This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a sepa... See more...

Aliases for MYLK Gene

Aliases for MYLK Gene

  • Myosin Light Chain Kinase 2 3 5
  • SmMLCK 2 3 4
  • MLCK1 2 3 4
  • MYLK1 2 3 4
  • MLCK 2 3 4
  • Myosin Light Chain Kinase, Smooth Muscle 3 4
  • Smooth Muscle Myosin Light Chain Kinase 2 3
  • Myosin, Light Polypeptide Kinase 2 3
  • Kinase-Related Protein 3 4
  • EC 2.7.11.18 4 51
  • Telokin 3 4
  • KRP 3 4
  • EC 2.7.11 51
  • MLCK108 3
  • MLCK210 3
  • MSTP083 3
  • MMIHS 3
  • AAT7 3
  • MYLK 5

External Ids for MYLK Gene

Previous GeneCards Identifiers for MYLK Gene

  • GC03M120053
  • GC03M123281
  • GC03M124614
  • GC03M124653
  • GC03M124813
  • GC03M120704

Summaries for MYLK Gene

Entrez Gene Summary for MYLK Gene

  • This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYLK Gene

MYLK (Myosin Light Chain Kinase) is a Protein Coding gene. Diseases associated with MYLK include Aortic Aneurysm, Familial Thoracic 7 and Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is DAPK1.

UniProtKB/Swiss-Prot Summary for MYLK Gene

  • Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessary for physiological and asthmatic airway resistance. Necessary for gastrointestinal motility. Implicated in the regulation of endothelial as well as vascular permeability, probably via the regulation of cytoskeletal rearrangements. In the nervous system it has been shown to control the growth initiation of astrocytic processes in culture and to participate in transmitter release at synapses formed between cultured sympathetic ganglion cells. Critical participant in signaling sequences that result in fibroblast apoptosis. Plays a role in the regulation of epithelial cell survival. Required for epithelial wound healing, especially during actomyosin ring contraction during purse-string wound closure. Mediates RhoA-dependent membrane blebbing. Triggers TRPC5 channel activity in a calcium-dependent signaling, by inducing its subcellular localization at the plasma membrane. Promotes cell migration (including tumor cells) and tumor metastasis. PTK2B/PYK2 activation by phosphorylation mediates ITGB2 activation and is thus essential to trigger neutrophil transmigration during acute lung injury (ALI). May regulate optic nerve head astrocyte migration. Probably involved in mitotic cytoskeletal regulation. Regulates tight junction probably by modulating ZO-1 exchange in the perijunctional actomyosin ring. Mediates burn-induced microvascular barrier injury; triggers endothelial contraction in the development of microvascular hyperpermeability by phosphorylating MLC. Essential for intestinal barrier dysfunction. Mediates Giardia spp.-mediated reduced epithelial barrier function during giardiasis intestinal infection via reorganization of cytoskeletal F-actin and tight junctional ZO-1. Necessary for hypotonicity-induced Ca(2+) entry and subsequent activation of volume-sensitive organic osmolyte/anion channels (VSOAC) in cervical cancer cells. Responsible for high proliferative ability of breast cancer cells through anti-apoptosis.

Tocris Summary for MYLK Gene

  • Myosin Light Chain Kinases (MLCKs) are a group of protein serine/threonine kinases that are currently divided into two subtypes. MLCK1 is found in smooth muscle and phosphorylates myosin II regulatory light chains at Ser19. MLCK2 is located in the striated muscle.

Gene Wiki entry for MYLK Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYLK Gene

