ID:MYO5A_HUMAN DESCRIPTION: RecName: Full=Unconventional myosin-Va; AltName: Full=Dilute myosin heavy chain, non-muscle; AltName: Full=Myosin heavy chain 12; AltName: Full=Myosin-12; AltName: Full=Myoxin; FUNCTION: Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation. SUBUNIT: May be a homodimer, which associates with multiple calmodulin or myosin light chains. Binds MLPH and MYRIP. Interacts with RIPL2, the interaction is required for its role in dendrite formation (By similarity). Interacts with RAB10; mediates the transport to the plasma membrane of SLC2A4/GLUT4 storage vesicles. TISSUE SPECIFICITY: Detected in melanocytes. DISEASE: Defects in MYO5A are a cause of Griscelli syndrome type 1 (GS1) [MIM:214450]; also known as Griscelli syndrome with primary neurologic impairment. Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities. DISEASE: Defects in MYO5A are a cause of Griscelli syndrome type 3 (GS3) [MIM:609227]. GS3 is characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes, without other clinical manifestations. DISEASE: Defects in MYO5A are a cause of Elejalde syndrome (ELEJAS) [MIM:256710]; also known as neuroectodermal melanolysosomal disease. Elejalde syndrome is an autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type 1. SIMILARITY: Contains 1 dilute domain. SIMILARITY: Contains 6 IQ domains. SIMILARITY: Contains 1 myosin head-like domain. WEB RESOURCE: Name=MYO5Abase; Note=MYO5A mutation db; URL="http://bioinf.uta.fi/MYO5Abase/";
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.
ModBase Predicted Comparative 3D Structure on Q9Y4I1
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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.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
