MYL1 - myosin light chain 1 Gene

Homo sapiens

Also known as MLC1; MLC-1; MLC1F; MLC3F; MLC1/3; MYOFTA

Gene ID: 4632 | Gene type: protein coding

About 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).

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables structural constituent of muscle	IMP IMP: Inferred from mutant phenotype	30215711	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in muscle contraction	IDA IDA: Inferred from direct assay	8145163	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in myofibril	IDA IDA: Inferred from direct assay	8145163	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

MYL1 Protein Structure

EF-hand_6

0
100
194 a.a.

Protein Preferred Names

Protein Names

myosin light chain 1/3, skeletal muscle isoform

A1 catalytic

Related Diseases

Diseases

Alias

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

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08909	MYL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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