Reactome | UniProt:O95477 ABCA1

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UniProt:O95477 ABCA1 Show undefined attributes

chain	chain:1-2261
checksum	21A2CF8F3F518D6D
comment	FUNCTION Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981, PubMed:35974019). Thereby, participates in phospholipid transfer to apolipoproteins to form nascent high density lipoproteins/HDLs (PubMed:14754908). Transports preferentially phosphatidylcholine over phosphatidylserine (PubMed:24097981). May play a similar role in the efflux of intracellular cholesterol to apolipoproteins and the formation of nascent high density lipoproteins/HDLs (PubMed:10533863, PubMed:14754908, PubMed:24097981, PubMed:35974019). Translocates phospholipids from the outer face of the plasma membrane and forces it through its gateway and annulus into an elongated hydrophobic tunnel in its extracellular domain (PubMed:35974019).CATALYTIC ACTIVITY ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.CATALYTIC ACTIVITY a 1,2-diacyl-sn-glycero-3-phosphocholine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphocholine(in) + ADP + phosphate + H(+)CATALYTIC ACTIVITY a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) + ADP + phosphate + H(+)CATALYTIC ACTIVITY a sphingomyelin(in) + ATP + H2O = a sphingomyelin(out) + ADP + phosphate + H(+)CATALYTIC ACTIVITY cholesterol(in) + ATP + H2O = cholesterol(out) + ADP + phosphate + H(+)ACTIVITY REGULATION ATPase activity is decreased by cholesterol and ceramide. ATPase activity is stimulated by phosphatidylcholine and to a lesser degree by phosphatidylserine and sphingomyelin. Phospholipid translocase activity is highly reduced by berylium fluoride and aluminum flouride and reduced by N-ethylmaleimide.SUBUNIT Interacts with MEGF10 (PubMed:17205124). May interact with APOE1; functionally associated with APOE1 in the biogenesis of HDLs (PubMed:14754908). Interacts with ABCA8; this interaction potentiates cholesterol efflux (PubMed:28882873). Interacts with ABCA12 and NR1H2; this interaction is required for ABCA1 localization to the cell surface and is necessary for its normal activity and stability (PubMed:23931754).INTERACTION Widely expressed, but most abundant in macrophages.INDUCTION By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR) -independent mechanism. Repressed by ZNF202.DOMAIN Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.PTM Phosphorylation on Ser-2054 regulates phospholipid efflux.PTM Palmitoylated by ZDHHC8 (PubMed:19556522). Palmitoylation is essential for localization to the plasma membrane (PubMed:19556522).POLYMORPHISM Genetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIM:600046].DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the ABC transporter superfamily. ABCA family.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.ONLINE INFORMATION Database for mutations in ABC proteins
crossReference	[DatabaseIdentifier:11796634] GeneCards:ABCA1 [DatabaseIdentifier:12349080] RefSeq:NP_005493.2 [DatabaseIdentifier:12294462] Pharos - Targets:O95477 [DatabaseIdentifier:12256868] PRO:O95477 [DatabaseIdentifier:12233803] PDB:7TBY [DatabaseIdentifier:12233802] PDB:5XJY [DatabaseIdentifier:12233800] PDB:7TDT [DatabaseIdentifier:12233804] PDB:7TBZ [DatabaseIdentifier:12233798] PDB:7TC0 [DatabaseIdentifier:12233801] PDB:7TBW [DatabaseIdentifier:12233799] PDB:7ROQ [DatabaseIdentifier:12137737] Orphanet:ABCA1 [DatabaseIdentifier:12134299] OpenTargets:ENSG00000165029 [DatabaseIdentifier:11850054] IntEnz:7.6.2.1 [DatabaseIdentifier:11849602] HPA:ENSG00000165029-ABCA1 [DatabaseIdentifier:11833846] HMDB Protein:HMDBP01618 [DatabaseIdentifier:11812408] GlyGen:O95477 [DatabaseIdentifier:11464170] ENSEMBL:ENSG00000165029 [DatabaseIdentifier:11559024] ENSEMBL:ENSP00000363868 [DatabaseIdentifier:11681723] ENSEMBL:ENST00000374736 [DatabaseIdentifier:11780638] Guide to Pharmacology - Targets:756
