• Gene id: 4638

Gene Summary

• Gene Symbol: MYLK   Gene   UCSC   Ensembl
• Aliases: AAT7, KRP, MLCK, MLCK1, MLCK108, MLCK210, MMIHS, MSTP083, MYLK1, smMLCK
• Gene name: myosin light chain kinase
• Alternate names: myosin light chain kinase, smooth muscle, kinase-related protein, myosin, light polypeptide kinase, smooth muscle myosin light chain kinase, telokin,
• Gene location: 3q21.1 (123884331: 123610048)     Exons: 39     NC_000003.12
• Gene summary(Entrez): 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 fila
• OMIM: 276903

Protein Summary

• Protein general information: Q15746  
  • Name: Myosin light chain kinase, smooth muscle (MLCK) (smMLCK) (EC 2.7.11.18) (Kinase related protein) (KRP) (Telokin) [Cleaved into: Myosin light chain kinase, smooth muscle, deglutamylated form]
  • Length: 1914  
  • Mass: 210715
  • 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
• Sequence:

  MGDVKLVASSHISKTSLSVDPSRVDSMPLTEAPAFILPPRNLCIKEGATAKFEGRVRGYPEPQVTWHRNGQPITS
  GGRFLLDCGIRGTFSLVIHAVHEEDRGKYTCEATNGSGARQVTVELTVEGSFAKQLGQPVVSKTLGDRFSAPAVE
  TRPSIWGECPPKFATKLGRVVVKEGQMGRFSCKITGRPQPQVTWLKGNVPLQPSARVSVSEKNGMQVLEIHGVNQ
  DDVGVYTCLVVNGSGKASMSAELSIQGLDSANRSFVRETKATNSDVRKEVTNVISKESKLDSLEAAAKSKNCSSP
  QRGGSPPWAANSQPQPPRESKLESCKDSPRTAPQTPVLQKTSSSITLQAARVQPEPRAPGLGVLSPSGEERKRPA
  PPRPATFPTRQPGLGSQDVVSKAANRRIPMEGQRDSAFPKFESKPQSQEVKENQTVKFRCEVSGIPKPEVAWFLE
  GTPVRRQEGSIEVYEDAGSHYLCLLKARTRDSGTYSCTASNAQGQLSCSWTLQVERLAVMEVAPSFSSVLKDCAV
  IEGQDFVLQCSVRGTPVPRITWLLNGQPIQYARSTCEAGVAELHIQDALPEDHGTYTCLAENALGQVSCSAWVTV
  HEKKSSRKSEYLLPVAPSKPTAPIFLQGLSDLKVMDGSQVTMTVQVSGNPPPEVIWLHNGNEIQESEDFHFEQRG
  TQHSLCIQEVFPEDTGTYTCEAWNSAGEVRTQAVLTVQEPHDGTQPWFISKPRSVTASLGQSVLISCAIAGDPFP
  TVHWLRDGKALCKDTGHFEVLQNEDVFTLVLKKVQPWHAGQYEILLKNRVGECSCQVSLMLQNSSARALPRGREP
  ASCEDLCGGGVGADGGGSDRYGSLRPGWPARGQGWLEEEDGEDVRGVLKRRVETRQHTEEAIRQQEVEQLDFRDL
  LGKKVSTKTLSEDDLKEIPAEQMDFRANLQRQVKPKTVSEEERKVHSPQQVDFRSVLAKKGTSKTPVPEKVPPPK
  PATPDFRSVLGGKKKLPAENGSSSAETLNAKAVESSKPLSNAQPSGPLKPVGNAKPAETLKPMGNAKPAETLKPM
  GNAKPDENLKSASKEELKKDVKNDVNCKRGHAGTTDNEKRSESQGTAPAFKQKLQDVHVAEGKKLLLQCQVSSDP
  PATIIWTLNGKTLKTTKFIILSQEGSLCSVSIEKALPEDRGLYKCVAKNDAGQAECSCQVTVDDAPASENTKAPE
  MKSRRPKSSLPPVLGTESDATVKKKPAPKTPPKAAMPPQIIQFPEDQKVRAGESVELFGKVTGTQPITCTWMKFR
  KQIQESEHMKVENSENGSKLTILAARQEHCGCYTLLVENKLGSRQAQVNLTVVDKPDPPAGTPCASDIRSSSLTL
  SWYGSSYDGGSAVQSYSIEIWDSANKTWKELATCRSTSFNVQDLLPDHEYKFRVRAINVYGTSEPSQESELTTVG
  EKPEEPKDEVEVSDDDEKEPEVDYRTVTINTEQKVSDFYDIEERLGSGKFGQVFRLVEKKTRKVWAGKFFKAYSA
  KEKENIRQEISIMNCLHHPKLVQCVDAFEEKANIVMVLEIVSGGELFERIIDEDFELTERECIKYMRQISEGVEY
  IHKQGIVHLDLKPENIMCVNKTGTRIKLIDFGLARRLENAGSLKVLFGTPEFVAPEVINYEPIGYATDMWSIGVI
  CYILVSGLSPFMGDNDNETLANVTSATWDFDDEAFDEISDDAKDFISNLLKKDMKNRLDCTQCLQHPWLMKDTKN
  MEAKKLSKDRMKKYMARRKWQKTGNAVRAIGRLSSMAMISGLSGRKSSTGSPTSPLNAEKLESEEDVSQAFLEAV
  AEEKPHVKPYFSKTIRDLEVVEGSAARFDCKIEGYPDPEVVWFKDDQSIRESRHFQIDYDEDGNCSLIISDVCGD
  DDAKYTCKAVNSLGEATCTAELIVETMEEGEGEGEEEEE

