• Gene id: 4634

Gene Summary

• Gene Symbol: MYL3   Gene   UCSC   Ensembl
• Aliases: CMH8, MLC-lV/sb, MLC1SB, MLC1V, VLC1, VLCl
• Gene name: myosin light chain 3
• Alternate names: myosin light chain 3, CMLC1, cardiac myosin light chain 1, myosin light chain 1, slow-twitch muscle B/ventricular isoform, myosin, light chain 3, alkali; ventricular, skeletal, slow, myosin, light polypeptide 3, alkali; ventricular, skeletal, slow, ventricular ,
• Gene location: 3p21.31 (46863443: 46857871)     Exons: 7     NC_000003.12
• Gene summary(Entrez): MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypert
• OMIM: 600922

Protein Summary

• Protein general information: P08590  
  • Name: Myosin light chain 3 (Cardiac myosin light chain 1) (CMLC1) (Myosin light chain 1, slow twitch muscle B/ventricular isoform) (MLC1SB) (Ventricular myosin alkali light chain) (Ventricular myosin light chain 1) (VLCl) (Ventricular/slow twitch myosin alkali
  • Length: 195  
  • Mass: 21932
• Sequence:

  MAPKKPEPKKDDAKAAPKAAPAPAPPPEPERPKEVEFDASKIKIEFTPEQIEEFKEAFMLFDRTPKCEMKITYGQ
  CGDVLRALGQNPTQAEVLRVLGKPRQEELNTKMMDFETFLPMLQHISKNKDTGTYEDFVEGLRVFDKEGNGTVMG
  AELRHVLATLGERLTEDEVEKLMAGQEDSNGCINYEAFVKHIMSS

• Structural information:
  • Protein Domains: (49..8-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (128..16-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (163..19-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0-)
  • Interpro: IPR011992  IPR002048  
  • Prosite: PS50222
  • CDD: cd00051
  • PDB: 5TBY
  • PDBsum: 5TBY
  • STRING: ENSP00000379210
• Other Databases: GeneCards:  MYL3  Malacards:  MYL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0005859	muscle myosin complex	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0003785	actin monomer binding	IDA	molecular function
GO:0032038	myosin II heavy chain binding	NAS	molecular function
GO:0031674	I band	IDA	cellular component
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0031672	A band	IDA	cellular component
GO:0002026	regulation of the force of heart contraction	IMP	biological process
GO:0006942	regulation of striated muscle contraction	IMP	biological process
GO:0030017	sarcomere	TAS	cellular component
GO:0032781	positive regulation of ATPase activity	ISS	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04371	Apelin signaling pathway
hsa04260	Cardiac muscle contraction
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy

Diseases

Associated diseases	References
Hypertrophic cardiomyopathy	KEGG:H00292
Hypertrophic cardiomyopathy	KEGG:H00292
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq