Human Gene MYO6 (uc003pig.1) Description and Page Index
  Description: Homo sapiens myosin VI (MYO6), mRNA.
RefSeq Summary (NM_004999): This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014].
Transcript (Including UTRs)
   Position: hg19 chr6:76,458,909-76,617,425 Size: 158,517 Total Exon Count: 29 Strand: +
Coding Region
   Position: hg19 chr6:76,527,265-76,617,424 Size: 90,160 Coding Exon Count: 28 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:76,458,909-76,617,425)mRNA (may differ from genome)Protein (1070 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MYO6
CDC HuGE Published Literature: MYO6

-  MalaCards Disease Associations
  MalaCards Gene Search: MYO6
Diseases sorted by gene-association score: deafness, autosomal dominant 22* (1589), deafness, autosomal recessive 37* (1248), autosomal dominant non-syndromic sensorineural deafness type dfna* (175), nonsyndromic deafness* (102), autosomal recessive non-syndromic sensorineural deafness type dfnb* (101), dfna22 nonsyndromic hearing loss and deafness* (100), dfnb37 nonsyndromic hearing loss and deafness* (100), nonsyndromic hearing loss and deafness* (92), sensorineural hearing loss (10), deafness, autosomal dominant 15 (9), deafness, autosomal dominant 11 (8), autosomal recessive nonsyndromic deafness 3 (7), deafness, autosomal recessive 2 (7), autosomal dominant nonsyndromic deafness (7), deafness, autosomal dominant 17 (7), deafness, autosomal recessive 30 (7), deafness, autosomal dominant 48 (6), cardiomyopathy (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.86 RPKM in Kidney - Cortex
Total median expression: 412.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -113.70279-0.408 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00063 - Myosin head (motor domain)
PF00612 - IQ calmodulin-binding motif

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q9UM54-5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BX647397 - Homo sapiens mRNA; cDNA DKFZp686L10144 (from clone DKFZp686L10144).
BC012598 - Homo sapiens myosin VI, mRNA (cDNA clone IMAGE:4295486), with apparent retained intron.
AB002387 - Homo sapiens mRNA for KIAA0389 gene.
BC146764 - Homo sapiens myosin VI, mRNA (cDNA clone MGC:166836 IMAGE:9007206), complete cds.
U90236 - Homo sapiens myosin VI (MYO6) mRNA, complete cds.
AB385322 - Synthetic construct DNA, clone: pF1KA0389, Homo sapiens MYO6 gene for myosin-VI, complete cds, without stop codon, in Flexi system.
KJ891664 - Synthetic construct Homo sapiens clone ccsbBroadEn_01058 MYO6 gene, encodes complete protein.
KY781827 - Homo sapiens myosin VI transcript variant 007 (Myo6-007) mRNA, complete cds, alternatively spliced.
KY781828 - Homo sapiens myosin VI transcript variant 008 (Myo6-008) mRNA, complete cds, alternatively spliced.
L29145 - Homo sapiens myosin mRNA, partial cds.
JD368568 - Sequence 349592 from Patent EP1572962.
JD126088 - Sequence 107112 from Patent EP1572962.
LF208563 - JP 2014500723-A/16066: Polycomb-Associated Non-Coding RNAs.
AK095294 - Homo sapiens cDNA FLJ37975 fis, clone CTONG2010133, highly similar to Homo sapiens myosin VI (MYO6) gene.
MA444140 - JP 2018138019-A/16066: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UM54 (Reactome details) participates in the following event(s):

R-HSA-190519 Internalization of gap junction plaques
R-HSA-416320 Trafficking of GluR1-containing AMPA receptors
R-HSA-190873 Gap junction degradation
R-HSA-399719 Trafficking of AMPA receptors
R-HSA-190828 Gap junction trafficking
R-HSA-399721 Glutamate binding, activation of AMPA receptors and synaptic plasticity
R-HSA-157858 Gap junction trafficking and regulation
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-199991 Membrane Trafficking
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-5653656 Vesicle-mediated transport
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: BX647397, KIAA0389, NM_004999, NP_004990, Q9UM54-5
UCSC ID: uc003pig.1
RefSeq Accession: NM_004999
Protein: Q9UM54-5, splice isoform of Q9UM54

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MYO6:
deafness-overview (Hereditary Hearing Loss and Deafness Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BX647397.1
exon count: 29CDS single in 3' UTR: no RNA size: 3435
ORF size: 3210CDS single in intron: no Alignment % ID: 99.82
txCdsPredict score: 4764.00frame shift in genome: no % Coverage: 99.53
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.