MYO1E
entrez
4643
canonical
uniprot
Q12965
canonical
ensembl
ENSG00000157483
resolver
ensp
ENSP00000288235
resolver
enst
ENST00000288235
resolver
genesymbol
MYO1E
resolver
genesymbol_syn
MYO1C
resolver
hgnc
HGNC:7599
resolver
uniprot
Q14778
resolver
uniprot
Q4KMR3
resolver
uniprot_entry
MYO1E_HUMAN
resolver
uniprot_entry
Q4KMR3_HUMAN
resolver
uniprot_sec
Q14778
resolver
amino_acid_sequence
MGSKGVYQYHWQSHNVKHSGVDDMVLLSKITENSIVENLKKRYMDDYIFTYIGSVLISVNPFKQMPYFGEKEIEMYQGAAQYENPPHIYALADNMYRNMIIDRENQCVIISGESGAGKTVAAKYIMSYISRVSGGGTKVQHVKDIILQSNPLLEAFGNAKTVRNNNSSRFGKYFEIQFSPGGEPDGGKISNFLLEKSRVVMRNPGERSFHIFYQLIEGASAEQKHSLGITSMDYYYYLSLSGSYKVDDIDDRREFQETLHAMNVIGIFAEEQTLVLQIVAGILHLGNISFKEVGNYAAVESEEFLAFPAYLLGINQDRLKEKLTSRQMDSKWGGKSESIHVTLNVEQACYTRDALAKALHARVFDFLVDSINKAMEKDHEEYNIGVLDIYGFEIFQKNGFEQFCINFVNEKLQQIFIELTLKAEQEEYVQEGIRWTPIEYFNNKIVCDLIENKVNPPGIMSILDDVCATMHAVGEGADQTLLQKLQMQIGSHEHFNSWNQGFIIHHYAGKVSYDMDGFCERNRDVLFMDLIELMQSSELPFIKSLFPENLQADKKGRPTTAGSKIKKQANDLVSTLMKCTPHYIRCIKPNETKKPRDWEESRVKHQVEYLGLKENIRVRRAGYAYRRIFQKFLQRYAILTKATWPSWQGEEKQGVLHLLQSVNMDSDQFQLGRSKVFIKAPESLFLLEEMRERKYDGYARVIQKSWRKFVARKKYVQMREEASDLLLNKKERRRNSINRNFIGDYIGMEEHPELQQFVGKREKIDFADTVTKYDRRFKGVKRDLLLTPKCLYLIGREKVKQGPDKGLVKEVLKRKIEIERILSVSLSTMQDDIFILHEQEYDSLLESVFKTEFLSLLAKRYEEKTQKQLPLKFSNTLELKLKKENWGPWSAGGSRQVQFHQGFGDLAVLKPSNKVLQVSIGPGLPKNSRPTRRNTTQNTGYSSGTQNANYPVRAAPPPPGYHQNGVIRNQYVPYPHAPGSQRSNQKSLYTSMARPPLPRQQSTSSDRVSQTPESLDFLKVPDQGAAGVRRQTTSRPPPAGGRPKPQPKPKPQVPQCKALYAYDAQDTDELSFNANDIIDIIKEDPSGWWTGRLRGKQGLFPNNYVTKI
uniprot
proteins
disease_involvement
DISEASE: Focal segmental glomerulosclerosis 6 (FSGS6) [MIM:614131]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. {ECO:0000269|PubMed:21697813, ECO:0000269|PubMed:21756023, ECO:0000269|PubMed:23595123, ECO:0000269|PubMed:25349199, ECO:0000269|PubMed:36316095}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Actin-based motor molecule with ATPase activity (PubMed:11940582, PubMed:36316095). Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. Binds to membranes containing anionic phospholipids via its tail domain. Involved in clathrin-mediated endocytosis and intracellular movement of clathrin-coated vesicles (PubMed:36316095). Required for normal morphology of the glomerular basement membrane, normal development of foot processes by kidney podocytes and normal kidney function. In dendritic cells, may control the movement of class II-containing cytoplasmic vesicles along the actin cytoskeleton by connecting them with the actin network via ARL14EP and ARL14. {ECO:0000269|PubMed:11940582, ECO:0000269|PubMed:17257598, ECO:0000269|PubMed:20860408, ECO:0000269|PubMed:36316095}.
uniprot
proteins
mass_dalton
127062
uniprot
proteins
protein_family
Myosin family
uniprot
proteins
protein_family
TRAFAC class myosin-kinesin ATPase superfamily
uniprot
proteins
pubmed
11940582
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17257598
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19846667
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20860408
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21458045
uniprot
proteins
pubmed
21697813
uniprot
proteins
pubmed
21756023
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23595123
uniprot
proteins
pubmed
25349199
uniprot
proteins
pubmed
28837161
uniprot
proteins
pubmed
36316095
uniprot
proteins
pubmed
7932763
uniprot
proteins
pubmed
7972138
uniprot
proteins
pubmed
8022818
uniprot
proteins
sequence_length
1108
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:E9Q634}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:E9Q634}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:E9Q634}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:36316095}. Cell junction {ECO:0000269|PubMed:36316095}. Note=Colocalizes with F-actin (By similarity). In cultured podocytes, it localizes close to and is associated with the cytoplasmic membrane, with enrichment at the lamellipodia tips. Colocalizes with cytoplasmic vesicles, including endocytic clathrin-coated vesicles. Colocalizes with dynamin at cytoplasmic vesicles. {ECO:0000250}.
uniprot
proteins