位置:首页 > 蛋白库 > MYL1_DANRE
MYL1_DANRE
ID   MYL1_DANRE              Reviewed;         190 AA.
AC   Q6P0G6;
DT   16-OCT-2019, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   03-AUG-2022, entry version 134.
DE   RecName: Full=Myosin, light chain 1, alkali; skeletal, fast {ECO:0000312|ZFIN:ZDB-GENE-030131-8109};
GN   Name=myl1 {ECO:0000250|UniProtKB:P05976};
GN   Synonyms=zgc:77231 {ECO:0000312|ZFIN:ZDB-GENE-030131-8109};
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Danionidae; Danioninae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=Tuebingen;
RX   PubMed=23594743; DOI=10.1038/nature12111;
RA   Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA   Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA   Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA   White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA   Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA   Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA   Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA   Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA   Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA   Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA   Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA   Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA   Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA   Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA   Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA   McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA   Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA   Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA   Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA   Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA   Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA   Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA   Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA   Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA   Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA   Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA   Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA   Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA   de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA   Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT   "The zebrafish reference genome sequence and its relationship to the human
RT   genome.";
RL   Nature 496:498-503(2013).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Embryo;
RG   NIH - Zebrafish Gene Collection (ZGC) project;
RL   Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   TISSUE SPECIFICITY.
RX   PubMed=21674687; DOI=10.1002/dvdy.22677;
RA   Burguiere A.C., Nord H., von Hofsten J.;
RT   "Alkali-like myosin light chain-1 (myl1) is an early marker for
RT   differentiating fast muscle cells in zebrafish.";
RL   Dev. Dyn. 240:1856-1863(2011).
RN   [4]
RP   FUNCTION, AND DISRUPTION PHENOTYPE.
RX   PubMed=30215711; DOI=10.1093/hmg/ddy320;
RG   UK10K Consortium;
RA   Ravenscroft G., Zaharieva I.T., Bortolotti C.A., Lambrughi M.,
RA   Pignataro M., Borsari M., Sewry C.A., Phadke R., Haliloglu G., Ong R.,
RA   Goullee H., Whyte T., Manzur A., Talim B., Kaya U., Osborn D.P.S.,
RA   Forrest A.R.R., Laing N.G., Muntoni F.;
RT   "Bi-allelic mutations in MYL1 cause a severe congenital myopathy.";
RL   Hum. Mol. Genet. 27:4263-4272(2018).
CC   -!- FUNCTION: Non-regulatory myosin light chain required for proper
CC       formation and/or maintenance of myofibers, and thus appropriate muscle
CC       function. {ECO:0000269|PubMed:30215711}.
CC   -!- SUBUNIT: Myosin is a hexamer of 2 heavy chains and 4 light chains. Does
CC       not bind calcium. {ECO:0000305}.
CC   -!- TISSUE SPECIFICITY: Expressed in fast muscle fibers during skeletal
CC       muscle differentiation. {ECO:0000269|PubMed:21674687}.
CC   -!- DISRUPTION PHENOTYPE: Morphant embryos have curved bodies, bent tails
CC       and a marked reduction in touch-evoked escape response. Muscle
CC       structure is altered and myofibers are sparse and disordered.
CC       {ECO:0000269|PubMed:30215711}.
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
DR   EMBL; CR812481; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC059795; AAH59795.1; -; mRNA.
DR   EMBL; BC065629; AAH65629.1; -; mRNA.
DR   RefSeq; NP_956294.1; NM_200000.1.
DR   AlphaFoldDB; Q6P0G6; -.
DR   SMR; Q6P0G6; -.
DR   STRING; 7955.ENSDARP00000004932; -.
DR   PaxDb; Q6P0G6; -.
DR   PRIDE; Q6P0G6; -.
DR   Ensembl; ENSDART00000014207; ENSDARP00000004932; ENSDARG00000014196.
DR   GeneID; 336165; -.
DR   KEGG; dre:336165; -.
DR   CTD; 4632; -.
DR   ZFIN; ZDB-GENE-030131-8109; myl1.
DR   eggNOG; KOG0030; Eukaryota.
DR   GeneTree; ENSGT01030000234570; -.
DR   HOGENOM; CLU_061288_13_0_1; -.
DR   InParanoid; Q6P0G6; -.
DR   OMA; PNTEDMA; -.
DR   OrthoDB; 1470794at2759; -.
DR   PhylomeDB; Q6P0G6; -.
DR   TreeFam; TF351553; -.
DR   PRO; PR:Q6P0G6; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Chromosome 9.
DR   Bgee; ENSDARG00000014196; Expressed in bone element and 32 other tissues.
DR   GO; GO:0043292; C:contractile fiber; IBA:GO_Central.
DR   GO; GO:0016460; C:myosin II complex; IBA:GO_Central.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   GO; GO:0007519; P:skeletal muscle tissue development; IMP:ZFIN.
DR   CDD; cd00051; EFh; 1.
DR   InterPro; IPR011992; EF-hand-dom_pair.
DR   InterPro; IPR002048; EF_hand_dom.
DR   SUPFAM; SSF47473; SSF47473; 1.
DR   PROSITE; PS50222; EF_HAND_2; 2.
PE   2: Evidence at transcript level;
KW   Reference proteome; Repeat.
FT   INIT_MET        1
FT                   /note="Removed"
FT                   /evidence="ECO:0000250|UniProtKB:P02602"
FT   CHAIN           2..190
FT                   /note="Myosin, light chain 1, alkali; skeletal, fast"
FT                   /id="PRO_0000448340"
FT   DOMAIN          46..81
FT                   /note="EF-hand 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT   DOMAIN          123..158
FT                   /note="EF-hand 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT   REGION          1..33
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1..15
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   190 AA;  20932 MW;  0AD995400184E89F CRC64;
     MAPKKDAKKP EPPKKAEPAP APAPAPEPPK ADAVDLSGVK LDFTQDQMED YREAFLLFDR
     VGDSKVAYNQ IADIMRALGQ NPTNKEVTKI LGNPTADDMV NKRVDFEGFL PMLQVVINNP
     NKATYDDYVE GLRVFDKEGN GTVMGAELRI VLSTLGEKMS EAEIDALMQG QEDENGCVNY
     EAFVKHIMSV
 
 
维奥蛋白资源库 - 中文蛋白资源 CopyRight © 2010-2024