Gene Gene information from NCBI Gene database.
Entrez ID 4638
Gene name Myosin light chain kinase
Gene symbol MYLK
Synonyms (NCBI Gene)
AAT7KRPMLCKMLCK1MLCK108MLCK210MMIHSMMIHS1MSTP083MYLK-LMYLK1smMLCK
Chromosome 3
Chromosome location 3q21.1
Summary 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
SNPs SNP information provided by dbSNP.
23
SNP ID Visualize variation Clinical significance Consequence
rs56378658 C>T Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Coding sequence variant, missense variant, genic upstream transcript variant
rs78118111 G>A,C Likely-benign, benign, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs113607507 G>A Conflicting-interpretations-of-pathogenicity, benign, likely-benign Genic upstream transcript variant, intron variant
rs150378280 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Genic upstream transcript variant, coding sequence variant, synonymous variant
rs199988497 C>T Benign, conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
679
miRTarBase ID miRNA Experiments Reference
MIRT016318 hsa-miR-193b-3p Microarray 20304954
MIRT020526 hsa-miR-155-5p Other 20584899
MIRT021378 hsa-miR-9-5p Microarray 17612493
MIRT020526 hsa-miR-155-5p Luciferase reporter assayqRT-PCRWestern blot 24486510
MIRT717749 hsa-miR-8063 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001725 Component Stress fiber IBA
GO:0001725 Component Stress fiber IDA 15020676
GO:0001725 Component Stress fiber IEA
GO:0003779 Function Actin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600922 7590 ENSG00000065534
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15746
Protein 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]
Protein 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
PDB 2CQV , 2K0F , 2YR3 , 5JQA , 5JTH , 6C6M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 33 123 Immunoglobulin I-set domain Domain
PF07679 I-set 161 250 Immunoglobulin I-set domain Domain
PF16620 23ISL 251 412 Disordered
PF07679 I-set 414 504 Immunoglobulin I-set domain Domain
PF07679 I-set 514 600 Immunoglobulin I-set domain Domain
PF07679 I-set 623 712 Immunoglobulin I-set domain Domain
PF07679 I-set 721 811 Immunoglobulin I-set domain Domain
PF07679 I-set 1098 1187 Immunoglobulin I-set domain Domain
PF07679 I-set 1238 1327 Immunoglobulin I-set domain Domain
PF00041 fn3 1332 1416 Fibronectin type III domain Domain
PF00069 Pkinase 1464 1719 Protein kinase domain Domain
PF07679 I-set 1809 1899 Immunoglobulin I-set domain Domain
Tissue specificity 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
MGDVKLVASSHISKTSLSVDPSRVDSMPLTEAPAFILPPRNLCIKEGATAKFEGRVRGYP
EPQVTWHRNGQPITSGGRFLLDCGIRGTFSLVIHAVHEEDRGKYTCEATNGSGARQVTVE
LTV
EGSFAKQLGQPVVSKTLGDRFSAPAVETRPSIWGECPPKFATKLGRVVVKEGQMGRF
SCKITGRPQPQVTWLKGNVPLQPSARVSVSEKNGMQVLEIHGVNQDDVGVYTCLVVNGSG
KASMSAELSI
QGLDSANRSFVRETKATNSDVRKEVTNVISKESKLDSLEAAAKSKNCSSP
QRGGSPPWAANSQPQPPRESKLESCKDSPRTAPQTPVLQKTSSSITLQAARVQPEPRAPG
LGVLSPSGEERKRPAPPRPATFPTRQPGLGSQDVVSKAANRRIPMEGQRDSA
FPKFESKP
QSQEVKENQTVKFRCEVSGIPKPEVAWFLEGTPVRRQEGSIEVYEDAGSHYLCLLKARTR
DSGTYSCTASNAQGQLSCSWTLQV
ERLAVMEVAPSFSSVLKDCAVIEGQDFVLQCSVRGT
PVPRITWLLNGQPIQYARSTCEAGVAELHIQDALPEDHGTYTCLAENALGQVSCSAWVTV

HEKKSSRKSEYLLPVAPSKPTAPIFLQGLSDLKVMDGSQVTMTVQVSGNPPPEVIWLHNG
NEIQESEDFHFEQRGTQHSLCIQEVFPEDTGTYTCEAWNSAGEVRTQAVLTV
QEPHDGTQ
PWFISKPRSVTASLGQSVLISCAIAGDPFPTVHWLRDGKALCKDTGHFEVLQNEDVFTLV
LKKVQPWHAGQYEILLKNRVGECSCQVSLML
QNSSARALPRGREPASCEDLCGGGVGADG
GGSDRYGSLRPGWPARGQGWLEEEDGEDVRGVLKRRVETRQHTEEAIRQQEVEQLDFRDL
