Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    MYO15A myosin XVA [ Homo sapiens (human) ]

    Gene ID: 51168, updated on 19-May-2018
    Official Symbol
    MYO15Aprovided by HGNC
    Official Full Name
    myosin XVAprovided by HGNC
    Primary source
    HGNC:HGNC:7594
    See related
    Ensembl:ENSG00000091536 MIM:602666; Vega:OTTHUMG00000059390
    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
    DFNB3; MYO15
    Summary
    This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 1.5), ovary (RPKM 0.3) and 6 other tissues See more
    Orthologs
    See MYO15A in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (18108706..18180244)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18012020..18083116)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene GID complex subunit 4 homolog Neighboring gene uncharacterized LOC105371566 Neighboring gene developmentally regulated GTP binding protein 2 Neighboring gene uncharacterized LOC105371567 Neighboring gene alkB homolog 5, RNA demethylase Neighboring gene LLGL1, scribble cell polarity complex component Neighboring gene FLII, actin remodeling protein

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Deafness, autosomal recessive 3 Compare labs

    NHGRI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ17274, FLJ31311, DKFZp686N18198

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule binding IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule-based movement IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    myosin complex IEA
    Inferred from Electronic Annotation
    more info
     
    stereocilium IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    unconventional myosin-XV
    Names
    myosin-XV
    unconventional myosin-15

    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_011634.1 RefSeqGene

      Range
      5001..76097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016239.3NP_057323.3  unconventional myosin-XV

      See identical proteins and their annotated locations for NP_057323.3

      Status: REVIEWED

      Source sequence(s)
      AC087164, AF144094
      Consensus CDS
      CCDS42271.1
      UniProtKB/Swiss-Prot
      Q9UKN7
      Related
      ENSP00000205890.5, OTTHUMP00000065690, ENST00000205890.10, OTTHUMT00000132048
      Conserved Domains (7) summary
      cd12067
      Location:28712950
      SH3_MYO15A; Src Homology 3 domain of Myosin XVa
      smart00139
      Location:30503204
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00242
      Location:12171899
      MYSc; Myosin. Large ATPases
      smart00295
      Location:32143419
      B41; Band 4.1 homologues
      cd13201
      Location:34153516
      FERM_C_MyoXV; FERM domain C-lobe of Myosin XV (MyoXV/Myo15)
      cd14473
      Location:33093411
      FERM_B-lobe; FERM domain B-lobe
      cd01387
      Location:12361887
      MYSc_Myo15; class XV mammal-like myosin, motor domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      18108706..18180244
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024715.2XP_016880204.1  unconventional myosin-XV isoform X6

    2. XM_017024714.2XP_016880203.1  unconventional myosin-XV isoform X1

    3. XM_011523918.2XP_011522220.1  unconventional myosin-XV isoform X2

      Conserved Domains (3) summary
      smart00242
      Location:12171897
      MYSc; Myosin. Large ATPases
      cd01387
      Location:12361885
      MYSc_Myo15; class XV mammal-like myosin, motor domain
      cl02480
      Location:20452115
      MyTH4; MyTH4 domain
    4. XM_024450781.1XP_024306549.1  unconventional myosin-XV isoform X4

      Conserved Domains (3) summary
      smart00015
      Location:19231944
      IQ; Calmodulin-binding motif
      cd01387
      Location:12361885
      MYSc_Myo15; class XV mammal-like myosin, motor domain
      cl26464
      Location:7231144
      Atrophin-1; Atrophin-1 family
    5. XM_024450780.1XP_024306548.1  unconventional myosin-XV isoform X3

      Conserved Domains (3) summary
      smart00015
      Location:19231944
      IQ; Calmodulin-binding motif
      cd01387
      Location:12361885
      MYSc_Myo15; class XV mammal-like myosin, motor domain
      cl26464
      Location:7231144
      Atrophin-1; Atrophin-1 family
    6. XM_024450782.1XP_024306550.1  unconventional myosin-XV isoform X5

      Conserved Domains (3) summary
      smart00015
      Location:19231944
      IQ; Calmodulin-binding motif
      cd01387
      Location:12361885
      MYSc_Myo15; class XV mammal-like myosin, motor domain
      cl26464
      Location:7231144
      Atrophin-1; Atrophin-1 family

    RNA

    1. XR_934039.2 RNA Sequence

    Support Center