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Q9H1R3

- MYLK2_HUMAN

UniProt

Q9H1R3 - MYLK2_HUMAN

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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

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 – 3141ATP By similarity
Active sitei406 – 4061Proton acceptor By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi291 – 2999ATP By similarity

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. satellite cell differentiation Source: Ensembl
  9. skeletal muscle cell differentiation Source: UniProtKB
  10. striated muscle contraction Source: BHF-UCL
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 11Removed By similarity
Chaini2 – 596595Myosin light chain kinase 2, skeletal/cardiac muscle
PRO_0000086408Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine By 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

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.

Miscellaneous databases

EvolutionaryTraceiQ9H1R3.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini285 – 540256Protein kinase
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni574 – 58613Calmodulin-binding By similarity
Add
BLAST

Compositional bias

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

Sequence similaritiesi

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti355 – 3617IVLFMEY → GGVCAHS in AAH07753. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 140 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

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