Genomics for MYLK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYLK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J123799 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.2 +84.5 84476 1.7 HNRNPL GATAD2A RBFOX2 IRF2 SP1 CEBPA KMT2B MNT SOX13 TAF1 MYLK KALRN KX603653 ENSG00000207002 lnc-CCDC14-2 HACD2
GH03J123883 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.3 331 2.4 PRDM10 KDM1A PRDM1 PATZ1 POLR2A ZNF600 ZNF341 KLF9 ZNF316 USF1 MYLK CCDC14 lnc-CCDC14-2 HACD2
GH03J123617 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 600.1 +264.4 264442 5.4 PRDM10 ZHX2 GTF2F1 SCRT2 CTBP1 CEBPB ZNF444 ZSCAN5C FOXA2 ZNF592 MYLK HACD2 MYLK-AS1 lnc-HACD2-3 lnc-HACD2-2
GH03J123788 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 600.2 +92.8 92814 6.1 ZBTB33 SCRT2 JUND NFE2 ZNF316 FOS MAFG NFE2L2 JUN GATA2 MYLK ENSG00000207002 KX603653 lnc-CCDC14-2 piR-42694-113 HACD2
GH03J123651 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.8 +226.9 226889 11.7 GATAD2A CTCF PRDM10 REST RCOR2 ZNF143 ZIC2 ZSCAN4 PKNOX1 RXRB HACD2 MYLK MYLK-AS2 MYLK-AS1 ROPN1 lnc-HACD2-4 lnc-HACD2-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYLK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYLK

Top Transcription factor binding sites by QIAGEN in the MYLK gene promoter:
  • AML1a
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXO1
  • FOXO1a
  • GATA-2
  • p53
  • Pax-4a
  • STAT5A

Genomic Locations for MYLK Gene

Genomic Locations for MYLK Gene
chr3:123,610,049-123,884,332
(GRCh38/hg38)
Size:
274,284 bases
Orientation:
Minus strand
chr3:123,328,896-123,603,178
(GRCh37/hg19)
Size:
274,283 bases
Orientation:
Minus strand

Genomic View for MYLK Gene

Genes around MYLK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYLK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYLK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYLK Gene

Proteins for MYLK Gene

  • Protein details for MYLK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15746-MYLK_HUMAN
    Recommended name:
    Myosin light chain kinase, smooth muscle
    Protein Accession:
    Q15746
    Secondary Accessions:
    • B4DUE3
    • D3DN97
    • O95796
    • O95797
    • O95798
    • O95799
    • Q14844
    • Q16794
    • Q17S15
    • Q3ZCP9
    • Q5MY99
    • Q5MYA0
    • Q6P2N0
    • Q7Z4J0
    • Q9C0L5
    • Q9UBG5
    • Q9UBY6
    • Q9UIT9

    Protein attributes for MYLK Gene

    Size:
    1914 amino acids
    Molecular mass:
    210715 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • All isoforms including Telokin bind calmodulin. Interacts with SVIL (By similarity). Interacts with CTTN; this interaction is reduced during thrombin-induced endothelial cell (EC) contraction but is promoted by the barrier-protective agonist sphingosine 1-phosphate (S1P) within lamellipodia. A complex made of ABL1, CTTN and MYLK regulates cortical actin-based cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated endothelial cell (EC) barrier enhancement. Binds to NAA10/ARD1 and PTK2B/PYK2.
    SequenceCaution:
    • Sequence=AAD15922.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAD15923.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAD15924.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • In asthmatic patients, overexpression promotes actin filament propulsion, thus contributing to airway hyperresponsiveness. Some MYLK variants may contribute to acute lung injury (ALI) susceptibility. Potential therapeutic target in the treatment of burn edema.
    • [Isoform 5]: Transcribed from an alternative promoter resulting in the usage of Met-923 as initiator codon.
    • [Isoform 6]: Transcribed from an alternative promoter resulting in the usage of Met-1761 as initiator codon. Has no catalytic activity. Initiator Met is removed.
    • [Isoform 8]: Transcribed from an alternative promoter resulting in the usage of Met-1761 as initiator codon. Initiator Met is removed.
    • [Isoform 9]: Transcribed from an alternative promoter resulting in the usage of Met-923 as initiator codon.

