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MYO15A myosin XVA [ Homo sapiens (human) ]

Gene ID: 51168, updated on 23-Sep-2018

Summary

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

Genomic context

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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
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
 
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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

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