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P10916

- MLRV_HUMAN

UniProt

P10916 - MLRV_HUMAN

Protein

Myosin regulatory light chain 2, ventricular/cardiac muscle isoform

Gene

MYL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi37 – 4812Add
    BLAST

    GO - Molecular functioni

    1. actin monomer binding Source: BHF-UCL
    2. calcium ion binding Source: MGI
    3. myosin heavy chain binding Source: BHF-UCL
    4. protein binding Source: UniProtKB
    5. structural constituent of muscle Source: BHF-UCL

    GO - Biological processi

    1. cardiac muscle contraction Source: Ensembl
    2. cardiac myofibril assembly Source: BHF-UCL
    3. heart contraction Source: BHF-UCL
    4. muscle cell fate specification Source: Ensembl
    5. muscle fiber development Source: Ensembl
    6. muscle filament sliding Source: Reactome
    7. negative regulation of cell growth Source: BHF-UCL
    8. post-embryonic development Source: Ensembl
    9. regulation of striated muscle contraction Source: ProtInc
    10. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL

    Keywords - Molecular functioni

    Motor protein, Muscle protein, Myosin

    Keywords - Ligandi

    Calcium, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_16969. Striated Muscle Contraction.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
    Short name:
    MLC-2
    Short name:
    MLC-2v
    Gene namesi
    Name:MYL2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:7583. MYL2.

    Subcellular locationi

    CytoplasmmyofibrilsarcomereA band By similarity

    GO - Cellular componenti

    1. A band Source: UniProtKB-SubCell
    2. cytoskeleton Source: BHF-UCL
    3. cytosol Source: Reactome
    4. myofibril Source: BHF-UCL
    5. myosin complex Source: BHF-UCL
    6. sarcomere Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758]: 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. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131A → T in CMH10; with mid-left ventricular chamber thickening. 1 Publication
    Corresponds to variant rs104894363 [ dbSNP | Ensembl ].
    VAR_004601
    Natural varianti18 – 181F → L in CMH10. 1 Publication
    Corresponds to variant rs28932774 [ dbSNP | Ensembl ].
    VAR_004602
    Natural varianti22 – 221E → K in CMH10; some patients present with mid-left ventricular chamber thickening. 2 Publications
    VAR_004603
    Natural varianti58 – 581R → Q in CMH10. 3 Publications
    Corresponds to variant rs28933099 [ dbSNP | Ensembl ].
    VAR_004604
    Natural varianti95 – 951P → A in CMH10; with mid-left ventricular chamber thickening. 1 Publication
    VAR_004605
    Natural varianti166 – 1661D → V in CMH10. 1 Publication
    VAR_019844

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi608758. phenotype.
    Orphaneti2020. Congenital fiber-type disproportion myopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    PharmGKBiPA31380.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 166165Myosin regulatory light chain 2, ventricular/cardiac muscle isoformPRO_0000198727Add
    BLAST

    Amino acid modifications

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

    Post-translational modificationi

    N-terminus is methylated by METTL11A/NTM1.By similarity
    Phosphorylated by MYLK3.By similarity

    Keywords - PTMi

    Methylation, Phosphoprotein

    Proteomic databases

    PaxDbiP10916.
    PRIDEiP10916.

    2D gel databases

    UCD-2DPAGEP10916.

    PTM databases

    PhosphoSiteiP10916.

    Expressioni

    Gene expression databases

    ArrayExpressiP10916.
    BgeeiP10916.
    CleanExiHS_MYL2.
    GenevestigatoriP10916.

    Organism-specific databases

    HPAiHPA019763.
    HPA039262.

    Interactioni

    Subunit structurei

    Myosin is a hexamer of 2 heavy chains and 4 light chains. Interacts with MYOC.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    USP6P35125-35EBI-725770,EBI-954590

    Protein-protein interaction databases

    BioGridi110717. 5 interactions.
    IntActiP10916. 4 interactions.
    MINTiMINT-1430124.
    STRINGi9606.ENSP00000228841.

    Structurei

    3D structure databases

    ProteinModelPortaliP10916.
    SMRiP10916. Positions 16-165.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini24 – 5936EF-hand 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini94 – 12936EF-hand 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini130 – 16536EF-hand 3PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 3 EF-hand domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG5126.
    HOGENOMiHOG000233018.
    HOVERGENiHBG012180.
    InParanoidiP10916.
    KOiK10351.
    OMAiHFEASAD.
    OrthoDBiEOG7992RX.
    PhylomeDBiP10916.
    TreeFamiTF314218.

