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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 nameGene Name - the full gene name approved by the HGNC.
Myosin light chain 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MYL1
SynonymsGene synonyms aliases
CMYO14, CMYP14, MLC-1, MLC1, MLC1/3, MLC1F, MLC3F, MYOFTA
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q34
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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
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
Other IDsOther 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Motor proteins
Cytoskeleton in muscle cells 		  Striated Muscle Contraction
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Congenital myopathy Congenital myopathy (disorder) rs80358247, rs199474720, rs80358248, rs121964852, rs199474719, rs121964853, rs121964854, rs104894129, rs137853306, rs199476153, rs199476147, rs137853307, rs28930068, rs121909519, rs121909521, rs121909522, rs121909523, rs121909524, rs121909529, rs121909531, rs137852801, rs387907072, rs387907073, rs387907196, rs367543049, rs398122936, rs199476146, rs606231257, rs797045950, rs768144106, rs564856283, rs876661406, rs876661407, rs886041584, rs769114543, rs1064794287, rs759242559, rs780703403, rs1421405659, rs1235665641, rs1563929454, rs1179926739, rs1565943228, rs1571893814, rs1567819905, rs1593846841, rs752326328, rs1570098248, rs1176071790, rs1392068839, rs1572148902, rs1572148914, rs1553251644, rs1571456678, rs1558081664, rs147517396, rs1577005361, rs80338778 30215711
Unknown
Disease name Disease term dbSNP ID References
Congenital myopathy with reduce muscle fibers Congenital myopathy with reduced type 2 muscle fibers rs1559659233, rs1259220084
High palate Byzanthine arch palate
Motor delay Clumsiness - motor delay

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