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Protein

ATP-binding cassette sub-family A member 1

Gene

ABCA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi933 – 940ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1946 – 1953ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

  • anion transmembrane transporter activity Source: BHF-UCL
  • apolipoprotein A-I binding Source: BHF-UCL
  • apolipoprotein A-I receptor activity Source: BHF-UCL
  • apolipoprotein binding Source: BHF-UCL
  • ATPase activity Source: BHF-UCL
  • ATPase activity, coupled to transmembrane movement of substances Source: GO_Central
  • ATPase binding Source: BHF-UCL
  • ATP binding Source: BHF-UCL
  • cholesterol binding Source: BHF-UCL
  • cholesterol transporter activity Source: BHF-UCL
  • phosphatidylcholine-translocating ATPase activity Source: BHF-UCL
  • phosphatidylserine-translocating ATPase activity Source: BHF-UCL
  • phospholipid binding Source: BHF-UCL
  • phospholipid transporter activity Source: BHF-UCL
  • receptor binding Source: BHF-UCL
  • small GTPase binding Source: BHF-UCL
  • syntaxin binding Source: BHF-UCL

GO - Biological processi

  • cellular response to cholesterol Source: Ensembl
  • cellular response to lipopolysaccharide Source: Ensembl
  • cellular response to retinoic acid Source: Ensembl
  • cholesterol efflux Source: BHF-UCL
  • cholesterol homeostasis Source: BHF-UCL
  • cholesterol metabolic process Source: BHF-UCL
  • endosomal transport Source: BHF-UCL
  • G-protein coupled receptor signaling pathway Source: BHF-UCL
  • high-density lipoprotein particle assembly Source: BHF-UCL
  • interleukin-1 beta secretion Source: BHF-UCL
  • intracellular cholesterol transport Source: BHF-UCL
  • lipoprotein metabolic process Source: Reactome
  • lysosome organization Source: BHF-UCL
  • negative regulation of cholesterol storage Source: BHF-UCL
  • negative regulation of macrophage derived foam cell differentiation Source: BHF-UCL
  • peptide secretion Source: Ensembl
  • phagocytosis, engulfment Source: Ensembl
  • phospholipid efflux Source: BHF-UCL
  • phospholipid homeostasis Source: BHF-UCL
  • phospholipid translocation Source: BHF-UCL
  • platelet dense granule organization Source: BHF-UCL
  • positive regulation of cAMP biosynthetic process Source: BHF-UCL
  • positive regulation of cholesterol efflux Source: BHF-UCL
  • protein lipidation Source: Ensembl
  • regulation of Cdc42 protein signal transduction Source: BHF-UCL
  • regulation of high-density lipoprotein particle assembly Source: BHF-UCL
  • response to drug Source: Ensembl
  • response to laminar fluid shear stress Source: BHF-UCL
  • response to low-density lipoprotein particle Source: BHF-UCL
  • response to nutrient Source: Ensembl
  • reverse cholesterol transport Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Cholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism, Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165029-MONOMER.
ReactomeiR-HSA-194223. HDL-mediated lipid transport.
R-HSA-1989781. PPARA activates gene expression.
SignaLinkiO95477.
SIGNORiO95477.

Protein family/group databases

TCDBi3.A.1.211.14. the atp-binding cassette (abc) superfamily.

Chemistry databases

SwissLipidsiSLP:000000345.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family A member 1
Alternative name(s):
ATP-binding cassette transporter 1
Short name:
ABC-1
Short name:
ATP-binding cassette 1
Cholesterol efflux regulatory protein
Gene namesi
Name:ABCA1
Synonyms:ABC1, CERP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:29. ABCA1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei22 – 42HelicalSequence analysisAdd BLAST21
Topological domaini43 – 639ExtracellularAdd BLAST597
Transmembranei640 – 660HelicalSequence analysisAdd BLAST21
Transmembranei683 – 703HelicalSequence analysisAdd BLAST21
Transmembranei716 – 736HelicalSequence analysisAdd BLAST21
Transmembranei745 – 765HelicalSequence analysisAdd BLAST21
Transmembranei777 – 797HelicalSequence analysisAdd BLAST21
Transmembranei827 – 847HelicalSequence analysisAdd BLAST21
Transmembranei1041 – 1057HelicalSequence analysisAdd BLAST17
Transmembranei1351 – 1371HelicalSequence analysisAdd BLAST21
Topological domaini1372 – 1656ExtracellularAdd BLAST285
Transmembranei1657 – 1677HelicalSequence analysisAdd BLAST21
Transmembranei1703 – 1723HelicalSequence analysisAdd BLAST21
Transmembranei1735 – 1755HelicalSequence analysisAdd BLAST21
Transmembranei1768 – 1788HelicalSequence analysisAdd BLAST21
Transmembranei1802 – 1822HelicalSequence analysisAdd BLAST21
Transmembranei1852 – 1872HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • endocytic vesicle Source: BHF-UCL
  • endoplasmic reticulum membrane Source: Reactome
  • external side of plasma membrane Source: Ensembl
  • Golgi apparatus Source: Ensembl
  • high-density lipoprotein particle Source: Ensembl
  • integral component of plasma membrane Source: BHF-UCL
  • membrane raft Source: BHF-UCL
  • perinuclear region of cytoplasm Source: BHF-UCL
  • phagocytic vesicle Source: BHF-UCL
  • plasma membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

