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}.
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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