    Family and domain databases

    Gene3Di1.10.238.10. 2 hits.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR002048. EF_hand_dom.
    [Graphical view]
    PfamiPF00036. EF-hand_1. 1 hit.
    [Graphical view]
    SMARTiSM00054. EFh. 3 hits.
    [Graphical view]
    PROSITEiPS00018. EF_HAND_1. 1 hit.
    PS50222. EF_HAND_2. 3 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    P10916-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAPKKAKKRA GGANSNVFSM FEQTQIQEFK EAFTIMDQNR DGFIDKNDLR    50
    DTFAALGRVN VKNEEIDEMI KEAPGPINFT VFLTMFGEKL KGADPEETIL 100
    NAFKVFDPEG KGVLKADYVR EMLTTQAERF SKEEVDQMFA AFPPDVTGNL 150
    DYKNLVHIIT HGEEKD 166
    Length:166
    Mass (Da):18,789
    Last modified:January 23, 2007 - v3
    Checksum:iEA0BEF886AA3FAF5
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131A → T in CMH10; with mid-left ventricular chamber thickening. 1 Publication
    Corresponds to variant rs104894363 [ dbSNP | Ensembl ].
    VAR_004601
    Natural varianti18 – 181F → L in CMH10. 1 Publication
    Corresponds to variant rs28932774 [ dbSNP | Ensembl ].
    VAR_004602
    Natural varianti22 – 221E → K in CMH10; some patients present with mid-left ventricular chamber thickening. 2 Publications
    VAR_004603
    Natural varianti57 – 571G → R.
    Corresponds to variant rs2428140 [ dbSNP | Ensembl ].
    VAR_029449
    Natural varianti58 – 581R → Q in CMH10. 3 Publications
    Corresponds to variant rs28933099 [ dbSNP | Ensembl ].
    VAR_004604
    Natural varianti95 – 951P → A in CMH10; with mid-left ventricular chamber thickening. 1 Publication
    VAR_004605
    Natural varianti166 – 1661D → V in CMH10. 1 Publication
    VAR_019844

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X14332 mRNA. Translation: CAA32510.1.
    M22815 mRNA. Translation: AAA91832.1.
    AF020768 mRNA. Translation: AAB91993.1.
    S69022 mRNA. Translation: AAB29658.2.
    BC015821 mRNA. Translation: AAH15821.1.
    BC031006 mRNA. Translation: AAH31006.1.
    BC031008 mRNA. Translation: AAH31008.1.
    CCDSiCCDS31901.1.
    RefSeqiNP_000423.2. NM_000432.3.
    UniGeneiHs.75535.

    Genome annotation databases

    EnsembliENST00000228841; ENSP00000228841; ENSG00000111245.
    GeneIDi4633.
    KEGGihsa:4633.
    UCSCiuc001trx.4. human.

    Polymorphism databases

    DMDMi6166556.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X14332 mRNA. Translation: CAA32510.1 .
    M22815 mRNA. Translation: AAA91832.1 .
    AF020768 mRNA. Translation: AAB91993.1 .
    S69022 mRNA. Translation: AAB29658.2 .
    BC015821 mRNA. Translation: AAH15821.1 .
    BC031006 mRNA. Translation: AAH31006.1 .
    BC031008 mRNA. Translation: AAH31008.1 .
    CCDSi CCDS31901.1.
    RefSeqi NP_000423.2. NM_000432.3.
    UniGenei Hs.75535.

    3D structure databases

    ProteinModelPortali P10916.
    SMRi P10916. Positions 16-165.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110717. 5 interactions.
    IntActi P10916. 4 interactions.
    MINTi MINT-1430124.
    STRINGi 9606.ENSP00000228841.

    PTM databases

    PhosphoSitei P10916.

    Polymorphism databases

    DMDMi 6166556.

    2D gel databases

    UCD-2DPAGE P10916.

    Proteomic databases

    PaxDbi P10916.
    PRIDEi P10916.

    Protocols and materials databases

    DNASUi 4633.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000228841 ; ENSP00000228841 ; ENSG00000111245 .
    GeneIDi 4633.
    KEGGi hsa:4633.
    UCSCi uc001trx.4. human.