High density lipoprotein deficiency 1 (HDLD1)18 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRecessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness.
See also OMIM:205400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012620255A → T in HDLD1; deficient cellular cholesterol efflux. 1 PublicationCorresponds to variant rs758100110dbSNPEnsembl.1
Natural variantiVAR_062482284E → K in HDLD1. 1 Publication1
Natural variantiVAR_062485482Y → C in HDLD1. 1 Publication1
Natural variantiVAR_009146587R → W in HDLD1. 1 PublicationCorresponds to variant rs2853574dbSNPEnsembl.1
Natural variantiVAR_062487590W → L in HDLD1. 2 PublicationsCorresponds to variant rs137854496dbSNPEnsembl.1
Natural variantiVAR_009147590W → S in HDLD1. 2 PublicationsCorresponds to variant rs137854496dbSNPEnsembl.1
Natural variantiVAR_009148597Q → R in HDLD1. 2 PublicationsCorresponds to variant rs2853578dbSNPEnsembl.1
Natural variantiVAR_062491840W → R in HDLD1. 1 Publication1
Natural variantiVAR_012626929T → I in HDLD1. 1 Publication1
Natural variantiVAR_037968935N → H in HDLD1. 1 PublicationCorresponds to variant rs28937314dbSNPEnsembl.1
Natural variantiVAR_009150935N → S in HDLD1. 2 PublicationsCorresponds to variant rs28937313dbSNPEnsembl.1
Natural variantiVAR_009151937A → V in HDLD1. 1 PublicationCorresponds to variant rs137854495dbSNPEnsembl.1
Natural variantiVAR_0126271046A → D in HDLD1. 1 PublicationCorresponds to variant rs141021096dbSNPEnsembl.1
Natural variantiVAR_0624931068R → C in HDLD1. 1 PublicationCorresponds to variant rs745593394dbSNPEnsembl.1
Natural variantiVAR_0091521289D → N in HDLD1. 2 PublicationsCorresponds to variant rs137854500dbSNPEnsembl.1
Natural variantiVAR_0624971379L → F in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. 1 Publication1
Natural variantiVAR_0091531477C → R in HDLD1. 2 PublicationsCorresponds to variant rs137854494dbSNPEnsembl.1
Natural variantiVAR_0126301506S → L in HDLD1. 1 PublicationCorresponds to variant rs137854497dbSNPEnsembl.1
Natural variantiVAR_0091541517I → R in HDLD1. 1
Natural variantiVAR_0379701680R → W in HDLD1. 1 PublicationCorresponds to variant rs137854498dbSNPEnsembl.1
Natural variantiVAR_0625011704V → D in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. 1 Publication1
Natural variantiVAR_0091551800N → H in HDLD1. 4 PublicationsCorresponds to variant rs146292819dbSNPEnsembl.1
Natural variantiVAR_0625021851R → Q in HDLD1. 1 Publication1
Natural variantiVAR_0625041901R → S in HDLD1. 1 Publication1
Natural variantiVAR_0126352081R → W in HDLD1. 1 PublicationCorresponds to variant rs137854501dbSNPEnsembl.1
Natural variantiVAR_0625072196Q → H in HDLD1. 1 PublicationCorresponds to variant rs564764153dbSNPEnsembl.1
High density lipoprotein deficiency 2 (HDLD2)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionInherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.
See also OMIM:604091
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01752985P → L in HDLD2; Alabama. 1 PublicationCorresponds to variant rs145183203dbSNPEnsembl.1
Natural variantiVAR_009149693Missing in HDLD2. 2 Publications1
Natural variantiVAR_0126281091M → T in HDLD2. 2 Publications1
Natural variantiVAR_0175301099D → Y in HDLD2. 1 PublicationCorresponds to variant rs28933692dbSNPEnsembl.1
Natural variantiVAR_0126341893 – 1894Missing in HDLD2. 2 Publications2
Natural variantiVAR_0625031897R → W in HDLD2; uncertain pathological significance. 1 PublicationCorresponds to variant rs760768125dbSNPEnsembl.1
Natural variantiVAR_0379712009F → S in HDLD2. 1 PublicationCorresponds to variant rs137854499dbSNPEnsembl.1
Natural variantiVAR_0126362150P → L in HDLD2. 1 PublicationCorresponds to variant rs369098049dbSNPEnsembl.1

