MYMK_DANRE
ID MYMK_DANRE Reviewed; 220 AA.
AC Q6IQ69;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 94.
DE RecName: Full=Protein myomaker {ECO:0000250|UniProtKB:Q9D1N4};
DE AltName: Full=Myoblast fusion maker {ECO:0000250|UniProtKB:Q9D1N4};
DE AltName: Full=Transmembrane protein 8C;
GN Name=mymk {ECO:0000250|UniProtKB:Q9D1N4};
GN Synonyms=tmem8c {ECO:0000250|UniProtKB:A6NI61};
GN ORFNames=zgc:86927 {ECO:0000303|Ref.1};
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 MRNA].
RC TISSUE=Embryo;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP FUNCTION, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX PubMed=25078621; DOI=10.1016/j.bbrc.2014.07.093;
RA Landemaine A., Rescan P.Y., Gabillard J.C.;
RT "Myomaker mediates fusion of fast myocytes in zebrafish embryos.";
RL Biochem. Biophys. Res. Commun. 451:480-484(2014).
RN [3]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=28681861; DOI=10.1038/ncomms16077;
RG Moebius Syndrome Research Consortium;
RA Di Gioia S.A., Connors S., Matsunami N., Cannavino J., Rose M.F.,
RA Gilette N.M., Artoni P., de Macena Sobreira N.L., Chan W.M., Webb B.D.,
RA Robson C.D., Cheng L., Van Ryzin C., Ramirez-Martinez A., Mohassel P.,
RA Leppert M., Scholand M.B., Grunseich C., Ferreira C.R., Hartman T.,
RA Hayes I.M., Morgan T., Markie D.M., Fagiolini M., Swift A., Chines P.S.,
RA Speck-Martins C.E., Collins F.S., Jabs E.W., Boennemann C.G., Olson E.N.,
RA Carey J.C., Robertson S.P., Manoli I., Engle E.C.;
RT "A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.";
RL Nat. Commun. 8:16077-16077(2017).
RN [4]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=28161523; DOI=10.1016/j.ydbio.2017.01.019;
RA Zhang W., Roy S.;
RT "Myomaker is required for the fusion of fast-twitch myocytes in the
RT zebrafish embryo.";
RL Dev. Biol. 423:24-33(2017).
RN [5]
RP DEVELOPMENTAL STAGE.
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).
RN [6]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=30016436; DOI=10.1093/hmg/ddy268;
RA Shi J., Cai M., Si Y., Zhang J., Du S.;
RT "Knockout of myomaker results in defective myoblast fusion, reduced muscle
RT growth and increased adipocyte infiltration in zebrafish skeletal muscle.";
RL Hum. Mol. Genet. 27:3542-3554(2018).
CC -!- FUNCTION: Myoblast-specific protein that mediates myoblast fusion, an
CC essential step for the formation of multi-nucleated muscle fibers
CC (PubMed:25078621, PubMed:28681861, PubMed:28161523, PubMed:30016436).
CC Actively participates in the membrane fusion reaction by mediating the
CC mixing of cell membrane lipids (hemifusion) upstream of mymx (By
CC similarity). {ECO:0000250|UniProtKB:Q9D1N4,
CC ECO:0000269|PubMed:25078621, ECO:0000269|PubMed:28161523,
CC ECO:0000269|PubMed:28681861, ECO:0000269|PubMed:30016436}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9D1N4};
CC Multi-pass membrane protein {ECO:0000255}. Note=Localizes on the cell
CC surface of myoblasts. {ECO:0000250|UniProtKB:Q9D1N4}.
CC -!- DEVELOPMENTAL STAGE: Specifically expressed in the developing somites,
CC concomitant with muscle differentiation. {ECO:0000269|PubMed:25078621,
CC ECO:0000269|PubMed:29078404}.
