Homo sapiens Protein: MYO1E
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
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.
Experimentally validated
Total 33 [view]
Protein-Protein 33 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000146 microfilament motor activity
GO:0003774 motor activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0035091 phosphatidylinositol binding
GO:0042623 ATPase activity, coupled
GO:0051015 actin filament binding
Biological Process
GO:0001570 vasculogenesis
GO:0001701 in utero embryonic development
GO:0001822 kidney development
GO:0003094 glomerular filtration
GO:0006200 ATP catabolic process
GO:0006807 nitrogen compound metabolic process
GO:0006897 endocytosis
GO:0030048 actin filament-based movement
GO:0030097 hemopoiesis
GO:0032836 glomerular basement membrane development
GO:0035166 post-embryonic hemopoiesis
GO:0048008 platelet-derived growth factor receptor signaling pathway
GO:0072015 glomerular visceral epithelial cell development
Cellular Component
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005911 cell-cell junction
GO:0005912 adherens junction
GO:0015629 actin cytoskeleton
GO:0016459 myosin complex
GO:0045334 clathrin-coated endocytic vesicle
GO:0070062 extracellular vesicular exosome
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
PFAM PF00612
PF00018
PF14604
PF00063
PF06017
PF07653
PRINTS PR00452
PR00193
PIRSF
SMART SM00015
SM00326
SM00242
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