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FLASH GENE
Symbol MYL1 contributors: mct - updated : 07-09-2016
HGNC name myosin, light polypeptide 1, alkali; skeletal, fast
HGNC id 7582
Location 2q34      Physical location : 211.154.868 - 211.179.895
Synonym name fast skeletal myosin alkali light chain 1
Synonym symbol(s) MLC1-F, MLC3-F, MYLFS, MLC1F, MLC3F, mLC
DNA
TYPE functioning gene
STRUCTURE 25.03 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   enhancer
text structure
  • two enhancer elements have been identified at the mammalian Mlc1f/3f locus, a 3 prime element active at all developmental stages and an intronic enhancer activated during fetal development
  • MAPPING cloned Y linked   status confirmed
    Physical map
    CRYGB 2q33-q35 crystallin, gamma B CRYGA 2q33-q35 crystallin, gamma A LOC389073 2 similar to RIKEN cDNA D630023F18 LOC130429 2q34 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) IDH1 2q32-qter isocitrate dehydrogenase 1 (NADP+), soluble PIP5K3 2q34 phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III LOC391478 2 similar to ARP2/3 complex 41 kDa subunit (P41-ARC) (Actin-related protein 2/3 complex subunit 1B) PTHR2 2q33 parathyroid hormone receptor 2 LOC130195 2q34 similar to Heat shock cognate 71 kDa protein LOC391479 2 similar to Chain  , Heat-Shock Cognate 70 Kd Protein (44 Kd Atpase N-Terminal Fragment) (E.C.3.6.1.3) Mutant With Thr 204 Replaced By Val (T204v) LOC389074 LOC391480 2 similar to PKP4 protein MAP2 2q34 microtubule-associated protein 2 FLJ33496 SNAI1L1 2q34 snail homolog 1 like 1 (Drosophila) RPE 2q32-q33.3 ribulose-5-phosphate-3-epimerase FLJ23861 2q34 hypothetical protein FLJ23861 ACADL 2q34 acyl-Coenzyme A dehydrogenase, long chain MYL1 2q34 myosin, light polypeptide 1, alkali; skeletal, fast LANCL1 2q33-q35 LanC lantibiotic synthetase component C-like 1 (bacterial) CPS1 2q35 carbamoyl-phosphate synthetase 1, mitochondrial PRO0132 2q34 PRO0132 protein ERBB4 2q34 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
    RNA
    TRANSCRIPTS type messenger
    text
  • two alkali myosin light chains, Mlc1f and Mlc3f, from two promoters that are differentially regulated during development (PMID: 18062958)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 1045 21 194 - 2008 18957633
  • variant 1f, fast skeletal muscle isoform myosin light chain 1
  • Mlc1f promoter is active in embryonic, fetal and adult fast skeletal muscle
  • inhibited the transition of the cell cycle from the G1 to the S phase
  • may negatively regulate proliferation of myoblasts through inhibition of the transition from the G1 to the S phase of the cell cycle
  • 7 splicing 862 16.6 150 - 2008 18957633
  • variant 3f
  • Mlc3f promoter is upregulated during fetal development and remains on in adult fast skeletal muscle
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivepharynx   highly
    Reproductivemale systemprostate  highly
    Respiratorylung    
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four transcriptional domains with left and right compoment
  • two heavy chains and four light chains
  • three EF-hand domains
  • mono polymer hexamer
    HOMOLOGY
    interspecies homolog to murine Mylf
    homolog to Drosophila Mlc-c
    homolog to C.elegans T12D8.6
    Homologene
    FAMILY
    CATEGORY motor/contractile , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • regulatory light chain of myosin
  • play a vital role in embryonic, fetal, and adult skeletal muscle development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component hexameric ATPase cellular motor protein composed of two heavy chains, two nonphosphorylable alkali light chains and two phosphorylable regulatory light chains
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP
    protein
  • PARD3 plays an important role in the modulation of intestinal barrier function by regulating delivery of occludin as well as suppression of MYL1 phosphorylation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism other
  • polymorphism of intron MYL1 was associated with endurance performance, specifically in endurance trainability
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS