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Q9UKX3

- MYH13_HUMAN

UniProt

Q9UKX3 - MYH13_HUMAN

Protein

Myosin-13

Gene

MYH13

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 2 (08 Feb 2011)
      Previous versions | rss
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    Functioni

    Fast twitching myosin mediating the high-velocity and low-tension contractions of specific striated muscles.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi179 – 1868ATPSequence Analysis

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. microfilament motor activity Source: UniProtKB

    GO - Biological processi

    1. cellular response to starvation Source: Ensembl
    2. metabolic process Source: GOC
    3. muscle contraction Source: UniProtKB

    Keywords - Molecular functioni

    Motor protein, Muscle protein, Myosin

    Keywords - Ligandi

    Actin-binding, ATP-binding, Calmodulin-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_147867. Translocation of GLUT4 to the plasma membrane.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myosin-13
    Alternative name(s):
    Myosin heavy chain 13
    Myosin heavy chain, skeletal muscle, extraocular
    Short name:
    MyHC-EO
    Myosin heavy chain, skeletal muscle, laryngeal
    Short name:
    MyHC-IIL
    Superfast myosin
    Gene namesi
    Name:MYH13
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:7571. MYH13.

    Subcellular locationi

    Cytoplasmmyofibril
    Note: Thick filaments of the myofibrils.

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. muscle myosin complex Source: UniProtKB
    3. myofibril Source: UniProtKB-SubCell
    4. myosin filament Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cytoplasm, Thick filament

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31368.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 19381938Myosin-13PRO_0000123430Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei130 – 1301N6,N6,N6-trimethyllysineSequence Analysis

    Keywords - PTMi

    Methylation

    Proteomic databases

    MaxQBiQ9UKX3.
    PaxDbiQ9UKX3.
    PeptideAtlasiQ9UKX3.
    PRIDEiQ9UKX3.

    PTM databases

    PhosphoSiteiQ9UKX3.

    Expressioni

    Tissue specificityi

    Specifically expressed in extraocular and laryngeal muscles.1 Publication

    Gene expression databases

    ArrayExpressiQ9UKX3.
    BgeeiQ9UKX3.
    CleanExiHS_MYH13.
    GenevestigatoriQ9UKX3.

    Organism-specific databases

    HPAiCAB000140.

    Interactioni

    Subunit structurei

    Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).

    Protein-protein interaction databases

    BioGridi114272. 2 interactions.
    IntActiQ9UKX3. 3 interactions.
    MINTiMINT-2821927.
    STRINGi9606.ENSP00000252172.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UKX3.
    SMRiQ9UKX3. Positions 4-965.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini86 – 782697Myosin motorAdd
    BLAST
    Domaini785 – 81430IQPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni659 – 68123Actin-bindingBy similarityAdd
    BLAST
    Regioni761 – 77515Actin-bindingBy similarityAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili843 – 19381096Sequence AnalysisAdd
    BLAST

    Domaini

    The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
    Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).
    The head-like domain S1 exhibits a much faster ATP-induced detachment from actin, and ADP affinity is more than 3-fold weaker than other myosins.

    Sequence similaritiesi

    Contains 1 IQ domain.PROSITE-ProRule annotation
    Contains 1 myosin motor domain.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiCOG5022.
    HOGENOMiHOG000173959.
    HOVERGENiHBG004704.
    InParanoidiQ9UKX3.
    KOiK10352.
    OMAiGCLEQEK.
    OrthoDBiEOG7RBZ7G.
    PhylomeDBiQ9UKX3.
    TreeFamiTF314375.

