MYL1 (myosin light chain 1)

Gene

• Entrez ID: 4632
• Gene name: Myosin light chain 1
• Gene symbol: MYL1
• Synonyms (NCBI Gene): CMYO14, CMYP14, MLC-1, MLC1, MLC1/3, MLC1F, MLC3F, MYOFTA
• Chromosome: 2
• Chromosome location: 2q34
• 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 skeleta

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1259220084	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1559659233	T>C	Pathogenic	Splice acceptor variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	NAS	3904738
GO:0006936	Process	Muscle contraction	IDA	8145163
GO:0006936	Process	Muscle contraction	IEA
GO:0008307	Function	Structural constituent of muscle	IMP	30215711
GO:0008307	Function	Structural constituent of muscle	NAS	3904738
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0030016	Component	Myofibril	IDA	8145163
GO:0030017	Component	Sarcomere	NAS	3904738
GO:0030049	Process	Muscle filament sliding	NAS	3904738
GO:0043292	Component	Contractile muscle fiber	IBA

Other IDs

• MIM: 160780
• HGNC: 7582
• e!Ensembl: ENSG00000168530

Protein

• UniProt ID: P05976
• Protein name: Myosin light chain 1/3, skeletal muscle isoform (MLC1/MLC3) (MLC1F/MLC3F) (Myosin light chain alkali 1/2) (Myosin light chain A1/A2)
• Protein function: Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function.
• Sequence:

  MAPKKDVKKPVAAAAAAPAPAPAPAPAPAPAKPKEEKIDLSAIKIEFSKEQQDEFKEAFL
  LFDRTGDSKITLSQVGDVLRALGTNPTNAEVRKVLGNPSNEELNAKKIEFEQFLPMMQAI
  SNNKDQATYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGEKMKEEEVEALMAGQEDSNG
  CINYEAFVKHIMSI

• Sequence length: 194

Pathways

KEGG:

Motor proteins
Cytoskeleton in muscle cells

Reactome:

Striated Muscle Contraction

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL MYOPATHY	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY 14	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy with reduced type 2 muscle fibers	Benign; no classifications from unflagged records; Uncertain significance	ClinVar CTD, ClinVar, Orphanet CTD, ClinVar, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART INJURIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYL1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Valve Disease	Aortic valve disease	Pubtator	1533180	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39656775	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	7901255	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	30215711		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	GENOMICS_ENGLAND_DG	30215711		★☆☆☆☆ Found in Text Mining only
Congenital myopathy with reduced type 2 muscle fibers	Congenital Myopathy With Reduce Muscle Fibers	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Developmental Disabilities	Developmental disability	Pubtator	40488356	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	9475582		★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	1533180	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy Myosin Storage	Myosin storage myopathy	Pubtator	40488356	Inhibit	★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	40488356	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	8395398		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	23435416		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	33499774	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33737696, 37679666	Associate	★☆☆☆☆ Found in Text Mining only