MYL1
entrez
4632
canonical
uniprot
P05976
canonical
ensembl
ENSG00000168530
resolver
ensp
ENSP00000307280
resolver
ensp
ENSP00000343321
resolver
genesymbol
MYL1
resolver
hgnc
HGNC:7582
resolver
uniprot
B2R4N6
resolver
uniprot
B2R4T6
resolver
uniprot
P06741
resolver
uniprot
Q6IBD5
resolver
uniprot_entry
MYL1_HUMAN
resolver
uniprot_sec
B2R4N6
resolver
uniprot_sec
B2R4T6
resolver
uniprot_sec
P06741
resolver
uniprot_sec
Q6IBD5
resolver
amino_acid_sequence
MAPKKDVKKPVAAAAAAPAPAPAPAPAPAPAKPKEEKIDLSAIKIEFSKEQQDEFKEAFLLFDRTGDSKITLSQVGDVLRALGTNPTNAEVRKVLGNPSNEELNAKKIEFEQFLPMMQAISNNKDQATYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGEKMKEEEVEALMAGQEDSNGCINYEAFVKHIMSI
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 14 (CMYO14) [MIM:618414]: An autosomal recessive congenital myopathy characterized by decreased fetal movements, severe muscle weakness and respiratory failure. Additional features include delayed motor development, areflexia, facial weakness, normal eye movements, head lag, and mild contractures. Skeletal muscle biopsy shows variation in fiber size with atrophy of the fast-twitch type II fibers. {ECO:0000269|PubMed:30215711}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Non-regulatory myosin light chain required for proper formation and/or maintenance of myofibers, and thus appropriate muscle function. {ECO:0000269|PubMed:30215711}.
uniprot
proteins
mass_dalton
21145
uniprot
proteins
post_translational_modification
PTM: [Isoform MLC3]: Acetylated at position 2. {ECO:0000250}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
2458299
uniprot
proteins
pubmed
2777779
uniprot
proteins
pubmed
30215711
uniprot
proteins
pubmed
3601661
uniprot
proteins
sequence_length
194
uniprot
proteins