databaseName	UniProt
dbId	49412
description	recommendedName: fullName evidence="55"Phospholipid-transporting ATPase ABCA1 ecNumber evidence="50"7.6.2.1 alternativeName: ATP-binding cassette sub-family A member 1 alternativeName: ATP-binding cassette transporter 1 shortName: ABC-1 shortName: ATP-binding cassette 1 alternativeName: Cholesterol efflux regulatory protein
displayName	UniProt:O95477 ABCA1
geneName	ABCA1 ABC1 CERP
identifier	O95477
isSequenceChanged	false
keyword	3D-structure Atherosclerosis ATP-binding Cell membrane Cholesterol metabolism Disease variant Disulfide bond Endosome Glycoprotein Lipid metabolism Lipoprotein Membrane Nucleotide-binding Palmitate Phosphoprotein Proteomics identification Reference proteome Repeat Steroid metabolism Sterol metabolism Translocase Transmembrane Transmembrane helix Transport
modified	[InstanceEdit:9948485] Weiser, Joel, 2025-05-21
moleculeType	Protein
name	ABCA1
otherIdentifier	11739502_a_at 11739503_at 1570279_PM_at 1570279_at 17096728 19 203504_PM_s_at 203504_s_at 203505_PM_at 216066_PM_at 216066_at 31998_at 32000_g_at 3218529 3218530 3218531 3218532 3218533 3218535 3218537 3218538 3218539 3218543 3218544 3218545 3218547 3218548 3218549 3218552 3218553 3218554 3218557 3218558 3218559 3218560 3218563 3218564 3218566 3218567 3218568 3218570 3218574 3218575 3218576 3218578 3218579 3218582 3218583 3218584 3218585 3218586 3218587 3218588 3218589 3218590 3218591 3218594 3218595 3218596 3218597 3218598 3218604 3218606 3218608 3218609 3218612 3218617 3218618 3218620 3218622 3218623 3218624 3218628 3218629 3218633 3218639 3218640 3218655 3218656 3218657 52656_s_at 60496_r_at 78253_r_at 8162940 A_23_P216649 A_24_P235429 A_24_P289265 A_33_P3422897 GE61476 GO:0000166 GO:0002790 GO:0005102 GO:0005215 GO:0005515 GO:0005524 GO:0005548 GO:0005768 GO:0005789 GO:0005794 GO:0005886 GO:0006629 GO:0006911 GO:0007040 GO:0007186 GO:0007189 GO:0007584 GO:0008035 GO:0008202 GO:0008203 GO:0008289 GO:0008320 GO:0009306 GO:0009410 GO:0009897 GO:0009986 GO:0010745 GO:0010875 GO:0010887 GO:0015485 GO:0015850 GO:0015914 GO:0016020 GO:0016192 GO:0016197 GO:0016323 GO:0016787 GO:0016887 GO:0019905 GO:0023061 GO:0030139 GO:0030301 GO:0031210 GO:0031267 GO:0031410 GO:0031667 GO:0032367 GO:0032489 GO:0033344 GO:0033552 GO:0033700 GO:0034185 GO:0034186 GO:0034188 GO:0034380 GO:0034616 GO:0038024 GO:0038027 GO:0042157 GO:0042158 GO:0042626 GO:0042632 GO:0043226 GO:0043691 GO:0045121 GO:0045332 GO:0045335 GO:0046623 GO:0048471 GO:0051117 GO:0051649 GO:0055085 GO:0055091 GO:0060155 GO:0061024 GO:0065003 GO:0071222 GO:0071300 GO:0071345 GO:0071397 GO:0071404 GO:0071466 GO:0071806 GO:0090107 GO:0090108 GO:0090554 GO:0090556 GO:0097708 GO:0099039 GO:0120020 GO:0140115 GO:0140326 GO:0140328 GO:0140359 GO:0140657 HMNXSV003009990 HMNXSV003017214 HMNXSV003051456 Hs.211562.1.S1_3p_at Hs2.407188.1.S1_3p_at ILMN_1766054 PH_hs_0022625 TC09001434.hg g5915657_3p_a_at g9755158_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-194209] ABCA1 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5682069] 4xPALM-C-p-2S-ABCA1 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5682085] 4xPALM-C-ABCA1 [endoplasmic reticulum membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5682091] 4xPALM-C-ABCA1 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5682105] ABCA1 [endoplasmic reticulum membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5682199] ABCA1 Q537R [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5682197] ABCA1 R587W [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5682195] ABCA1 S1446L [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5682190] ABCA1 C1417R [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5682200] ABCA1 