    Three dimensional structures from OCA and Proteopedia for MYLK Gene

    Alternative splice isoforms for MYLK Gene

neXtProt entry for MYLK Gene

Selected DME Specific Peptides for MYLK Gene

Q15746:
  • KPAETLKP
  • SCQVTVD
  • SEEDVSQ
  • AARFDCKI
  • VCGDDDAKYTCKAVNSLGEATCTAEL
  • EVVEGSAARFDCKIEGYPDPEV
  • TKNMEAKKLSK
  • AVRAIGRLSSMAMISG
  • IVHLDLKP
  • QFPEDQKVRAGE
  • GELFERI
  • GKYTCEA
  • YTCKAVN
  • QEHCGCYTL
  • KVRAGESVELF
  • GTPEFVAPE
  • VAEEKPHVKPYF
  • VENKLGSRQAQVNLTVVDKPDPPAGTPCASDIRSSSLTL

Post-translational modifications for MYLK Gene

  • Can probably be down-regulated by phosphorylation. Tyrosine phosphorylation by ABL1 increases kinase activity, reverses MLCK-mediated inhibition of Arp2/3-mediated actin polymerization, and enhances CTTN-binding. Phosphorylation by SRC at Tyr-464 and Tyr-471 promotes CTTN binding.
  • The C-terminus is deglutamylated by AGTPBP1/CCP1, AGBL1/CCP4 and AGBL4/CCP6, leading to the formation of Myosin light chain kinase, smooth muscle, deglutamylated form. The consequences of C-terminal deglutamylation are unknown (By similarity).
  • Acetylated at Lys-608 by NAA10/ARD1 via a calcium-dependent signaling; this acetylation represses kinase activity and reduces tumor cell migration.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for MYLK Gene

Gene Families for MYLK Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MYLK Gene

Suggested Antigen Peptide Sequences for MYLK Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53659, highly similar to Myosin light chain kinase, smooth muscle (EC2.7.11.18) (B4DUE3_HUMAN)
  • Myosin, light polypeptide kinase, isoform CRA_d (D3DN97_HUMAN)
  • Telokin (MYLK_HUMAN)
  • MYLK protein (Q05B97_HUMAN)
  • MYLK protein (Q05B98_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15746

UniProtKB/Swiss-Prot:

MYLK_HUMAN :
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
genes like me logo Genes that share domains with MYLK: view

Function for MYLK Gene

Molecular function for MYLK Gene

UniProtKB/Swiss-Prot Function:
Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessary for physiological and asthmatic airway resistance. Necessary for gastrointestinal motility. Implicated in the regulation of endothelial as well as vascular permeability, probably via the regulation of cytoskeletal rearrangements. In the nervous system it has been shown to control the growth initiation of astrocytic processes in culture and to participate in transmitter release at synapses formed between cultured sympathetic ganglion cells. Critical participant in signaling sequences that result in fibroblast apoptosis. Plays a role in the regulation of epithelial cell survival. Required for epithelial wound healing, especially during actomyosin ring contraction during purse-string wound closure. Mediates RhoA-dependent membrane blebbing. Triggers TRPC5 channel activity in a calcium-dependent signaling, by inducing its subcellular localization at the plasma membrane. Promotes cell migration (including tumor cells) and tumor metastasis. PTK2B/PYK2 activation by phosphorylation mediates ITGB2 activation and is thus essential to trigger neutrophil transmigration during acute lung injury (ALI). May regulate optic nerve head astrocyte migration. Probably involved in mitotic cytoskeletal regulation. Regulates tight junction probably by modulating ZO-1 exchange in the perijunctional actomyosin ring. Mediates burn-induced microvascular barrier injury; triggers endothelial contraction in the development of microvascular hyperpermeability by phosphorylating MLC. Essential for intestinal barrier dysfunction. Mediates Giardia spp.-mediated reduced epithelial barrier function during giardiasis intestinal infection via reorganization of cytoskeletal F-actin and tight junctional ZO-1. Necessary for hypotonicity-induced Ca(2+) entry and subsequent activation of volume-sensitive organic osmolyte/anion channels (VSOAC) in cervical cancer cells. Responsible for high proliferative ability of breast cancer cells through anti-apoptosis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[myosin light chain]-L-serine + ATP = [myosin light chain]-O-phospho-L-serine + ADP + H(+); Xref=Rhea:RHEA:22004, Rhea:RHEA-COMP:13684, Rhea:RHEA-COMP:13685, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.18;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[myosin light chain]-L-threonine + ATP = [myosin light chain]-O-phospho-L-threonine + ADP + H(+); Xref=Rhea:RHEA:53900, Rhea:RHEA-COMP:13686, Rhea:RHEA-COMP:13687, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.18;.
UniProtKB/Swiss-Prot Induction:
Accumulates in individuals with asthma (at protein levels). Induced by tumor necrosis factor (TNF). Repressed by androgens (e.g. R1881).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=6.5 uM for MLC (isoform 1 at 22 degrees Celsius) {ECO:0000269|PubMed:11113114}; KM=7.2 uM for MLC (isoform 2 at 22 degrees Celsius) {ECO:0000269|PubMed:11113114}; KM=9.3 uM for MLC {ECO:0000269|PubMed:29544503}; Vmax=11.9 umol/min/mg enzyme (isoform 1 at 22 degrees Celsius) {ECO:0000269|PubMed:11113114}; Vmax=10.9 umol/min/mg enzyme (isoform 1 at 22 degrees Celsius) {ECO:0000269|PubMed:11113114};
UniProtKB/Swiss-Prot EnzymeRegulation:
Isoform 1 is activated by phosphorylation on Tyr-464 and Tyr-471. Isoforms which lack these tyrosine residues are not regulated in this way. All catalytically active isoforms require binding to calcium and calmodulin for activation. Repressed by organometallic pyridylnaphthalimide complexes, wortmannin, ML-7 (a synthetic naphthalenesulphonyl derivative that inhibits the binding of ATP to MLCK) and ML-9.
GENATLAS Biochemistry:
myosin,light chain kinase,Ca2+/calmodulin dependent,expressed in smooth muscle and four non muscle isoforms,including a short isoform named telokin (KRP-kinase related protein),expressed noteworthy in neurons and glia,in liver,lung and kidney and endothelial cells (hippocampus,entorhinal and frontal cortex),stimulating myosin ATPase activity without phosphorylating myosin light chain

