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Protein

Myosin light chain kinase 2, skeletal/cardiac muscle

Gene

MYLK2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N-terminus of a myosin light chain.1 Publication

Catalytic activityi

ATP + [myosin light-chain] = ADP + [myosin light-chain] phosphate.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei314ATPPROSITE-ProRule annotation1
Active sitei406Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi291 – 299ATPPROSITE-ProRule annotation9

GO - Molecular functioni

GO - Biological processi

  • cardiac muscle contraction Source: BHF-UCL
  • cardiac muscle tissue morphogenesis Source: BHF-UCL
  • intracellular signal transduction Source: GO_Central
  • neuromuscular synaptic transmission Source: Ensembl
  • peptidyl-serine phosphorylation Source: GO_Central
  • peptidyl-threonine phosphorylation Source: UniProtKB
  • positive regulation of gene expression Source: UniProtKB
  • protein autophosphorylation Source: UniProtKB
  • regulation of muscle filament sliding Source: BHF-UCL
  • skeletal muscle cell differentiation Source: UniProtKB
  • skeletal muscle satellite cell differentiation Source: Ensembl
  • striated muscle contraction Source: BHF-UCL

Keywordsi

Molecular functionCalmodulin-binding, Kinase, Serine/threonine-protein kinase, Transferase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.11.18 2681
SignaLinkiQ9H1R3
SIGNORiQ9H1R3

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin light chain kinase 2, skeletal/cardiac muscle (EC:2.7.11.18)
Short name:
MLCK2
Gene namesi
Name:MYLK2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101306.10
HGNCiHGNC:16243 MYLK2
MIMi606566 gene
neXtProtiNX_Q9H1R3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic (CMH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
See also OMIM:192600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01419787A → V in CMH. 1 PublicationCorresponds to variant dbSNP:rs121908107EnsemblClinVar.1
Natural variantiVAR_01419895A → E in CMH. 1 PublicationCorresponds to variant dbSNP:rs121908108EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi85366
GeneReviewsiMYLK2
MalaCardsiMYLK2
MIMi192600 phenotype
OpenTargetsiENSG00000101306
Orphaneti155 Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA31389

Chemistry databases

ChEMBLiCHEMBL2777
DrugBankiDB04825 Prenylamine
GuidetoPHARMACOLOGYi1553

Polymorphism and mutation databases

BioMutaiMYLK2
DMDMi24211884

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00000864082 – 596Myosin light chain kinase 2, skeletal/cardiac muscleAdd BLAST595

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineBy similarity1
Modified residuei143PhosphoserineBy similarity1
Modified residuei149PhosphoserineBy similarity1
Modified residuei151PhosphoserineBy similarity1
Modified residuei445PhosphothreonineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9H1R3
MaxQBiQ9H1R3
PaxDbiQ9H1R3
PeptideAtlasiQ9H1R3
PRIDEiQ9H1R3
ProteomicsDBi80445

PTM databases

iPTMnetiQ9H1R3
PhosphoSitePlusiQ9H1R3

Expressioni

Tissue specificityi

Heart and skeletal muscles. Increased expression in the apical tissue compared to the interventricular septal tissue.

Gene expression databases

BgeeiENSG00000101306
CleanExiHS_MYLK2
GenevisibleiQ9H1R3 HS

Organism-specific databases

HPAiHPA059704
HPA059890

Interactioni

Subunit structurei

May interact with centrin.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
MEF2CQ064132EBI-356910,EBI-2684075

GO - Molecular functioni

Protein-protein interaction databases

BioGridi124494, 18 interactors
IntActiQ9H1R3, 8 interactors
MINTiQ9H1R3
STRINGi9606.ENSP00000365152

Chemistry databases

BindingDBiQ9H1R3

Structurei

Secondary structure

1596
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi567 – 586Combined sources20

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LV6Other-B566-591[»]
3KF9X-ray2.60B/D566-587[»]
ProteinModelPortaliQ9H1R3
SMRiQ9H1R3
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H1R3

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini285 – 540Protein kinasePROSITE-ProRule annotationAdd BLAST256

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni574 – 586Calmodulin-bindingBy similarityAdd BLAST13