Keywords - Diseasei

Atherosclerosis, Disease mutation

Organism-specific databases

DisGeNETi19.
MalaCardsiABCA1.
MIMi205400. phenotype.
600046. gene+phenotype.
604091. phenotype.
OpenTargetsiENSG00000165029.
Orphaneti425. Apolipoprotein A-I deficiency.
31150. Tangier disease.
PharmGKBiPA24373.

Chemistry databases

ChEMBLiCHEMBL2362986.
DrugBankiDB00171. Adenosine triphosphate.
DB01016. Glyburide.
DB01599. Probucol.

Polymorphism and mutation databases

BioMutaiABCA1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000932881 – 2261ATP-binding cassette sub-family A member 1Add BLAST2261

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi3S-palmitoyl cysteine1 Publication1
Glycosylationi14N-linked (GlcNAc...)Sequence analysis1
Lipidationi23S-palmitoyl cysteine1 Publication1
Disulfide bondi75 ↔ 3091 Publication
Glycosylationi98N-linked (GlcNAc...)1 Publication1
Glycosylationi151N-linked (GlcNAc...)Sequence analysis1
Glycosylationi161N-linked (GlcNAc...)Sequence analysis1
Glycosylationi196N-linked (GlcNAc...)Sequence analysis1
Glycosylationi244N-linked (GlcNAc...)1 Publication1
Glycosylationi292N-linked (GlcNAc...)Sequence analysis1
Glycosylationi337N-linked (GlcNAc...)Sequence analysis1
Glycosylationi349N-linked (GlcNAc...)Sequence analysis1
Glycosylationi400N-linked (GlcNAc...)Sequence analysis1
Glycosylationi478N-linked (GlcNAc...)Sequence analysis1
Glycosylationi489N-linked (GlcNAc...)Sequence analysis1
Glycosylationi521N-linked (GlcNAc...)Sequence analysis1
Glycosylationi820N-linked (GlcNAc...)Sequence analysis1
Modified residuei1042Phosphoserine; by PKA1 Publication1
Lipidationi1110S-palmitoyl cysteine1 Publication1
Lipidationi1111S-palmitoyl cysteine1 Publication1
Glycosylationi1144N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1294N-linked (GlcNAc...)Sequence analysis1
Modified residuei1296PhosphoserineBy similarity1
Glycosylationi1453N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1463 ↔ 14771 Publication
Glycosylationi1504N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1637N-linked (GlcNAc...)Sequence analysis1
Glycosylationi2044N-linked (GlcNAc...)Sequence analysis1
Modified residuei2054Phosphoserine; by PKA1 Publication1
Glycosylationi2238N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

Phosphorylation on Ser-2054 regulates phospholipid efflux.1 Publication
Palmitoylation by DHHC8 is essential for membrane localization.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

EPDiO95477.
MaxQBiO95477.
PaxDbiO95477.
PeptideAtlasiO95477.
PRIDEiO95477.

PTM databases

iPTMnetiO95477.
PhosphoSitePlusiO95477.
SwissPalmiO95477.

Expressioni

Tissue specificityi

Widely expressed, but most abundant in macrophages.

Inductioni

By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X receptor (LXR) -independent mechanism. Repressed by ZNF202.2 Publications

Gene expression databases

BgeeiENSG00000165029.
ExpressionAtlasiO95477. baseline and differential.
GenevisibleiO95477. HS.

Organism-specific databases

HPAiCAB069889.
HPA057283.

