Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4638
Gene name Gene Name - the full gene name approved by the HGNC.
Myosin light chain kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYLK
Synonyms (NCBI Gene) Gene synonyms aliases
AAT7, KRP, MLCK, MLCK1, MLCK108, MLCK210, MMIHS, MMIHS1, MSTP083, MYLK-L, MYLK1, smMLCK
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.1
Summary Summary of gene provided in NCBI Entrez 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 fila
SNPs SNP information provided by dbSNP.
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.
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 assay, qRT-PCR, Western blot 24486510
MIRT717749 hsa-miR-8063 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600922 7590 ENSG00000065534
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Aortic Aneurysm aortic aneurysm, familial thoracic 7 rs1382893400, rs886229659, rs1430822242, rs1553781304, rs1576422965, rs1060502531, rs2059732940, rs387906781, rs1553795301, rs1553803235, rs387906782, rs1553780501, rs1553785222 N/A
Berdon syndrome Megacystis, microcolon, hypoperistalsis syndrome rs1553787823 N/A
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 rs1553787619 N/A
Thoracic Aortic Aneurysm And Aortic Dissection familial thoracic aortic aneurysm and aortic dissection rs387906781, rs1553808296, rs387906782 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital Aneurysm Of Ascending Aorta congenital aneurysm of ascending aorta N/A N/A ClinVar
Connective Tissue Disease Connective tissue disorder, connective tissue disorder N/A N/A ClinVar, GenCC
Loeys-Dietz Syndrome loeys-dietz syndrome N/A N/A ClinVar
Marfan Syndrome marfan syndrome N/A N/A ClinVar
Associations from Text Mining Disease 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