MY11A_DANRE
ID MY11A_DANRE Reviewed; 169 AA.
AC O93409;
DT 29-SEP-2021, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1998, sequence version 1.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=Myosin regulatory light chain 11;
DE AltName: Full=Fast skeletal myosin light chain 2 {ECO:0000303|PubMed:10025512};
DE AltName: Full=Myosin light chain 11;
DE AltName: Full=Myosin regulatory light chain 2, skeletal muscle isoform A;
GN Name=myl11a;
GN Synonyms=mlc2f {ECO:0000303|PubMed:10025512}, mylpfa,
GN mylz2 {ECO:0000303|PubMed:10025512};
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 [MRNA], AND DEVELOPMENTAL STAGE.
RC TISSUE=Skeletal muscle;
RX PubMed=10025512; DOI=10.1089/104454999315655;
RA Xu Y., He J., Tian H.L., Chan C.H., Liao J., Yan T., Lam T.J., Gong Z.;
RT "Fast skeletal muscle-specific expression of a zebrafish myosin light chain
RT 2 gene and characterization of its promoter by direct injection into
RT skeletal muscle.";
RL DNA Cell Biol. 18:85-95(1999).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP DISRUPTION PHENOTYPE, AND FUNCTION.
RX PubMed=32707087; DOI=10.1016/j.ajhg.2020.06.014;
RG University of Washington Center for Mendelian Genomics;
RA Chong J.X., Talbot J.C., Teets E.M., Previs S., Martin B.L., Shively K.M.,
RA Marvin C.T., Aylsworth A.S., Saadeh-Haddad R., Schatz U.A., Inzana F.,
RA Ben-Omran T., Almusafri F., Al-Mulla M., Buckingham K.J., Harel T.,
RA Mor-Shaked H., Radhakrishnan P., Girisha K.M., Nayak S.S., Shukla A.,
RA Dieterich K., Faure J., Rendu J., Capri Y., Latypova X., Nickerson D.A.,
RA Warshaw D.M., Janssen P.M.L., Amacher S.L., Bamshad M.J.;
RT "Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as
RT Distal Arthrogryposis.";
RL Am. J. Hum. Genet. 107:293-310(2020).
CC -!- FUNCTION: Myosin regulatory subunit that plays a role to maintain
CC muscle integrity during early development (PubMed:32707087). Plays a
CC role in muscle contraction (PubMed:32707087).
CC {ECO:0000269|PubMed:32707087}.
CC -!- SUBUNIT: Myosin is a hexamer of 2 heavy chains and 4 light chains.
CC {ECO:0000305}.
CC -!- DEVELOPMENTAL STAGE: Expressed in both embryos and adult fish, and the
CC expression is specifically in fast skeletal muscle.
CC {ECO:0000269|PubMed:10025512}.
CC -!- DISRUPTION PHENOTYPE: Knockout myl11a mutant have reduced trunk
CC contractile force and complete pectoral fin paralysis. Muscle weakness
CC is most pronounced in an appendicular muscle and is explained by
CC reduced myosin activity and fiber degeneration.
CC {ECO:0000269|PubMed:32707087}.
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DR EMBL; AF081462; AAC32193.1; -; mRNA.
DR EMBL; BX571714; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC045520; AAH45520.1; -; mRNA.
DR EMBL; BC163956; AAI63956.1; -; mRNA.
DR RefSeq; NP_571263.1; NM_131188.2.
DR AlphaFoldDB; O93409; -.
DR SMR; O93409; -.
DR STRING; 7955.ENSDARP00000069948; -.
DR PaxDb; O93409; -.
DR PRIDE; O93409; -.
DR Ensembl; ENSDART00000075465; ENSDARP00000069948; ENSDARG00000053254.
DR GeneID; 30429; -.
DR KEGG; dre:30429; -.
DR CTD; 30429; -.
DR ZFIN; ZDB-GENE-990712-15; mylpfa.
DR eggNOG; KOG0031; Eukaryota.
DR GeneTree; ENSGT00940000159038; -.
DR HOGENOM; CLU_061288_9_0_1; -.
DR InParanoid; O93409; -.
DR OMA; KRDCGKI; -.
DR OrthoDB; 1435392at2759; -.
DR PhylomeDB; O93409; -.
DR TreeFam; TF314218; -.
DR Reactome; R-DRE-445355; Smooth Muscle Contraction.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 3.
DR Bgee; ENSDARG00000053254; Expressed in bone element and 19 other tissues.
DR ExpressionAtlas; O93409; baseline.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0016459; C:myosin complex; IEA:UniProtKB-KW.
DR GO; GO:0005509; F:calcium ion binding; IBA:GO_Central.
DR GO; GO:0033275; P:actin-myosin filament sliding; IMP:UniProtKB.
DR GO; GO:0006936; P:muscle contraction; ISS:UniProtKB.
DR GO; GO:0060415; P:muscle tissue morphogenesis; IMP:UniProtKB.
DR GO; GO:0007519; P:skeletal muscle tissue development; IBA:GO_Central.
DR CDD; cd00051; EFh; 1.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR Pfam; PF00036; EF-hand_1; 1.
DR SMART; SM00054; EFh; 2.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS00018; EF_HAND_1; 1.
DR PROSITE; PS50222; EF_HAND_2; 3.
PE 2: Evidence at transcript level;
KW Calcium; Metal-binding; Motor protein; Muscle protein; Myosin;
KW Reference proteome; Repeat.
FT CHAIN 1..169
FT /note="Myosin regulatory light chain 11"
FT /id="PRO_0000453722"
FT DOMAIN 26..61
FT /note="EF-hand 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 96..131
FT /note="EF-hand 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 132..167
FT /note="EF-hand 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 39
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU10142"
FT BINDING 41
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU10142"
FT BINDING 43
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU10142"
FT BINDING 50
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU10142"
SQ SEQUENCE 169 AA; 18865 MW; 12A7DE26809AAAF4 CRC64;
MAPKKAKRRA AGGEGSSNVF SMFEQSQIQE YKEAFTIIDQ NRDGIISKDD LRDVLASMGQ
LNVKNEELEA MIKEASGPIN FTVFLTMFGE KLKGADPEDV IVSAFKVLDP EGTGSIKKEF
LEELLTTQCD RFTAEEMKNL WAAFPPDVAG NVDYKNICYV ITHGEEKEE
