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Aliases for MYO1E Gene

Aliases for MYO1E Gene

  • Myosin IE 2 3
  • MYO1C 3 4 6
  • Unconventional Myosin 1E 3 4
  • Myosin-Ic 3 4
  • FSGS6 3 6
  • Unconventional Myosin-Ie 3
  • MYO1E Variant Protein 3
  • Myosin-IC 2
  • HuncM-IC 3

External Ids for MYO1E Gene

Previous GeneCards Identifiers for MYO1E Gene

  • GC15M054985
  • GC15M052475
  • GC15M057007
  • GC15M057144
  • GC15M057215
  • GC15M059428
  • GC15M036250

Summaries for MYO1E Gene

Entrez Gene Summary for MYO1E Gene

  • 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]

GeneCards Summary for MYO1E Gene

MYO1E (Myosin IE) is a Protein Coding gene. Diseases associated with MYO1E include glomerulosclerosis, focal segmental, 6 and nephrotic syndrome, idiopathic, steroid-resistant. Among its related pathways are RhoGDI Pathway and ERK Signaling. GO annotations related to this gene include calmodulin binding and phosphatidylinositol binding. An important paralog of this gene is MYO1D.

UniProtKB/Swiss-Prot for MYO1E Gene

  • 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.

Gene Wiki entry for MYO1E Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO1E Gene

Genomics for MYO1E Gene

Regulatory Elements for MYO1E Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MYO1E Gene

Start:
59,132,434 bp from pter
End:
59,372,900 bp from pter
Size:
240,467 bases
Orientation:
Minus strand

Genomic View for MYO1E Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYO1E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO1E Gene

Proteins for MYO1E Gene

  • Protein details for MYO1E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12965-MYO1E_HUMAN
    Recommended name:
    Unconventional myosin-Ie
    Protein Accession:
    Q12965
    Secondary Accessions:
    • Q14778

    Protein attributes for MYO1E Gene

    Size:
    1108 amino acids
    Molecular mass:
    127062 Da
    Quaternary structure:
    • Interacts with CALM and F-actin (By similarity). Interacts (via SH3 domain) with SYNJ1, DNM1 and DNM2. Interacts with ARL14EP.

neXtProt entry for MYO1E Gene

Proteomics data for MYO1E Gene at MOPED

Post-translational modifications for MYO1E Gene

  • Ubiquitination at Lys160 and Lys196
  • Modification sites at PhosphoSitePlus

Other Protein References for MYO1E Gene

Antibody Products

No data available for DME Specific Peptides for MYO1E Gene

Domains for MYO1E Gene

Gene Families for MYO1E Gene

HGNC:
  • MYOI :Myosins / Myosin superfamily : Class I

Suggested Antigen Peptide Sequences for MYO1E Gene

Graphical View of Domain Structure for InterPro Entry

Q12965

UniProtKB/Swiss-Prot:

MYO1E_HUMAN :
  • Q12965
Domain:
  • Contains 1 IQ domain.
  • Contains 1 myosin motor domain.
  • Contains 1 myosin tail domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO1E: view

Function for MYO1E Gene

Molecular function for MYO1E Gene

GENATLAS Biochemistry:
myosin 1E,unconventional,127kDa
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for MYO1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity TAS 7932763
GO:0003774 motor activity TAS 7932763
GO:0005515 protein binding IPI 17257598
GO:0005516 calmodulin binding IDA 11940582
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MYO1E: view
genes like me logo Genes that share phenotypes with MYO1E: view

Animal Models for MYO1E Gene

MGI Knock Outs for MYO1E:

miRNA for MYO1E Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYO1E

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MYO1E Gene

Localization for MYO1E Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO1E Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasmic vesicle. Cytoplasmic vesicle, clathrin-coated vesicle. Cell junction. 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYO1E Gene COMPARTMENTS Subcellular localization image for MYO1E gene
Compartment Confidence
cytoskeleton 5
cytosol 3
plasma membrane 2
extracellular 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MYO1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005856 cytoskeleton IDA 17257598
GO:0005911 cell-cell junction ISS --
GO:0005912 adherens junction ISS --
GO:0015629 actin cytoskeleton TAS 7932763
genes like me logo Genes that share ontologies with MYO1E: view

Pathways for MYO1E Gene

genes like me logo Genes that share pathways with MYO1E: view

Gene Ontology (GO) - Biological Process for MYO1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001822 kidney development --
GO:0003094 glomerular filtration ISS --
GO:0006200 obsolete ATP catabolic process --
genes like me logo Genes that share ontologies with MYO1E: view

Transcripts for MYO1E Gene

Unigene Clusters for MYO1E Gene

Myosin IE:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYO1E

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYO1E Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^
SP1:
SP2:
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9: - - -
SP10: -
SP11:
SP12: - -

ExUns: 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b · 26c ^ 27a · 27b ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for MYO1E Gene

GeneLoc Exon Structure for
MYO1E
ECgene alternative splicing isoforms for
MYO1E

Expression for MYO1E Gene

mRNA expression in normal human tissues for MYO1E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for MYO1E Gene

This gene is overexpressed in Nasal epithelium (19.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MYO1E Gene

