MYMK
entrez
389827
canonical
uniprot
A6NI61
canonical
ensembl
ENSG00000187616
resolver
ensp
ENSP00000419712
resolver
enst
ENST00000339996
resolver
genesymbol
MYMK
resolver
genesymbol_syn
TMEM226
resolver
genesymbol_syn
TMEM8C
resolver
hgnc
HGNC:33778
resolver
uniprot_entry
MYMK_HUMAN
resolver
amino_acid_sequence
MGTLVAKLLLPTLSSLAFLPTVSIAAKRRFHMEAMVYLFTLFFVALHHACNGPGLSVLCFMRHDILEYFSVYGTALSMWVSLMALADFDEPKRSTFVMFGVLTIAVRIYHDRWGYGVYSGPIGTAILIIAAKWLQKMKEKKGLYPDKSVYTQQIGPGLCFGALALMLRFFFEDWDYTYVHSFYHCALAMSFVLLLPKVNKKAGSPGTPAKLDCSTLCCACV
uniprot
proteins
disease_involvement
DISEASE: Carey-Fineman-Ziter syndrome 1 (CFZS1) [MIM:254940]: An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high-arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive. {ECO:0000269|PubMed:28681861, ECO:0000269|PubMed:30065953}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:28681861). 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). {ECO:0000250|UniProtKB:Q9D1N4, ECO:0000269|PubMed:28681861}.
uniprot
proteins
mass_dalton
24699
uniprot
proteins
post_translational_modification
PTM: Palmitoylated at the C-terminus; palmitoylation promotes localization to the Golgi apparatus. {ECO:0000250|UniProtKB:Q9D1N4}.
uniprot
proteins
protein_family
TMEM8 family
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
28681861
uniprot
proteins
pubmed
30065953
uniprot
proteins
sequence_length
221
uniprot
proteins
subcellular_location
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}.
uniprot
proteins
transmembrane_region
TRANSMEM 4..24; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 35..55; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 65..85; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 93..110; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 114..134; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 154..174; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 176..196; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins