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P08590

- MYL3_HUMAN

UniProt

P08590 - MYL3_HUMAN

Protein

Myosin light chain 3

Gene

MYL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 145 (01 Oct 2014)
      Sequence version 3 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Regulatory light chain of myosin. Does not bind calcium.

    GO - Molecular functioni

    1. actin monomer binding Source: BHF-UCL
    2. calcium ion binding Source: InterPro
    3. motor activity Source: Ensembl
    4. myosin II heavy chain binding Source: BHF-UCL
    5. structural constituent of muscle Source: ProtInc

    GO - Biological processi

    1. cardiac muscle contraction Source: BHF-UCL
    2. muscle filament sliding Source: Reactome
    3. positive regulation of ATPase activity Source: BHF-UCL
    4. regulation of striated muscle contraction Source: BHF-UCL
    5. regulation of the force of heart contraction Source: BHF-UCL
    6. skeletal muscle tissue development Source: Ensembl
    7. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL

    Keywords - Molecular functioni

    Motor protein, Muscle protein, Myosin

    Enzyme and pathway databases

    ReactomeiREACT_16969. Striated Muscle Contraction.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myosin light chain 3
    Alternative name(s):
    Cardiac myosin light chain 1
    Short name:
    CMLC1
    Myosin light chain 1, slow-twitch muscle B/ventricular isoform
    Short name:
    MLC1SB
    Ventricular/slow twitch myosin alkali light chain
    Gene namesi
    Name:MYL3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:7584. MYL3.

    Subcellular locationi

    GO - Cellular componenti

    1. A band Source: BHF-UCL
    2. cytosol Source: Reactome
    3. I band Source: BHF-UCL
    4. muscle myosin complex Source: ProtInc
    5. sarcomere Source: BHF-UCL

    Pathology & Biotechi

    Involvement in diseasei

    Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751]: 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti56 – 561E → G in CMH8. 1 Publication
    VAR_019842
    Natural varianti143 – 1431E → K in CMH8; autosomal recessive. 1 Publication
    VAR_019843
    Natural varianti149 – 1491M → V in CMH8; with mid-left ventricular chamber thickening. 1 Publication
    VAR_004599
    Natural varianti154 – 1541R → H in CMH8; with mid-left ventricular chamber thickening. 1 Publication
    VAR_004600

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi608751. phenotype.
    Orphaneti155. Familial isolated hypertrophic cardiomyopathy.
    PharmGKBiPA31381.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 195194Myosin light chain 3PRO_0000198696Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N,N,N-trimethylalanine1 Publication

    Post-translational modificationi

    The N-terminus is blocked.
    N-terminus is methylated by METTL11A/NTM1.By similarity

    Keywords - PTMi

    Methylation

    Proteomic databases

    MaxQBiP08590.
    PaxDbiP08590.
    PRIDEiP08590.

    2D gel databases

    UCD-2DPAGEP08590.

    PTM databases

    PhosphoSiteiP08590.

    Miscellaneous databases

    PMAP-CutDBP08590.

    Expressioni

    Gene expression databases

    ArrayExpressiP08590.
    BgeeiP08590.
    CleanExiHS_MYL3.
    GenevestigatoriP08590.

    Organism-specific databases

    HPAiCAB018662.
    HPA016564.

    Interactioni

    Subunit structurei

    Myosin is a hexamer of 2 heavy chains and 4 light chains.

    Protein-protein interaction databases

    BioGridi110718. 5 interactions.
    IntActiP08590. 4 interactions.
    STRINGi9606.ENSP00000292327.

    Structurei

    3D structure databases

    ProteinModelPortaliP08590.
    SMRiP08590. Positions 49-194.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini49 – 8638EF-hand 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini128 – 16336EF-hand 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini163 – 19533EF-hand 3PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 3 EF-hand domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG5126.
    HOGENOMiHOG000233018.
    HOVERGENiHBG012180.
    InParanoidiP08590.
    KOiK12749.
    OMAiGRPKQEE.
    OrthoDBiEOG7HQN9N.
    PhylomeDBiP08590.
    TreeFamiTF351553.

    Family and domain databases

    Gene3Di1.10.238.10. 2 hits.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    [Graphical view]
    PROSITEiPS50222. EF_HAND_2. 3 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    P08590-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAPKKPEPKK DDAKAAPKAA PAPAPPPEPE RPKEVEFDAS KIKIEFTPEQ    50
    IEEFKEAFML FDRTPKCEMK ITYGQCGDVL RALGQNPTQA EVLRVLGKPR 100
    QEELNTKMMD FETFLPMLQH ISKNKDTGTY EDFVEGLRVF DKEGNGTVMG 150
    AELRHVLATL GERLTEDEVE KLMAGQEDSN GCINYEAFVK HIMSS 195
    Length:195
    Mass (Da):21,932
    Last modified:January 23, 2007 - v3
    Checksum:i306CF328841729DD
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti171 – 1711K → R in AAF91089. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti56 – 561E → G in CMH8. 1 Publication
    VAR_019842
    Natural varianti143 – 1431E → K in CMH8; autosomal recessive. 1 Publication
    VAR_019843
    Natural varianti149 – 1491M → V in CMH8; with mid-left ventricular chamber thickening. 1 Publication
    VAR_004599
    Natural varianti154 – 1541R → H in CMH8; with mid-left ventricular chamber thickening. 1 Publication
    VAR_004600

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M24122 mRNA. Translation: AAA59895.1.
    X07373 mRNA. Translation: CAA30292.1.
    M24247
    , M24242, M24243, M24244, M24245, M24246 Genomic DNA. Translation: AAA59851.1.
    AF174483 mRNA. Translation: AAF91089.1.
    AK312044 mRNA. Translation: BAG34981.1.
    CH471055 Genomic DNA. Translation: EAW64791.1.
    BC009790 mRNA. Translation: AAH09790.1.
    CCDSiCCDS2746.1.
    PIRiB30881. MOHU3V.
    RefSeqiNP_000249.1. NM_000258.2.
    UniGeneiHs.517939.

