UniProtKB - Q2Q5T5 (MYMX_MOUSE)
Protein
Protein myomixer
Gene
Mymx
Organism
Mus musculus (Mouse)
Status
Functioni
Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:28386024, PubMed:28569745, PubMed:28569755, PubMed:30197239). Involved in membrane fusion downstream of the lipid mixing step mediated by MYMK (PubMed:30197239). Acts by generating membrane stresses via its extracellular C-terminus, leading to drive fusion pore formation (PubMed:30197239). Acts independently of MYMK (PubMed:30197239). Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers (PubMed:29581287).5 Publications
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).4 Publications
GO - Biological processi
- myoblast fusion Source: UniProtKB
- myoblast fusion involved in skeletal muscle regeneration Source: UniProtKB
- plasma membrane fusion Source: UniProtKB
- skeletal muscle organ development Source: UniProtKB
- skeletal muscle tissue regeneration Source: UniProtKB
Keywordsi
Biological process | Myogenesis |
Names & Taxonomyi
Protein namesi | Recommended name: Protein myomixer1 PublicationAlternative name(s): Embryonic stem cell- and germ cell-specific protein1 Publication Short name: ESGP1 Publication Microprotein inducer of fusion1 Publication Short name: Protein minion1 Publication Protein myomerger2 Publications |
Gene namesi | |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:3649059, Mymx |
Subcellular locationi
Plasma membrane
- Cell membrane 3 Publications; Single-pass membrane protein 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
Golgi apparatus
- Golgi membrane Source: UniProtKB
Plasma Membrane
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 4 | Cytoplasmic1 Publication | 4 | |
Transmembranei | 5 – 25 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 26 – 84 | Extracellular1 PublicationAdd BLAST | 59 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Disruption phenotypei
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:28386024, PubMed:28569745, PubMed:28569755). Myoblast fusion is impaired downstream of membrane lipid mixing step mediated by Mymk and defects caused by the absence of Mymx are due to impaired fusion pore formation (PubMed:30197239). Conditional deletion in activated muscle stem cells (satellite cells) in adults abolishes satellite cell fusion and prevents muscle regeneration, resulting in severe muscle degeneration after injury (PubMed:29581287).5 Publications
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 34 | R → E: Decreased interaction with MYMK without affecting localization to the cell membrane. 1 Publication | 1 | |
Mutagenesisi | 38 | R → E: Decreased interaction with MYMK without affecting localization to the cell membrane. 1 Publication | 1 | |
Mutagenesisi | 46 | R → E: Decreased interaction with MYMK without affecting localization to the cell membrane. 1 Publication | 1 | |
Mutagenesisi | 52 | C → A: Abolishes the ability to mediate myoblast fusion; does not affect interaction with MYMK; does not affect localization to the cell membrane. 1 Publication | 1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_5010681111 | 1 – 84 | Protein myomixerAdd BLAST | 84 |
Proteomic databases
PRIDEi | Q2Q5T5 |
Expressioni
Tissue specificityi
Specifically expressed in developing skeletal muscles throughout the limbs and body wall (PubMed:28569745, PubMed:28569755, PubMed:28386024).3 Publications
Inductioni
Up-regulated during differentiation of myoblasts (PubMed:28569745, PubMed:28569755, PubMed:28386024). During muscle regeneration (PubMed:28569745, PubMed:28569755, PubMed:28386024).3 Publications
Gene expression databases
Bgeei | ENSMUSG00000079471, Expressed in internal carotid artery and 160 other tissues |
ExpressionAtlasi | Q2Q5T5, baseline and differential |
Genevisiblei | E9PXI1, MM |
Interactioni
Subunit structurei
Interacts with MYMK (PubMed:28386024).