Interactioni

Subunit structurei

Interacts with MEGF10.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ABCA12Q86UK04EBI-784112,EBI-9541582
APOA1P026474EBI-784112,EBI-701692
CDC42P609532EBI-784112,EBI-81752
NR1H2P550552EBI-784112,EBI-745354
SNTA1Q134242EBI-784112,EBI-717191
SNTB1Q138843EBI-784112,EBI-295843
STX12Q86Y829EBI-784112,EBI-2691717

GO - Molecular functioni

  • apolipoprotein A-I binding Source: BHF-UCL
  • apolipoprotein binding Source: BHF-UCL
  • ATPase binding Source: BHF-UCL
  • receptor binding Source: BHF-UCL
  • small GTPase binding Source: BHF-UCL
  • syntaxin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi106537. 23 interactors.
DIPiDIP-29211N.
IntActiO95477. 23 interactors.
MINTiMINT-239561.
STRINGi9606.ENSP00000363868.

Structurei

3D structure databases

ProteinModelPortaliO95477.
SMRiO95477.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini899 – 1131ABC transporter 1PROSITE-ProRule annotationAdd BLAST233
Domaini1912 – 2144ABC transporter 2PROSITE-ProRule annotationAdd BLAST233

Domaini

Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.

Sequence similaritiesi

Contains 2 ABC transporter domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0059. Eukaryota.
COG1131. LUCA.
GeneTreeiENSGT00760000118965.
HOVERGENiHBG050436.
InParanoidiO95477.
KOiK05641.
OMAiKRMSEIC.
OrthoDBiEOG091G007E.
PhylomeDBiO95477.
TreeFamiTF105191.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR030365. ABCA1.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 6 hits.
PTHR19229:SF34. PTHR19229:SF34. 6 hits.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O95477-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE
60 70 80 90 100
QHECHFPNKA MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS
110 120 130 140 150
IVARLFSDAR RLLLYSQKDT SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD
160 170 180 190 200
NETFSGFLYH NLSLPKSTVD KMLRADVILH KVFLQGYQLH LTSLCNGSKS
210 220 230 240 250
EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL RTLNSTSPFP
260 270 280 290 300
SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI
310 320 330 340 350
YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS
360 370 380 390 400
TTPYCNDLMK NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN
410 420 430 440 450
KTFQELAVFH DLEGMWEELS PKIWTFMENS QEMDLVRMLL DSRDNDHFWE
460 470 480 490 500
QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS VYTWREAFNE TNQAIRTISR
510 520 530 540 550
FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG ITPGSIELPH
560 570 580 590 600
HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV
610 620 630 640 650
EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY
660 670 680 690 700
