Entity Details

Primary name ABCA1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO95477
EntryNameABCA1_HUMAN
FullNamePhospholipid-transporting ATPase ABCA1
TaxID9606
Evidenceevidence at protein level
Length2261
SequenceStatuscomplete
DateCreated2000-12-01
DateModified2021-06-02

Ontological Relatives

GenesABCA1

GO terms

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GOName
GO:0005102 signaling receptor binding
GO:0005319 lipid transporter activity
GO:0005524 ATP binding
GO:0005548 phospholipid transporter activity
GO:0005768 endosome
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006869 lipid transport
GO:0007040 lysosome organization
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway
GO:0008203 cholesterol metabolic process
GO:0008320 protein transmembrane transporter activity
GO:0009306 protein secretion
GO:0010745 negative regulation of macrophage derived foam cell differentiation
GO:0010875 positive regulation of cholesterol efflux
GO:0010887 negative regulation of cholesterol storage
GO:0015485 cholesterol binding
GO:0016197 endosomal transport
GO:0019222 regulation of metabolic process
GO:0019905 syntaxin binding
GO:0023061 signal release
GO:0030139 endocytic vesicle
GO:0030522 intracellular receptor signaling pathway
GO:0031210 phosphatidylcholine binding
GO:0031267 small GTPase binding
GO:0032367 intracellular cholesterol transport
GO:0032489 regulation of Cdc42 protein signal transduction
GO:0033344 cholesterol efflux
GO:0033700 phospholipid efflux
GO:0034185 apolipoprotein binding
GO:0034186 apolipoprotein A-I binding
GO:0034188 apolipoprotein A-I receptor activity
GO:0034380 high-density lipoprotein particle assembly
GO:0034616 response to laminar fluid shear stress
GO:0042626 ATPase-coupled transmembrane transporter activity
GO:0042632 cholesterol homeostasis
GO:0043231 intracellular membrane-bounded organelle
GO:0043691 reverse cholesterol transport
GO:0045121 membrane raft
GO:0045332 phospholipid translocation
GO:0045335 phagocytic vesicle
GO:0046623 sphingolipid floppase activity
GO:0048471 perinuclear region of cytoplasm
GO:0051117 ATPase binding
GO:0055091 phospholipid homeostasis
GO:0060155 platelet dense granule organization
GO:0071404 cellular response to low-density lipoprotein particle stimulus
GO:0071806 protein transmembrane transport
GO:0090107 regulation of high-density lipoprotein particle assembly
GO:0090108 positive regulation of high-density lipoprotein particle assembly
GO:0090554 phosphatidylcholine floppase activity
GO:0090556 phosphatidylserine floppase activity
GO:0097708 intracellular vesicle
GO:0120020 cholesterol transfer activity
GO:0140115 export across plasma membrane
GO:0140328 floppase activity

Subcellular Location

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Subcellular Location
Cell membrane
Endosome

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
IPR030365 ATP-binding cassette subfamily A member 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
604091 OMIMHypoalphalipoproteinemia, primary, 1 (FHA1)An autosomal dominant disorder characterized by decreased plasma high density lipoproteins, moderately low HDL cholesterol, a reduction in cellular cholesterol efflux, and susceptibility to premature coronary artery disease. The disease is caused by variants affecting the gene represented in this entry.
205400 OMIMTangier disease (TGD)An autosomal recessive disorder characterized by near absence of plasma high density lipoproteins, low serum HDL cholesterol, and massive tissue deposition of cholesterol esters. Clinical features include large yellow-orange tonsils, hepatomegaly, splenomegaly, enlarged lymph nodes, and often sensory polyneuropathy. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00163 Vitamin EDrugbanksmall molecule
DB00171 ATPDrugbanksmall molecule
DB00675 TamoxifenDrugbanksmall molecule
DB01016 GlyburideDrugbanksmall molecule
DB01599 ProbucolDrugbanksmall molecule
DB11635 TocofersolanDrugbanksmall molecule

