Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4632
Gene name	Myosin light chain 1
Gene symbol	MYL1
Synonyms (NCBI Gene)	CMYO14CMYP14MLC-1MLC1MLC1/3MLC1FMLC3FMYOFTA
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

Show/Hide all (2)

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

Show/Hide all (13)

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

MIM	HGNC	e!Ensembl
160780	7582	ENSG00000168530

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.

Family and domains

Sequence

MAPKKDVKKPVAAAAAAPAPAPAPAPAPAPAKPKEEKIDLSAIKIEFSKEQQDEFKEAFL
LFDRTGDSKITLSQVGDVLRALGTNPTNAEVRKVLGNPSNEELNAKKIEFEQFLPMMQAI
SNNKDQATYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGEKMKEEEVEALMAGQEDSNG
CINYEAFVKHIMSI

Sequence length

194

Interactions

View interactions

	KEGG		Reactome
	Motor proteins Cytoskeleton in muscle cells		Striated Muscle Contraction

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Congenital myopathy with reduced type 2 muscle fibers	Benign; no classifications from unflagged records; Uncertain significance	rs544557603, rs1559659233, rs1259220084	RCV002501991 RCV000770785 RCV000770786
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs200875603	RCV004557823
MYL1-related disorder	Benign; Likely benign	rs62001905, rs544557603, rs181132123, rs376404409, rs138512142	RCV003921271 RCV003975784 RCV003916958 RCV003931920 RCV003932131 RCV003932207 RCV003972221

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aortic Valve Disease	Associate	1533180
Breast Neoplasms	Associate	39656775
Cardiomyopathy Dilated	Associate	7901255
Developmental Disabilities	Associate	40488356
Hypertrophy Left Ventricular	Associate	1533180
Muscle Hypotonia	Associate	40488356
Myopathy Myosin Storage	Inhibit	40488356
Myotonia Congenita	Associate	40488356
Neoplasm Metastasis	Associate	37679666
Neoplasms	Associate	37679666, 39656775
Reperfusion Injury	Associate	36555091
Rhabdomyosarcoma	Associate	33499774
Small Fiber Neuropathy	Associate	40488356
Squamous Cell Carcinoma of Head and Neck	Associate	33737696, 37679666

MYL1 (myosin light chain 1)