MYL1 (myosin light chain 1)

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
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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
160780 7582 ENSG00000168530
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Motor proteins
Cytoskeleton in muscle cells 		  Striated Muscle Contraction
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital Myopathy With Reduce Muscle Fibers congenital myopathy with reduced type 2 muscle fibers N/A N/A ClinVar
Myopathy congenital myopathy N/A N/A GenCC
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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