Entity Details

Primary name ABCA3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ99758
EntryNameABCA3_HUMAN
FullNamePhospholipid-transporting ATPase ABCA3
TaxID9606
Evidenceevidence at protein level
Length1704
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesABCA3

GO terms

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GOName
GO:0005319 lipid transporter activity
GO:0005524 ATP binding
GO:0005615 extracellular space
GO:0005765 lysosomal membrane
GO:0005770 late endosome
GO:0005886 plasma membrane
GO:0006855 drug transmembrane transport
GO:0006869 lipid transport
GO:0008559 ABC-type xenobiotic transporter activity
GO:0010875 positive regulation of cholesterol efflux
GO:0015914 phospholipid transport
GO:0016021 integral component of membrane
GO:0016887 ATP hydrolysis activity
GO:0030324 lung development
GO:0030659 cytoplasmic vesicle membrane
GO:0032464 positive regulation of protein homooligomerization
GO:0032585 multivesicular body membrane
GO:0042493 response to drug
GO:0042599 lamellar body
GO:0042626 ATPase-coupled transmembrane transporter activity
GO:0042908 xenobiotic transport
GO:0043129 surfactant homeostasis
GO:0043231 intracellular membrane-bounded organelle
GO:0044267 cellular protein metabolic process
GO:0046470 phosphatidylcholine metabolic process
GO:0046471 phosphatidylglycerol metabolic process
GO:0046618 drug export
GO:0046890 regulation of lipid biosynthetic process
GO:0051384 response to glucocorticoid
GO:0055091 phospholipid homeostasis
GO:0070925 organelle assembly
GO:0097208 alveolar lamellar body
GO:0097232 lamellar body membrane
GO:0097233 alveolar lamellar body membrane
GO:0120019 phosphatidylcholine transfer activity
GO:0140345 phosphatidylcholine flippase activity
GO:0150172 regulation of phosphatidylcholine metabolic process
GO:1902995 positive regulation of phospholipid efflux
GO:2001140 positive regulation of phospholipid transport

Subcellular Location

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Subcellular Location
Cytoplasmic vesicle membrane
Endosome
Late endosome membrane
Lysosome membrane

Domains

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DomainNameCategoryType
IPR003439 ABC transporter-like, ATP-binding domainDomainDomain
IPR003593 AAA+ ATPase domainDomainDomain
IPR017871 ABC transporter-like, conserved siteSiteConserved site
IPR026082 ABC transporter AFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
610921 OMIMPulmonary surfactant metabolism dysfunction 3 (SMDP3)A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00619 ImatinibDrugbanksmall molecule

Interactions

4 interactions