MYMX_DANRE
ID MYMX_DANRE Reviewed; 75 AA.
AC P0DP88;
DT 27-SEP-2017, integrated into UniProtKB/Swiss-Prot.
DT 27-SEP-2017, sequence version 1.
DT 03-AUG-2022, entry version 11.
DE RecName: Full=Protein myomixer {ECO:0000303|PubMed:29078404};
GN Name=mymx {ECO:0000250|UniProtKB:Q2Q5T5};
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 FUNCTION.
RX PubMed=28386024; DOI=10.1126/science.aam9361;
RA Bi P., Ramirez-Martinez A., Li H., Cannavino J., McAnally J.R.,
RA Shelton J.M., Sanchez-Ortiz E., Bassel-Duby R., Olson E.N.;
RT "Control of muscle formation by the fusogenic micropeptide myomixer.";
RL Science 356:323-327(2017).
RN [3]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE,
RP DOMAIN, DISRUPTION PHENOTYPE, AND MUTAGENESIS OF 58-ALA--LEU-67 AND
RP 62-CYS--CYS-65.
RX PubMed=29078404; DOI=10.1073/pnas.1715229114;
RA Shi J., Bi P., Pei J., Li H., Grishin N.V., Bassel-Duby R., Chen E.H.,
RA Olson E.N.;
RT "Requirement of the fusogenic micropeptide myomixer for muscle formation in
RT zebrafish.";
RL Proc. Natl. Acad. Sci. U.S.A. 114:11950-11955(2017).
CC -!- FUNCTION: Myoblast-specific protein that mediates myoblast fusion, an
CC essential step for the formation of multi-nucleated muscle fibers
CC (PubMed:28386024, PubMed:29078404). Involved in membrane fusion
CC downstream of the lipid mixing step mediated by mymk. Acts by
CC generating membrane stresses via its extracellular C-terminus, leading
CC to drive fusion pore formation (By similarity).
CC {ECO:0000250|UniProtKB:Q2Q5T5, ECO:0000269|PubMed:28386024,
CC ECO:0000269|PubMed:29078404}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:29078404};
CC Single-pass membrane protein {ECO:0000250|UniProtKB:Q2Q5T5}.
CC -!- TISSUE SPECIFICITY: Specifically expressed in the developing myotome.
CC {ECO:0000269|PubMed:29078404}.
CC -!- DEVELOPMENTAL STAGE: Expression coincides with myogenesis: expression
CC is initiated between 12 and 14 hours post-fertilization (hpf), peaks at
CC 19.5 hpf, gradually decreases thereafter and disappears at 36 hpf
CC (PubMed:29078404). Specifically expressed in the developing somites,
CC concomitant with muscle differentiation (PubMed:29078404). Present in
CC all developing myotomes in 14-hpf (10 somites), 18-hpf (18-19 somites),
CC and 19.5-hpf (21 somites) embryos (PubMed:29078404). As somitogenesis
CC proceeds along the anteroposterior axis, expression gradually
CC disappears from the differentiated anterior somites and shifts to the
CC more caudal somites (PubMed:29078404). Not expressed in craniofacial
CC muscles and the paraxial mesoderm (PubMed:29078404).
CC {ECO:0000269|PubMed:29078404}.
CC -!- DOMAIN: The AxLyCxL motif is required for myoblast fusion.
CC {ECO:0000269|PubMed:29078404}.
CC -!- DISRUPTION PHENOTYPE: Abolished myoblast fusion.
CC {ECO:0000269|PubMed:29078404}.
CC -!- SIMILARITY: Belongs to the MYMX family. {ECO:0000305}.
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DR EMBL; CU929120; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; P0DP88; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Unplaced.
DR GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0007520; P:myoblast fusion; IDA:UniProtKB.
DR GO; GO:0014905; P:myoblast fusion involved in skeletal muscle regeneration; ISS:UniProtKB.
DR GO; GO:0045026; P:plasma membrane fusion; IMP:UniProtKB.
DR GO; GO:0060538; P:skeletal muscle organ development; ISS:UniProtKB.
DR GO; GO:0043403; P:skeletal muscle tissue regeneration; ISS:UniProtKB.
PE 1: Evidence at protein level;
KW Cell membrane; Membrane; Myogenesis; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..75
FT /note="Protein myomixer"
FT /id="PRO_0000441743"
FT TOPO_DOM 1..5
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:Q2Q5T5"
FT TRANSMEM 6..28
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 29..75
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:Q2Q5T5"
FT MOTIF 58..67
FT /note="AxLyCxL"
FT /evidence="ECO:0000269|PubMed:29078404"
FT MUTAGEN 58..67
FT /note="Missing: Abolished ability to mediate myoblast
FT fusion."
FT /evidence="ECO:0000269|PubMed:29078404"
FT MUTAGEN 62..65
FT /note="CVLC->AVLA: Decreased but not abolished ability to
FT mediate myoblast fusion."
FT /evidence="ECO:0000269|PubMed:29078404"
SQ SEQUENCE 75 AA; 8328 MW; 6B98F5F0C259A94A CRC64;
MPAVFLLLRS LVVRLFGSRL AASGVQLLRR ILTTATGHLG TVLRNIWERI SSQQSKEAIL
GCVLCLLNMH KKVDN
