KY
entrez
339855
canonical
uniprot
Q8NBH2
canonical
ensembl
ENSG00000174611
resolver
ensp
ENSP00000397598
resolver
ensp
ENSP00000421297
resolver
genesymbol
KY
resolver
hgnc
HGNC:26576
resolver
uniprot
B7Z1S4
resolver
uniprot
Q6ZT15
resolver
uniprot_entry
KY_HUMAN
resolver
uniprot_sec
B7Z1S4
resolver
uniprot_sec
Q6ZT15
resolver
amino_acid_sequence
MELKKDINAVSIDMLLIVHSEKRRAAQGTLSDQQANPSSLLQRGGGFQGVGNGVRRWQKLEGNDFHENLVEKQHPQQPQVITSYNSQGTQLTVEVHPRDAMPQLLKKFSLAKRLQGDKNGNTRPRQPGGKDAHAYPWDRSSLKSMSLDLQQFEKLDIYASQVTAKSGLDELVSDLLQEAHTDLERVRAIWIWICHHIEYDIAAAQEKDRQAFKPTDILRTQKTNCDGYAGLFERMCRLAGVQCMTVPGYSKGFGYQTGQSFSGEFDHAWNAVYLEGRWHLVDSTWGSGLVDTITSKFTFLYNEFYFLTHPALFIEDHFPDNKNWQLLKPPQSLRQFENNMYHKSEFYNKGMLSAHPETSMIRTVNGKATVTIESCAPTLFMFMLNGKQEHGLLSLRKNGMKLEVYPPTMGTHKLQIFAKGNSDIYSSVLEYTLKCNYVDMGVQLPAELHQPVGPSWFSEQMGIMKPSHPDPIIHTSDGRCSISFSVEEGINVLASLHGDDGPITEETQRRYIFQLHREKQTELKVQLPHAGKFALKIFVKKRQEPGNYIFVFNYLVCCANTKVNWPMFPESFGNWGQDNELLEPLSGVLPANRNVPFKLKLHGIAKVLVKGQDTWPLTLNHEGYWEGSCSTAGCQEVYVMVLENANHNFYSYILKYKVNAQ
uniprot
proteins
disease_involvement
DISEASE: Myopathy, myofibrillar, 7 (MFM7) [MIM:617114]: 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. MFM7 is an autosomal recessive form, clinically characterized by early childhood onset of slowly progressive muscle weakness and mild atrophy primarily affecting the lower limbs, associated with joint contractures. {ECO:0000269|PubMed:27484770, ECO:0000269|PubMed:27485408}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.-.-
uniprot
proteins
function
FUNCTION: Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
75153
uniprot
proteins
protein_family
Transglutaminase-like superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15385448
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
27484770
uniprot
proteins
pubmed
27485408
uniprot
proteins
sequence_length
661
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250}.
uniprot
proteins