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FLASH GENE
Symbol MYLK contributors: mct - updated : 25-08-2010
HGNC name myosin light chain kinase
HGNC id 7590
Location 3q21.1      Physical location : 123.331.144 - 123.603.149
Synonym name
  • smooth muscle myosin light chain kinase
  • myosin, like chain kinase, Ca2+/calmodulin dependent, smooth muscle, non muscle MLC and KRP-related kinase (telokin) common gene
  • myosin, light polypeptide kinase
  • telokin
  • Synonym symbol(s) MLCK, FLJ12216, KRP, MLCK108, MLCK210, MSTP083, MYLK1, MLCK1, DKFZp686I10125, smMLCK
    EC.number 2.7.11.18, 2.7.11.8
    DNA
    TYPE functioning gene
    STRUCTURE 272.01 kb     34 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure at least two promoters
    MAPPING cloned Y linked N status confirmed
    Map cen - D3S1278 - D3S3529 - D3S3379 - D3S1558 - D3S3515 - D3S3513 - D3S3709 - D3S3576 - D3S1267 - D3S3645 - MYLK /D3S3552 - D3S3519 - D3S3646 - D3S1269 - D3S3569 - D3S1551 - qter
    Physical map
    LOC51725 3q21.1 muscle disease-related protein HCLS1 3q13 hematopoietic cell-specific Lyn substrate 1 GOLGB1 3q13 golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1 KIAA0036 3q21.1 golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1 EAF2 3q21.1 ELL associated factor 2 SLC15A2 3p14.3-p14.1 solute carrier family 15 (H+/peptide transporter), member 2 MGC50831 3q21.1 hypothetical protein MGC50831 CD86 3q21 CD86 antigen (CD28 antigen ligand 2, B7-2 antigen) CASR 3q21-q24 calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) LOC391570 3 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP) CSTA 3q21 cystatin A (stefin A) LOC131076 3q21.1 hypothetical LOC131076 E2IG5 3q21.1 growth and transformation-dependent protein WDR5B 3q21.1 WD repeat domain 5B KPNA1 3q21 karyopherin alpha 1 (importin alpha 5) BAL 3q13-q21 B aggressive lymphoma gene LOC151636 FLJ40597 3q21.1 hypothetical protein FLJ40597 LOC339881 3q21.1 similar to eukaryotic initiation factor 4B KIAA1268 3q21.1 KIAA1268 protein HSPBAP1 3q21 HSPB (heat shock 27kDa) associated protein 1 DIRC2 3q21.1 disrupted in renal carcinoma 2 SEMA5B 3q21.1 sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B PDIR 3q21.1 for protein disulfide isomerase-related SEC22L2 3q21.1 SEC22 vesicle trafficking protein-like 2 (S. cerevisiae) ADCY5 3q13.2-q21 adenylate cyclase 5 PTPLB 3q21.1 protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b MYLK 3q21 myosin, light polypeptide kinase FLJ12892 3q21.2 hypothetical protein FLJ12892 ROPN1 3q21.2 ropporin, rhophilin associated protein 1 HAPIP q21.1-q21.2 huntingtin-associated protein interacting protein (duo) TRAD 3q21.2 serine/threonine kinase with Dbl- and pleckstrin homology domains UMPS 3q13 uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) ITGB5 3q21.2 integrin, beta 5 MUC13 3q13.3 mucin 13, epithelial transmembrane HEG 3q21.2 HEG homolog SLC12A8 3q21 solute carrier family 12 (potassium/chloride transporters), member 8 ZNF148 3q21 zinc finger protein 148 (pHZ-52) SNX4 3q21.1-q21.3 sorting nexin 4 OSBPL11 3q21 oxysterol binding protein-like 11
    regionally located not closely linked to olfactory receptor genes
    RNA
    TRANSCRIPTS type messenger
    text smooth muscle MLCK
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2679 - 154 - 2010 21055718
  • also called SM-MLCK or variant 8
  • 34 - 7852 210.7 1914 . adult, fetal tissues, nervous system (neurons, glia) and liver, lung, kidney, brain (hippocampus, entorhinal and frontal cortex), eye, aortic tissue . limited to well differentiated enterocytes, and this expression correlates closely with development of Na(+)-nutrient cotransport-dependent tight junction 2010 21055718
  • also called variant 1 or non muscle MLCK1
  • full lenght of NM-MLCK
  • isoform responsible for tight junction regulation in absorptive enterocytes
  • elevated hydrostatic pressure in glaucomas, increased the expression MYLK-210 in astrocytes
  • 3 - 2676 17 153 some smooth muscles, eye not in aorta, brain 2010 21055718
  • alsos called KRP or variant 7
  • encodes the shorter isoform of kinase related protein, telokin
  • first exon corresponds to intron 30 and the remainder of the transcript corresponds to the last two exons of the gene
  • elevated hydrostatic pressure in glaucomas, increased the expression MYLK-130 in astrocytes
  • noncatalytic protein product that affects calcium sensitivity of contraction, primarily in intestinal smooth muscle
  • 33 - 7645 203.1 1845 adult, fetal tissues Lazar, Chilcoat (2008), Miao (2010)
  • also called MLCK2 or variant 2
  • internal deletion
  • 33 - 7699 205.1 1863 adult, fetal tissues Lazar, Chilcoat (2008)
  • also called MLCK3a/b or variant 3A
  • internal deletion
  • does not utilize exon 30
  • 32 - 7492 197.4 1794 adult, fetal tissues Lazar, Chilcoat (2008)
  • also called MLCK4 or variant 3B
  • internal deletion
  • does not utilize exons 11 and 30
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveesophagus   highly
     intestinesmall intestine  highly
    Reproductivemale systemprostate  highly
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminus of the long MLCK inducing a disruption in normal spindle morphology and metaphase arrest
  • three C2-type Ig-like domains
  • a kinase domain
  • a regulatory Ca2+ binding domains
  • HOMOLOGY
    Homologene
    FAMILY
  • protein kinase superfamily
  • CAMK Ser/Thr protein kinase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text at the intercalated discs of cardiac myocytes
    basic FUNCTION
  • perijunctional myosin light chain kinase, stimulating myosin ATPase activity without phosphorylating myosin light chain
  • key enzyme in muscle contraction
  • has an unexpected regulatory function during mitosis
  • activation of perijunctional myosin light chain kinase (MLCK) is sufficient to enhance paracellular permeability and is required for tight junction barrier regulation in response to Na+-nutrient cotransport, inflammatory cytokines, or pathogenic bacteria
  • its activation is sufficient to enhance paracellular permeability and is required for tight junction barrier regulation in response to Na+-nutrient cotransport, inflammatory cytokines, or pathogenic bacteria
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • phosphorylating myosin light chain
  • interacting with TJP1 (MYLK activity is critical to TJP1, but not claudin-1, occludin, or actin) exchange at the tight junction)
  • cell & other
    REGULATION
    Other Ca2+/calmodulin dependent
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to familial thoracic aortic aneurysms leading to acute aortic dissections
    Variant & Polymorphism other heterozygous loss-of-function mutations in MYLK are associated with aortic dissections
    Candidate gene
    Marker
  • hypermethylated BRINP3 and MYLK can be used as potential biomarkers for diagnosis and pre-warning of gastric cancer
  • Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisualanterior chamber
    may be a new target for intervention in glaucoma to alter reactive astrocyte migration in the optic nerve head
    ANIMAL & CELL MODELS