Protein: Protein myomaker (Myoblast fusion maker) (Transmembrane protein 226) (Transmembrane protein 8C) (A6NI61)
Organism: Homo sapiens (Human)
Function: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Actively participates in the membrane fusion reaction by mediating the mixing of cell membrane lipids (hemifusion) upstream of MYMX. Acts independently of MYMX (By similarity). 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 (By similarity). Also involved in skeletal muscle hypertrophy, probably by mediating the fusion of satellite cells with myofibers (By similarity).
Subcellular location: Cell membrane {ECO:0000250|UniProtKB:Q9D1N4}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9D1N4}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9D1N4}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9D1N4}. Note=Localizes on the plasma membrane of myoblasts, where it mediates myoblasts fusion. Also localizes in the Golgi apparatus and post-Golgi following palmitoylation; the role of Golgi localization is unclear. {ECO:0000250|UniProtKB:Q9D1N4}.
Sequence: MGTLVAKLLLPTLSSLAFLPTVSIAAKRRFHMEAMVYLFTLFFVALHHACNGPGLSVLCFMRHDILEYFSVYGTALSMWVSLMALADFDEPKRSTFVMFGVLTIAVRIYHDRWGYGVYSGPIGTAILIIAAKWLQKMKEKKGLYPDKSVYTQQIGPGLCFGALALMLRFFFEDWDYTYVHSFYHCALAMSFVLLLPKVNKKAGSPGTPAKLDCSTLCCACV
InterPro domains: - IPR021910: NGX6/PGAP6/MYMK (family) [5-205]
Interaction partners: - Protein myomixer
- Myogenin
- Myoblast determination protein 1
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0005515 (protein binding)
Biological Process (BP): GO:0008150 (biological process), GO:0065007 (biological regulation), GO:0048518 (positive regulation of biological process), GO:0050789 (regulation of biological process), GO:0032502 (developmental process), GO:0040007 (growth), GO:0009987 (cellular process), GO:0048869 (cellular developmental process), GO:0048589 (developmental growth), GO:0048856 (anatomical structure development), GO:0009653 (anatomical structure morphogenesis), GO:0140253 (cell-cell fusion), GO:0048584 (positive regulation of response to stimulus), GO:0051240 (positive regulation of multicellular organismal process), GO:0006949 (syncytium formation), GO:0048583 (regulation of response to stimulus), GO:0071840 (cellular component organization or biogenesis), GO:0051239 (regulation of multicellular organismal process), GO:0048646 (anatomical structure formation involved in morphogenesis), GO:0061061 (muscle structure development), GO:0000768 (syncytium formation by plasma membrane fusion), GO:0030154 (cell differentiation), GO:0044057 (regulation of system process), GO:0016043 (cellular component organization), GO:0014742 (positive regulation of muscle hypertrophy), GO:0042246 (tissue regeneration), GO:0043502 (regulation of muscle adaptation), GO:0031099 (regeneration), GO:0007520 (myoblast fusion), GO:0042692 (muscle cell differentiation), GO:0043403 (skeletal muscle tissue regeneration), GO:0010256 (endomembrane system organization), GO:0090257 (regulation of muscle system process), GO:0061024 (membrane organization), GO:0051146 (striated muscle cell differentiation), GO:0014743 (regulation of muscle hypertrophy), GO:0007009 (plasma membrane organization), GO:0061025 (membrane fusion), GO:0014902 (myotube differentiation), GO:0045026 (plasma membrane fusion)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0005622 (intracellular anatomical structure), GO:0043226 (organelle), GO:0016020 (membrane), GO:0071944 (cell periphery), GO:0005737 (cytoplasm), GO:0012505 (endomembrane system), GO:0031090 (organelle membrane), GO:0030141 (secretory granule), GO:0031410 (cytoplasmic vesicle), GO:0043229 (intracellular organelle), GO:0043227 (membrane-bounded organelle), GO:0005886 (plasma membrane), GO:0101002 (ficolin-1-rich granule), GO:0099503 (secretory vesicle), GO:0043231 (intracellular membrane-bounded organelle), GO:0098588 (bounding membrane of organelle), GO:0012506 (vesicle membrane), GO:0042581 (specific granule), GO:0030667 (secretory granule membrane), GO:0070820 (tertiary granule), GO:0031982 (vesicle), GO:0030659 (cytoplasmic vesicle membrane), GO:0097708 (intracellular vesicle), GO:0070821 (tertiary granule membrane), GO:0101003 (ficolin-1-rich granule membrane), GO:0035579 (specific granule membrane)