1 PublicationProtein-protein interaction databases
STRINGi | 10090.ENSMUSP00000126690 |
Miscellaneous databases
RNActi | Q2Q5T5, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 48 – 57 | AxLyCxLBy similarity | 10 |
Domaini
The AxLyCxL motif is required for myoblast fusion.By similarity
Sequence similaritiesi
Belongs to the MYMX family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502T3SF, Eukaryota |
GeneTreei | ENSGT00490000044373 |
HOGENOMi | CLU_2460615_0_0_1 |
OrthoDBi | 1636462at2759 |
PhylomeDBi | Q2Q5T5 |
Family and domain databases
InterProi | View protein in InterPro IPR039014, Myomixer |
PANTHERi | PTHR41686, PTHR41686, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q2Q5T5-1) [UniParc]FASTAAdd to basket
Also known as: myomerger-short1 Publication, S1 Publication
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPVPLLPMVL RSLLSRLLLP VARLARQHLL PLLRRLARRL SSQDMREALL
60 70 80
SCLLFVLSQQ QPPDSGEASR VDHSQRKERL GPQK
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_059105 | 1 | M → MPEESCTVKLIQLKTGEYRG AGPAM in isoform 2. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ190000 mRNA Translation: ABA86951.1 AC163677 Genomic DNA No translation available. |
CCDSi | CCDS50119.1 [Q2Q5T5-1] CCDS50120.1 [Q2Q5T5-2] |
RefSeqi | NP_001170939.1, NM_001177468.1 [Q2Q5T5-1] NP_001170940.1, NM_001177469.1 [Q2Q5T5-1] NP_001170941.1, NM_001177470.1 [Q2Q5T5-2] XP_006524852.1, XM_006524789.2 [Q2Q5T5-1] XP_006524853.1, XM_006524790.1 [Q2Q5T5-1] |
Genome annotation databases
Ensembli | ENSMUST00000113529; ENSMUSP00000109157; ENSMUSG00000079471 [Q2Q5T5-1] ENSMUST00000169137; ENSMUSP00000126690; ENSMUSG00000079471 [Q2Q5T5-2] ENSMUST00000178858; ENSMUSP00000137630; ENSMUSG00000079471 [Q2Q5T5-1] ENSMUST00000208801; ENSMUSP00000146823; ENSMUSG00000079471 [Q2Q5T5-1] |
GeneIDi | 653016 |
KEGGi | mmu:653016 |
UCSCi | uc008crg.2, mouse [Q2Q5T5-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ190000 mRNA Translation: ABA86951.1 AC163677 Genomic DNA No translation available. |
CCDSi | CCDS50119.1 [Q2Q5T5-1] CCDS50120.1 [Q2Q5T5-2] |
RefSeqi | NP_001170939.1, NM_001177468.1 [Q2Q5T5-1] NP_001170940.1, NM_001177469.1 [Q2Q5T5-1] NP_001170941.1, NM_001177470.1 [Q2Q5T5-2] XP_006524852.1, XM_006524789.2 [Q2Q5T5-1] XP_006524853.1, XM_006524790.1 [Q2Q5T5-1] |
3D structure databases
SMRi | Q2Q5T5 |
ModBasei | Search... |
Protein-protein interaction databases
STRINGi | 10090.ENSMUSP00000126690 |
Proteomic databases
PRIDEi | Q2Q5T5 |
Protocols and materials databases
Antibodypediai | 78826, 5 antibodies |
Genome annotation databases
Ensembli | ENSMUST00000113529; ENSMUSP00000109157; ENSMUSG00000079471 [Q2Q5T5-1] ENSMUST00000169137; ENSMUSP00000126690; ENSMUSG00000079471 [Q2Q5T5-2] ENSMUST00000178858; ENSMUSP00000137630; ENSMUSG00000079471 [Q2Q5T5-1] ENSMUST00000208801; ENSMUSP00000146823; ENSMUSG00000079471 [Q2Q5T5-1] |
GeneIDi | 653016 |
KEGGi | mmu:653016 |
UCSCi | uc008crg.2, mouse [Q2Q5T5-1] |
Organism-specific databases
CTDi | 101929726 |
MGIi | MGI:3649059, Mymx |
Phylogenomic databases
eggNOGi | ENOG502T3SF, Eukaryota |
GeneTreei | ENSGT00490000044373 |
HOGENOMi | CLU_2460615_0_0_1 |
OrthoDBi | 1636462at2759 |
PhylomeDBi | Q2Q5T5 |
Miscellaneous databases
BioGRID-ORCSi | 653016, 3 hits in 17 CRISPR screens |
PROi | PR:Q2Q5T5 |
RNActi | Q2Q5T5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000079471, Expressed in internal carotid artery and 160 other tissues |
ExpressionAtlasi | Q2Q5T5, baseline and differential |
Genevisiblei | E9PXI1, MM |
Family and domain databases
InterProi | View protein in InterPro IPR039014, Myomixer |
PANTHERi | PTHR41686, PTHR41686, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MYMX_MOUSE | |
Accessioni | Q2Q5T5Primary (citable) accession number: Q2Q5T5 Secondary accession number(s): E9PXI1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 27, 2017 |
Last sequence update: | January 24, 2006 | |
Last modified: | December 2, 2020 | |
This is version 99 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families