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Q9H1R3

- MYLK2_HUMAN

UniProt

Q9H1R3 - MYLK2_HUMAN

Protein

Myosin light chain kinase 2, skeletal/cardiac muscle

Gene

MYLK2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei314 – 3141ATPPROSITE-ProRule annotation
    Active sitei406 – 4061Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi291 – 2999ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. calmodulin binding Source: BHF-UCL
    3. calmodulin-dependent protein kinase activity Source: BHF-UCL
    4. myosin light chain kinase activity Source: BHF-UCL
    5. protein binding Source: UniProtKB

    GO - Biological processi

    1. cardiac muscle contraction Source: BHF-UCL
    2. cardiac muscle tissue morphogenesis Source: BHF-UCL
    3. neuromuscular synaptic transmission Source: Ensembl
    4. peptidyl-threonine phosphorylation Source: UniProtKB
    5. positive regulation of gene expression Source: UniProtKB
    6. protein autophosphorylation Source: UniProtKB
    7. regulation of muscle filament sliding Source: BHF-UCL
    8. skeletal muscle cell differentiation Source: UniProtKB
    9. skeletal muscle satellite cell differentiation Source: Ensembl
    10. striated muscle contraction Source: BHF-UCL

    Keywords - Molecular functioni

    Kinase, Serine/threonine-protein kinase, Transferase

    Keywords - Ligandi

    ATP-binding, Calmodulin-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDAi2.7.11.18. 2681.
    SignaLinkiQ9H1R3.

    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
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:16243. MYLK2.

    Subcellular locationi

    Cytoplasm
    Note: Colocalizes with phosphorylated myosin light chain (RLCP) at filaments of the myofibrils.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB
    3. sarcomere Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti87 – 871A → V in CMH. 1 Publication
    Corresponds to variant rs121908107 [ dbSNP | Ensembl ].
    VAR_014197
    Natural varianti95 – 951A → E in CMH. 1 Publication
    Corresponds to variant rs121908108 [ dbSNP | Ensembl ].
    VAR_014198

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi192600. phenotype.
    Orphaneti155. Familial isolated hypertrophic cardiomyopathy.
    PharmGKBiPA31389.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 596595Myosin light chain kinase 2, skeletal/cardiac musclePRO_0000086408Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    PaxDbiQ9H1R3.
    PRIDEiQ9H1R3.

    PTM databases

    PhosphoSiteiQ9H1R3.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiQ9H1R3.
    CleanExiHS_MYLK2.
    GenevestigatoriQ9H1R3.

    Organism-specific databases

    HPAiHPA059704.
    HPA059890.

    Interactioni

    Subunit structurei

    May interact with centrin.1 Publication

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi124494. 12 interactions.
    IntActiQ9H1R3. 8 interactions.
    MINTiMINT-1158812.
    STRINGi9606.ENSP00000365152.

    Structurei

    Secondary structure

    1
    596
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi567 – 58620

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2LV6Other-B566-591[»]
    3KF9X-ray2.60B/D566-587[»]
    ProteinModelPortaliQ9H1R3.
    SMRiQ9H1R3. Positions 261-591.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9H1R3.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini285 – 540256Protein kinasePROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni574 – 58613Calmodulin-bindingBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi261 – 2688Poly-Pro

    Sequence similaritiesi

    Contains 1 protein kinase domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG0515.
    HOGENOMiHOG000233016.
    HOVERGENiHBG080416.
    InParanoidiQ9H1R3.
    KOiK00907.
    OMAiEGVPMTH.
    OrthoDBiEOG73FQMV.
    PhylomeDBiQ9H1R3.
    TreeFamiTF314166.

