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

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4632
Gene name Gene Name - the full gene name approved by the HGNC.	Myosin light chain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MYL1
Synonyms (NCBI Gene) Gene synonyms aliases	CMYO14, CMYP14, MLC-1, MLC1, MLC1/3, MLC1F, MLC3F, MYOFTA
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CMYO14, MLC1
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q34
Summary Summary of gene provided in NCBI Entrez Gene.	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(11)

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:0008307	Function	Structural constituent of muscle	IMP	30215711
GO:0008307	Function	Structural constituent of muscle	NAS	3904738
GO:0030016	Component	Myofibril	IDA	8145163
GO:0030017	Component	Sarcomere	NAS	3904738
GO:0030049	Process	Muscle filament sliding	NAS	3904738
GO:0030049	Process	Muscle filament sliding	TAS
GO:0060048	Process	Cardiac muscle contraction	IEA

MIM	HGNC	e!Ensembl
160780	7582	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.

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 Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Congenital myopathy	Congenital myopathy (disorder)	rs80358247, rs199474720, rs80358248, rs121964852, rs199474719, rs121964853, rs121964854, rs104894129, rs137853306, rs199476153, rs199476147, rs137853307, rs28930068, rs121909519, rs121909521 View all (43 more)	30215711

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Congenital myopathy with reduce muscle fibers	Congenital myopathy with reduced type 2 muscle fibers	ClinVar
Myopathy	congenital myopathy	GenCC

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining
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)