Entity Details

Primary name VATA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP38606
EntryNameVATA_HUMAN
FullNameV-type proton ATPase catalytic subunit A
TaxID9606
Evidenceevidence at protein level
Length617
SequenceStatuscomplete
DateCreated1994-10-01
DateModified2021-06-02

Ontological Relatives

GenesATP6V1A

GO terms

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GOName
GO:0005524 ATP binding
GO:0005654 nucleoplasm
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0006879 cellular iron ion homeostasis
GO:0008286 insulin receptor signaling pathway
GO:0016241 regulation of macroautophagy
GO:0016324 apical plasma membrane
GO:0016469 proton-transporting two-sector ATPase complex
GO:0016887 ATP hydrolysis activity
GO:0033180 proton-transporting V-type ATPase, V1 domain
GO:0033572 transferrin transport
GO:0034198 cellular response to amino acid starvation
GO:0034220 ion transmembrane transport
GO:0036295 cellular response to increased oxygen levels
GO:0043231 intracellular membrane-bounded organelle
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism
GO:0046961 proton-transporting ATPase activity, rotational mechanism
GO:0070062 extracellular exosome
GO:0090383 phagosome acidification
GO:1902600 proton transmembrane transport

Subcellular Location

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Subcellular Location
Cytoplasm
Cytoplasmic vesicle

Domains

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DomainNameCategoryType
IPR000194 ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domainDomainDomain
IPR004100 ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domainDomainDomain
IPR005725 ATPase, V1 complex, subunit AFamilyFamily
IPR020003 ATPase, alpha/beta subunit, nucleotide-binding domain, active siteSiteActive site
IPR022878 V-type ATP synthase catalytic alpha chainFamilyFamily
IPR023366 ATP synthase subunit alpha, N-terminal domain-like superfamilyFamilyHomologous superfamily
IPR024034 ATPase, F1/V1 complex, beta/alpha subunit, C-terminalFamilyHomologous superfamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR031686 ATPsynthase alpha/beta subunit, N-terminal extensionDomainDomain
IPR036121 ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618012 OMIMEpileptic encephalopathy, infantile or early childhood, 3 (IECEE3)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE3 is an autosomal dominant form characterized by onset of seizures in the first years of life.The severity of the phenotype is highly variable: some patients may be non-verbal and non-ambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability. The disease is caused by variants affecting the gene represented in this entry.
617403 OMIMCutis laxa, autosomal recessive, 2D (ARCL2D)A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00630 Alendronic acidDrugbanksmall molecule
DB01077 Etidronic acidDrugbanksmall molecule
DB01133 Tiludronic acidDrugbanksmall molecule
DB06733 Bafilomycin A1Drugbanksmall molecule
DB06734 Bafilomycin B1Drugbanksmall molecule