Homo sapiens Gene: MYL3

Summary
InnateDB Gene IDBG-30905.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol MYL3
Gene Name myosin, light chain 3, alkali; ventricular, skeletal, slow
Synonyms CMH8; MLC1SB; MLC1V; VLC1
Species Homo sapiens
Ensembl Gene ENSG00000160808
Encoded Proteins
IDBP-30907 myosin, light chain 3, alkali; ventricular, skeletal, slow
IDBP-238689 myosin, light chain 3, alkali; ventricular, skeletal, slow
IDBP-374763 myosin, light chain 3, alkali; ventricular, skeletal, slow
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3: 46899362-46923659
Strand Reverse strand
Band p21.31
Transcripts
ENST00000292327  ENSP00000292327
ENST00000395869  ENSP00000379210
ENST00000431168  ENSP00000393455
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein‑Protein  9
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0003774 motor activity
GO:0003785 actin monomer binding
GO:0005509 calcium ion binding
GO:0008307 structural constituent of muscle
GO:0032038 myosin II heavy chain binding
Biological Process
GO:0002026 regulation of the force of heart contraction
GO:0006942 regulation of striated muscle contraction
GO:0007519 skeletal muscle tissue development
GO:0030049 muscle filament sliding
GO:0032781 positive regulation of ATPase activity
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction
Cellular Component
GO:0005829 cytosol
GO:0005859 muscle myosin complex
GO:0016459 myosin complex
GO:0030017 sarcomere
GO:0031672 A band
GO:0031674 I band
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000059741 Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
ENSBTAG00000008394 Not yet available Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
REACT_16969 Striated Muscle Contraction
KEGG
hsa04260  Cardiac muscle contraction
hsa05414  Dilated cardiomyopathy
hsa05410  Hypertrophic cardiomyopathy (HCM)
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P08590 
TrEMBL E9PGV7 Q14909
UniProt Splice Variant
Entrez Gene 4634 
UniGene Hs.517939 Hs.713332
RefSeq NM_000258 
HUGO 7584 
OMIM 160790
CCDS CCDS2746 
HPRD 01183
IMGT
EMBL AC109583 AF174483 AK312044 BC009790 CH471055 M24122 M24242 M24243 M24244 M24245 M24246 M24247 M76408 X07373
GenPept AAA59851  AAA59894  AAA59895  AAF91089  AAH09790  BAG34981  CAA30292  EAW64791 
ImmGen MYL3 (murine) 
RNA Seq Atlas 4634