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O95477

- ABCA1_HUMAN

UniProt

O95477 - ABCA1_HUMAN

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Protein

ATP-binding cassette sub-family A member 1

Gene

ABCA1

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi933 – 9408ATP 1PROSITE-ProRule annotation
Nucleotide bindingi1946 – 19538ATP 2PROSITE-ProRule annotation

GO - Molecular functioni

  1. anion transmembrane transporter activity Source: BHF-UCL
  2. apolipoprotein A-I binding Source: BHF-UCL
  3. apolipoprotein A-I receptor activity Source: BHF-UCL
  4. apolipoprotein binding Source: BHF-UCL
  5. ATPase activity Source: InterPro
  6. ATPase binding Source: BHF-UCL
  7. ATP binding Source: BHF-UCL
  8. cholesterol binding Source: BHF-UCL
  9. cholesterol transporter activity Source: BHF-UCL
  10. phospholipid binding Source: BHF-UCL
  11. phospholipid transporter activity Source: BHF-UCL
  12. receptor binding Source: BHF-UCL
  13. small GTPase binding Source: BHF-UCL
  14. syntaxin binding Source: BHF-UCL

GO - Biological processi

  1. apolipoprotein A-I-mediated signaling pathway Source: GOC
  2. cellular lipid metabolic process Source: Reactome
  3. cellular response to cholesterol Source: Ensembl
  4. cellular response to lipopolysaccharide Source: Ensembl
  5. cellular response to retinoic acid Source: Ensembl
  6. cholesterol efflux Source: BHF-UCL
  7. cholesterol homeostasis Source: BHF-UCL
  8. cholesterol metabolic process Source: BHF-UCL
  9. endosomal transport Source: BHF-UCL
  10. G-protein coupled receptor signaling pathway Source: BHF-UCL
  11. high-density lipoprotein particle assembly Source: BHF-UCL
  12. interleukin-1 beta secretion Source: BHF-UCL
  13. intracellular cholesterol transport Source: BHF-UCL
  14. lipoprotein metabolic process Source: Reactome
  15. lysosome organization Source: BHF-UCL
  16. negative regulation of cholesterol storage Source: BHF-UCL
  17. negative regulation of macrophage derived foam cell differentiation Source: BHF-UCL
  18. peptide secretion Source: Ensembl
  19. phagocytosis, engulfment Source: Ensembl
  20. phospholipid efflux Source: BHF-UCL
  21. phospholipid homeostasis Source: BHF-UCL
  22. phospholipid translocation Source: Ensembl
  23. platelet dense granule organization Source: BHF-UCL
  24. positive regulation of cAMP biosynthetic process Source: BHF-UCL
  25. positive regulation of cholesterol efflux Source: Ensembl
  26. protein lipidation Source: Ensembl
  27. regulation of Cdc42 protein signal transduction Source: BHF-UCL
  28. response to drug Source: Ensembl
  29. response to laminar fluid shear stress Source: BHF-UCL
  30. response to low-density lipoprotein particle Source: BHF-UCL
  31. response to nutrient Source: Ensembl
  32. reverse cholesterol transport Source: BHF-UCL
  33. small molecule metabolic process Source: Reactome
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

ReactomeiREACT_116145. PPARA activates gene expression.
REACT_13621. HDL-mediated lipid transport.
SignaLinkiO95477.

Protein family/group databases

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

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
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:29. ABCA1.

