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
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.
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.
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.