SVAVIIKGIV YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL
710 720 730 740 750
VVILKLGNLL PYSDPSVVFV FLSVFAVVTI LQCFLISTLF SRANLAAACG
760 770 780 790 800
GIIYFTLYLP YVLCVAWQDY VGFTLKIFAS LLSPVAFGFG CEYFALFEEQ
810 820 830 840 850
GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW YIEAVFPGQY
860 870 880 890 900
GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEICMEE EPTHLKLGVS
910 920 930 940 950
IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF
960 970 980 990 1000
PPTSGTAYIL GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL
1010 1020 1030 1040 1050
KGLSEKHVKA EMEQMALDVG LPSSKLKSKT SQLSGGMQRK LSVALAFVGG
1060 1070 1080 1090 1100
SKVVILDEPT AGVDPYSRRG IWELLLKYRQ GRTIILSTHH MDEADVLGDR
1110 1120 1130 1140 1150
IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS SCRNSSSTVS
1160 1170 1180 1190 1200
YLKKEDSVSQ SSSDAGLGSD HESDTLTIDV SAISNLIRKH VSEARLVEDI
1210 1220 1230 1240 1250
GHELTYVLPY EAAKEGAFVE LFHEIDDRLS DLGISSYGIS ETTLEEIFLK
1260 1270 1280 1290 1300
VAEESGVDAE TSDGTLPARR NRRAFGDKQS CLRPFTEDDA ADPNDSDIDP
1310 1320 1330 1340 1350
ESRETDLLSG MDGKGSYQVK GWKLTQQQFV ALLWKRLLIA RRSRKGFFAQ
1360 1370 1380 1390 1400
IVLPAVFVCI ALVFSLIVPP FGKYPSLELQ PWMYNEQYTF VSNDAPEDTG
1410 1420 1430 1440 1450
TLELLNALTK DPGFGTRCME GNPIPDTPCQ AGEEEWTTAP VPQTIMDLFQ
1460 1470 1480 1490 1500
NGNWTMQNPS PACQCSSDKI KKMLPVCPPG AGGLPPPQRK QNTADILQDL
1510 1520 1530 1540 1550
TGRNISDYLV KTYVQIIAKS LKNKIWVNEF RYGGFSLGVS NTQALPPSQE
1560 1570 1580 1590 1600
VNDAIKQMKK HLKLAKDSSA DRFLNSLGRF MTGLDTKNNV KVWFNNKGWH
1610 1620 1630 1640 1650
AISSFLNVIN NAILRANLQK GENPSHYGIT AFNHPLNLTK QQLSEVALMT
1660 1670 1680 1690 1700
TSVDVLVSIC VIFAMSFVPA SFVVFLIQER VSKAKHLQFI SGVKPVIYWL
1710 1720 1730 1740 1750
SNFVWDMCNY VVPATLVIII FICFQQKSYV SSTNLPVLAL LLLLYGWSIT
1760 1770 1780 1790 1800
PLMYPASFVF KIPSTAYVVL TSVNLFIGIN GSVATFVLEL FTDNKLNNIN
1810 1820 1830 1840 1850
DILKSVFLIF PHFCLGRGLI DMVKNQAMAD ALERFGENRF VSPLSWDLVG
1860 1870 1880 1890 1900
RNLFAMAVEG VVFFLITVLI QYRFFIRPRP VNAKLSPLND EDEDVRRERQ
1910 1920 1930 1940 1950
RILDGGGQND ILEIKELTKI YRRKRKPAVD RICVGIPPGE CFGLLGVNGA
1960 1970 1980 1990 2000
GKSSTFKMLT GDTTVTRGDA FLNKNSILSN IHEVHQNMGY CPQFDAITEL
2010 2020 2030 2040 2050
LTGREHVEFF ALLRGVPEKE VGKVGEWAIR KLGLVKYGEK YAGNYSGGNK
2060 2070 2080 2090 2100
RKLSTAMALI GGPPVVFLDE PTTGMDPKAR RFLWNCALSV VKEGRSVVLT
2110 2120 2130 2140 2150
SHSMEECEAL CTRMAIMVNG RFRCLGSVQH LKNRFGDGYT IVVRIAGSNP
2160 2170 2180 2190 2200
DLKPVQDFFG LAFPGSVLKE KHRNMLQYQL PSSLSSLARI FSILSQSKKR
2210 2220 2230 2240 2250
LHIEDYSVSQ TTLDQVFVNF AKDQSDDDHL KDLSLHKNQT VVDVAVLTSF
2260
LQDEKVKESY V
Length:2,261
Mass (Da):254,302
Last modified:October 5, 2010 - v3
Checksum:i21A2CF8F3F518D6D
GO

