MYLK

Protein identityUniProt · HPA

UniProt accession

Q15746

Gene

MYLK

Ensembl

ENSG00000065534

Chromosome

3

Canonical length

1914 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Plasma membrane,Actin filaments

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1914 residues, UniProt reviewed canonical sequence.

>Q15746|MYLK
     1  MGDVKLVASS HISKTSLSVD PSRVDSMPLT EAPAFILPPR NLCIKEGATA KFEGRVRGYP
    61  EPQVTWHRNG QPITSGGRFL LDCGIRGTFS LVIHAVHEED RGKYTCEATN GSGARQVTVE
   121  LTVEGSFAKQ LGQPVVSKTL GDRFSAPAVE TRPSIWGECP PKFATKLGRV VVKEGQMGRF
   181  SCKITGRPQP QVTWLKGNVP LQPSARVSVS EKNGMQVLEI HGVNQDDVGV YTCLVVNGSG
   241  KASMSAELSI QGLDSANRSF VRETKATNSD VRKEVTNVIS KESKLDSLEA AAKSKNCSSP
   301  QRGGSPPWAA NSQPQPPRES KLESCKDSPR TAPQTPVLQK TSSSITLQAA RVQPEPRAPG
   361  LGVLSPSGEE RKRPAPPRPA TFPTRQPGLG SQDVVSKAAN RRIPMEGQRD SAFPKFESKP
   421  QSQEVKENQT VKFRCEVSGI PKPEVAWFLE GTPVRRQEGS IEVYEDAGSH YLCLLKARTR
   481  DSGTYSCTAS NAQGQLSCSW TLQVERLAVM EVAPSFSSVL KDCAVIEGQD FVLQCSVRGT
   541  PVPRITWLLN GQPIQYARST CEAGVAELHI QDALPEDHGT YTCLAENALG QVSCSAWVTV
   601  HEKKSSRKSE YLLPVAPSKP TAPIFLQGLS DLKVMDGSQV TMTVQVSGNP PPEVIWLHNG
   661  NEIQESEDFH FEQRGTQHSL CIQEVFPEDT GTYTCEAWNS AGEVRTQAVL TVQEPHDGTQ
   721  PWFISKPRSV TASLGQSVLI SCAIAGDPFP TVHWLRDGKA LCKDTGHFEV LQNEDVFTLV
   781  LKKVQPWHAG QYEILLKNRV GECSCQVSLM LQNSSARALP RGREPASCED LCGGGVGADG
   841  GGSDRYGSLR PGWPARGQGW LEEEDGEDVR GVLKRRVETR QHTEEAIRQQ EVEQLDFRDL
   901  LGKKVSTKTL SEDDLKEIPA EQMDFRANLQ RQVKPKTVSE EERKVHSPQQ VDFRSVLAKK
   961  GTSKTPVPEK VPPPKPATPD FRSVLGGKKK LPAENGSSSA ETLNAKAVES SKPLSNAQPS
  1021  GPLKPVGNAK PAETLKPMGN AKPAETLKPM GNAKPDENLK SASKEELKKD VKNDVNCKRG
  1081  HAGTTDNEKR SESQGTAPAF KQKLQDVHVA EGKKLLLQCQ VSSDPPATII WTLNGKTLKT
  1141  TKFIILSQEG SLCSVSIEKA LPEDRGLYKC VAKNDAGQAE CSCQVTVDDA PASENTKAPE
  1201  MKSRRPKSSL PPVLGTESDA TVKKKPAPKT PPKAAMPPQI IQFPEDQKVR AGESVELFGK
  1261  VTGTQPITCT WMKFRKQIQE SEHMKVENSE NGSKLTILAA RQEHCGCYTL LVENKLGSRQ
  1321  AQVNLTVVDK PDPPAGTPCA SDIRSSSLTL SWYGSSYDGG SAVQSYSIEI WDSANKTWKE
  1381  LATCRSTSFN VQDLLPDHEY KFRVRAINVY GTSEPSQESE LTTVGEKPEE PKDEVEVSDD
  1441  DEKEPEVDYR TVTINTEQKV SDFYDIEERL GSGKFGQVFR LVEKKTRKVW AGKFFKAYSA
  1501  KEKENIRQEI SIMNCLHHPK LVQCVDAFEE KANIVMVLEI VSGGELFERI IDEDFELTER
  1561  ECIKYMRQIS EGVEYIHKQG IVHLDLKPEN IMCVNKTGTR IKLIDFGLAR RLENAGSLKV
  1621  LFGTPEFVAP EVINYEPIGY ATDMWSIGVI CYILVSGLSP FMGDNDNETL ANVTSATWDF
  1681  DDEAFDEISD DAKDFISNLL KKDMKNRLDC TQCLQHPWLM KDTKNMEAKK LSKDRMKKYM
  1741  ARRKWQKTGN AVRAIGRLSS MAMISGLSGR KSSTGSPTSP LNAEKLESEE DVSQAFLEAV
  1801  AEEKPHVKPY FSKTIRDLEV VEGSAARFDC KIEGYPDPEV VWFKDDQSIR ESRHFQIDYD
  1861  EDGNCSLIIS DVCGDDDAKY TCKAVNSLGE ATCTAELIVE TMEEGEGEGE EEEE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYLK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.42