LGKKVSTKTLSEDDLKEIPAEQMDFRANLQRQVKPKTVSEEERKVHSPQQVDFRSVLAKK
GTSKTPVPEKVPPPKPATPDFRSVLGGKKKLPAENGSSSAETLNAKAVESSKPLSNAQPS
GPLKPVGNAKPAETLKPMGNAKPAETLKPMGNAKPDENLKSASKEELKKDVKNDVNCKRG
HAGTTDNEKRSESQGTAPAFKQKLQDVHVAEGKKLLLQCQVSSDPPATIIWTLNGKTLKT
TKFIILSQEGSLCSVSIEKALPEDRGLYKCVAKNDAGQAECSCQVTV
DDAPASENTKAPE
MKSRRPKSSLPPVLGTESDATVKKKPAPKTPPKAAMPPQIIQFPEDQKVRAGESVELFGK
VTGTQPITCTWMKFRKQIQESEHMKVENSENGSKLTILAARQEHCGCYTLLVENKLGSRQ
AQVNLTV
VDKPDPPAGTPCASDIRSSSLTLSWYGSSYDGGSAVQSYSIEIWDSANKTWKE
LATCRSTSFNVQDLLPDHEYKFRVRAINVYGTSEPS
QESELTTVGEKPEEPKDEVEVSDD
DEKEPEVDYRTVTINTEQKVSDFYDIEERLGSGKFGQVFRLVEKKTRKVWAGKFFKAYSA
KEKENIRQEISIMNCLHHPKLVQCVDAFEEKANIVMVLEIVSGGELFERIIDEDFELTER
ECIKYMRQISEGVEYIHKQGIVHLDLKPENIMCVNKTGTRIKLIDFGLARRLENAGSLKV
LFGTPEFVAPEVINYEPIGYATDMWSIGVICYILVSGLSPFMGDNDNETLANVTSATWDF
DDEAFDEISDDAKDFISNLLKKDMKNRLDCTQCLQHPWL
MKDTKNMEAKKLSKDRMKKYM
ARRKWQKTGNAVRAIGRLSSMAMISGLSGRKSSTGSPTSPLNAEKLESEEDVSQAFLEAV
AEEKPHVKPYFSKTIRDLEVVEGSAARFDCKIEGYPDPEVVWFKDDQSIRESRHFQIDYD
EDGNCSLIISDVCGDDDAKYTCKAVNSLGEATCTAELIV
ETMEEGEGEGEEEEE
Sequence length 1914
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
cGMP-PKG signaling pathway
Vascular smooth muscle contraction
Apelin signaling pathway
Focal adhesion
Platelet activation
Regulation of actin cytoskeleton
Oxytocin signaling pathway
Gastric acid secretion
  Smooth Muscle Contraction
RHO GTPases activate PAKs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3173
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aortic aneurysm, familial thoracic 7 Likely pathogenic; Pathogenic rs1237794394, rs2108273387, rs1047937861, rs2108006223, rs2108273583, rs2059058650, rs2107974888, rs2108578389, rs2108112355, rs2108340106, rs2474180246, rs2474176082, rs2473640876, rs886229659, rs1553781304
View all (18 more)
RCV001379261
RCV001380831
RCV001876664
RCV002036733
RCV001941678
RCV001911117
RCV001947252
RCV002035299
RCV001963882
RCV001945438
RCV002659694
RCV002843539
RCV002880225
RCV000515772
RCV000515767
RCV003525750
RCV003641330
RCV003641852
RCV003640440
RCV003873889
RCV000023044
RCV000023045
RCV000462848
RCV000551323
RCV000537895
RCV000648731
RCV000648714
RCV000648720
RCV000695043
RCV000855690
RCV001065860
RCV001236095
RCV001258091
Familial thoracic aortic aneurysm and aortic dissection Likely pathogenic; Pathogenic rs387906781, rs387906782, rs1553808296, rs1382893400 RCV000603875
RCV001798012
RCV000615028
RCV005682348
Isolated thoracic aortic aneurysm Likely pathogenic rs2108577268 RCV001374783
Megacystis, microcolon, hypoperistalsis syndrome Pathogenic rs1553787823 RCV001804175
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aortic aneurysm, familial abdominal, 1 Conflicting classifications of pathogenicity rs202177283 RCV000157376
Aortic aneurysm, familial thoracic 6 Benign; Likely benign rs3732485 RCV000211453
Atrial septal defect Uncertain significance rs368390254 RCV000582875
Cardiovascular phenotype Benign; Likely benign; Uncertain significance rs41431347, rs2059420069 RCV000620342
RCV005406004
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 27538918
Acute Lung Injury Associate 16399953, 16877634, 26111161
Adenocarcinoma of Lung Associate 25292047
Adie Syndrome Associate 24889065
Alzheimer Disease Associate 33083483
Aneurysm Associate 29544503
Aortic Aneurysm Abdominal Associate 11436088, 34852854
Aortic Aneurysm Familial Abdominal 1 Inhibit 11436088
Aortic Aneurysm Familial Thoracic 1 Associate 27586135, 29510914
Aortic Aneurysm Thoracic Associate 26017485, 26854089