Sequence cautioni

The sequence AAD49849 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAA10005 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti793Y → C in AAK43526 (PubMed:11352567).Curated1
Sequence conflicti831D → N in AAK43526 (PubMed:11352567).Curated1
Sequence conflicti1005E → K in AAK43526 (PubMed:11352567).Curated1
Sequence conflicti1745 – 1746Missing in AAD49852 (PubMed:10431238).Curated2

Polymorphismi

Genetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIMi:600046].1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01752985P → L in HDLD2; Alabama. 1 PublicationCorresponds to variant rs145183203dbSNPEnsembl.1
Natural variantiVAR_035724210E → D in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_012618219R → K Common polymorphism; associated with a decreased severity of CAD. 7 PublicationsCorresponds to variant rs2230806dbSNPEnsembl.1
Natural variantiVAR_012619230R → C.2 PublicationsCorresponds to variant rs9282541dbSNPEnsembl.1
Natural variantiVAR_062481248P → A.1 PublicationCorresponds to variant rs142625938dbSNPEnsembl.1
Natural variantiVAR_012620255A → T in HDLD1; deficient cellular cholesterol efflux. 1 PublicationCorresponds to variant rs758100110dbSNPEnsembl.1
Natural variantiVAR_062482284E → K in HDLD1. 1 Publication1
Natural variantiVAR_062483364S → C.1 PublicationCorresponds to variant rs775035559dbSNPEnsembl.1
Natural variantiVAR_009145399V → A.2 PublicationsCorresponds to variant rs9282543dbSNPEnsembl.1
Natural variantiVAR_062484401K → Q.1 PublicationCorresponds to variant rs138487227dbSNPEnsembl.1
Natural variantiVAR_062485482Y → C in HDLD1. 1 Publication1
Natural variantiVAR_062486496R → W Associated with increased plasma HDL cholesterol. 1 PublicationCorresponds to variant rs147675550dbSNPEnsembl.1
Natural variantiVAR_009146587R → W in HDLD1. 1 PublicationCorresponds to variant rs2853574dbSNPEnsembl.1
Natural variantiVAR_062487590W → L in HDLD1. 2 PublicationsCorresponds to variant rs137854496dbSNPEnsembl.1
Natural variantiVAR_009147590W → S in HDLD1. 2 PublicationsCorresponds to variant rs137854496dbSNPEnsembl.1
Natural variantiVAR_009148597Q → R in HDLD1. 2 PublicationsCorresponds to variant rs2853578dbSNPEnsembl.1
Natural variantiVAR_062488638R → Q Associated with reduced plasma HDL cholesterol. 1 PublicationCorresponds to variant rs374190304dbSNPEnsembl.1
Natural variantiVAR_009149693Missing in HDLD2. 2 Publications1
Natural variantiVAR_012621771V → M Associated with HDL cholesterol. 4 PublicationsCorresponds to variant rs2066718dbSNPEnsembl.1
Natural variantiVAR_012622774T → P.2 PublicationsCorresponds to variant rs35819696dbSNPEnsembl.1
Natural variantiVAR_062489774T → S.1 Publication1
Natural variantiVAR_012623776K → N May be associated with increased risk of ischemic heart disease. 3 PublicationsCorresponds to variant rs138880920dbSNPEnsembl.1
Natural variantiVAR_062490815E → G Associated with reduced plasma HDL cholesterol. 1 PublicationCorresponds to variant rs145582736dbSNPEnsembl.1
Natural variantiVAR_012624825V → I Associated with higher plasma cholesterol. 5 PublicationsCorresponds to variant rs2066715dbSNPEnsembl.1
Natural variantiVAR_062491840W → R in HDLD1. 1 Publication1
Natural variantiVAR_012625883I → M Associated with higher plasma cholesterol. 7 PublicationsCorresponds to variant rs2066714dbSNPEnsembl.1
Natural variantiVAR_035725917D → Y in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_012626929T → I in HDLD1. 1 Publication1
Natural variantiVAR_037968935N → H in HDLD1. 1 PublicationCorresponds to variant rs28937314dbSNPEnsembl.1
Natural variantiVAR_009150935N → S in HDLD1. 2 PublicationsCorresponds to variant rs28937313dbSNPEnsembl.1
Natural variantiVAR_009151937A → V in HDLD1. 1 PublicationCorresponds to variant rs137854495dbSNPEnsembl.1
Natural variantiVAR_0126271046A → D in HDLD1. 1 PublicationCorresponds to variant rs141021096dbSNPEnsembl.1
Natural variantiVAR_0379691054V → I.Corresponds to variant rs13306072dbSNPEnsembl.1
Natural variantiVAR_0624921065P → S.1 Publication1
Natural variantiVAR_0624931068R → C in HDLD1. 1 PublicationCorresponds to variant rs745593394dbSNPEnsembl.1
Natural variantiVAR_0126281091M → T in HDLD2. 2 Publications1
Natural variantiVAR_0175301099D → Y in HDLD2. 1 PublicationCorresponds to variant rs28933692dbSNPEnsembl.1
Natural variantiVAR_0126291172E → D Associated with premature coronary heart disease. 4 PublicationsCorresponds to variant rs33918808dbSNPEnsembl.1
Natural variantiVAR_0170161181S → F Associated with reduced plasma HDL cholesterol. 2 PublicationsCorresponds to variant rs76881554dbSNPEnsembl.1
