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Protein myomixer (Embryonic stem cell- and germ cell-specific protein) (ESGP) (Microprotein inducer of fusion) (Protein minion) (Protein myomerger)

 MYMX_MOUSE              Reviewed;          84 AA.
Q2Q5T5; E9PXI1;
27-SEP-2017, integrated into UniProtKB/Swiss-Prot.
24-JAN-2006, sequence version 1.
23-MAY-2018, entry version 84.
RecName: Full=Protein myomixer {ECO:0000303|PubMed:28386024};
AltName: Full=Embryonic stem cell- and germ cell-specific protein {ECO:0000303|PubMed:16331322};
Short=ESGP {ECO:0000303|PubMed:16331322};
AltName: Full=Microprotein inducer of fusion {ECO:0000303|PubMed:28569745};
Short=Protein minion {ECO:0000303|PubMed:28569745};
AltName: Full=Protein myomerger {ECO:0000303|PubMed:28569755};
Name=Mymx {ECO:0000312|MGI:MGI:3649059};
Synonyms=Gm7325 {ECO:0000312|MGI:MGI:3649059};
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
STRAIN=129/Sv;
PubMed=16331322; DOI=10.1111/j.1745-7270.2005.00120.x;
Chen Y.M., Du Z.W., Yao Z.;
"Molecular cloning and functional analysis of ESGP, an embryonic stem
cell and germ cell specific protein.";
Acta Biochim. Biophys. Sin. 37:789-796(2005).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=C57BL/6J;
PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S.,
She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W.,
Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T.,
Zhou S., Teague B., Potamousis K., Churas C., Place M., Herschleb J.,
Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z.,
Lindblad-Toh K., Eichler E.E., Ponting C.P.;
"Lineage-specific biology revealed by a finished genome assembly of
the mouse.";
PLoS Biol. 7:E1000112-E1000112(2009).
[3]
FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION, AND
DISRUPTION PHENOTYPE.
PubMed=28569745; DOI=10.1038/ncomms15664;
Zhang Q., Vashisht A.A., O'Rourke J., Corbel S.Y., Moran R.,
Romero A., Miraglia L., Zhang J., Durrant E., Schmedt C.,
Sampath S.C., Sampath S.C.;
"The microprotein Minion controls cell fusion and muscle formation.";
Nat. Commun. 8:15664-15664(2017).
[4]
FUNCTION, ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), SUBCELLULAR
LOCATION, TISSUE SPECIFICITY, INDUCTION, AND DISRUPTION PHENOTYPE.
PubMed=28569755; DOI=10.1038/ncomms15665;
Quinn M.E., Goh Q., Kurosaka M., Gamage D.G., Petrany M.J., Prasad V.,
Millay D.P.;
"Myomerger induces fusion of non-fusogenic cells and is required for
skeletal muscle development.";
Nat. Commun. 8:15665-15665(2017).
[5]
FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION,
DISRUPTION PHENOTYPE, INTERACTION WITH MYMK, AND MUTAGENESIS OF
ARG-34; ARG-38; ARG-46 AND CYS-52.
PubMed=28386024; DOI=10.1126/science.aam9361;
Bi P., Ramirez-Martinez A., Li H., Cannavino J., McAnally J.R.,
Shelton J.M., Sanchez-Ortiz E., Bassel-Duby R., Olson E.N.;
"Control of muscle formation by the fusogenic micropeptide myomixer.";
Science 356:323-327(2017).
-!- FUNCTION: Myoblast-specific protein that mediates myoblast fusion,
an essential step for the formation of multi-nucleated muscle
fibers (PubMed:28569745, PubMed:28569755, PubMed:28386024).
Probably acts by mediating the mixing of cell membranes
(PubMed:28386024). Associates with MYMK to promote myoblast fusion
(PubMed:28386024). {ECO:0000269|PubMed:28386024,
ECO:0000269|PubMed:28569745, ECO:0000269|PubMed:28569755}.
-!- SUBUNIT: Interacts with MYMK (PubMed:28386024).
{ECO:0000269|PubMed:28386024}.
-!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28386024,
ECO:0000269|PubMed:28569745, ECO:0000269|PubMed:28569755};
Peripheral membrane protein {ECO:0000305|PubMed:28386024}.
Note=The protein is embedded in the cell membrane
(PubMed:28386024). It is unclear whether the N-terminal
hydrophobic region corresponds to a signal sequence, a
transmembrane region or associates with the membrane without
crossing it. {ECO:0000269|PubMed:28386024}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1; Synonyms=myomerger-short {ECO:0000303|PubMed:28569755}, S
{ECO:0000303|PubMed:28569755};
IsoId=Q2Q5T5-1; Sequence=Displayed;
Name=2; Synonyms=myomerger-long {ECO:0000303|PubMed:28569755}, L
{ECO:0000303|PubMed:28569755};
IsoId=Q2Q5T5-2; Sequence=VSP_059105;
-!- TISSUE SPECIFICITY: Specifically expressed in developing skeletal
muscles throughout the limbs and body wall (PubMed:28569745,
PubMed:28569755, PubMed:28386024). {ECO:0000269|PubMed:28386024,
ECO:0000269|PubMed:28569745, ECO:0000269|PubMed:28569755}.
-!- INDUCTION: Up-regulated during differentiation of myoblasts
(PubMed:28569745, PubMed:28569755, PubMed:28386024). During muscle
regeneration (PubMed:28569745, PubMed:28569755, PubMed:28386024).