    Organism-specific databases

    CTDi 4633.
    GeneCardsi GC12M111348.
    GeneReviewsi MYL2.
    HGNCi HGNC:7583. MYL2.
    HPAi HPA019763.
    HPA039262.
    MIMi 160781. gene.
    608758. phenotype.
    neXtProti NX_P10916.
    Orphaneti 2020. Congenital fiber-type disproportion myopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    PharmGKBi PA31380.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5126.
    HOGENOMi HOG000233018.
    HOVERGENi HBG012180.
    InParanoidi P10916.
    KOi K10351.
    OMAi HFEASAD.
    OrthoDBi EOG7992RX.
    PhylomeDBi P10916.
    TreeFami TF314218.

    Enzyme and pathway databases

    Reactomei REACT_16969. Striated Muscle Contraction.

    Miscellaneous databases

    ChiTaRSi MYL2. human.
    GeneWikii MYL2.
    GenomeRNAii 4633.
    NextBioi 17836.
    PROi P10916.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P10916.
    Bgeei P10916.
    CleanExi HS_MYL2.
    Genevestigatori P10916.

    Family and domain databases

    Gene3Di 1.10.238.10. 2 hits.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR002048. EF_hand_dom.
    [Graphical view ]
    Pfami PF00036. EF-hand_1. 1 hit.
    [Graphical view ]
    SMARTi SM00054. EFh. 3 hits.
    [Graphical view ]
    PROSITEi PS00018. EF_HAND_1. 1 hit.
    PS50222. EF_HAND_2. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and nucleotide sequence of the cDNA encoding human ventricular myosin light chain 2."
      Libera L.D., Hoffmann E., Floroff M., Jackowski G.
      Nucleic Acids Res. 17:2360-2360(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Heart.
    2. Wu Q.L.
      Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Muscle.
    3. Margossian S.S., Umeda P.K., Sciaky D., Anderson P.A.W.
      Submitted (AUG-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    4. "Interaction of a conserved peptide domain in recombinant human ventricular myosin light chain-2 with myosin heavy chain."
      Wadgaonkar R., Shafiq S., Rajmanickam C., Siddiqui M.A.
      Cell. Mol. Biol. Res. 39:13-26(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    5. "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: Prostate and Skeletal muscle.
    6. "The major protein expression profile and two-dimensional protein database of human heart."
      Kovalyov L.I., Shishkin S.S., Efimochkin A.S., Kovalyova M.A., Ershova E.S., Egorov T.A., Musalyamov A.K.
      Electrophoresis 16:1160-1169(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 138-144.
      Tissue: Heart.
    7. "Protein interactions with myocilin."
      Wentz-Hunter K., Ueda J., Yue B.Y.
      Invest. Ophthalmol. Vis. Sci. 43:176-182(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MYOC.
    8. "Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle."
      Poetter K., Jiang H., Hassanzadeh S., Master S.R., Chang A., Dalakas M.C., Rayment I., Sellers J.R., Fananapazir L., Epstein N.D.
      Nat. Genet. 13:63-69(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMH10 THR-13; LYS-22 AND ALA-95.
    9. "Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy."
      Flavigny J., Richard P., Isnard R., Carrier L., Charron P., Bonne G., Forissier J.F., Desnos M., Dubourg O., Komajda M., Schwartz K., Hainque B.
      J. Mol. Med. 76:208-214(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMH10 LEU-18 AND GLN-58.
    10. "Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy."
      Kabaeva Z.T., Perrot A., Wolter B., Dietz R., Cardim N., Correia J.M., Schulte H.D., Aldashev A.A., Mirrakhimov M.M., Osterziel K.J.
      Eur. J. Hum. Genet. 10:741-748(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMH10 LYS-22 AND GLN-58.
    11. "Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."
      Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.
      Circulation 107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMH10 VAL-166.
    12. "Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden."
      Moerner S., Richard P., Kazzam E., Hellman U., Hainque B., Schwartz K., Waldenstroem A.
      J. Mol. Cell. Cardiol. 35:841-849(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMH10 GLN-58.

    Entry informationi

    Entry nameiMLRV_HUMAN
    AccessioniPrimary (citable) accession number: P10916
    Secondary accession number(s): Q16123
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1989
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 154 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

    Miscellaneous

    This chain binds calcium.

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3