Natural variantiVAR_0624941216G → V.1 PublicationCorresponds to variant rs562403512dbSNPEnsembl.1
Natural variantiVAR_0091521289D → N in HDLD1. 2 PublicationsCorresponds to variant rs137854500dbSNPEnsembl.1
Natural variantiVAR_0624951341R → T Associated with reduced plasma HDL cholesterol. 1 PublicationCorresponds to variant rs147743782dbSNPEnsembl.1
Natural variantiVAR_0624961376S → G.1 PublicationCorresponds to variant rs145689805dbSNPEnsembl.1
Natural variantiVAR_0624971379L → F in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. 1 Publication1
Natural variantiVAR_0357261407A → T in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs189206655dbSNPEnsembl.1
Natural variantiVAR_0091531477C → R in HDLD1. 2 PublicationsCorresponds to variant rs137854494dbSNPEnsembl.1
Natural variantiVAR_0126301506S → L in HDLD1. 1 PublicationCorresponds to variant rs137854497dbSNPEnsembl.1
Natural variantiVAR_0091541517I → R in HDLD1. 1
Natural variantiVAR_0126381555I → T.2 PublicationsCorresponds to variant rs1997618dbSNPEnsembl.1
Natural variantiVAR_0126311587K → R Associated with HDL cholesterol. 9 PublicationsCorresponds to variant rs2230808dbSNPEnsembl.1
Natural variantiVAR_0126321611N → D Probable disease-associated mutation; associated with atherosclerosis; deficient cellular cholesterol efflux. 1 Publication1
Natural variantiVAR_0624981615R → Q Associated with reduced plasma HDL cholesterol. 1 Publication1
Natural variantiVAR_0126391648L → P.2 PublicationsCorresponds to variant rs1883024dbSNPEnsembl.1
Natural variantiVAR_0624991670A → T Associated with reduced plasma HDL cholesterol. 1 Publication1
Natural variantiVAR_0625001680R → Q Associated with increased plasma HDL cholesterol. 1 PublicationCorresponds to variant rs150125857dbSNPEnsembl.1
Natural variantiVAR_0379701680R → W in HDLD1. 1 PublicationCorresponds to variant rs137854498dbSNPEnsembl.1
Natural variantiVAR_0625011704V → D in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. 1 Publication1
Natural variantiVAR_0126331731S → C.1 PublicationCorresponds to variant rs760507032dbSNPEnsembl.1
Natural variantiVAR_0091551800N → H in HDLD1. 4 PublicationsCorresponds to variant rs146292819dbSNPEnsembl.1
Natural variantiVAR_0625021851R → Q in HDLD1. 1 Publication1
Natural variantiVAR_0126341893 – 1894Missing in HDLD2. 2 Publications2
Natural variantiVAR_0625031897R → W in HDLD2; uncertain pathological significance. 1 PublicationCorresponds to variant rs760768125dbSNPEnsembl.1
Natural variantiVAR_0625041901R → S in HDLD1. 1 Publication1
Natural variantiVAR_0625051925R → Q in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane. 1 PublicationCorresponds to variant rs142688906dbSNPEnsembl.1
Natural variantiVAR_0379712009F → S in HDLD2. 1 PublicationCorresponds to variant rs137854499dbSNPEnsembl.1
Natural variantiVAR_0126352081R → W in HDLD1. 1 PublicationCorresponds to variant rs137854501dbSNPEnsembl.1
Natural variantiVAR_0357272109A → T in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0126362150P → L in HDLD2. 1 PublicationCorresponds to variant rs369098049dbSNPEnsembl.1
Natural variantiVAR_0625062163F → S Could be associated with reduced plasma HDL cholesterol. 1 Publication1
Natural variantiVAR_0126372168L → P.3 PublicationsCorresponds to variant rs2853577dbSNPEnsembl.1
Natural variantiVAR_0625072196Q → H in HDLD1. 1 PublicationCorresponds to variant rs564764153dbSNPEnsembl.1
Natural variantiVAR_0625082243D → E.1 PublicationCorresponds to variant rs34879708dbSNPEnsembl.1
Natural variantiVAR_0625092244V → I Could be associated with reduced plasma HDL cholesterol. 1 PublicationCorresponds to variant rs144588452dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF275948 Genomic DNA. Translation: AAF86276.1.
AL353685, AL359846 Genomic DNA. Translation: CAH72444.1.
AL359846, AL353685 Genomic DNA. Translation: CAH73579.1.
AF285167 mRNA. Translation: AAF98175.1.
AF287262 Genomic DNA. Translation: AAK43526.1.
AB055982 mRNA. Translation: BAB63210.1.
AJ012376 mRNA. Translation: CAA10005.1. Different initiation.
AF165281 mRNA. Translation: AAD49849.1. Different initiation.
AF165286
, AF165282, AF165283, AF165284, AF165285 Genomic DNA. Translation: AAD49851.1.
AF165306
, AF165287, AF165288, AF165289, AF165290, AF165291, AF165292, AF165293, AF165294, AF165295, AF165296, AF165297, AF165298, AF165299, AF165300, AF165301, AF165302, AF165303, AF165304, AF165305 Genomic DNA. Translation: AAD49852.1.
AF165309, AF165307, AF165308 Genomic DNA. Translation: AAD49854.1.
AF165310 Genomic DNA. Translation: AAD49853.1.
CCDSiCCDS6762.1.
RefSeqiNP_005493.2. NM_005502.3.
UniGeneiHs.659274.

