Entity Details

Primary name ACTA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP62736
EntryNameACTA_HUMAN
FullNameActin, aortic smooth muscle
TaxID9606
Evidenceevidence at protein level
Length377
SequenceStatuscomplete
DateCreated1986-10-23
DateModified2021-06-02

Ontological Relatives

GenesACTA2

GO terms

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GOName
GO:0005524 ATP binding
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005869 dynactin complex
GO:0006936 muscle contraction
GO:0008217 regulation of blood pressure
GO:0009615 response to virus
GO:0010628 positive regulation of gene expression
GO:0014829 vascular associated smooth muscle contraction
GO:0019901 protein kinase binding
GO:0030027 lamellipodium
GO:0030175 filopodium
GO:0030485 smooth muscle contractile fiber
GO:0032991 protein-containing complex
GO:0044297 cell body
GO:0045893 positive regulation of transcription, DNA-templated
GO:0070062 extracellular exosome
GO:0072144 glomerular mesangial cell development
GO:0090131 mesenchyme migration

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR004000 Actin familyFamilyFamily
IPR004001 Actin, conserved siteSiteConserved site
IPR020902 Actin/actin-like conserved siteSiteConserved site
IPR043129 ATPase, nucleotide binding domainFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613834 OMIMMultisystemic smooth muscle dysfunction syndrome (MSMDS)A syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. The disease is caused by variants affecting the gene represented in this entry.
614042 OMIMMoyamoya disease 5 (MYMY5)A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. The disease is caused by variants affecting the gene represented in this entry.
611788 OMIMAortic aneurysm, familial thoracic 6 (AAT6)A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB12695 Phenethyl IsothiocyanateDrugbanksmall molecule