Enzyme Numbers (IUBMB) for MYLK Gene

Phenotypes From GWAS Catalog for MYLK Gene

Gene Ontology (GO) - Molecular Function for MYLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003779 actin binding IEA --
GO:0004672 protein kinase activity IBA 21873635
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004687 myosin light chain kinase activity TAS,IDA 16284075
genes like me logo Genes that share ontologies with MYLK: view
genes like me logo Genes that share phenotypes with MYLK: view

Human Phenotype Ontology for MYLK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYLK Gene

MGI Knock Outs for MYLK:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYLK

No data available for Transcription Factor Targets and HOMER Transcription for MYLK Gene

Localization for MYLK Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYLK Gene

Cytoplasm. Cell projection, lamellipodium. Cleavage furrow. Cytoplasm, cytoskeleton, stress fiber. Note=Localized to stress fibers during interphase and to the cleavage furrow during mitosis. {ECO:0000269 PubMed:15020676}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYLK gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
extracellular 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (4)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IBA,IDA 15020676
GO:0005737 cytoplasm IBA,IDA 20053363
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with MYLK: view

Pathways & Interactions for MYLK Gene

genes like me logo Genes that share pathways with MYLK: view

Pathways by source for MYLK Gene

6 GeneGo (Thomson Reuters) pathways for MYLK Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
  • Immune response CCR3 signaling in eosinophils
  • Inhibitory action of Lipoxins on neutrophil migration
14 Qiagen pathways for MYLK Gene
  • Actin-Based Motility by Rho Family GTPases
  • CCR3 Pathway in Eosinophils
  • CDC42 Pathway
  • Cellular Effects of Sildenafil
  • ERK Signaling

SIGNOR curated interactions for MYLK Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MYLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation TAS,IEA --
GO:0006936 muscle contraction TAS --
GO:0006939 smooth muscle contraction IBA,ISS --
GO:0014820 tonic smooth muscle contraction IBA,ISS --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with MYLK: view

Drugs & Compounds for MYLK Gene

(29) Drugs for MYLK Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0
ML 9 hydrochloride Pharma Myosin light chain kinase inhibitor 0
MLCK inhibitor peptide 18 Pharma Selective inhibitor of myosin light chain kinase 0

(13) Additional Compounds for MYLK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0

(2) Tocris Compounds for MYLK Gene

Compound Action Cas Number
ML 9 hydrochloride Myosin light chain kinase inhibitor 105637-50-1
MLCK inhibitor peptide 18 Selective inhibitor of myosin light chain kinase 224579-74-2

