Homo sapiens Protein: MYO1E | |||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||
InnateDB Protein | IDBP-14487.6 | ||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||
Gene Symbol | MYO1E | ||||||||||||||||||||||||||
Protein Name | myosin IE | ||||||||||||||||||||||||||
Synonyms | FSGS6; HuncM-IC; MYO1C; | ||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||
Ensembl Protein | ENSP00000288235 | ||||||||||||||||||||||||||
InnateDB Gene | IDBG-14485 (MYO1E) | ||||||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||||||
Function | Myosins are actin-based motor molecules with ATPase activity. 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. 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:0000269PubMed:11940582, ECO:0000269PubMed:17257598, ECO:0000269PubMed:20860408}. | ||||||||||||||||||||||||||
Subcellular Localization | Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasmic vesicle. Cytoplasmic vesicle, clathrin-coated vesicle. Cell junction {ECO:0000250}. 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}. | ||||||||||||||||||||||||||
Disease Associations | 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:0000269PubMed:21697813, ECO:0000269PubMed:21756023}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||
Tissue Specificity | Expressed in the immune system. In the kidney, predominantly expressed in the glomerulus, including podocytes. {ECO:0000269PubMed:21458045, ECO:0000269PubMed:21756023}. | ||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||
InterPro |
IPR000048
IQ motif, EF-hand binding site IPR001452 SH3 domain IPR001609 Myosin head, motor domain IPR010926 Myosin tail 2 IPR011511 Variant SH3 domain IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00612
PF00018 PF14604 PF00063 PF06017 PF07653 |
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PRINTS |
PR00452
PR00193 |
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PIRSF | |||||||||||||||||||||||||||
SMART |
SM00015
SM00326 SM00242 |
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TIGRFAMs | |||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||
SwissProt | Q12965 | ||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q12965 | ||||||||||||||||||||||||||
TrEMBL | Q4KMR3 | ||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||
Entrez Gene | 4643 | ||||||||||||||||||||||||||
UniGene | Hs.654506 | ||||||||||||||||||||||||||
RefSeq | NP_004989 | ||||||||||||||||||||||||||
HUGO | HGNC:7599 | ||||||||||||||||||||||||||
OMIM | 601479 | ||||||||||||||||||||||||||
CCDS | CCDS32254 | ||||||||||||||||||||||||||
HPRD | 03281 | ||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||
EMBL | AB290177 AC092756 AK291688 BC098392 CH471082 L29139 U14391 | ||||||||||||||||||||||||||
GenPept | AAA20902 AAA62667 AAH98392 BAF84377 BAG06731 EAW77564 | ||||||||||||||||||||||||||