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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MYO1E Gene

protein-coding   GIFtS: 64
GCID: GC15M059428

Myosin IE

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Myosin IE1 2     HuncM-IC2
MYO1C2 3 5     MYO1E Variant Protein2
myosin-IC1 2     Unconventional Myosin-Ie2
Unconventional Myosin 1E2 3     Myosin-Ic3
FSGS62     

External Ids:    HGNC: 75991   Entrez Gene: 46432   Ensembl: ENSG000001574837   OMIM: 6014795   UniProtKB: Q129653   

Export aliases for MYO1E gene to outside databases

Previous GC identifers: GC15M054985 GC15M052475 GC15M057007 GC15M057144 GC15M057215 GC15M036250


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 focal segmental glomerulosclerosis 6, and focal segmental glomerulosclerosis, and among its related super-pathways are Clathrin-dependent protein traffic and Antioxidant Action of Vitamin-C. GO annotations related to this gene include calmodulin binding and phosphatidylinositol binding. An important paralog of this gene is MYO1D.

UniProtKB/Swiss-Prot: MYO1E_HUMAN, Q12965
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 Wiki entry for MYO1E Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYO1E gene promoter:
         Bach1   NF-1   NF-1/L   AML1a   CUTL1   Nkx2-5   LCR-F1   GATA-1   AREB6   NRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYO1E promoter sequence
   Search SABiosciences Chromatin IP Primers for MYO1E

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYO1E


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21-q22   Ensembl cytogenetic band:  15q22.2   HGNC cytogenetic band: 15q21-q22

MYO1E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYO1E gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M059428:  view genomic region     (about GC identifiers)

Start:
59,427,113 bp from pter      End:
59,665,099 bp from pter
Size:
237,987 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MYO1E_HUMAN, Q12965 (See protein sequence)
Recommended Name: Unconventional myosin-Ie  
Size: 1108 amino acids; 127062 Da
Subunit: Interacts with CALM and F-actin (By similarity). Interacts (via SH3 domain) with SYNJ1, DNM1 and DNM2.
Interacts with ARL14EP
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasmic vesicle. Cytoplasmic vesicle,
clathrin-coated vesicle. Cell junction (By similarity). 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
Caution: Represents a unconventional myosin. This protein should not be confused with the conventional myosin-1
(MYH1)
Secondary accessions: Q14778

Explore the universe of human proteins at neXtProt for MYO1E: NX_Q12965

Explore proteomics data for MYO1E at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q12965

  • MYO1E Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYO1E Protein Expression
    REFSEQ proteins: NP_004989.2  
    ENSEMBL proteins: 
     ENSP00000288235   ENSP00000453936   ENSP00000453232   ENSP00000454113   ENSP00000453178  
     ENSP00000453811  

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    Cloud-Clone Corp. Proteins for MYO1E 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005856cytoskeleton IDA17257598
    GO:0005911cell-cell junction ISS--
    GO:0005912adherens junction ISS--
    GO:0015629actin cytoskeleton TAS7932763

    MYO1E for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MYOI: Myosins / Myosin superfamily : Class I

    5 InterPro protein domains:
     IPR010926 Myosin_tail_2
     IPR001452 SH3_domain
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS
     IPR001609 Myosin_head_motor_dom

    Graphical View of Domain Structure for InterPro Entry Q12965

    ProtoNet protein and cluster: Q12965

    3 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB001452 SH3 domain signature
    IPB010926 Myosin tail 2


    UniProtKB/Swiss-Prot: MYO1E_HUMAN, Q12965
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 myosin head-like domain
    Similarity: Contains 1 SH3 domain


    MYO1E for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYO1E_HUMAN, Q12965
    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

         Genatlas biochemistry entry for MYO1E:
    myosin 1E,unconventional,127kDa

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity TAS7932763
    GO:0003774motor activity TAS7932763
    GO:0005515protein binding IPI17257598
    GO:0005516calmodulin binding IDA11940582
    GO:0005524ATP binding IEA--
         
    MYO1E for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for MYO1E:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa  Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Myo1e):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  mortality/aging  muscle 
     no phenotypic analysis  renal/urinary system 

    MYO1E for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Myo1etm1.1Flv for MYO1E

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYO1E 
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    miRTarBase miRNAs that target MYO1E:
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    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate MYO1E (see all 26):
    hsa-miR-3194-5p hsa-miR-181c hsa-miR-485-3p hsa-let-7a-2* hsa-miR-340 hsa-miR-23b* hsa-miR-144 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidMYO1E 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO1E


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MYO1E About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic0.66
    wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)0.35
    Transport Clathrin-coated vesicle cycle0.66
    2PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    3Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35
    4Fc-GammaR-Mediated Phagocytosis in Macrophages
    Fc-GammaR-Mediated Phagocytosis in Macrophages0.33
    RhoGDI Pathway0.33
    5Rho Family GTPases
    ILK Signaling0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MYO1E
        Clathrin-dependent protein traffic