    Family and domain databases

    InterProiIPR020636. Ca/CaM-dep_Ca-dep_prot_Kinase.
    IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR002290. Ser/Thr_dual-sp_kinase_dom.
    IPR008271. Ser/Thr_kinase_AS.
    [Graphical view]
    PANTHERiPTHR24347. PTHR24347. 1 hit.
    PfamiPF00069. Pkinase. 1 hit.
    [Graphical view]
    SMARTiSM00220. S_TKc. 1 hit.
    [Graphical view]
    SUPFAMiSSF56112. SSF56112. 1 hit.
    PROSITEiPS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q9H1R3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MATENGAVEL GIQNPSTDKA PKGPTGERPL AAGKDPGPPD PKKAPDPPTL    50
    KKDAKAPASE KGDGTLAQPS TSSQGPKGEG DRGGGPAEGS AGPPAALPQQ 100
    TATPETSVKK PKAEQGASGS QDPGKPRVGK KAAEGQAAAR RGSPAFLHSP 150
    SCPAIISSSE KLLAKKPPSE ASELTFEGVP MTHSPTDPRP AKAEEGKNIL 200
    AESQKEVGEK TPGQAGQAKM QGDTSRGIEF QAVPSEKSEV GQALCLTARE 250
    EDCFQILDDC PPPPAPFPHR MVELRTGNVS SEFSMNSKEA LGGGKFGAVC 300
    TCMEKATGLK LAAKVIKKQT PKDKEMVLLE IEVMNQLNHR NLIQLYAAIE 350
    TPHEIVLFME YIEGGELFER IVDEDYHLTE VDTMVFVRQI CDGILFMHKM 400
    RVLHLDLKPE NILCVNTTGH LVKIIDFGLA RRYNPNEKLK VNFGTPEFLS 450
    PEVVNYDQIS DKTDMWSMGV ITYMLLSGLS PFLGDDDTET LNNVLSGNWY 500
    FDEETFEAVS DEAKDFVSNL IVKDQRARMN AAQCLAHPWL NNLAEKAKRC 550
    NRRLKSQILL KKYLMKRRWK KNFIAVSAAN RFKKISSSGA LMALGV 596
    Length:596
    Mass (Da):64,685
    Last modified:January 23, 2007 - v3
    Checksum:i671A2B5DE9453ADE
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti355 – 3617IVLFMEY → GGVCAHS in AAH07753. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti87 – 871A → V in CMH. 1 Publication
    Corresponds to variant rs121908107 [ dbSNP | Ensembl ].
    VAR_014197
    Natural varianti95 – 951A → E in CMH. 1 Publication
    Corresponds to variant rs121908108 [ dbSNP | Ensembl ].
    VAR_014198
    Natural varianti117 – 1171A → V in a lung neuroendocrine carcinoma sample; somatic mutation. 1 Publication
    VAR_040860
    Natural varianti142 – 1421G → V.1 Publication
    Corresponds to variant rs56385445 [ dbSNP | Ensembl ].
    VAR_040861
    Natural varianti144 – 1441P → A.1 Publication
    Corresponds to variant rs34396614 [ dbSNP | Ensembl ].
    VAR_040862
    Natural varianti324 – 3241K → N.1 Publication
    Corresponds to variant rs34146416 [ dbSNP | Ensembl ].
    VAR_040863

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF325549 mRNA. Translation: AAK15494.1.
    AJ272502 mRNA. Translation: CAC81354.1.
    AL160175 Genomic DNA. Translation: CAC10006.1.
    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.2. human.

    Polymorphism databases

    DMDMi24211884.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF325549 mRNA. Translation: AAK15494.1 .
    AJ272502 mRNA. Translation: CAC81354.1 .
    AL160175 Genomic DNA. Translation: CAC10006.1 .
    BC007753 mRNA. Translation: AAH07753.1 .
    BC069627 mRNA. Translation: AAH69627.1 .
    BC092413 mRNA. Translation: AAH92413.1 .
    BC127622 mRNA. Translation: AAI27623.1 .
    CCDSi CCDS13191.1.
    RefSeqi NP_149109.1. NM_033118.3.
    UniGenei Hs.86092.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2LV6 Other - B 566-591 [» ]
    3KF9 X-ray 2.60 B/D 566-587 [» ]
    ProteinModelPortali Q9H1R3.
    SMRi Q9H1R3. Positions 261-591.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124494. 12 interactions.
    IntActi Q9H1R3. 8 interactions.
    MINTi MINT-1158812.
    STRINGi 9606.ENSP00000365152.