• Structural information:
  • Protein Domains: (33..12-)
    1 (/note="Ig-like-C2-type)
    (161..24-)
    2 (/note="Ig-like-C2-type)
    (414..50-)
    3 (/note="Ig-like-C2-type)
    (514..59-)
    4 (/note="Ig-like-C2-type)
    (620..71-)
    5 (/note="Ig-like-C2-type)
    (721..82-)
    (/note="Ig-lik-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR011009  IPR015725  IPR000719  IPR017441  IPR008271  
  • Prosite: PS50853 PS50835 PS00107 PS50011 PS00108
  • CDD: cd00063 cd14191
  • PDB: 2CQV 2K0F 2YR3 5JQA 5JTH 6C6M
  • PDBsum: 2CQV 2K0F 2YR3 5JQA 5JTH 6C6M
  • STRING: ENSP00000353452
• Other Databases: GeneCards:  MYLK  Malacards:  MYLK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004687	myosin light chain kinase activity	IBA	molecular function
GO:0006939	smooth muscle contraction	IBA	biological process
GO:0001725	stress fiber	IBA	cellular component
GO:0004672	protein kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0014820	tonic smooth muscle contraction	IBA	biological process
GO:0030027	lamellipodium	IBA	cellular component
GO:0032154	cleavage furrow	IBA	cellular component
GO:0072358	cardiovascular system development	IBA	biological process
GO:0090303	positive regulation of wound healing	IDA	biological process
GO:0071476	cellular hypotonic response	IDA	biological process
GO:0051928	positive regulation of calcium ion transport	IDA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0004687	myosin light chain kinase activity	IDA	molecular function
GO:0032154	cleavage furrow	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0001725	stress fiber	IDA	cellular component
GO:0006939	smooth muscle contraction	ISS	biological process
GO:0032060	bleb assembly	IMP	biological process
GO:0014820	tonic smooth muscle contraction	ISS	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004687	myosin light chain kinase activity	TAS	molecular function
GO:0006468	protein phosphorylation	TAS	biological process
GO:0004687	myosin light chain kinase activity	IEA	molecular function
GO:0006936	muscle contraction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060414	aorta smooth muscle tissue morphogenesis	IMP	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0032154	cleavage furrow	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa04020	Calcium signaling pathway
hsa04510	Focal adhesion
hsa04022	cGMP-PKG signaling pathway
hsa04921	Oxytocin signaling pathway
hsa04371	Apelin signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa04611	Platelet activation
hsa04971	Gastric acid secretion

Diseases

Associated diseases	References
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Adult respiratory distress syndrome	PMID:18766098
Asthma	PMID:17472811
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R