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    MYO15A myosin XVA [ Homo sapiens (human) ]

    Gene ID: 51168, updated on 5-May-2024

    Summary

    Official Symbol
    MYO15Aprovided by HGNC
    Official Full Name
    myosin XVAprovided by HGNC
    Primary source
    HGNC:HGNC:7594
    See related
    Ensembl:ENSG00000091536 MIM:602666; AllianceGenome:HGNC:7594
    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
    NEW
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    Genomic context

    See MYO15A in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18108756..18179800)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (18055569..18126619)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18012070..18083114)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11823 Neighboring gene GID complex subunit 4 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17991145-17991646 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17991647-17992146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18010366-18011013 Neighboring gene uncharacterized LOC105371566 Neighboring gene developmentally regulated GTP binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18038431-18039424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18039425-18040418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18045565-18046530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18046531-18047495 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124903944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18053522-18054022 Neighboring gene uncharacterized LOC105371567 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18056260-18056783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18070429-18070930 Neighboring gene Sharpr-MPRA regulatory region 12190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18087137-18087974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8269 Neighboring gene alkB homolog 5, RNA demethylase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18133833-18134668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18134669-18135502 Neighboring gene LLGL scribble cell polarity complex component 1 Neighboring gene FLII actin remodeling protein

    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
    Autosomal recessive nonsyndromic hearing loss 3
    MedGen: C1838263 OMIM: 600316 GeneReviews: Genetic Hearing Loss Overview
    Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ17274, FLJ31311, DKFZp686N18198

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microfilament motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to light stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound 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
     
    is_active_in actin-based cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of myosin complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in stereocilium IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    unconventional myosin-XV
    Names
    myosin-XV
    unconventional myosin-15

    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_011634.2 RefSeqGene

      Range
      5051..76095
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016239.4NP_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
      B4DFC7, Q9UKN7
      Related
      ENSP00000495481.1, ENST00000647165.2
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      18108756..18179800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024715.3XP_016880204.1  unconventional myosin-XV isoform X5

    2. XM_017024714.3XP_016880203.1  unconventional myosin-XV isoform X1

    3. XM_011523918.3XP_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_024450781.2XP_024306549.1  unconventional myosin-XV isoform X4

      Conserved Domains (3) summary
      smart00015
      Location:19231944
      IQ; Calmodulin-binding motif
      PHA03247
      Location:7231144
      PHA03247; large tegument protein UL36; Provisional
      cd01387
      Location:12361885
      MYSc_Myo15; class XV mammal-like myosin, motor domain
    5. XM_024450780.2XP_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

    RNA

    1. XR_934039.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      18055569..18126619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316349.1XP_054172324.1  unconventional myosin-XV isoform X5

    2. XM_054316345.1XP_054172320.1  unconventional myosin-XV isoform X1

    3. XM_054316346.1XP_054172321.1  unconventional myosin-XV isoform X2

    4. XM_054316348.1XP_054172323.1  unconventional myosin-XV isoform X4

    5. XM_054316347.1XP_054172322.1  unconventional myosin-XV isoform X3

    RNA

    1. XR_008484826.1 RNA Sequence