Human Gene MYO3A (ENST00000642920.2_4) from GENCODE V47lift37
  Description: myosin IIIA, transcript variant 1 (from RefSeq NM_017433.5)
Gencode Transcript: ENST00000642920.2_4
Gencode Gene: ENSG00000095777.17_13
Transcript (Including UTRs)
   Position: hg19 chr10:26,223,158-26,501,461 Size: 278,304 Total Exon Count: 35 Strand: +
Coding Region
   Position: hg19 chr10:26,241,040-26,500,892 Size: 259,853 Coding Exon Count: 33 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:26,223,158-26,501,461)mRNA (may differ from genome)Protein (1616 aa)
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-  Comments and Description Text from UniProtKB
  ID: MYO3A_HUMAN
DESCRIPTION: RecName: Full=Myosin-IIIa; EC=2.7.11.1;
FUNCTION: Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing.
CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
TISSUE SPECIFICITY: Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas.
DISEASE: Defects in MYO3A are the cause of deafness autosomal recessive type 30 (DFNB30) [MIM:607101]. DFNB30 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: In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family.
SIMILARITY: Contains 3 IQ domains.
SIMILARITY: Contains 1 myosin head-like domain.
SIMILARITY: Contains 1 protein kinase domain.

-  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: MYO3A
Diseases sorted by gene-association score: deafness, autosomal recessive 30* (937), dfnb30 nonsyndromic hearing loss and deafness* (100), autosomal recessive non-syndromic sensorineural deafness type dfnb* (97), deafness, autosomal recessive 77 (12), deafness, autosomal dominant 48 (10), deafness, autosomal dominant 17 (10), deafness, autosomal dominant 22 (10), deafness, autosomal recessive 37 (8), deafness, autosomal dominant 1 (7), autosomal recessive nonsyndromic deafness 3 (6), nonsyndromic deafness (1)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -60.70204-0.298 Picture PostScript Text
3' UTR -204.80569-0.360 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
IPR011009 - Kinase-like_dom
IPR001609 - Myosin_head_motor_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR002290 - Ser/Thr_dual-sp_kinase_dom

Pfam Domains:
PF00063 - Myosin head (motor domain)
PF00069 - Protein kinase domain
PF00612 - IQ calmodulin-binding motif
PF07714 - Protein tyrosine and serine/threonine kinase

SCOP Domains:
50249 - Nucleic acid-binding proteins
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
56112 - Protein kinase-like (PK-like)

ModBase Predicted Comparative 3D Structure on Q8NEV4
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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 DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000146 microfilament motor activity
GO:0000166 nucleotide binding
GO:0003774 motor activity
GO:0003779 actin binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0030898 actin-dependent ATPase activity
GO:0043531 ADP binding
GO:0060002 plus-end directed microfilament motor activity

Biological Process:
GO:0006468 protein phosphorylation
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0016310 phosphorylation
GO:0046777 protein autophosphorylation
GO:0050896 response to stimulus
GO:0090103 cochlea morphogenesis

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0016459 myosin complex
GO:0030175 filopodium
GO:0031941 filamentous actin
GO:0032420 stereocilium
GO:0032426 stereocilium tip
GO:0032433 filopodium tip
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK310494 - Homo sapiens cDNA, FLJ17536.
AF229172 - Homo sapiens class III myosin (MYO3A) mRNA, complete cds, alternatively spliced.
GQ891517 - Homo sapiens clone HEL-S-238 epididymis secretory sperm binding protein mRNA, complete cds.
AY101367 - Homo sapiens myosin IIIA (MYO3A) mRNA, complete cds.
BC119811 - Homo sapiens myosin IIIA, mRNA (cDNA clone IMAGE:40108813), complete cds.
BC125272 - Homo sapiens myosin IIIA, mRNA (cDNA clone IMAGE:40108815).
BC156362 - Synthetic construct Homo sapiens clone IMAGE:100061876, MGC:190121 myosin IIIA (MYO3A) mRNA, encodes complete protein.
BC036079 - Homo sapiens myosin IIIA, mRNA (cDNA clone IMAGE:5286499), complete cds.
BC045538 - Homo sapiens myosin IIIA, mRNA (cDNA clone IMAGE:5313562), complete cds.
AK310468 - Homo sapiens cDNA, FLJ17510.
JD158003 - Sequence 139027 from Patent EP1572962.
JD155179 - Sequence 136203 from Patent EP1572962.
JD142307 - Sequence 123331 from Patent EP1572962.
JD441613 - Sequence 422637 from Patent EP1572962.
JD256929 - Sequence 237953 from Patent EP1572962.
JD132820 - Sequence 113844 from Patent EP1572962.
JD491443 - Sequence 472467 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000642920.1, MYO3A_HUMAN, NM_017433, Q4G0X2, Q5VZ28, Q8NEV4, Q8WX17, Q9NYS8, uc328jdt.1, uc328jdt.2
UCSC ID: ENST00000642920.2_4
RefSeq Accession: NM_017433.5
Protein: Q8NEV4 (aka MYO3A_HUMAN or MY3A_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MYO3A:
deafness-overview (Genetic Hearing Loss Overview)

-  Gene Model Information
  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.