Highest tissue expression

1,933 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYLK.

Disease | AllUniProt

Conditions MYLK is implicated in, by any mechanism.

• Aortic aneurysm, familial thoracic 7 (AAT7) MIM:613780
• Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) MIM:249210

Disease | GeneticClinVar

75 pathogenic / likely-pathogenic of 2,748 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Aortic aneurysm, familial thoracic 7
• Familial thoracic aortic aneurysm and aortic dissection
• Visceral myopathy 1
• Megacystis, microcolon, hypoperistalsis syndrome
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.53

gnomAD pLI

0

gnomAD missense Z

1.13

DepMap mean gene effect

0.07

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aorta smooth muscle tissue morphogenesis
• bleb assembly
• cellular hypotonic response
• positive regulation of calcium ion transport
• positive regulation of cell migration
• positive regulation of wound healing
• protein phosphorylation
• regulation of synaptic vesicle endocytosis
• smooth muscle contraction
• tonic smooth muscle contraction

Molecular functions

• actin binding
• ATP binding
• calmodulin binding
• metal ion binding
• myosin light chain kinase activity
• scaffold protein binding

Cellular components

• actin cytoskeleton
• cleavage furrow
• cytoplasm
• cytosol
• lamellipodium
• plasma membrane
• stress fiber
• synapse

Protein domainsUniProt · Pfam · InterPro

• Protein kinase domain
• Immunoglobulin subtype 2
• Immunoglobulin domain subtype
• Fibronectin type III
• Immunoglobulin-like domain
• Serine/threonine-protein kinase, active site
• Protein kinase-like domain superfamily
• Immunoglobulin I-set
• Immunoglobulin-like fold
• Protein kinase, ATP binding site
• Fibronectin type III superfamily
• Immunoglobulin-like domain superfamily
• Fibronectin type III domain
• Protein kinase domain
• Immunoglobulin I-set domain
• Myosin Light Chain Kinase 1, Kinase domain
• Unstructured linker between I-set domains 2 and 3 on MYLCK

KeywordsUniProt

• Acetylation
• Actin-binding
• Alternative promoter usage
• Aortic aneurysm
• ATP-binding
• Calcium
• Calmodulin-binding
• Cell projection
• Cytoplasm
• Cytoskeleton
• Disulfide bond
• Immunoglobulin domain
• Kinase
• Magnesium
• Metal-binding
• Nucleotide-binding
• Phosphoprotein
• Repeat
• Serine/threonine-protein kinase
• Transferase

InteractionsUniProt · HPA

Protein binding partners of MYLK in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CTTN
• SVIL
• PTK2B
• AGBL1
• AGBL4
• AGTPBP1