Genome annotation databases

EnsembliENST00000374736; ENSP00000363868; ENSG00000165029.
GeneIDi19.
KEGGihsa:19.
UCSCiuc004bcl.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

SHMPD

The Singapore human mutation and polymorphism database

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF275948 Genomic DNA. Translation: AAF86276.1.
AL353685, AL359846 Genomic DNA. Translation: CAH72444.1.
AL359846, AL353685 Genomic DNA. Translation: CAH73579.1.
AF285167 mRNA. Translation: AAF98175.1.
AF287262 Genomic DNA. Translation: AAK43526.1.
AB055982 mRNA. Translation: BAB63210.1.
AJ012376 mRNA. Translation: CAA10005.1. Different initiation.
AF165281 mRNA. Translation: AAD49849.1. Different initiation.
AF165286
, AF165282, AF165283, AF165284, AF165285 Genomic DNA. Translation: AAD49851.1.
AF165306
, AF165287, AF165288, AF165289, AF165290, AF165291, AF165292, AF165293, AF165294, AF165295, AF165296, AF165297, AF165298, AF165299, AF165300, AF165301, AF165302, AF165303, AF165304, AF165305 Genomic DNA. Translation: AAD49852.1.
AF165309, AF165307, AF165308 Genomic DNA. Translation: AAD49854.1.
AF165310 Genomic DNA. Translation: AAD49853.1.
CCDSiCCDS6762.1.
RefSeqiNP_005493.2. NM_005502.3.
UniGeneiHs.659274.

3D structure databases

ProteinModelPortaliO95477.
SMRiO95477.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106537. 23 interactors.
DIPiDIP-29211N.
IntActiO95477. 23 interactors.
MINTiMINT-239561.
STRINGi9606.ENSP00000363868.

Chemistry databases

ChEMBLiCHEMBL2362986.
DrugBankiDB00171. Adenosine triphosphate.
DB01016. Glyburide.
DB01599. Probucol.
SwissLipidsiSLP:000000345.

Protein family/group databases

TCDBi3.A.1.211.14. the atp-binding cassette (abc) superfamily.

PTM databases

iPTMnetiO95477.
PhosphoSitePlusiO95477.
SwissPalmiO95477.

Polymorphism and mutation databases

BioMutaiABCA1.

Proteomic databases

EPDiO95477.
MaxQBiO95477.
PaxDbiO95477.
PeptideAtlasiO95477.
PRIDEiO95477.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374736; ENSP00000363868; ENSG00000165029.
GeneIDi19.
KEGGihsa:19.
UCSCiuc004bcl.4. human.

Organism-specific databases

CTDi19.
DisGeNETi19.
GeneCardsiABCA1.
HGNCiHGNC:29. ABCA1.
HPAiCAB069889.
HPA057283.
MalaCardsiABCA1.
MIMi205400. phenotype.
600046. gene+phenotype.
604091. phenotype.
neXtProtiNX_O95477.
OpenTargetsiENSG00000165029.
Orphaneti425. Apolipoprotein A-I deficiency.
31150. Tangier disease.
PharmGKBiPA24373.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0059. Eukaryota.
COG1131. LUCA.
GeneTreeiENSGT00760000118965.
HOVERGENiHBG050436.
InParanoidiO95477.
KOiK05641.
OMAiKRMSEIC.
OrthoDBiEOG091G007E.
PhylomeDBiO95477.
TreeFamiTF105191.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165029-MONOMER.
ReactomeiR-HSA-194223. HDL-mediated lipid transport.
R-HSA-1989781. PPARA activates gene expression.
SignaLinkiO95477.
SIGNORiO95477.

Miscellaneous databases

ChiTaRSiABCA1. human.
GeneWikiiABCA1.
GenomeRNAii19.
PROiO95477.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165029.
ExpressionAtlasiO95477. baseline and differential.
GenevisibleiO95477. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR030365. ABCA1.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 6 hits.
PTHR19229:SF34. PTHR19229:SF34. 6 hits.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiABCA1_HUMAN
AccessioniPrimary (citable) accession number: O95477
Secondary accession number(s): Q5VX33
, Q96S56, Q96T85, Q9NQV4, Q9UN06, Q9UN07, Q9UN08, Q9UN09
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: October 5, 2010
Last modified: November 30, 2016
This is version 183 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.