N935S [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5682201] ABCA1 W590S [plasma membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000165029] ENSEMBL:ENSG00000165029 ABCA1 [ReferenceDNASequence:12733531] UCSC:O95477 ABCA1 [ReferenceDNASequence:12118485] OMIM:600046 ABCA1 [ReferenceDNASequence:12042344] NCBI Gene:19 ABCA1 [ReferenceDNASequence:11958251] Monarch:19 ABCA1 [ReferenceDNASequence:11870633] KEGG:hsa:19 ABCA1 [ReferenceDNASequence:11828344] HGNC:29 ABCA1 [ReferenceDNASequence:11328462] BioGPS Gene:19 ABCA1 [ReferenceDNASequence:11398872] COSMIC - genes:ABCA1 ABCA1 [ReferenceDNASequence:11425902] CTD Gene:19 ABCA1 [ReferenceDNASequence:11435758] dbSNP Gene:19 ABCA1
referenceTranscript	[ReferenceRNASequence:12530937] RefSeq:NM_005502.3 ABCA1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	ABCA1_HUMAN Q5VX33 Q96S56 Q96T85 Q9NQV4 Q9UN06 Q9UN07 Q9UN08 Q9UN09
sequenceLength	2261
species	[Species:48887] Homo sapiens
stId	uniprot:O95477
url	http://purl.uniprot.org/uniprot/O95477

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-194209] ABCA1 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5682069] 4xPALM-C-p-2S-ABCA1 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5682085] 4xPALM-C-ABCA1 [endoplasmic reticulum membrane] [EntityWithAccessionedSequence:R-HSA-5682091] 4xPALM-C-ABCA1 [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5682105] ABCA1 [endoplasmic reticulum membrane] [EntityWithAccessionedSequence:R-HSA-5682199] ABCA1 Q537R [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5682197] ABCA1 R587W [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5682195] ABCA1 S1446L [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5682190] ABCA1 C1417R [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5682200] ABCA1 N935S [plasma membrane] [EntityWithAccessionedSequence:R-HSA-5682201] ABCA1 W590S [plasma membrane]
(referenceSequence)	[ModifiedResidue:5682086] S-palmitoyl-L-cysteine at 3 [ModifiedResidue:5682098] O-phospho-L-serine at 2054 [ModifiedResidue:5682080] S-palmitoyl-L-cysteine at 1110 [ModifiedResidue:5682061] S-palmitoyl-L-cysteine at 1111 [ModifiedResidue:5682106] S-palmitoyl-L-cysteine at 23 [ModifiedResidue:5682104] O-phospho-L-serine at 1042 [ReplacedResidue:5682192] L-glutamine 537 replaced with L-arginine [ReplacedResidue:5682202] L-arginine 587 replaced with L-tryptophan [ReplacedResidue:5682191] L-serine 1446 replaced with L-leucine [ReplacedResidue:5682198] L-cysteine 1417 replaced with L-arginine [ReplacedResidue:5682196] L-asparagine 935 replaced with L-serine [ReplacedResidue:5682189] L-tryptophan 590 replaced with L-serine
(interactor)	[UndirectedInteraction:11163057] UniProt:P46939 <-> UniProt:O95477 (IntAct) [UndirectedInteraction:11172877] UniProt:P60953 <-> UniProt:O95477 (IntAct) [UndirectedInteraction:11175479] UniProt:Q92796 <-> UniProt:O95477 (IntAct) [UndirectedInteraction:11199981] UniProt:O95477 <-> UniProt:Q13884 (IntAct) [UndirectedInteraction:11199983] UniProt:O95477 <-> UniProt:Q13424 (IntAct) [UndirectedInteraction:11199985] UniProt:O95477 <-> UniProt:P02647 (IntAct) [UndirectedInteraction:11199987] UniProt:O95477 <-> UniProt:Q9HAP6 (IntAct) [UndirectedInteraction:11199989] UniProt:O95477 <-> UniProt:Q15700 (IntAct) [UndirectedInteraction:11199991] UniProt:O95477 <-> UniProt:O75970 (IntAct) [UndirectedInteraction:11199993] UniProt:O95477 <-> UniProt:O15085 (IntAct) [UndirectedInteraction:11199995] UniProt:O95477 <-> UniProt:Q86UK0 (IntAct) [UndirectedInteraction:11199997] UniProt:O95477 <-> UniProt:P27824 (IntAct) [UndirectedInteraction:11199999] UniProt:O95477 <-> UniProt:Q86Y82 (IntAct) [UndirectedInteraction:11200001] UniProt:O95477 <-> UniProt:Q13425 (IntAct) [UndirectedInteraction:11200003] UniProt:O95477 <-> UniProt:O75955 (IntAct)