    5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYO1E (see all 11)
        RhoA Pathway
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex
    Epithelial Adherens Junctions

    2 GeneGo (Thomson Reuters) Pathways for MYO1E
        wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle



    MYO1E for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYO1E

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/68 Interacting proteins for MYO1E (Q129651, 2, 3 ENSP000002882354) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNM2P505702, 3, ENSP000003527214MINT-7102140 MINT-7102290 I2D: score=1 STRING: ENSP00000352721
    SYNJ1O434262, 3, ENSP000003222344MINT-7102105 MINT-7102066 I2D: score=1 STRING: ENSP00000322234
    CALM1P621583I2D: score=5 
    CALM2P621583I2D: score=5 
    CALM3P621583I2D: score=5 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001570vasculogenesis IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001822kidney development ----
    GO:0003094glomerular filtration ISS--
    GO:0006807nitrogen compound metabolic process ----

    MYO1E for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MYO1E

    Search CenterWatch for drugs/clinical trials and news about MYO1E

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MYO1E gene: 
    NM_004998.3  

    Unigene Cluster for MYO1E:

    Myosin IE
    Hs.654506  [show with all ESTs]
    Unigene Representative Sequence: NM_004998
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000288235(uc002aga.3) ENST00000559412 ENST00000559269 ENST00000560749
    ENST00000558182 ENST00000560642 ENST00000559489 ENST00000558814 ENST00000558571
    ENST00000558646
    miRNA
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    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate MYO1E (see all 26):
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    Additional mRNA sequence: 

    AB290177.1 AK291688.1 BC067835.1 BC098392.1 L29139.1 U14391.1 

    18 DOTS entries:

    DT.453457  DT.99932663  DT.100685092  DT.121060169  DT.91757168  DT.95078703  DT.121060117  DT.75174115 
    DT.91757166  DT.95288350  DT.91757169  DT.91789270  DT.92034786  DT.92050356  DT.95078705  DT.95078731 
    DT.95078732  DT.75120537 

    24/116 AceView cDNA sequences (see all 116):

    BM738910 AW500694 AW500187 BX951053 BM739292 BM739039 CK000936 BQ348966 
    BQ688387 BQ897245 BQ056388 BQ687150 BM751935 BM760104 BM760167 BP349244 
    BM739988 AI921576 BQ932277 BM739973 BX951426 BM969626 BF822486 BG617608 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for MYO1E (see all 12)    About this scheme

    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:                                                                                            -                                                               

    ExUns: 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b · 26c ^ 27a · 27b ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32
    SP1:                                                                                                      
    SP2:        -                                                                                             
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for MYO1E

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MYO1E expression in normal human tissues (normalized intensities)      MYO1E embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGAATGTA
    MYO1E Expression
    About this image


    MYO1E expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   
     
     Kidney (Urinary System)
             Podocytes Podocyte Layer
     
     Lymph (Hematopoietic System)

    See MYO1E Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYO1E

    SOURCE GeneReport for Unigene cluster: Hs.654506

    UniProtKB/Swiss-Prot: MYO1E_HUMAN, Q12965
    Tissue specificity: Expressed in the immune system. In the kidney, predominantly expressed in the glomerulus,
    including podocytes

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for MYO1E gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myo1e1 , 5 myosin IE1, 5 88.83(n)1
    96.21(a)1
      9 (39.41 cM)5
    716021  NM_181072.31  NP_851417.21 
     702073505 
    chicken
    (Gallus gallus)
    Aves MYO1E1 myosin IE 79.98(n)
    91.24(a)
      415398  XM_413782.3  XP_413782.3 
    lizard
    (Anolis carolinensis)
    Reptilia MYO1E6
    --
    Uncharacterized protein
    89(a)
    57(a)
    1 ↔ 1
    possible ortholog
    GL343573.1(130476-164485)
    GL343616.1(313492-366181)
    African clawed frog
    (Xenopus laevis)
    Amphibia myo1e-prov2 myosin I e 75.51(n)    BC046842.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC057426.12   -- 74.92(n)   393609  BC057426.1 
    worm
    (Caenorhabditis elegans)
    Secernentea hum-11 , 3 myosin3
    Protein HUM-11
    61(a)
    (best of 2)3
    57.59(n)1
    58.24(a)1
      I(8854081-8859154)3
    1726981  NM_059992.21  NP_492393.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MYO56
    One of two type I myosins; contains proline-rich t...
    36(a)
    1 → many
    XIII(486587-490246)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYO1E gene
    MYO1D2  MYO15A2  MYO162  MYO1C2  MYO1A2  MYO1F2  MYO1G2  MYO1B2  
    MYO1H2  MYO192  
    18/36 SIMAP similar genes for MYO1E using alignment to 7 protein entries:     MYO1E_HUMAN (see all proteins) (see all similar genes):
    FLJ00395    MYO1F    MYO1F variant protein    MYH9    MYH14    MYO1B
    MYO1C    MYO5B    MYO1H    MYO5C    DKFZp686A01173    MYO19
    MYO3B    MYO9B    MYH7B    MYO18A    MYO1D    SH3GL2

