1. Gene
  2. MYO1E - myosin IE Gene

MYO1E - myosin IE Gene

Homo sapiens

Also known as FSGS6; MYO1C; HuncM-IC

Gene ID: 4643 | Gene type: protein coding

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 Reference 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 Reference Source
involved in endocytosis IMP
IMP: Inferred from mutant phenotype
17257598 GOA
Cellular Component GO Annotation Evidence Reference 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_head: Myosin head (motor domain) (21 - 679)

Myosin_TH1

Myosin_TH1: Unconventional myosin tail, actin- and lipid-binding (718 - 923)

SH3_1

SH3_1: SH3 domain (1057 - 1101)

  • 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 Reference
Intra
MYO1E Q12965 ARL14EP Homo sapiens Q8N8R7 21458045
Cross
MYO1E Q12965 Synj1 Rattus norvegicus Q62910 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

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