Entity Details

Primary name MYO9A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionB2RTY4
EntryNameMYO9A_HUMAN
FullNameUnconventional myosin-IXa
TaxID9606
Evidenceevidence at protein level
Length2548
SequenceStatuscomplete
DateCreated2008-09-02
DateModified2021-06-02

Ontological Relatives

GenesMYO9A

GO terms

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GOName
GO:0003774 cytoskeletal motor activity
GO:0003779 actin binding
GO:0005096 GTPase activator activity
GO:0005524 ATP binding
GO:0005829 cytosol
GO:0007601 visual perception
GO:0016021 integral component of membrane
GO:0016461 unconventional myosin complex
GO:0034329 cell junction assembly
GO:0035556 intracellular signal transduction
GO:0043547 positive regulation of GTPase activity
GO:0044295 axonal growth cone
GO:0045198 establishment of epithelial cell apical/basal polarity
GO:0045202 synapse
GO:0046872 metal ion binding
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0150011 regulation of neuron projection arborization

Subcellular Location

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Subcellular Location
Cell junction
Cell projection
Cytoplasm
Membrane

Domains

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DomainNameCategoryType
IPR000048 IQ motif, EF-hand binding siteSiteBinding site
IPR000159 Ras-associating (RA) domainDomainDomain
IPR000198 Rho GTPase-activating protein domainDomainDomain
IPR001609 Myosin head, motor domainDomainDomain
IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domainDomainDomain
IPR008936 Rho GTPase activation proteinFamilyHomologous superfamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR028558 Unconventional myosin-IXaFamilyFamily
IPR029071 Ubiquitin-like domain superfamilyFamilyHomologous superfamily
IPR036023 Class IX myosin, motor domainDomainDomain
IPR036961 Kinesin motor domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618198 OMIMMyasthenic syndrome, congenital, 24, presynaptic (CMS24)A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS24 inheritance is autosomal recessive. The disease may be caused by variants affecting the gene represented in this entry.