    Chemistry

    BindingDBi Q9H1R3.
    ChEMBLi CHEMBL2777.
    GuidetoPHARMACOLOGYi 1553.

    PTM databases

    PhosphoSitei Q9H1R3.

    Polymorphism databases

    DMDMi 24211884.

    Proteomic databases

    PaxDbi Q9H1R3.
    PRIDEi Q9H1R3.

    Protocols and materials databases

    DNASUi 85366.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000375985 ; ENSP00000365152 ; ENSG00000101306 .
    ENST00000375994 ; ENSP00000365162 ; ENSG00000101306 .
    GeneIDi 85366.
    KEGGi hsa:85366.
    UCSCi uc002wwq.2. human.

    Organism-specific databases

    CTDi 85366.
    GeneCardsi GC20P030407.
    GeneReviewsi MYLK2.
    HGNCi HGNC:16243. MYLK2.
    HPAi HPA059704.
    HPA059890.
    MIMi 192600. phenotype.
    606566. gene.
    neXtProti NX_Q9H1R3.
    Orphaneti 155. Familial isolated hypertrophic cardiomyopathy.
    PharmGKBi PA31389.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0515.
    HOGENOMi HOG000233016.
    HOVERGENi HBG080416.
    InParanoidi Q9H1R3.
    KOi K00907.
    OMAi EGVPMTH.
    OrthoDBi EOG73FQMV.
    PhylomeDBi Q9H1R3.
    TreeFami TF314166.

    Enzyme and pathway databases

    BRENDAi 2.7.11.18. 2681.
    SignaLinki Q9H1R3.

    Miscellaneous databases

    EvolutionaryTracei Q9H1R3.
    GeneWikii MYLK2.
    GenomeRNAii 85366.
    NextBioi 75899.
    PROi Q9H1R3.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9H1R3.
    CleanExi HS_MYLK2.
    Genevestigatori Q9H1R3.

    Family and domain databases

    InterProi IPR020636. Ca/CaM-dep_Ca-dep_prot_Kinase.
    IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR002290. Ser/Thr_dual-sp_kinase_dom.
    IPR008271. Ser/Thr_kinase_AS.
    [Graphical view ]
    PANTHERi PTHR24347. PTHR24347. 1 hit.
    Pfami PF00069. Pkinase. 1 hit.
    [Graphical view ]
    SMARTi SM00220. S_TKc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56112. SSF56112. 1 hit.
    PROSITEi PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation."
      Davis J.S., Hassanzadeh S., Winitsky S., Lin H., Satorius C., Vemuri R., Aletras A.H., Wen H., Epstein N.D.
      Cell 107:631-641(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, VARIANTS CMH VAL-87 AND GLU-95.
      Tissue: Skeletal muscle.
    2. "Full-length sequencing of 100 cDNA clones from human adult skeletal muscle."
      Stanchi F., Lanfranchi G.
      Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Skeletal muscle.
    3. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Muscle.
    5. "Structural features of the complexes formed by Scherffelia dubia centrin."
      Radu L., Miron S., Durand D., Assairi L., Blouquit Y., Charbonnier J.B.
      Submitted (JAN-2011) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 566-587 IN COMPLEX WITH CENTRIN, SUBUNIT.
    6. "Patterns of somatic mutation in human cancer genomes."
      Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-117; VAL-142; ALA-144 AND ASN-324.

    Entry informationi

    Entry nameiMYLK2_HUMAN
    AccessioniPrimary (citable) accession number: Q9H1R3
    Secondary accession number(s): Q569L1, Q96I84
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 19, 2002
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 141 of the entry and version 3 of the sequence. [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

    Documents

    1. Human chromosome 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3