    Genome annotation databases

    EnsembliENST00000292327; ENSP00000292327; ENSG00000160808.
    ENST00000395869; ENSP00000379210; ENSG00000160808.
    GeneIDi4634.
    KEGGihsa:4634.
    UCSCiuc003cql.1. human.

    Polymorphism databases

    DMDMi127149.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M24122 mRNA. Translation: AAA59895.1 .
    X07373 mRNA. Translation: CAA30292.1 .
    M24247
    , M24242 , M24243 , M24244 , M24245 , M24246 Genomic DNA. Translation: AAA59851.1 .
    AF174483 mRNA. Translation: AAF91089.1 .
    AK312044 mRNA. Translation: BAG34981.1 .
    CH471055 Genomic DNA. Translation: EAW64791.1 .
    BC009790 mRNA. Translation: AAH09790.1 .
    CCDSi CCDS2746.1.
    PIRi B30881. MOHU3V.
    RefSeqi NP_000249.1. NM_000258.2.
    UniGenei Hs.517939.

    3D structure databases

    ProteinModelPortali P08590.
    SMRi P08590. Positions 49-194.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110718. 5 interactions.
    IntActi P08590. 4 interactions.
    STRINGi 9606.ENSP00000292327.

    PTM databases

    PhosphoSitei P08590.

    Polymorphism databases

    DMDMi 127149.

    2D gel databases

    UCD-2DPAGE P08590.

    Proteomic databases

    MaxQBi P08590.
    PaxDbi P08590.
    PRIDEi P08590.

    Protocols and materials databases

    DNASUi 4634.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000292327 ; ENSP00000292327 ; ENSG00000160808 .
    ENST00000395869 ; ENSP00000379210 ; ENSG00000160808 .
    GeneIDi 4634.
    KEGGi hsa:4634.
    UCSCi uc003cql.1. human.

    Organism-specific databases

    CTDi 4634.
    GeneCardsi GC03M046899.
    GeneReviewsi MYL3.
    HGNCi HGNC:7584. MYL3.
    HPAi CAB018662.
    HPA016564.
    MIMi 160790. gene.
    608751. phenotype.
    neXtProti NX_P08590.
    Orphaneti 155. Familial isolated hypertrophic cardiomyopathy.
    PharmGKBi PA31381.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5126.
    HOGENOMi HOG000233018.
    HOVERGENi HBG012180.
    InParanoidi P08590.
    KOi K12749.
    OMAi GRPKQEE.
    OrthoDBi EOG7HQN9N.
    PhylomeDBi P08590.
    TreeFami TF351553.

    Enzyme and pathway databases

    Reactomei REACT_16969. Striated Muscle Contraction.

    Miscellaneous databases

    ChiTaRSi MYL3. human.
    GeneWikii MYL3.
    GenomeRNAii 4634.
    NextBioi 17840.
    PMAP-CutDB P08590.
    PROi P08590.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P08590.
    Bgeei P08590.
    CleanExi HS_MYL3.
    Genevestigatori P08590.

    Family and domain databases

    Gene3Di 1.10.238.10. 2 hits.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    [Graphical view ]
    PROSITEi PS50222. EF_HAND_2. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of human atrial and ventricular myosin alkali light chain cDNA clones."
      Kurabayashi M., Komuro I., Tsuchimochi H., Takaku F., Yazaki Y.
      J. Biol. Chem. 263:13930-13936(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1."
      Hoffmann E., Shi Q.W., Floroff M., Mickle D.A.G., Wu T.-W., Olley P.M., Jackowski G.
      Nucleic Acids Res. 16:2353-2353(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. Jackowski G.
      Submitted (MAY-1988) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    4. "Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location."
      Fodor W.L., Darras B., Seharaseyon J., Falkenthal S., Francke U., Vanin E.F.
      J. Biol. Chem. 264:2143-2149(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "The sequence of human cardiac myosin light chain I (CMLC-1) from a Chinese patient and the preparation of monoclonal antibody to CHCMLC1."
      Huang R., Peng B., Zhou G., Gong Z.
      Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Skeletal muscle.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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: Skeletal muscle.
    9. "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 20-27; 34-40; 95-100; 124-129; 139-142 AND 155-171.
      Tissue: Heart.
    10. "The widespread distribution of alpha-N-trimethylalanine as the N-terminal amino acid of light chains from vertebrate striated muscle myosins."
      Henry G.D., Trayer I.P., Brewer S., Levine B.A.
      Eur. J. Biochem. 148:75-82(1985) [PubMed] [Europe PMC] [Abstract]
      Cited for: METHYLATION AT ALA-2.
    11. "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 CMH8 VAL-149 AND HIS-154.
    12. "Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology."
      Olson T.M., Karst M.L., Whitby F.G., Driscoll D.J.
      Circulation 105:2337-2340(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMH8 LYS-143.
    13. "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 CMH8 GLY-56.

    Entry informationi

    Entry nameiMYL3_HUMAN
    AccessioniPrimary (citable) accession number: P08590
    Secondary accession number(s): B2R534, Q9NRS8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1988
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 145 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

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: 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