    Family and domain databases

    Gene3Di4.10.270.10. 1 hit.
    InterProiIPR000048. IQ_motif_EF-hand-BS.
    IPR027401. Myosin-like_IQ_dom.
    IPR001609. Myosin_head_motor_dom.
    IPR004009. Myosin_N.
    IPR002928. Myosin_tail.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF00063. Myosin_head. 1 hit.
    PF02736. Myosin_N. 1 hit.
    PF01576. Myosin_tail_1. 1 hit.
    [Graphical view]
    PRINTSiPR00193. MYOSINHEAVY.
    SMARTiSM00015. IQ. 1 hit.
    SM00242. MYSc. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    PROSITEiPS50096. IQ. 1 hit.
    PS51456. MYOSIN_MOTOR. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9UKX3-1 [UniParc]FASTAAdd to Basket

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    MSSDAEMAIF GEAAPYLRKP EKERIEAQNR PFDSKKACFV ADNKEMYVKG     50
    MIQTRENDKV IVKTLDDRML TLNNDQVFPM NPPKFDKIED MAMMTHLHEP 100
    AVLYNLKERY AAWMIYTYSG LFCVTVNPYK WLPVYKPEVV AAYRGKKRQE 150
    APPHIFSISD NAYQFMLTDR DNQSILITGE SGAGKTVNTK RVIQYFATIA 200
    VTGDKKKETQ PGKMQGTLED QIIQANPLLE AFGNAKTVRN DNSSRFGKFI 250
    RIHFGATGKL ASADIETYLL EKSRVTFQLS SERSYHIFYQ IMSNKKPELI 300
    DLLLISTNPF DFPFVSQGEV TVASIDDSEE LLATDNAIDI LGFSSEEKVG 350
    IYKLTGAVMH YGNMKFKQKQ REEQAEPDGT EVADKAGYLM GLNSAEMLKG 400
    LCCPRVKVGN EYVTKGQNVQ QVTNSVGALA KAVYEKMFLW MVTRINQQLD 450
    TKQPRQYFIG VLDIAGFEIF DFNSLEQLCI NFTNEKLQQF FNHHMFVLEQ 500
    EEYKKEGIEW EFIDFGMDLA ACIELIEKPM GIFSILEEEC MFPKATDTSF 550
    KNKLYDQHLG KSNNFQKPKP AKGKAEAHFS LVHYAGTVDY NIAGWLDKNK 600
    DPLNETVVGL YQKSSLKLLS FLFSNYAGAE TGDSGGSKKG GKKKGSSFQT 650
    VSAVFRENLN KLMTNLRSTH PHFVRCLIPN ETKTPGVMDH YLVMHQLRCN 700
    GVLEGIRICR KGFPSRILYA DFKQRYRILN ASAIPEGQFI DSKNASEKLL 750
    NSIDVDREQF RFGNTKVFFK AGLLGLLEEM RDEKLVTLMT STQAVCRGYL 800
    MRVEFKKMME RRDSIFCIQY NIRSFMNVKH WPWMNLFFKI KPLLKSAEAE 850
    KEMATMKEDF ERTKEELARS EARRKELEEK MVSLLQEKND LQLQVQSETE 900
    NLMDAEERCE GLIKSKILLE AKVKELTERL EEEEEMNSEL VAKKRNLEDK 950
    CSSLKRDIDD LELTLTKVEK EKHATENKVK NLSEEMTALE ENISKLTKEK 1000
    KSLQEAHQQT LDDLQVEEDK VNGLIKINAK LEQQTDDLEG SLEQEKKLRA 1050
    DLERAKRKLE GDLKMSQESI MDLENDKQQI EEKLKKKEFE LSQLQAKIDD 1100
    EQVHSLQFQK KIKELQARIE ELEEEIEAEH TLRAKIEKQR SDLARELEEI 1150
    SERLEEASGA TSAQIEMNKK REAEFQKMRR DLEEATLQHE ATAATLRKKQ 1200
    ADSVAELGEQ IDNLQRVKQK LEKEKSELKM EIDDMASNIE ALSKSKSNIE 1250
    RTCRTVEDQF SEIKAKDEQQ TQLIHDLNMQ KARLQTQNGE LSHRVEEKES 1300
    LISQLTKSKQ ALTQQLEELK RQMEEETKAK NAMAHALQSS RHDCDLLREQ 1350
    YEEEQEAKAE LQRALSKANS EVAQWRTKYE TDAIQRTEEL EEAKKKLAQR 1400
    LQEAEENTET ANSKCASLEK TKQRLQGEVE DLMRDLERSH TACATLDKKQ 1450
    RNFDKVLAEW KQKLDESQAE LEAAQKESRS LSTELFKMRN AYEEVVDQLE 1500
    TLRRENKNLQ EEISDLTEQI AETGKNLQEA EKTKKLVEQE KSDLQVALEE 1550
    VEGSLEHEES KILRVQLELS QVKSELDRKV IEKDEEIEQL KRNSQRAAEA 1600
    LQSVLDAEIR SRNDALRLKK KMEGDLNEME IQLGHSNRQM AETQKHLRTV 1650
    QGQLKDSQLH LDDALRSNED LKEQLAIVER RNGLLLEELE EMKVALEQTE 1700
    RTRRLSEQEL LDASDRVQLL HSQNTSLINT KKKLEADIAQ CQAEVENSIQ 1750
    ESRNAEEKAK KAITDAAMMA EELKKEQDTS AHLERMKKNL EQTVKDLQHR 1800
    LDEAEQLALK GGKKQIQKLE NRVRELENEL DVEQKRGAEA LKGAHKYERK 1850
    VKEMTYQAEE DHKNILRLQD LVDKLQAKVK SYKRQAEEAE EQANTQLSRC 1900
    RRVQHELEEA AERADIAESQ VNKLRAKSRD VGSQKMEE 1938
    Length:1,938
    Mass (Da):223,605
    Last modified:February 8, 2011 - v2
    Checksum:i66DD43A84F5D38DA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1097 – 10971K → R in AAD29948. (PubMed:10388558)Curated
    Sequence conflicti1376 – 13761R → K in AAD29948. (PubMed:10388558)Curated
    Sequence conflicti1407 – 14071N → K in AAD29948. (PubMed:10388558)Curated
    Sequence conflicti1645 – 16451K → R in AAD29948. (PubMed:10388558)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti701 – 7011G → R.
    Corresponds to variant rs2190729 [ dbSNP | Ensembl ].
    VAR_030231
    Natural varianti1071 – 10711M → V.
    Corresponds to variant rs2074877 [ dbSNP | Ensembl ].
    VAR_024543
    Natural varianti1076 – 10761D → E.1 Publication
    Corresponds to variant rs2074876 [ dbSNP | Ensembl ].
    VAR_030232
    Natural varianti1294 – 12941R → Q.
    Corresponds to variant rs17690195 [ dbSNP | Ensembl ].
    VAR_030233
    Natural varianti1862 – 18621H → R.1 Publication
    Corresponds to variant rs3744550 [ dbSNP | Ensembl ].
    VAR_030234

