Description: Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA. RefSeq Summary (NM_000258): MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr3:46,899,357-46,904,973 Size: 5,617 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr3:46,899,734-46,904,880 Size: 5,147 Coding Exon Count: 6
ID:MYL3_HUMAN DESCRIPTION: RecName: Full=Myosin light chain 3; AltName: Full=Cardiac myosin light chain 1; Short=CMLC1; AltName: Full=Myosin light chain 1, slow-twitch muscle B/ventricular isoform; Short=MLC1SB; AltName: Full=Ventricular/slow twitch myosin alkali light chain; FUNCTION: Regulatory light chain of myosin. Does not bind calcium. SUBUNIT: Myosin is a hexamer of 2 heavy chains and 4 light chains. PTM: The N-terminus is blocked. PTM: N-terminus is methylated by METTL11A/NTM1 (By similarity). DISEASE: Defects in MYL3 are the cause of familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH8 inheritance can be autosomal dominant or recessive. SIMILARITY: Contains 3 EF-hand domains. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYL3";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P08590
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
