1. Gene
  2. MYL1 - myosin light chain 1 Gene

MYL1 - myosin light chain 1 Gene

中文名称:肌球蛋白轻链 1

种属: Homo sapiens

同用名: MLC1; MLC-1; MLC1F; MLC3F; MLC1/3; MYOFTA

基因 ID: 4632 | 基因类型: protein coding

关于 MYL1

Cytogenetic location: 2q34 Genomic coordinates (GRCh38): 2:210,290,150-210,315,174 (from NCBI)

This gene has 4 transcripts (splice variants), 293 orthologues, 4 paralogues and is associated with 3 phenotypes. Restricted expression toward prostate (RPKM 145.3).

功能概要

肌球蛋白是一种六聚体 ATP 酶细胞运动蛋白。它由两条重链、两条不可磷酸化的碱金属轻链和两条可磷酸化的调节轻链组成。该基因编码在快速骨骼肌中表达的肌球蛋白碱性轻链。已经鉴定了该基因的两个转录变体。[RefSeq 提供,2008 年 7 月]

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a Myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

MYL1 基因产物(2)

mRNA Protein Name
NM_079420.3 NP_524144.1 myosin light chain 1/3, skeletal muscle isoform isoform 1f
NM_079422.3 NP_524146.1 myosin light chain 1/3, skeletal muscle isoform isoform 3f
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 structural constituent of muscle IMP
IMP: 通过突变表型推断
30215711 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in muscle contraction IDA
IDA: 通过直接分析推断
8145163 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in myofibril IDA
IDA: 通过直接分析推断
8145163 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

MYL1 蛋白结构

EF-hand_6

EF-hand_6: EF-hand domain (54 - 83)

  • 0
  • 100
  • 194 a.a.
蛋白主名 其他名称

myosin light chain 1/3, skeletal muscle isoform

A1 catalytic

MYL1 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
Myopathy, Congenital, With Fast-Twitch Fiber Atrophy

Congenital Myopathy With Reduced Type 2 Muscle Fibers

MYOFTA

Congenital Myopathy With Fast-Twitch Fiber Atrophy

Congenital Myopathy With Reduced Type Ii Muscle Fibers

Congenital Myopathy With Type 2 Muscle Fiber Atrophy

Congenital Myopathy With Type Ii Fiber Atrophy

Myopathy, Congenital, With Fast-Twitch Type Ii Fiber Atrophy

Crab Allergy

Green Mud Crab Allergy

Scylla Paramamosain Allergy

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

Myopathy

Muscular Diseases

Myopathies

Crustacean Allergy
Myocardial Stunning
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
Felis catus MYL1 VGNC VGNC:80287
Rattus norvegicus MYL1 RGD RGD:1598796
Canis familiaris MYL1 VGNC VGNC:43541
Mus musculus MYL1 MGD MGI:97269
Macaca mulatta MYL1 VGNC VGNC:99384
Bos taurus MYL1 VGNC VGNC:31799
Others MYL1 NCBI