Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

MYO1E

contributors: mct - updated : 26-08-2015

HGNC name	myosin IE
HGNC id	7599

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FSGS6 glomerulosclerosis, focal segmental, 6
Location	15q22.2      Physical location : 59.428.563 - 59.665.071
Synonym name	myosin-Ic
Synonym symbol(s)	MYO1C, HuncM-IC

DNA

TYPE	functioning gene
STRUCTURE	236.51 kb     28 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004998 28 - 4729 - 1108 - 2007 17257598

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       moderately Lymphoid/Immune lymph node       highly   tonsils       moderately Reproductive female system uterus cervix   highly Respiratory respiratory tract larynx     moderately Urinary kidney nephron renal capsule glomerulus highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Homo sapiens Muscular       moderately

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune B cell Homo sapiens Urinary podocyte Homo sapiens

cell lineage	in B-cell lines (
cell lines
fluid/secretion	predominantly in lymph

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N terminal motor domain containing ATP and actin-binding sites
	a neck containing one IQ calmodulin or calmodulin-like light chain binding domain
	an SH3 domain of MYO1E tail interacting with TJP1, a component of the slit diaphragm complex and tight junctions, suggesting that MYO1E represents a component of the slit diaphragm complex and may contribute to regulating junctional integrity in kidney podocytes
	two Tail Homology domains, TH2 domain providing the key signal for localization to invadosomes, while TH1 domain interactions facilitate MYO1E targeting to the plasma membrane-proximal locations within the rosettes
	C-terminal tail domain includes a basic region required for localization to clathrin-coated vesicles and contains a putative pleckstrin-homology (PH) domain that has been shown to play a role in phospholipid binding in other myosin-I proteins

mono polymer

complex

HOMOLOGY

interspecies	homolog to rattus Myo1e (95.8 pc)
	homolog to murine Myo1e (96.2 pc)

Homologene

FAMILY

subclass-1 member of the myosin-I family

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm,cytoskeleton,microfilament
text	co-localizes with clathrin- and dynamin-containing puncta at the plasma membrane and this co-localization requires an intact SH3 domain

basic FUNCTION	acting as a microfilament motor
	involved in rapid sliding
	may contribute to receptor-mediated endocytosis
	potentially playing an important role in cortical granule exocytosis
	may be playing an important role in podocyte function and normal glomerular filtration
	anchored by lipid interactions, could concentrate MYO1E-binding proteins, such as dynamin and synaptojanin-1, at actin-rich regions of the membrane
	coordinates actin assembly and cargo trafficking during clathrin-mediated endocytosis
	actin-dependent molecular motor that plays an important role in kidney functions
	its expression in podocytes is necessary for normal glomerular filtration and podocyte defects are likely to represent the primary pathway leading to glomerular disease associated with MYO1E mutations
	actin-based motor protein that has been implicated in cell adhesion and migration
	may then act as a scaffold, linking the plasma membrane with the actin cytoskeleton and helping direct new invadosome formation to the periphery of the rosette
	non-redundant function of the motor protein MYO1E in the regulation of TLR4-controlled, cytoskeleton-associated functional properties of macrophages and dendritic cells, and in induction of a full MHC-II-restricted adaptive immune response

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

myosin complex

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	acting
	calmodulin
	interact with proteins involved in endocytosis and actin dynamics, including dynamin, synaptojanin, and LRRC16A, presumably via MYO1E SH3 domain
	interaction with anionic phospholipids
	binds lipids through nonspecific electrostatic interactions rather than a stereospecific protein-phosphoinositide interaction

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FSGS6

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function promotes podocyte injury and results in the loss of the integrity of the glomerular filtration barrier

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	renal tissue from Myo1e-null mice demonstrates changes characteristic of glomerular disease, including a thickened and disorganized glomerular basement membrane and flattened podocyte foot processes