在胚胎肌肉和成人心房中发现的肌球蛋白碱性轻链。已经为该基因发现了编码相同蛋白质的两个选择性剪接的转录物变体。[RefSeq 提供,2008 年 7 月]

Myosin is a hexameric ATPase cellular motor protein. It is composed of two Myosin heavy chains, two nonphosphorylatable Myosin alkali light chains, and two phosphorylatable Myosin regulatory light chains. This gene encodes a Myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

MYL4 基因产物(2)

mRNA Protein Name
NM_001002841.2 NP_001002841.1 myosin light chain 4
NM_002476.2 NP_002467.1 myosin light chain 4
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 actin filament binding IMP
IMP: 通过突变表型推断
9738905 GOA
enables actin monomer binding IDA
IDA: 通过直接分析推断
9180271 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cardiac muscle contraction IMP
IMP: 通过突变表型推断
14985854 GOA
involved in positive regulation of ATP-dependent activity IMP
IMP: 通过突变表型推断
9738905 GOA
involved in regulation of the force of heart contraction IMP
IMP: 通过突变表型推断
16675844 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in A band IMP
IMP: 通过突变表型推断
14985854 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

MYL4 蛋白结构

EF-hand_6

EF-hand_6: EF-hand domain (55 - 86)

  • 0
  • 100
  • 197 a.a.
蛋白主名 其他名称

myosin light chain 4

atrial myosin light chain 1

MYL4 抗体

目录号 产品名 应用 反应物种
HY-P85656 Myosin Heavy Chain Antibody (YA5348) ICC/IF Human, Mouse, Rat, FruitFly, Nematode

关联疾病

疾病名称 别名
Atrial Fibrillation, Familial, 18

ATFB18

Fibrillation, Atrial, Familial, Type 18

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Atrial Fibrillation

A-Fib

Fibrillation, Atrial

Af - [Atrial Fibrillation]

Rapid Atrial Fibrillation

A Fib - [Atrial Fibrillation]

Aortic Valve Disease 2

Aortic Valve Stenosis

Aortic Stenosis

Rheumatic Aortic Stenosis

AOVD2

Bicuspid Aortic Valve

Rheumatic Aortic Valve Stenosis

Valvular Aortic Stenosis

Aortic Valve Disease, Type 2

Aortic Valve Stricture

Aortic Valve Obstruction

Obstructed Aorta Valve

Rheumatic Aortic Obstruction

Rheumatic Aortic Valve Obstruction

Rheumatic Aortic Stricture

Aortic Valve Regurgitation

Aortic Insufficiency With Stenosis

Rheumatic Aortic Valve Stenosis With Insufficiency

Rheumatic Aortic Stenosis With Incompetence

Rheumatic Aortic Stenosis With Regurgitation

Acute Myocardial Infarction

Cardiac Attack

Heart Attack

Pleomorphic Rhabdomyosarcoma

Adult Pleomorphic Rhabdomyosarcoma

Anaplastic Rhabdomyosarcoma

Pleomorphic Rhabdomyosarcoma, Adult Type

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

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

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

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

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

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

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 MYL4 RGD RGD:1591197
Canis familiaris MYL4 VGNC VGNC:55648
Mus musculus MYL4 MGD MGI:97267
Felis catus MYL4 VGNC VGNC:68384
Bos taurus MYL4 VGNC VGNC:31802
Macaca mulatta MYL4 VGNC VGNC:75105