{ECO:0000269|PubMed:28386024, ECO:0000269|PubMed:28569745,
ECO:0000269|PubMed:28569755}.
-!- DISRUPTION PHENOTYPE: Perinatal death due to a reduction in fused
muscle fibers (PubMed:28569745). Embryos are motionless and lack
skeletal muscle: they are nearly transparent so that internal
organs and bones are apparent (PubMed:28386024). Myocytes
differentiate and harbor organized sarcomeres but are fusion-
incompetent (PubMed:28569745, PubMed:28569755, PubMed:28386024).
{ECO:0000269|PubMed:28386024, ECO:0000269|PubMed:28569745,
ECO:0000269|PubMed:28569755}.
-!- SIMILARITY: Belongs to the MYMX family. {ECO:0000305}.
-!- CAUTION: Was initially reported to be specifically expressed in
embryonic stem cells and germ cells (PubMed:16331322). However, it
was later shown by different groups that it is specifically
expressed in myoblasts where it promotes myoblast fusion
(PubMed:28569745, PubMed:28569755, PubMed:28386024).
{ECO:0000269|PubMed:16331322, ECO:0000269|PubMed:28386024,
ECO:0000269|PubMed:28569745, ECO:0000269|PubMed:28569755}.
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EMBL; DQ190000; ABA86951.1; -; mRNA.
EMBL; AC163677; -; NOT_ANNOTATED_CDS; Genomic_DNA.
CCDS; CCDS50119.1; -. [Q2Q5T5-1]
CCDS; CCDS50120.1; -. [Q2Q5T5-2]
RefSeq; NP_001170939.1; NM_001177468.1. [Q2Q5T5-1]
RefSeq; NP_001170940.1; NM_001177469.1. [Q2Q5T5-1]
RefSeq; NP_001170941.1; NM_001177470.1. [Q2Q5T5-2]
RefSeq; XP_006524852.1; XM_006524789.2. [Q2Q5T5-1]
RefSeq; XP_006524853.1; XM_006524790.1. [Q2Q5T5-1]
UniGene; Mm.45676; -.
SMR; Q2Q5T5; -.
PRIDE; Q2Q5T5; -.
Ensembl; ENSMUST00000113529; ENSMUSP00000109157; ENSMUSG00000079471. [Q2Q5T5-1]
Ensembl; ENSMUST00000169137; ENSMUSP00000126690; ENSMUSG00000079471. [Q2Q5T5-2]
Ensembl; ENSMUST00000178858; ENSMUSP00000137630; ENSMUSG00000079471. [Q2Q5T5-1]
Ensembl; ENSMUST00000208801; ENSMUSP00000146823; ENSMUSG00000079471. [Q2Q5T5-1]
GeneID; 653016; -.
KEGG; mmu:653016; -.
UCSC; uc008crg.2; mouse. [Q2Q5T5-1]
CTD; 101929726; -.
MGI; MGI:3649059; Mymx.
eggNOG; ENOG410JHUS; Eukaryota.
eggNOG; ENOG4111CBN; LUCA.
GeneTree; ENSGT00490000044373; -.
HOGENOM; HOG000128557; -.
InParanoid; E9PXI1; -.
OMA; FILSQRH; -.
OrthoDB; EOG091G1AUQ; -.
PRO; PR:Q2Q5T5; -.
Proteomes; UP000000589; Chromosome 17.
Bgee; ENSMUSG00000079471; -.
ExpressionAtlas; Q2Q5T5; baseline and differential.
Genevisible; E9PXI1; MM.
GO; GO:0005789; C:endoplasmic reticulum membrane; IDA:UniProtKB.
GO; GO:0000139; C:Golgi membrane; IDA:UniProtKB.
GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
GO; GO:0007520; P:myoblast fusion; IDA:UniProtKB.
GO; GO:0045026; P:plasma membrane fusion; IDA:UniProtKB.
GO; GO:0060538; P:skeletal muscle organ development; IMP:UniProtKB.
1: Evidence at protein level;
Alternative splicing; Cell membrane; Complete proteome; Membrane;
Myogenesis; Reference proteome.
CHAIN 1 84 Protein myomixer.
/FTId=PRO_5010681111.
VAR_SEQ 1 1 M -> MPEESCTVKLIQLKTGEYRGAGPAM (in
isoform 2).
/FTId=VSP_059105.
MUTAGEN 34 34 R->E: Decreased interaction with MYMK
without affecting localization to the
cell membrane.
{ECO:0000269|PubMed:28386024}.
MUTAGEN 38 38 R->E: Decreased interaction with MYMK
without affecting localization to the
cell membrane.
{ECO:0000269|PubMed:28386024}.
MUTAGEN 46 46 R->E: Decreased interaction with MYMK
without affecting localization to the
cell membrane.
{ECO:0000269|PubMed:28386024}.
MUTAGEN 52 52 C->A: Abolishes the ability to mediate
myoblast fusion; does not affect
interaction with MYMK; does not affect
localization to the cell membrane.
{ECO:0000269|PubMed:28386024}.
SEQUENCE 84 AA; 9598 MW; 437421DE3152FA47 CRC64;
MPVPLLPMVL RSLLSRLLLP VARLARQHLL PLLRRLARRL SSQDMREALL SCLLFVLSQQ
QPPDSGEASR VDHSQRKERL GPQK


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