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF111782 mRNA. Translation: AAD29948.1.
    AC005291 Genomic DNA. No translation available.
    AH009397 Genomic DNA. Translation: AAF73155.1.
    AF075248 Genomic DNA. Translation: AAC83241.1.
    CCDSiCCDS45613.1.
    RefSeqiNP_003793.2. NM_003802.2.
    UniGeneiHs.711142.

    Genome annotation databases

    EnsembliENST00000252172; ENSP00000252172; ENSG00000006788.
    ENST00000418404; ENSP00000404570; ENSG00000006788.
    GeneIDi8735.
    KEGGihsa:8735.
    UCSCiuc002gmk.1. human.

    Polymorphism databases

    DMDMi322510049.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF111782 mRNA. Translation: AAD29948.1 .
    AC005291 Genomic DNA. No translation available.
    AH009397 Genomic DNA. Translation: AAF73155.1 .
    AF075248 Genomic DNA. Translation: AAC83241.1 .
    CCDSi CCDS45613.1.
    RefSeqi NP_003793.2. NM_003802.2.
    UniGenei Hs.711142.

    3D structure databases

    ProteinModelPortali Q9UKX3.
    SMRi Q9UKX3. Positions 4-965.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114272. 2 interactions.
    IntActi Q9UKX3. 3 interactions.
    MINTi MINT-2821927.
    STRINGi 9606.ENSP00000252172.

    PTM databases

    PhosphoSitei Q9UKX3.

    Polymorphism databases

    DMDMi 322510049.

