Human Gene MYO1A (ENST00000300119.8) from GENCODE V44
  Description: Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA. (from RefSeq NM_005379)
RefSeq Summary (NM_005379): This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011].
Gencode Transcript: ENST00000300119.8
Gencode Gene: ENSG00000166866.13
Transcript (Including UTRs)
   Position: hg38 chr12:57,028,517-57,050,129 Size: 21,613 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg38 chr12:57,028,755-57,048,323 Size: 19,569 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 09:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:57,028,517-57,050,129)mRNA (may differ from genome)Protein (1043 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Unconventional myosin-Ia; AltName: Full=Brush border myosin I; Short=BBM-I; Short=BBMI; AltName: Full=Myosin I heavy chain; Short=MIHC;
FUNCTION: Involved in directing the movement of organelles along actin filaments (Potential).
DISEASE: Defects in MYO1A are the cause of deafness autosomal dominant type 48 (DFNA48) [MIM:607841]. DFNA48 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
SIMILARITY: Contains 3 IQ domains.
SIMILARITY: Contains 1 myosin head-like domain.
CAUTION: Represents a unconventional myosin. This protein should not be confused with the conventional myosin-1 (MYH1).

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: MYO1A
Diseases sorted by gene-association score: dfna48 nonsyndromic hearing loss and deafness* (100), deafness, autosomal dominant 48 (13), deafness, autosomal dominant 17 (12), deafness, autosomal dominant 22 (12), deafness, autosomal recessive 37 (10), deafness, autosomal recessive 30 (10), deafness, autosomal dominant 1 (8), autosomal recessive nonsyndromic deafness 3 (7), deafness, autosomal dominant 11 (7), deafness, autosomal recessive 2 (7), autosomal dominant non-syndromic sensorineural deafness type dfna* (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 103.87 RPKM in Small Intestine - Terminal Ileum
Total median expression: 160.74 RPKM

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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -80.40263-0.306 Picture PostScript Text
3' UTR -71.60238-0.301 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
  InterPro Domains: Graphical view of domain structure
IPR000048 - IQ_motif_EF-hand-BS
IPR001609 - Myosin_head_motor_dom
IPR010926 - Myosin_tail_2

Pfam Domains:
PF00612 - IQ calmodulin-binding motif
PF00063 - Myosin head (motor domain)
PF06017 - Unconventional myosin tail, actin- and lipid-binding

ModBase Predicted Comparative 3D Structure on Q9UBC5
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0003779 actin binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0051015 actin filament binding

Biological Process:
GO:0007018 microtubule-based movement
GO:0007605 sensory perception of sound
GO:0030030 cell projection organization
GO:0030033 microvillus assembly
GO:0051648 vesicle localization

Cellular Component:
GO:0005737 cytoplasm
GO:0005902 microvillus
GO:0005903 brush border
GO:0009925 basal plasma membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0016328 lateral plasma membrane
GO:0016459 myosin complex
GO:0030864 cortical actin cytoskeleton
GO:0031941 filamentous actin
GO:0044853 plasma membrane raft

-  Descriptions from all associated GenBank mRNAs
  AF105424 - Homo sapiens brush border myosin I (BBMI) mRNA, complete cds.
JD165932 - Sequence 146956 from Patent EP1572962.
AF127026 - Homo sapiens brush border myosin I (BBMI) mRNA, complete cds.
AK300381 - Homo sapiens cDNA FLJ50215 complete cds, highly similar to Myosin Ia.
BC059387 - Homo sapiens myosin IA, mRNA (cDNA clone MGC:71694 IMAGE:30341497), complete cds.
JD419203 - Sequence 400227 from Patent EP1572962.
JD445997 - Sequence 427021 from Patent EP1572962.
AF009961 - Homo sapiens brush border myosin-I mRNA, complete cds.
AK312431 - Homo sapiens cDNA, FLJ92777, highly similar to Homo sapiens myosin IA (MYO1A), mRNA.
L29137 - Homo sapiens myosin mRNA, partial cds.
JD528532 - Sequence 509556 from Patent EP1572962.
JD132635 - Sequence 113659 from Patent EP1572962.
JD099622 - Sequence 80646 from Patent EP1572962.
JD403036 - Sequence 384060 from Patent EP1572962.
JD278509 - Sequence 259533 from Patent EP1572962.
JD470725 - Sequence 451749 from Patent EP1572962.
JD215939 - Sequence 196963 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000300119.1, ENST00000300119.2, ENST00000300119.3, ENST00000300119.4, ENST00000300119.5, ENST00000300119.6, ENST00000300119.7, MYHL, MYO1A_HUMAN, NM_005379, Q9UBC5, Q9UQD7, uc009zpd.1, uc009zpd.2, uc009zpd.3, uc009zpd.4
UCSC ID: ENST00000300119.8
RefSeq Accession: NM_005379
Protein: Q9UBC5 (aka MYO1A_HUMAN or MY1A_HUMAN)
CCDS: CCDS8929.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MYO1A:
deafness-overview (Genetic Hearing Loss Overview)

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