(4) ApexBio Compounds for MYLK Gene

Compound Action Cas Number
GF 109203X Protein kinase C,MLCK,PKG and PKA inhibitor 133052-90-1
ML 9 hydrochloride 105637-50-1
ML-7 hydrochloride Myosin light chain kinase inhibitor 110448-33-4
MLCK inhibitor peptide 18 224579-74-2
genes like me logo Genes that share compounds with MYLK: view

Drug Products

Transcripts for MYLK Gene

mRNA/cDNA for MYLK Gene

10 REFSEQ mRNAs :
48 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYLK

Alternative Splicing Database (ASD) splice patterns (SP) for MYLK Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c · 18d · 18e ^ 19 ^ 20a ·
SP1: - - - - - - - -
SP2: - - - - - -
SP3:
SP4:
SP5: - -
SP6: - -
SP7: - -
SP8: -
SP9: - -
SP10: - -
SP11:
SP12:

ExUns: 20b · 20c · 20d ^ 21a · 21b · 21c ^ 22
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - -
SP6: - -
SP7: -
SP8: - -
SP9: -
SP10: - - - - - -
SP11: -
SP12:

Relevant External Links for MYLK Gene

GeneLoc Exon Structure for
MYLK

Expression for MYLK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYLK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYLK Gene

This gene is overexpressed in Esophagus - Muscularis (x5.9), Colon - Sigmoid (x5.5), and Esophagus - Gastroesophageal Junction (x5.0).

Protein differential expression in normal tissues from HIPED for MYLK Gene

This gene is overexpressed in Prostate (10.7), Cardia (9.8), Colon muscle (8.9), and Uterus (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYLK Gene



Protein tissue co-expression partners for MYLK Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYLK

SOURCE GeneReport for Unigene cluster for MYLK Gene:

Hs.477375

mRNA Expression by UniProt/SwissProt for MYLK Gene:

Q15746-MYLK_HUMAN
Tissue specificity: Smooth muscle and non-muscle isozymes are expressed in a wide variety of adult and fetal tissues and in cultured endothelium with qualitative expression appearing to be neither tissue- nor development-specific. Non-muscle isoform 2 is the dominant splice variant expressed in various tissues. Telokin has been found in a wide variety of adult and fetal tissues. Accumulates in well differentiated enterocytes of the intestinal epithelium in response to tumor necrosis factor (TNF).

Evidence on tissue expression from TISSUES for MYLK Gene

  • Nervous system(5)
  • Intestine(4.9)
  • Lung(4.9)
  • Heart(4.7)
  • Liver(4.7)
  • Blood(4.6)
  • Eye(3.8)
  • Kidney(3.7)
  • Skin(3.6)
  • Muscle(3.5)
  • Stomach(3.3)
  • Spleen(3)
  • Pancreas(2.7)
  • Adrenal gland(2.6)
  • Gall bladder(2.6)
  • Lymph node(2.6)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYLK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • pharynx
  • skull
Thorax:
  • aorta
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MYLK: view

Orthologs for MYLK Gene

This gene was present in the common ancestor of animals.

Orthologs for MYLK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYLK 30 31
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYLK 30 31
  • 88.86 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mylk 30 17 31
  • 85.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mylk 30
  • 85.39 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MYLK 31
  • 83 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MYLK 31
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYLK 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYLK 30 31
  • 68.72 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYLK 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100489678 30
  • 54.69 (n)
Zebrafish
(Danio rerio)
Actinopterygii mylka 31
  • 71 (a)
OneToMany
mylkb 30 31
  • 65.84 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG1776 32
  • 48 (a)
Strn-Mlck 31 32
  • 6 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea ZC373.4 32
  • 43 (a)
ttn-1 31
  • 3 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10337 31
  • 36 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3256 30
Species where no ortholog for MYLK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MYLK Gene

ENSEMBL:
Gene Tree for MYLK (if available)
TreeFam:
Gene Tree for MYLK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYLK: view image

Paralogs for MYLK Gene

Paralogs for MYLK Gene

(43) SIMAP similar genes for MYLK Gene using alignment to 8 proteins:

  • MYLK_HUMAN
  • D6R9C2_HUMAN
  • F8WBL7_HUMAN
  • Q05B97_HUMAN
  • Q05B98_HUMAN
  • Q05D81_HUMAN
  • Q06S79_HUMAN
  • Q3B765_HUMAN

Pseudogenes.org Pseudogenes for MYLK Gene

genes like me logo Genes that share paralogs with MYLK: view

Variants for MYLK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYLK Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
640030 Uncertain Significance: Aortic aneurysm, familial thoracic 7 123,737,446(-) C/T MISSENSE_VARIANT
641305 Uncertain Significance: Aortic aneurysm, familial thoracic 7 123,657,206(-) C/T MISSENSE_VARIANT
642372 Uncertain Significance: Aortic aneurysm, familial thoracic 7 123,647,240(-) C/T MISSENSE_VARIANT
643654 Uncertain Significance: Aortic aneurysm, familial thoracic 7 123,734,225(-) G/A INTRON_VARIANT
644072 Uncertain Significance: Aortic aneurysm, familial thoracic 7 123,700,583(-) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MYLK Gene

Structural Variations from Database of Genomic Variants (DGV) for MYLK Gene

Variant ID Type Subtype PubMed ID
esv2281404 CNV deletion 18987734
esv3568994 CNV loss 25503493
esv3597629 CNV loss 21293372
esv3597630 CNV gain 21293372
esv3597631 CNV gain 21293372
esv3597632 CNV loss 21293372
esv3597633 CNV gain 21293372
esv998431 CNV deletion 20482838
nsv1007525 CNV loss 25217958
nsv3979 CNV insertion 18451855
nsv460837 CNV gain 19166990
nsv460838 CNV loss 19166990
nsv476748 CNV novel sequence insertion 20440878
nsv508946 CNV insertion 20534489
nsv518633 CNV gain 19592680
nsv591428 CNV gain 21841781
nsv591429 CNV loss 21841781
nsv829708 CNV gain 17160897
nsv829709 CNV loss 17160897
nsv829710 CNV gain 17160897
nsv963360 CNV duplication 23825009

Variation tolerance for MYLK Gene

Residual Variation Intolerance Score: 56.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.07; 98.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYLK Gene

Human Gene Mutation Database (HGMD)
MYLK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYLK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYLK Gene

Disorders for MYLK Gene

MalaCards: The human disease database

(33) MalaCards diseases for MYLK Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MYLK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYLK_HUMAN
  • Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269 PubMed:21055718, ECO:0000269 PubMed:28401540, ECO:0000269 PubMed:29544503}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) [MIM:249210]: An autosomal recessive disease characterized by loss of smooth muscle contraction in the bladder and intestine, resulting in abnormal intestinal mobility and pseudo-obstruction, microcolon, megacystis, abdominal pain and malnutrition. {ECO:0000269 PubMed:28602422}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MYLK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MYLK: view

No data available for Genatlas for MYLK Gene

Publications for MYLK Gene

  1. The human myosin light chain kinase (MLCK) from hippocampus: cloning, sequencing, expression, and localization to 3qcen-q21. (PMID: 8575746) Potier MC … Turnell WG (Genomics 1995) 2 3 4 23
  2. A common cortactin gene variation confers differential susceptibility to severe asthma. (PMID: 18521921) Ma SF … Garcia JG (Genetic epidemiology 2008) 3 23 41
  3. A variant of the myosin light chain kinase gene is associated with severe asthma in African Americans. (PMID: 17266121) Flores C … Garcia JG (Genetic epidemiology 2007) 3 23 41
  4. Novel polymorphisms in the myosin light chain kinase gene confer risk for acute lung injury. (PMID: 16399953) Gao L … Garcia JG (American journal of respiratory cell and molecular biology 2006) 3 23 41
  5. Novel interaction of cortactin with endothelial cell myosin light chain kinase. (PMID: 12408982) Dudek SM … Garcia JG (Biochemical and biophysical research communications 2002) 3 4 23

Products for MYLK Gene

  • Signalway ELISA kits for MYLK
  • Signalway Proteins for MYLK

Sources for MYLK Gene