    Proteomic databases

    MaxQBi Q9UKX3.
    PaxDbi Q9UKX3.
    PeptideAtlasi Q9UKX3.
    PRIDEi Q9UKX3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000252172 ; ENSP00000252172 ; ENSG00000006788 .
    ENST00000418404 ; ENSP00000404570 ; ENSG00000006788 .
    GeneIDi 8735.
    KEGGi hsa:8735.
    UCSCi uc002gmk.1. human.

    Organism-specific databases

    CTDi 8735.
    GeneCardsi GC17M010201.
    H-InvDB HIX0039060.
    HGNCi HGNC:7571. MYH13.
    HPAi CAB000140.
    MIMi 603487. gene.
    neXtProti NX_Q9UKX3.
    PharmGKBi PA31368.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5022.
    HOGENOMi HOG000173959.
    HOVERGENi HBG004704.
    InParanoidi Q9UKX3.
    KOi K10352.
    OMAi GCLEQEK.
    OrthoDBi EOG7RBZ7G.
    PhylomeDBi Q9UKX3.
    TreeFami TF314375.

    Enzyme and pathway databases

    Reactomei REACT_147867. Translocation of GLUT4 to the plasma membrane.

    Miscellaneous databases

    ChiTaRSi MYH13. human.
    GeneWikii MYH13.
    GenomeRNAii 8735.
    NextBioi 32765.
    PROi Q9UKX3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UKX3.
    Bgeei Q9UKX3.
    CleanExi HS_MYH13.
    Genevestigatori Q9UKX3.

    Family and domain databases

    Gene3Di 4.10.270.10. 1 hit.
    InterProi IPR000048. IQ_motif_EF-hand-BS.
    IPR027401. Myosin-like_IQ_dom.
    IPR001609. Myosin_head_motor_dom.
    IPR004009. Myosin_N.
    IPR002928. Myosin_tail.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF00063. Myosin_head. 1 hit.
    PF02736. Myosin_N. 1 hit.
    PF01576. Myosin_tail_1. 1 hit.
    [Graphical view ]
    PRINTSi PR00193. MYOSINHEAVY.
    SMARTi SM00015. IQ. 1 hit.
    SM00242. MYSc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    PROSITEi PS50096. IQ. 1 hit.
    PS51456. MYOSIN_MOTOR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity."
      Weiss A., Schiaffino S., Leinwand L.A.
      J. Mol. Biol. 290:61-75(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GLU-1076 AND ARG-1862.
      Tissue: Extraocular muscle.
    2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Human skeletal myosin heavy chain genes are tightly linked in the order embryonic-IIa-IId/x-ILb-perinatal-extraocular."
      Shrager J.B., Desjardins P.R., Burkman J.M., Konig S.K., Stewart S.K., Su L., Shah M.C., Bricklin E., Tewari M., Hoffman R., Rickels M.R., Jullian E.H., Rubinstein N.A., Stedman H.H.
      J. Muscle Res. Cell Motil. 21:345-355(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1656-1822.
    4. "The human extraocular muscle myosin heavy chain gene (MYH13) maps to the cluster of fast and developmental myosin genes on chromosome 17."
      Winters L.M., Briggs M.M., Schachat F.
      Genomics 54:188-189(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1917-1938.
      Tissue: Extraocular muscle.
    5. "Phylogenetic implications of the superfast myosin in extraocular muscles."
      Schachat F., Briggs M.M.
      J. Exp. Biol. 205:2189-2201(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    6. "The superfast human extraocular myosin is kinetically distinct from the fast skeletal IIa, IIb, and IId isoforms."
      Bloemink M.J., Deacon J.C., Resnicow D.I., Leinwand L.A., Geeves M.A.
      J. Biol. Chem. 288:27469-27479(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.

    Entry informationi

    Entry nameiMYH13_HUMAN
    AccessioniPrimary (citable) accession number: Q9UKX3
    Secondary accession number(s): O95252, Q9P0U8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: February 8, 2011
    Last modified: October 1, 2014
    This is version 127 of the entry and version 2 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, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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