Interactions

52 interactions

InteractorPartnerSourcesPublicationsLink
ABCA1_HUMANSNTB2_HUMANBioGRID, HPRD, IntAct, MINT12054535 16192269 details
ABCA1_HUMANSNTB1_HUMANHPRD, IntAct16192269 16192270 16192292 details
ABCA1_HUMANSNTA1_HUMANHPRD, IntAct14722086 16192269 16192274 details
ABCA1_HUMANDLG3_HUMANHPRD, IntAct16192269 16192271 details
ABCA1_HUMANARHGB_HUMANHPRD, IntAct16192269 16192272 details
ABCA1_HUMANARHGC_HUMANHPRD, IntAct16192269 16192274 details
ABCA1_HUMANMPDZ_HUMANHPRD, IntAct16192269 details
ABCA1_HUMANDLG2_HUMANHPRD, IntAct16192269 16192276 details
ABCA1_HUMANLIN7B_HUMANHPRD, IntAct16192269 16192277 details
ABCA1_HUMANNEMO_HUMANBioGRID, IntAct21988832 details
ABCA1_HUMANTGM2_HUMANBioGRID, IntAct21988832 details
ABCA1_HUMANAPOA1_HUMANbhf-ucl, BioGRID, HPRD, IntAct12084722 27017521 30458687 details
ABCA1_HUMANFADD_HUMANBioGRID, HPRD12235128 details
ABCA1_HUMANUGPA_HUMANBioGRID, HPRD12054535 details
ABCA1_HUMANSDHB_HUMANBioGRID, HPRD12054535 details
ABCA1_HUMANAOXA_HUMANBioGRID, HPRD12054535 details
ABCA1_HUMANPRP8_HUMANBioGRID12054535 details
ABCA1_HUMANCSK22_HUMANBioGRID15218032 details
ABCA1_HUMANLNX1_HUMANBioGRID22889411 details
ABCA1_HUMANATX10_HUMANBioGRID16498633 details
ABCA1_HUMANERBIN_HUMANBioGRID15123239 details
ABCA1_HUMANTRI27_HUMANHPRD12054535 details
ABCA1_HUMANS2534_HUMANHPRD12054535 details
ABCA1_HUMANCDC42_HUMANbhf-ucl, BioGRID16443932 details
ABCA1_HUMANSTX12_HUMANbhf-ucl, BioGRID15469992 details
ABCA1_HUMANFLOT1_HUMANbhf-ucl, BioGRID15469992 details
ABCA1_HUMANABCAC_HUMANbhf-ucl23931754 details
ABCA1_HUMANNR1H2_HUMANbhf-ucl, BioGRID20951680 23931754 25838426 details
ABCA1_HUMANCALX_HUMANDIP25170080 details
ABCA1_HUMANSPTC1_HUMANBioGRID, DIP, HPRD18484747 25170080 details
ABCA1_HUMANDISC1_HUMANIntAct31413325 details
ABCA1_HUMANHGS_HUMANBioGRID21520210 details
ABCA1_HUMANCSN5_HUMANBioGRID19268428 details
ABCA1_HUMANCSN2_HUMANBioGRID19268428 27017521 details
ABCA1_HUMANTF65_HUMANBioGRID25331947 details
ABCA1_HUMANKAPCA_HUMANHPRD12196520 details
ABCA1_HUMANCSK21_HUMANHPRD15218032 details
ABCA1_HUMANPLTP_HUMANHPRD14559902 details
ABCA1_HUMANLIN7C_HUMANHPRD16192275 details
ABCA1_HUMANLIN7A_HUMANHPRD14722086 16192278 details
ABCA1_HUMANSHAN1_HUMANHPRD16192279 details
ABCA1_HUMANDLG5_HUMANHPRD16192281 details
ABCA1_HUMANNHRF3_HUMANHPRD16192282 details
ABCA1_HUMANLIMK1_HUMANHPRD16192283 details
ABCA1_HUMANGOPC_HUMANHPRD16192284 details
ABCA1_HUMANLMO7_HUMANHPRD16192285 details
ABCA1_HUMANPDLI4_HUMANHPRD16192286 details
ABCA1_HUMANTIAM1_HUMANHPRD16192287 details
ABCA1_HUMANRPGF6_HUMANHPRD16192288 details
ABCA1_HUMANRIMS2_HUMANHPRD16192289 details
ABCA1_HUMANPALS2_HUMANHPRD16192290 details
ABCA1_HUMANPDLI3_HUMANHPRD16192291 details