MYMX_HUMAN
ID MYMX_HUMAN Reviewed; 84 AA.
AC A0A1B0GTQ4; A0A223PZB9;
DT 27-SEP-2017, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2016, sequence version 1.
DT 03-AUG-2022, entry version 31.
DE RecName: Full=Protein myomixer {ECO:0000250|UniProtKB:Q2Q5T5};
DE AltName: Full=Microprotein inducer of fusion {ECO:0000303|PubMed:28569745};
DE Short=Protein minion {ECO:0000303|PubMed:28569745};
DE Short=hMINION {ECO:0000303|PubMed:28569745};
GN Name=MYMX {ECO:0000312|HGNC:HGNC:52391};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1] {ECO:0000312|EMBL:ASU50679.1}
RP NUCLEOTIDE SEQUENCE [MRNA], AND FUNCTION.
RX PubMed=28569745; DOI=10.1038/ncomms15664;
RA Zhang Q., Vashisht A.A., O'Rourke J., Corbel S.Y., Moran R., Romero A.,
RA Miraglia L., Zhang J., Durrant E., Schmedt C., Sampath S.C., Sampath S.C.;
RT "The microprotein Minion controls cell fusion and muscle formation.";
RL Nat. Commun. 8:15664-15664(2017).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
CC -!- FUNCTION: Myoblast-specific protein that mediates myoblast fusion, an
CC essential step for the formation of multi-nucleated muscle fibers
CC (PubMed:28569745). Involved in membrane fusion downstream of the lipid
CC mixing step mediated by MYMK (By similarity). Acts by generating
CC membrane stresses via its extracellular C-terminus, leading to drive
CC fusion pore formation. Acts independently of MYMK (By similarity).
CC Involved in skeletal muscle regeneration in response to injury by
CC mediating the fusion of satellite cells, a population of muscle stem
CC cells, with injured myofibers (By similarity).
CC {ECO:0000250|UniProtKB:Q2Q5T5, ECO:0000269|PubMed:28569745}.
CC -!- SUBUNIT: Interacts with MYMK. {ECO:0000250|UniProtKB:Q2Q5T5}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q2Q5T5};
CC Single-pass membrane protein {ECO:0000250|UniProtKB:Q2Q5T5}.
CC -!- DOMAIN: The AxLyCxL motif is required for myoblast fusion.
CC {ECO:0000250|UniProtKB:P0DP88}.
CC -!- SIMILARITY: Belongs to the MYMX family. {ECO:0000305}.
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DR EMBL; KY857877; ASU50679.1; -; mRNA.
DR EMBL; AL139392; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS83093.1; -.
DR RefSeq; NP_001302423.1; NM_001315494.1.
DR RefSeq; NP_001334860.1; NM_001347931.1.
DR RefSeq; XP_016865645.1; XM_017010156.1.
DR AlphaFoldDB; A0A1B0GTQ4; -.
DR SMR; A0A1B0GTQ4; -.
DR BioMuta; MYMX; -.
DR PeptideAtlas; A0A1B0GTQ4; -.
DR Antibodypedia; 78826; 5 antibodies from 3 providers.
DR Ensembl; ENST00000573382.3; ENSP00000490143.1; ENSG00000262179.3.
DR Ensembl; ENST00000576476.1; ENSP00000489797.1; ENSG00000262179.3.
DR GeneID; 101929726; -.
DR KEGG; hsa:101929726; -.
DR MANE-Select; ENST00000573382.3; ENSP00000490143.1; NM_001315494.2; NP_001302423.1.
DR CTD; 101929726; -.
DR DisGeNET; 101929726; -.
DR GeneCards; MYMX; -.
DR HGNC; HGNC:52391; MYMX.
DR HPA; ENSG00000262179; Group enriched (adipose tissue, breast, pancreas, stomach).
DR neXtProt; NX_A0A1B0GTQ4; -.
DR OpenTargets; ENSG00000262179; -.
DR VEuPathDB; HostDB:ENSG00000262179; -.
DR GeneTree; ENSGT00490000044373; -.
DR OMA; CLGSQDM; -.
DR OrthoDB; 1636462at2759; -.
DR PhylomeDB; A0A1B0GTQ4; -.
DR BioGRID-ORCS; 101929726; 0 hits in 7 CRISPR screens.
DR Pharos; A0A1B0GTQ4; Tdark.
DR PRO; PR:A0A1B0GTQ4; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; A0A1B0GTQ4; protein.
DR Bgee; ENSG00000262179; Expressed in adipose tissue and 92 other tissues.
DR ExpressionAtlas; A0A1B0GTQ4; baseline and differential.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IBA:GO_Central.
DR GO; GO:0000139; C:Golgi membrane; IBA:GO_Central.
DR GO; GO:0005887; C:integral component of plasma membrane; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0007520; P:myoblast fusion; IGI:UniProtKB.
DR GO; GO:0014905; P:myoblast fusion involved in skeletal muscle regeneration; ISS:UniProtKB.
DR GO; GO:0045026; P:plasma membrane fusion; ISS:UniProtKB.
DR GO; GO:0060538; P:skeletal muscle organ development; ISS:UniProtKB.
DR GO; GO:0043403; P:skeletal muscle tissue regeneration; ISS:UniProtKB.
DR InterPro; IPR039014; Myomixer.
DR PANTHER; PTHR41686; PTHR41686; 1.
PE 3: Inferred from homology;
KW Cell membrane; Membrane; Myogenesis; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..84
FT /note="Protein myomixer"
FT /id="PRO_5010077027"
FT TOPO_DOM 1..4
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:Q2Q5T5"
FT TRANSMEM 5..25
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 26..84
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:Q2Q5T5"
FT REGION 62..84
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 48..57
FT /note="AxLyCxL"
FT /evidence="ECO:0000250|UniProtKB:P0DP88"
FT COMPBIAS 65..84
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 84 AA; 9607 MW; 59A72AE2E10CAC2D CRC64;
MPTPLLPLLL RLLLSCLLLP AARLARQYLL PLLRRLARRL GSQDMREALL GCLLFILSQR
HSPDAGEASR VDRLERRERL GPQK
