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Ask your administrator if you think this is wrong. ======= MYO5A ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: MYO5A * **<color #00a2e8>Official Name</color>**: myosin VA * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4644|4644]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y4I1|Q9Y4I1]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MYO5A&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MYO5A|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/160777|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: 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. {ECO:0000269|PubMed:10448864}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |DIL| |IQ| |Myosin head| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |establishment of endoplasmic reticulum localization to postsynapse| |establishment of ER localization| |regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity| |vesicle transport along actin filament| |locomotion involved in locomotory behavior| |hair follicle maturation| |insulin-responsive compartment| |unconventional myosin complex| |actin filament-based transport| |endoplasmic reticulum localization| |secretory granule localization| |regulation of postsynaptic cytosolic calcium ion concentration| |melanin biosynthetic process| |actomyosin| |melanin metabolic process| |regulation of Golgi organization| |filopodium tip| |secondary metabolite biosynthetic process| |microfilament motor activity| |microtubule plus-end| |melanosome transport| |melanocyte differentiation| |pigment granule transport| |establishment of melanosome localization| |establishment of pigment granule localization| |melanosome localization| |pigment granule localization| |smooth endoplasmic reticulum| |long-chain fatty acid biosynthetic process| |pigment cell differentiation| |disordered domain specific binding| |phenol-containing compound biosynthetic process| |insulin secretion| |developmental pigmentation| |cellular pigmentation| |vesicle cytoskeletal trafficking| |pigment biosynthetic process| |secondary metabolic process| |peptide hormone secretion| |photoreceptor outer segment| |pigment metabolic process| |hair follicle development| |hormone secretion| |skin epidermis development| |hair cycle process| |molting cycle process| |regulation of release of sequestered calcium ion into cytosol| |hormone transport| |actin filament| |phenol-containing compound metabolic process| |postsynapse| |regulation of calcium ion transmembrane transporter activity| |pigmentation| |hair cycle| |molting cycle| |ruffle| |regulation of calcium-mediated signaling| |regulation of calcium ion transport into cytosol| |melanosome| |post-Golgi vesicle-mediated transport| |myelination| |axon ensheathment| |peroxisome| |ensheathment of neurons| |actin filament-based movement| |long-chain fatty acid metabolic process| |recycling endosome| |intermediate filament| |fatty acid biosynthetic process| |odontogenesis| |regulation of sequestering of calcium ion| |late endosome| |growth cone| |anatomical structure maturation| |vesicle| |regulation of calcium ion transmembrane transport| |Rab GTPase binding| |protein secretion| |establishment of protein localization to extracellular region| |cellular response to insulin stimulus| |protein localization to extracellular region| |signal release| |regulation of cation channel activity| |peptide secretion| |establishment of vesicle localization| |cytoskeleton-dependent intracellular transport| |protein localization to plasma membrane| |vesicle localization| |monocarboxylic acid biosynthetic process| |organic hydroxy compound biosynthetic process| |locomotory behavior| |calmodulin binding| |actin filament binding| |visual perception| |sensory perception of light stimulus| |response to insulin| |protein localization to cell periphery| |developmental maturation| |regulation of calcium ion transport| |lysosome| |early endosome| |regulation of ion transmembrane transporter activity| |regulation of transmembrane transporter activity| |cellular response to peptide hormone stimulus| |synapse organization| |regulation of transporter activity| |carboxylic acid biosynthetic process| |organic acid biosynthetic process| |neuron projection| |fatty acid metabolic process| |cellular response to peptide| |regulation of cytosolic calcium ion concentration| |regulation of cation transmembrane transport| |glutamatergic synapse| |establishment of organelle localization| |neuronal cell body| |Golgi vesicle transport| |skin development| |regulation of metal ion transport| |response to peptide hormone| |epidermis development| |chemical synaptic transmission| |anterograde trans-synaptic signaling| |cellular calcium ion homeostasis| |trans-synaptic signaling| |calcium ion homeostasis| |organic hydroxy compound metabolic process| |synaptic signaling| |cellular divalent inorganic cation homeostasis| |response to peptide| |regulation of ion transmembrane transport| |protein localization to membrane| |divalent inorganic cation homeostasis| |monocarboxylic acid metabolic process| |regulation of hormone levels| |cellular metal ion homeostasis| |regulation of transmembrane transport| |actin filament-based process| |behavior| |lipid biosynthetic process| |organelle localization| |small molecule biosynthetic process| |cellular response to organonitrogen compound| |cellular response to hormone stimulus| |metal ion homeostasis| |cellular cation homeostasis| |cellular ion homeostasis| |cellular response to nitrogen compound| |regulation of ion transport| |cation homeostasis| |inorganic ion homeostasis| |calcium ion binding| |cellular chemical homeostasis| |ion homeostasis| |exocytosis| |cellular homeostasis| |response to hormone| |carboxylic acid metabolic process| |regulation of cellular localization| |animal organ morphogenesis| |cellular lipid metabolic process| |sensory perception| |Golgi apparatus| |response to organonitrogen compound| |oxoacid metabolic process| |secretion by cell| |endoplasmic reticulum| |organic acid metabolic process| |export from cell| |cellular response to oxygen-containing compound| |identical protein binding| |response to nitrogen compound| |chemical homeostasis| |epithelium development| |cell-cell signaling| |secretion| |aromatic compound biosynthetic process| |lipid metabolic process| |cellular response to endogenous stimulus| |regulation of organelle organization| |organic cyclic compound biosynthetic process| |locomotion| |nervous system process| |RNA binding| |response to endogenous stimulus| |ATP binding| |protein transport| |intracellular transport| |peptide transport| |movement of cell or subcellular component| |response to oxygen-containing compound| |amide transport| |cellular protein localization| |cellular macromolecule localization| |establishment of protein localization| |homeostatic process| |small molecule metabolic process| |tissue development| |regulation of intracellular signal transduction| |establishment of localization in cell| |nitrogen compound transport| |regulation of transport| |vesicle-mediated transport| |system process| |membrane| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 10884 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.23 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='MYO5A Expression in NALM6 Cells: 6.23'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1