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi261 – 268Poly-Pro8

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0032 Eukaryota
ENOG410XRMJ LUCA
GeneTreeiENSGT00760000118877
HOGENOMiHOG000233016
HOVERGENiHBG080416
InParanoidiQ9H1R3
KOiK00907
OMAiYLMKRRW
OrthoDBiEOG091G005W
PhylomeDBiQ9H1R3
TreeFamiTF314166

Family and domain databases

InterProiView protein in InterPro
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR008271 Ser/Thr_kinase_AS
PfamiView protein in Pfam
PF00069 Pkinase, 1 hit
SMARTiView protein in SMART
SM00220 S_TKc, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9H1R3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATENGAVEL GIQNPSTDKA PKGPTGERPL AAGKDPGPPD PKKAPDPPTL
60 70 80 90 100
KKDAKAPASE KGDGTLAQPS TSSQGPKGEG DRGGGPAEGS AGPPAALPQQ
110 120 130 140 150
TATPETSVKK PKAEQGASGS QDPGKPRVGK KAAEGQAAAR RGSPAFLHSP
160 170 180 190 200
SCPAIISSSE KLLAKKPPSE ASELTFEGVP MTHSPTDPRP AKAEEGKNIL
210 220 230 240 250
AESQKEVGEK TPGQAGQAKM QGDTSRGIEF QAVPSEKSEV GQALCLTARE
260 270 280 290 300
EDCFQILDDC PPPPAPFPHR MVELRTGNVS SEFSMNSKEA LGGGKFGAVC
310 320 330 340 350
TCMEKATGLK LAAKVIKKQT PKDKEMVLLE IEVMNQLNHR NLIQLYAAIE
360 370 380 390 400
TPHEIVLFME YIEGGELFER IVDEDYHLTE VDTMVFVRQI CDGILFMHKM
410 420 430 440 450
RVLHLDLKPE NILCVNTTGH LVKIIDFGLA RRYNPNEKLK VNFGTPEFLS
460 470 480 490 500
PEVVNYDQIS DKTDMWSMGV ITYMLLSGLS PFLGDDDTET LNNVLSGNWY
510 520 530 540 550
FDEETFEAVS DEAKDFVSNL IVKDQRARMN AAQCLAHPWL NNLAEKAKRC
560 570 580 590
NRRLKSQILL KKYLMKRRWK KNFIAVSAAN RFKKISSSGA LMALGV
Length:596
Mass (Da):64,685
Last modified:January 23, 2007 - v3
Checksum:i671A2B5DE9453ADE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti355 – 361IVLFMEY → GGVCAHS in AAH07753 (PubMed:15489334).Curated7

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01419787A → V in CMH. 1 PublicationCorresponds to variant dbSNP:rs121908107EnsemblClinVar.1
Natural variantiVAR_01419895A → E in CMH. 1 PublicationCorresponds to variant dbSNP:rs121908108EnsemblClinVar.1
Natural variantiVAR_040860117A → V in a lung neuroendocrine carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_040861142G → V1 PublicationCorresponds to variant dbSNP:rs56385445Ensembl.1
Natural variantiVAR_040862144P → A1 PublicationCorresponds to variant dbSNP:rs34396614EnsemblClinVar.1
Natural variantiVAR_040863324K → N1 PublicationCorresponds to variant dbSNP:rs34146416Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF325549 mRNA Translation: AAK15494.1
AJ272502 mRNA Translation: CAC81354.1
AL160175 Genomic DNA No translation available.
BC007753 mRNA Translation: AAH07753.1
BC069627 mRNA Translation: AAH69627.1
BC092413 mRNA Translation: AAH92413.1
BC127622 mRNA Translation: AAI27623.1
CCDSiCCDS13191.1
RefSeqiNP_149109.1, NM_033118.3
UniGeneiHs.86092

Genome annotation databases

EnsembliENST00000375985; ENSP00000365152; ENSG00000101306
ENST00000375994; ENSP00000365162; ENSG00000101306
GeneIDi85366
KEGGihsa:85366
UCSCiuc002wwq.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMYLK2_HUMAN
AccessioniPrimary (citable) accession number: Q9H1R3
Secondary accession number(s): Q569L1, Q96I84
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: January 23, 2007
Last modified: June 20, 2018
This is version 173 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

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