SOURCE GeneReport for Unigene cluster for MYO1E Gene Hs.654506

mRNA Expression by UniProt/SwissProt for MYO1E Gene

Q12965-MYO1E_HUMAN
Tissue specificity: Expressed in the immune system. In the kidney, predominantly expressed in the glomerulus, including podocytes.
genes like me logo Genes that share expressions with MYO1E: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Expression partners for MYO1E Gene

Orthologs for MYO1E Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYO1E Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYO1E 35
  • 91.03 (n)
  • 95.13 (a)
MYO1E 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYO1E 35
  • 92.63 (n)
  • 98.19 (a)
MYO1E 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myo1e 35
  • 88.83 (n)
  • 96.21 (a)
Myo1e 16
Myo1e 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYO1E 35
  • 99.58 (n)
  • 99.64 (a)
MYO1E 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myo1e 35
  • 88.62 (n)
  • 95.75 (a)
oppossum
(Monodelphis domestica)
Mammalia MYO1E 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 43 (a)
ManyToMany
-- 36
  • 58 (a)
ManyToMany
chicken
(Gallus gallus)
Aves MYO1E 35
  • 79.98 (n)
  • 91.24 (a)
MYO1E 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYO1E 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo1e.2 35
  • 70.44 (n)
  • 76.8 (a)
African clawed frog
(Xenopus laevis)
Amphibia myo1e-prov 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
myo1ea 35
  • 73.8 (n)
  • 82.5 (a)
myo1ea 36
  • 81 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.876 35
fruit fly
(Drosophila melanogaster)
Insecta Myo31DF 37
  • 41 (a)
Myo61F 37
  • 45 (a)
CG15831 36
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea hum-1 37
  • 61 (a)
hum-5 37
  • 42 (a)
hum-1 35
  • 58.15 (n)
  • 59.27 (a)
hum-1 36
  • 57 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO3 36
  • 33 (a)
OneToMany
Species with no ortholog for MYO1E:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYO1E Gene

ENSEMBL:
Gene Tree for MYO1E (if available)
TreeFam:
Gene Tree for MYO1E (if available)

Paralogs for MYO1E Gene

Paralogs for MYO1E Gene

Pseudogenes.org Pseudogenes for MYO1E Gene

genes like me logo Genes that share paralogs with MYO1E: view

Variants for MYO1E Gene

Sequence variations from dbSNP and Humsavar for MYO1E Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs4218 -- 59,136,459(+) ACTGA(C/G)CTAGA utr-variant-3-prime
rs13498 -- 59,136,615(+) TATAT(A/G)TACAG utr-variant-3-prime
rs726554 -- 59,289,881(+) TTTTG(C/G)ATTTC intron-variant
rs747721 -- 59,306,182(+) GCAAT(A/G)TGTTA intron-variant
rs747722 -- 59,307,023(-) ATCCC(A/G)TTCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYO1E Gene

Variant ID Type Subtype PubMed ID
nsv7266 OTHER Inversion 18451855
nsv904254 CNV Gain 21882294
nsv527307 CNV Gain 19592680
nsv833025 CNV Gain 17160897
esv1009383 CNV Loss 20482838
nsv833027 CNV Gain+Loss 17160897
nsv904272 CNV Loss 21882294
nsv904273 CNV Loss 21882294
esv2660338 CNV Deletion 23128226
esv8718 CNV Gain 19470904
nsv457175 CNV Loss 19166990
esv2659534 CNV Deletion 23128226
nsv471246 CNV Loss 18288195
nsv904274 CNV Loss 21882294
dgv2391n71 CNV Gain 21882294

Relevant External Links for MYO1E Gene

HapMap Linkage Disequilibrium report
MYO1E
Human Gene Mutation Database (HGMD)
MYO1E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO1E Gene

Disorders for MYO1E Gene

(1) OMIM Diseases for MYO1E Gene (601479)

UniProtKB/Swiss-Prot

MYO1E_HUMAN
  • 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:0000269 PubMed:21697813, ECO:0000269 PubMed:21756023}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for MYO1E Gene

Relevant External Links for MYO1E

Genetic Association Database (GAD)
MYO1E
Human Genome Epidemiology (HuGE) Navigator
MYO1E
genes like me logo Genes that share disorders with MYO1E: view

No data available for Novoseek inferred disease relationships and Genatlas for MYO1E Gene

Publications for MYO1E Gene

  1. Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome. (PMID: 21697813) Sanna-Cherchi S. … Gharavi A.G. (Kidney Int. 2011) 3 4
  2. MYO1E mutations and childhood familial focal segmental glomerulosclerosis. (PMID: 21756023) Mele C. … Noris M. (N. Engl. J. Med. 2011) 3 4
  3. Cloning and mRNA expression of human unconventional myosin-IC. A homologue of amoeboid myosins-I with a single IQ motif and an SH3 domain. (PMID: 7932763) Bement W.M. … Mooseker M.S. (J. Mol. Biol. 1994) 3 4
  4. Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types. (PMID: 8022818) Bement W.M. … Mooseker M.S. (Proc. Natl. Acad. Sci. U.S.A. 1994) 3 4
  5. Mapping of unconventional myosins in mouse and human. (PMID: 8884266) Hasson T. … Jenkins N.A. (Genomics 1996) 2 3

Products for MYO1E Gene

Sources for MYO1E Gene

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