    MYO1E for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MYO1E
    PGOHUM00000262062


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/6159 SNPs in MYO1E are shown (see all 6159)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0659584
    Focal segmental glomerulosclerosis 6 (FSGS6)4--see VAR_0659582 A P mis40--------
    VAR_0659604
    ----see VAR_0659602 A V mis40--------
    rs107179791,2
    C,F--36257329(+) ggtgc-/A/AA  
            
    aaaaa
    1 -- int1 trp32NA 4
    rs129019311,2
    A--36263460(+) ttttgG/Tttttt 1 -- int1 trp30--------
    rs353690421,2
    C--36291692(+) GCCGC-/TTAT  
            
    TTATT
    1 -- int10--------
    rs350083061,2
    C--36297579(+) AAAAA-/AGAGTG 1 -- int12Minor allele frequency- A:0.00NA CSA 4
    rs758368871,2
    C--36297580(+) ACGGGA/GAAAAA 1 -- int10--------
    rs343300731,2
    C--36297761(+) TTTTT-/TCTTGT 1 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs1126321791,2
    C--36298778(+) TTTTCT/-TTTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1118852341,2
    C--36300816(+) AATTT-/ATAAAA 1 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for MYO1E (59427113 - 59665099 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for MYO1E (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659534CNV Deletion23128226
    esv2660338CNV Deletion23128226
    nsv457175CNV Loss19166990
    nsv904273CNV Loss21882294
    nsv904272CNV Loss21882294
    nsv904274CNV Loss21882294
    esv1009383CNV Loss20482838
    nsv471246CNV Loss18288195
    nsv904254CNV Gain21882294
    nsv527307CNV Gain19592680


    Human Gene Mutation Database (HGMD): MYO1E
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601479    OMIM disorders: --

    UniProtKB/Swiss-Prot: MYO1E_HUMAN, Q12965
  • 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for MYO1E:    About MalaCards
    focal segmental glomerulosclerosis 6    focal segmental glomerulosclerosis    steroid-resistant nephrotic syndrome    nephrotic syndrome
    gigantism    proteinuria    intrahepatic cholangiocarcinoma    cholangiocarcinoma
    atherosclerosis

    1 disease from the University of Copenhagen DISEASES database for MYO1E:
    Focal segmental glomerulosclerosis

    MYO1E for disorders           About GeneDecksing

    Genetic Association Database (GAD): MYO1E
    Human Genome Epidemiology (HuGE) Navigator: MYO1E (1 document)

    Export disorders for MYO1E gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MYO1E gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with MYO1E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome. (PubMed id 21697813)1, 2 Sanna-Cherchi S.... Gharavi A.G. (2011)
    2. MYO1E mutations and childhood familial focal segmental glomerulosclerosis. (PubMed id 21756023)1, 2 Mele C.... Noris M. (2011)
    3. Myo1e binds anionic phospholipids with high affinity. (PubMed id 20860408)1, 2 Feeser E.A....Ostap E.M. (2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Myosin 1E interacts with synaptojanin-1 and dynamin and is involved in endocytosis. (PubMed id 17257598)1, 2 Krendel M....Mooseker M.S. (2007)
    6. The kinetic mechanism of Myo1e (human myosin-IC). (PubMed id 11940582)1, 2 El Mezgueldi M....Ostap E.M. (2002)
    7. Mapping of unconventional myosins in mouse and human. (PubMed id 8884266)1, 3 Hasson T.... Jenkins N.A. (1996)
    8. Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types. (PubMed id 8022818)1, 2 Bement W.M....Mooseker M.S. (1994)
    9. Cloning and mRNA expression of human unconventional myosin-IC. A homologue of amoeboid myosins-I with a single IQ motif and an SH3 domain. (PubMed id 7932763)1, 2 Bement W.M.... Mooseker M.S. (1994)
    10. The P-body component USP52/PAN2 is a novel regulator o f HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4643 HGNC: 7599 AceView: MYO1E Ensembl:ENSG00000157483 euGenes: HUgn4643
    ECgene: MYO1E H-InvDB: MYO1E

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MYO1E Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MYO1E gene:
    Search GeneIP for patents involving MYO1E

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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