MYO1E - myosin IE Gene

Also Known as FSGS6; MYO1C; HuncM-IC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4643

About MYO1E

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:59,132,434-59,372,871 (from NCBI)

This gene has 10 transcripts (splice variants), 210 orthologues, 43 paralogues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 17.7), gall bladder (RPKM 16.8) and 24 other tissues.

Summary

This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional Myosin protein family. The unconventional Myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as Myosin IC in the literature but is distinct from the Myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]

MYO1E Products (1)

mRNA	Protein	Name
NM_004998.4	NP_004989.2	unconventional myosin-Ie

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	11940582	GOA
enables actin filament binding	IDA IDA: Inferred from direct assay	11940582	GOA
enables calmodulin binding	IDA IDA: Inferred from direct assay	11940582	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	20860408	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17257598	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in endocytosis	IMP IMP: Inferred from mutant phenotype	17257598	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with clathrin-coated endocytic vesicle	IDA IDA: Inferred from direct assay	17257598	GOA
located in cytoskeleton	IDA IDA: Inferred from direct assay	17257598	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYO1E Protein Structure

Myosin_head

Myosin_TH1

SH3_1

0
200
400
600
800
1000
1108 a.a.

Protein Preferred Names	Protein Names
unconventional myosin-Ie	MYO1E variant protein

MYO1E Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MYO1E	Q12965	ARL14EP	Homo sapiens	Q8N8R7	Anti Bait CoIP	21458045
Cross	MYO1E	Q12965	Synj1	Rattus norvegicus	Q62910	Anti Bait CoIP	17257598

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Focal Segmental Glomerulosclerosis 6	FSGS6 Glomerulosclerosis, Focal Segmental, 6 Glomerulosclerosis, Segmental, Focal, Type 6
Genetic Steroid-Resistant Nephrotic Syndrome	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Genetic Srns Hereditary Steroid-Resistant Nephrotic Syndrome Familial Idiopathic Nephrotic Syndrome Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive Srn1
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Chromosome 17p13.3, Centromeric, Duplication Syndrome	Chromosome 17p13.3 Duplication Syndrome 17p13.3 Duplication Syndrome 17p13.3 Microduplication Syndrome Trisomy 17p13.3 Chromosome 17p13.3 Centromeric Duplication Syndrome Dup(17)(P13.3)
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Autosomal Dominant Alport Syndrome	Alport Syndrome, Autosomal Dominant Alport Syndrome Dominant Type Renal Failure And Sensorineural Hearing Loss Alport Syndrome, Dominant Type
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08941	MYO1E Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21659	Myo1c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MYO1E	MGD	MGI:106621
Bos taurus	MYO1E	VGNC	VGNC:31820
Rattus norvegicus	MYO1E	RGD	RGD:3144
Felis catus	MYO1E	VGNC	VGNC:68392
Canis familiaris	MYO1E	VGNC	VGNC:43564
Macaca mulatta	MYO1E	VGNC	VGNC:75114
Others	MYO1E	NCBI