Human Gene MYO5A (ENST00000553916.6) from GENCODE V44
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt G3V394)
RefSeq Summary (NM_001382347): This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000553916.6
Gencode Gene: ENSG00000197535.16
Transcript (Including UTRs)
   Position: hg38 chr15:52,313,110-52,528,880 Size: 215,771 Total Exon Count: 40 Strand: -
Coding Region
   Position: hg38 chr15:52,313,696-52,528,806 Size: 215,111 Coding Exon Count: 40 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:52,313,110-52,528,880)mRNA (may differ from genome)Protein (1841 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
MalacardsMGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: G3V394_HUMAN
DESCRIPTION: SubName: Full=Unconventional myosin-Va;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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: MYO5A
Diseases sorted by gene-association score: griscelli syndrome, type 1* (1397), griscelli syndrome, type 3* (549), elejalde disease* (369), visual epilepsy* (283), dystonia* (231), seizure disorder* (200), griscelli syndrome (28), griscelli syndrome, type 2 (12), cardiomyopathy, dilated, 1p (7), piebaldism (6)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.62 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 356.52 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 -42.7074-0.577 Picture PostScript Text
3' UTR -133.90586-0.228 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
IPR018444 - Dil_domain
IPR002710 - Dilute
IPR000048 - IQ_motif_EF-hand-BS
IPR001609 - Myosin_head_motor_dom

Pfam Domains:
PF01843 - DIL domain
PF00612 - IQ calmodulin-binding motif
PF00063 - Myosin head (motor domain)

ModBase Predicted Comparative 3D Structure on G3V394
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-  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     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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:0005524 ATP binding
GO:0008017 microtubule binding
GO:0051015 actin filament binding

Biological Process:
GO:0007018 microtubule-based movement

Cellular Component:
GO:0016459 myosin complex


-  Descriptions from all associated GenBank mRNAs
  AB290180 - Homo sapiens mRNA for MYO5A variant protein, complete cds.
U90942 - Human myosin heavy chain 12 (MYO5A) mRNA, complete cds.
Y07759 - H.sapiens mRNA for myosin heavy chain 12.
BC156392 - Synthetic construct Homo sapiens clone IMAGE:100062004, MGC:190139 myosin VA (heavy chain 12, myoxin) (MYO5A) mRNA, encodes complete protein.
BC172485 - Synthetic construct Homo sapiens clone IMAGE:100069179, MGC:199190 myosin VA (heavy chain 12, myoxin) (MYO5A) mRNA, encodes complete protein.
AK303660 - Homo sapiens cDNA FLJ50342 partial cds, highly similar to Myosin-5A.
AK307600 - Homo sapiens cDNA, FLJ97548.
AB209505 - Homo sapiens mRNA for Myosin Va variant protein.
AB209487 - Homo sapiens mRNA for Myosin Va variant protein.
JD350495 - Sequence 331519 from Patent EP1572962.
JD228396 - Sequence 209420 from Patent EP1572962.
JD552033 - Sequence 533057 from Patent EP1572962.
JD467607 - Sequence 448631 from Patent EP1572962.
JD185583 - Sequence 166607 from Patent EP1572962.
JD327972 - Sequence 308996 from Patent EP1572962.
JD073843 - Sequence 54867 from Patent EP1572962.
JD539370 - Sequence 520394 from Patent EP1572962.
JD317904 - Sequence 298928 from Patent EP1572962.
JD083516 - Sequence 64540 from Patent EP1572962.
JD182157 - Sequence 163181 from Patent EP1572962.
JD525291 - Sequence 506315 from Patent EP1572962.
JD100837 - Sequence 81861 from Patent EP1572962.
EU921839 - Homo sapiens myosin Va mRNA, exons A, C, E, and partial cds, alternatively spliced.
S74799 - MYH12=myosin heavy chain 12 [human, brain, mRNA Partial, 1235 nt].
Z22957 - H.sapiens myosin I homologue.
AF055459 - Homo sapiens myosin Va (MYR12) mRNA, alternatively spliced, partial cds.
AF090424 - Homo sapiens alternatively spliced myosin V mRNA, partial cds.
AF090425 - Homo sapiens alternatively spliced myosin V mRNA, partial cds.
AF090427 - Homo sapiens alternatively spliced myosin V mRNA, partial cds.
AF090426 - Homo sapiens alternatively spliced myosin V mRNA, partial cds.
AF090428 - Homo sapiens alternatively spliced myosin V mRNA, partial cds.
AK057146 - Homo sapiens cDNA FLJ32584 fis, clone SPLEN2000350.
JD128358 - Sequence 109382 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000553916.1, ENST00000553916.2, ENST00000553916.3, ENST00000553916.4, ENST00000553916.5, G3V394, G3V394_HUMAN, U90942, uc002acb.1, uc002acb.2, uc002acb.3
UCSC ID: ENST00000553916.6
RefSeq Accession: NM_001382347
Protein: G3V394

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