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    MYO1E myosin IE [ Homo sapiens (human) ]

    Gene ID: 4643, updated on 9-Dec-2024

    Summary

    Official Symbol
    MYO1Eprovided by HGNC
    Official Full Name
    myosin IEprovided by HGNC
    Primary source
    HGNC:HGNC:7599
    See related
    Ensembl:ENSG00000157483 MIM:601479; AllianceGenome:HGNC:7599
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FSGS6; MYO1C; HuncM-IC
    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]
    Annotation information
    Note: MYO1C (Gene ID: 4641) and MYO1E (Gene ID: 4643) share the MYO1C symbol/alias in common. MYO1C is a widely used alternative name for myosin IE (MYO1E), which can be confused with the official symbol for myosin IC (MYO1C). [09 Jul 2018]
    Expression
    Ubiquitous expression in colon (RPKM 17.7), gall bladder (RPKM 16.8) and 24 other tissues See more
    Orthologs
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    Genomic context

    See MYO1E in Genome Data Viewer
    Location:
    15q22.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (59132434..59372871, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (56934526..57174966, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (59424633..59665070, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ring finger protein 111 Neighboring gene ribosomal protein L21 pseudogene 113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:59423635-59424134 Neighboring gene Sharpr-MPRA regulatory region 4265 Neighboring gene cyclin B2 Neighboring gene OCT4 hESC enhancer GRCh37_chr15:59453332-59453833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9486 Neighboring gene microRNA 2116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:59521359-59521858 Neighboring gene RNA, U4 small nuclear 80, pseudogene Neighboring gene lactate dehydrogenase A like 6B Neighboring gene Sharpr-MPRA regulatory region 2447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6487 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:59596416-59596592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9487 Neighboring gene NANOG hESC enhancer GRCh37_chr15:59620781-59621282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9488 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59645915-59646434 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59646435-59646955 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59646956-59647475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:59652703-59653204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:59653205-59653704 Neighboring gene RNA, U6 small nuclear 212, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59657838-59658422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59658423-59659005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6488 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59664350-59664853 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:59664854-59665358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:59672263-59672764 Neighboring gene uncharacterized LOC124903597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9491 Neighboring gene Sharpr-MPRA regulatory region 1182 Neighboring gene family with sequence similarity 81 member A Neighboring gene NSA2 pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Focal segmental glomerulosclerosis 6
    MedGen: C3279905 OMIM: 614131 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Common variation contributes to the genetic architecture of social communication traits.
    EBI GWAS Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104638

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calmodulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glomerular basement membrane development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glomerular filtration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glomerulus development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet-derived growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in podocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in post-embryonic hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in brush border IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with clathrin-coated endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cuticular plate IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in microvillus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of myosin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    unconventional myosin-Ie
    Names
    MYO1E variant protein
    myosin-IC
    unconventional myosin 1E

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031999.1 RefSeqGene

      Range
      5001..241904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004998.4NP_004989.2  unconventional myosin-Ie

      See identical proteins and their annotated locations for NP_004989.2

      Status: REVIEWED

      Source sequence(s)
      AC092757, AC092868, BC098392
      Consensus CDS
      CCDS32254.1
      UniProtKB/Swiss-Prot
      Q12965, Q14778
      UniProtKB/TrEMBL
      Q4KMR3
      Related
      ENSP00000288235.4, ENST00000288235.9
      Conserved Domains (4) summary
      cd11827
      Location:10561107
      SH3_MyoIe_If_like; Src homology 3 domain of Myosins Ie, If, and similar proteins
      smart00242
      Location:14692
      MYSc; Myosin. Large ATPases
      cd01378
      Location:33679
      MYSc_Myo1; class I myosin, motor domain
      pfam06017
      Location:719902
      Myosin_TH1; Unconventional myosin tail, actin- and lipid-binding

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      59132434..59372871 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      56934526..57174966 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)