CC -!- DISRUPTION PHENOTYPE: Homozygous knockout animals are viable
CC (PubMed:28681861). While, larval and early juvenile fish show no overt
CC phenotype, adult animals are small and develop craniofacial deformities
CC (PubMed:28681861, PubMed:30016436). Mutant embryos lack fast-twitch
CC myoblast fusion at 24 hours post-fertilization (hpf) (PubMed:25078621,
CC PubMed:28681861, PubMed:28161523, PubMed:30016436). No alteration in
CC the organization of slow-twitch myofibers, that do not fuse
CC (PubMed:28681861, PubMed:30016436). In adults, fast-twitch musculature
CC shows variably-sized hypotrophic fibers with variable degrees of fatty
CC infiltration compared to wild-type siblings (PubMed:28681861,
CC PubMed:30016436). {ECO:0000269|PubMed:25078621,
CC ECO:0000269|PubMed:28161523, ECO:0000269|PubMed:28681861,
CC ECO:0000269|PubMed:30016436}.
CC -!- SIMILARITY: Belongs to the TMEM8 family. {ECO:0000305}.
CC -!- CAUTION: According to a report, morpholino knockdown in embryos is
CC lethal (PubMed:25078621). Other publications report that morpholino
CC knockdown animals are viable (PubMed:28681861, PubMed:28161523,
CC PubMed:30016436). {ECO:0000269|PubMed:25078621,
CC ECO:0000269|PubMed:28161523, ECO:0000269|PubMed:28681861,
CC ECO:0000269|PubMed:30016436}.
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DR EMBL; BC071541; AAH71541.1; -; mRNA.
DR RefSeq; NP_001002088.1; NM_001002088.1.
DR RefSeq; XP_017211543.1; XM_017356054.1.
DR AlphaFoldDB; Q6IQ69; -.
DR STRING; 7955.ENSDARP00000039105; -.
DR TCDB; 1.N.2.1.4; the myoblast fusion complex (mfc) family.
DR PaxDb; Q6IQ69; -.
DR Ensembl; ENSDART00000161578; ENSDARP00000132422; ENSDARG00000103988.
DR Ensembl; ENSDART00000190969; ENSDARP00000149896; ENSDARG00000103988.
DR GeneID; 415178; -.
DR KEGG; dre:415178; -.
DR CTD; 389827; -.
DR ZFIN; ZDB-GENE-040625-66; mymk.
DR eggNOG; ENOG502REE6; Eukaryota.
DR GeneTree; ENSGT00940000160710; -.
DR HOGENOM; CLU_084233_0_0_1; -.
DR InParanoid; Q6IQ69; -.
DR OMA; QFHMEAM; -.
DR OrthoDB; 704708at2759; -.
DR PhylomeDB; Q6IQ69; -.
DR PRO; PR:Q6IQ69; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 5.
DR Bgee; ENSDARG00000103988; Expressed in post-anal tail and 6 other tissues.
DR GO; GO:0030173; C:integral component of Golgi membrane; ISS:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; ISS:UniProtKB.
DR GO; GO:0016020; C:membrane; IDA:ZFIN.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0007517; P:muscle organ development; IEA:UniProtKB-KW.
DR GO; GO:0007520; P:myoblast fusion; IMP:UniProtKB.
DR GO; GO:0045026; P:plasma membrane fusion; ISS:UniProtKB.
DR GO; GO:1904206; P:positive regulation of skeletal muscle hypertrophy; ISS:UniProtKB.
DR InterPro; IPR021910; NGX6/PGAP6/MYMK.
DR PANTHER; PTHR14319; PTHR14319; 1.
DR Pfam; PF12036; DUF3522; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; Membrane; Myogenesis; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..220
FT /note="Protein myomaker"
FT /id="PRO_0000319064"
FT TOPO_DOM 1
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 2..22
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 23..37
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 38..58
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 59..64
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 65..85
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 86..93
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 94..110
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 111..112
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:Q9D1N4"
FT TRANSMEM 113..133
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 134..153
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:Q9D1N4"
FT TRANSMEM 154..174
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 175
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 176..196
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 197..220
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
SQ SEQUENCE 220 AA; 24751 MW; 4D9BAC2445F398DC CRC64;
MGAFIAKMLL PTISSLVFVP AASVAAKRGF HMEAMVYFFT MFFTAIYHAC DGPGLSILCF
MKYDILEYFS VYGTAISMWV TLLALGDFDE PKRSSLTMFG VLTAAVRIYQ DRLGYGIYSG
PIGTAVFMIT VKWLQKMKEK KGLYPDKSVY TQQVGPGCCF GALALMLRFY FEEWDYAYVH
SFYHVSLAMS FILLLPKKNR YAGTGRNAAK LNCYTLCCCV
