MYOT
entrez
9499
canonical
uniprot
Q9UBF9
canonical
ensembl
ENSG00000120729
resolver
ensp
ENSP00000239926
resolver
ensp
ENSP00000391185
resolver
ensp
ENSP00000426281
resolver
enst
ENST00000515645
resolver
genesymbol
MYOT
resolver
genesymbol_syn
TTID
resolver
hgnc
HGNC:12399
resolver
uniprot
A0A0C4DFM5
resolver
uniprot
A0A4R6
resolver
uniprot
B4DT68
resolver
uniprot
B4DT79
resolver
uniprot
F6RVD9
resolver
uniprot_entry
B4DT68_HUMAN
resolver
uniprot_entry
F6RVD9_HUMAN
resolver
uniprot_entry
MYOTI_HUMAN
resolver
uniprot_sec
A0A0C4DFM5
resolver
uniprot_sec
A0A4R6
resolver
uniprot_sec
B4DT79
resolver
amino_acid_sequence
MFNYERPKHFIQSQNPCGSRLQPPGPETSSFSSQTKQSSIIIQPRQCTEQRFSASSTLSSHITMSSSAFPASPQQHAGSNPGQRVTTTYNQSPASFLSSILPSQPDYNSSKIPSAMDSNYQQSSAGQPINAKPSQTANAKPIPRTPDHEIQGSKEALIQDLERKLKCKDTLLHNGNQRLTYEEKMARRLLGPQNAAAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRSRSTSRGDVNDQDAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSGLPAPDVSWYLNGRTVQSDDLHKMIVSEKGLHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKPQSKKVLEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGWYTVSAVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPEGEFQRLAAQSGLYESEEL
uniprot
proteins
disease_involvement
DISEASE: Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits. {ECO:0000269|PubMed:10958653, ECO:0000269|PubMed:12428213, ECO:0000269|PubMed:15111675, ECO:0000269|PubMed:16380616, ECO:0000269|PubMed:25208129}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells. {ECO:0000269|PubMed:12499399}.
uniprot
proteins
mass_dalton
55395
uniprot
proteins
protein_family
Myotilin/palladin family
uniprot
proteins
pubmed
10369880
uniprot
proteins
pubmed
10486214
uniprot
proteins
pubmed
10958653
uniprot
proteins
pubmed
11038172
uniprot
proteins
pubmed
12428213
uniprot
proteins
pubmed
12499399
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15111675
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16076904
uniprot
proteins
pubmed
16380616
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19418025
uniprot
proteins
pubmed
25208129
uniprot
proteins
sequence_length
498
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000269|PubMed:10369880}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10369880}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:16076904}. Note=Sarcomeric, also localized to the sarcolemma (PubMed:10369880). Colocalizes with MYOZ1 at the Z-lines in skeletal muscle (PubMed:16076904). {ECO:0000269|PubMed:10369880, ECO:0000269|PubMed:16076904}.
uniprot
proteins