LMOD3
entrez
56203
canonical
uniprot
Q0VAK6
canonical
ensembl
ENSG00000163380
resolver
ensp
ENSP00000414670
resolver
ensp
ENSP00000417210
resolver
genesymbol
LMOD3
resolver
hgnc
HGNC:6649
resolver
uniprot
B4DT85
resolver
uniprot
Q0JTT2
resolver
uniprot
Q5JPG6
resolver
uniprot
Q8IUK4
resolver
uniprot
Q96LS4
resolver
uniprot_entry
LMOD3_HUMAN
resolver
uniprot_sec
B4DT85
resolver
uniprot_sec
Q0JTT2
resolver
uniprot_sec
Q5JPG6
resolver
uniprot_sec
Q8IUK4
resolver
uniprot_sec
Q96LS4
resolver
amino_acid_sequence
MSEHSRNSDQEELLDEEINEDEILANLSAEELKELQSEMEVMAPDPSLPVGMIQKDQTDKPPTGNFNHKSLVDYMYWEKASRRMLEEERVPVTFVKSEEKTQEEHEEIEKRNKNMAQYLKEKLNNEIVANKRESKGSSNIQETDEEDEEEEDDDDDDEGEDDGEESEETNREEEGKAKEQIRNCENNCQQVTDKAFKEQRDRPEAQEQSEKKISKLDPKKLALDTSFLKVSTRPSGNQTDLDGSLRRVRKNDPDMKELNLNNIENIPKEMLLDFVNAMKKNKHIKTFSLANVGADENVAFALANMLRENRSITTLNIESNFITGKGIVAIMRCLQFNETLTELRFHNQRHMLGHHAEMEIARLLKANNTLLKMGYHFELPGPRMVVTNLLTRNQDKQRQKRQEEQKQQQLKEQKKLIAMLENGLGLPPGMWELLGGPKPDSRMQEFFQPPPPRPPNPQNVPFSQRSEMMKKPSQAPKYRTDPDSFRVVKLKRIQRKSRMPEAREPPEKTNLKDVIKTLKPVPRNRPPPLVEITPRDQLLNDIRHSSVAYLKPVQLPKELA
uniprot
proteins
disease_involvement
DISEASE: Nemaline myopathy 10 (NEM10) [MIM:616165]: An autosomal recessive severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy. {ECO:0000269|PubMed:25250574}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574). {ECO:0000269|PubMed:25250574}.
uniprot
proteins
mass_dalton
64914
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated, leading to its degradation. Interaction with KLHL40 negatively regulates ubiquitination and degradation. {ECO:0000250|UniProtKB:E9QA62}.
uniprot
proteins
protein_family
Tropomodulin family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
25250574
uniprot
proteins
sequence_length
560
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25250574}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000269|PubMed:25250574}. Cytoplasm, myofibril, sarcomere, A band {ECO:0000250|UniProtKB:E9QA62}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:25250574}. Note=Highly expressed in nonstriated areas of developing myotubes, where it shows a granular cytoplasmic pattern. In sarcomeres, highly expressed in the M band region and, at lower levels, along actin thin filaments. Not detected in Z-disks. In sarcomeres, may be located near, but not at, actin thin filament pointed end. {ECO:0000269|PubMed:25250574}.
uniprot
proteins