Subcellular locationi

Membrane 2 Publications; Multi-pass membrane protein 2 Publications

GO - Cellular componenti

  1. endocytic vesicle Source: BHF-UCL
  2. external side of plasma membrane Source: Ensembl
  3. Golgi apparatus Source: Ensembl
  4. integral component of plasma membrane Source: BHF-UCL
  5. membrane raft Source: BHF-UCL
  6. perinuclear region of cytoplasm Source: BHF-UCL
  7. phagocytic vesicle Source: BHF-UCL
  8. plasma membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive 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.18 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti255 – 2551A → T in HDLD1; deficient cellular cholesterol efflux. 1 Publication
VAR_012620
Natural varianti284 – 2841E → K in HDLD1. 1 Publication
VAR_062482
Natural varianti482 – 4821Y → C in HDLD1. 1 Publication
VAR_062485
Natural varianti587 – 5871R → W in HDLD1. 1 Publication
Corresponds to variant rs2853574 [ dbSNP | Ensembl ].
VAR_009146
Natural varianti590 – 5901W → L in HDLD1. 2 Publications
VAR_062487
Natural varianti590 – 5901W → S in HDLD1. 2 Publications
VAR_009147
Natural varianti597 – 5971Q → R in HDLD1. 2 Publications
Corresponds to variant rs2853578 [ dbSNP | Ensembl ].
VAR_009148
Natural varianti840 – 8401W → R in HDLD1. 1 Publication
VAR_062491
Natural varianti929 – 9291T → I in HDLD1. 1 Publication
VAR_012626
Natural varianti935 – 9351N → H in HDLD1. 1 Publication
Corresponds to variant rs28937314 [ dbSNP | Ensembl ].
VAR_037968
Natural varianti935 – 9351N → S in HDLD1. 2 Publications
Corresponds to variant rs28937313 [ dbSNP | Ensembl ].
VAR_009150
Natural varianti937 – 9371A → V in HDLD1. 1 Publication
VAR_009151
Natural varianti1046 – 10461A → D in HDLD1. 1 Publication
VAR_012627
Natural varianti1068 – 10681R → C in HDLD1. 1 Publication
VAR_062493
Natural varianti1289 – 12891D → N in HDLD1. 2 Publications
VAR_009152
Natural varianti1379 – 13791L → F in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. 1 Publication
VAR_062497
Natural varianti1477 – 14771C → R in HDLD1. 2 Publications
VAR_009153
Natural varianti1506 – 15061S → L in HDLD1. 1 Publication
VAR_012630
Natural varianti1517 – 15171I → R in HDLD1.
VAR_009154
Natural varianti1680 – 16801R → W in HDLD1. 1 Publication
Corresponds to variant rs137854498 [ dbSNP | Ensembl ].
VAR_037970
Natural varianti1704 – 17041V → D in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. 1 Publication
VAR_062501
Natural varianti1800 – 18001N → H in HDLD1. 4 Publications
VAR_009155
Natural varianti1851 – 18511R → Q in HDLD1. 1 Publication
VAR_062502
Natural varianti1901 – 19011R → S in HDLD1. 1 Publication
VAR_062504
Natural varianti2081 – 20811R → W in HDLD1. 1 Publication
VAR_012635
Natural varianti2196 – 21961Q → H in HDLD1. 1 Publication
VAR_062507
High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited 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.7 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851P → L in HDLD2; Alabama. 1 Publication
Corresponds to variant rs145183203 [ dbSNP | Ensembl ].
VAR_017529
Natural varianti230 – 2301R → C in HDLD2. 1 Publication
Corresponds to variant rs9282541 [ dbSNP | Ensembl ].
VAR_012619
Natural varianti693 – 6931Missing in HDLD2. 2 Publications
VAR_009149
Natural varianti1091 – 10911M → T in HDLD2. 2 Publications
VAR_012628
Natural varianti1099 – 10991D → Y in HDLD2. 1 Publication
Corresponds to variant rs28933692 [ dbSNP | Ensembl ].
VAR_017530
Natural varianti1893 – 18942Missing in HDLD2. 2 Publications
VAR_012634
Natural varianti1897 – 18971R → W in HDLD2; uncertain pathological significance. 1 Publication
VAR_062503
Natural varianti2009 – 20091F → S in HDLD2. 1 Publication
VAR_037971
Natural varianti2150 – 21501P → L in HDLD2. 1 Publication
VAR_012636

Keywords - Diseasei

Atherosclerosis, Disease mutation

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 22612261ATP-binding cassette sub-family A member 1PRO_0000093288Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi3 – 31S-palmitoyl cysteine1 Publication
Glycosylationi14 – 141N-linked (GlcNAc...)Sequence Analysis
Lipidationi23 – 231S-palmitoyl cysteine1 Publication
Disulfide bondi75 ↔ 3091 Publication
Glycosylationi98 – 981N-linked (GlcNAc...)1 Publication
Glycosylationi151 – 1511N-linked (GlcNAc...)Sequence Analysis
Glycosylationi161 – 1611N-linked (GlcNAc...)Sequence Analysis
Glycosylationi196 – 1961N-linked (GlcNAc...)Sequence Analysis
Glycosylationi244 – 2441N-linked (GlcNAc...)1 Publication
Glycosylationi292 – 2921N-linked (GlcNAc...)Sequence Analysis
Glycosylationi337 – 3371N-linked (GlcNAc...)Sequence Analysis
Glycosylationi349 – 3491N-linked (GlcNAc...)Sequence Analysis
Glycosylationi400 – 4001N-linked (GlcNAc...)Sequence Analysis
Glycosylationi478 – 4781N-linked (GlcNAc...)Sequence Analysis
Glycosylationi489 – 4891N-linked (GlcNAc...)Sequence Analysis
Glycosylationi521 – 5211N-linked (GlcNAc...)Sequence Analysis
Glycosylationi820 – 8201N-linked (GlcNAc...)Sequence Analysis
Modified residuei1042 – 10421Phosphoserine; by PKA1 Publication
Lipidationi1110 – 11101S-palmitoyl cysteine1 Publication
Lipidationi1111 – 11111S-palmitoyl cysteine1 Publication
Glycosylationi1144 – 11441N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1294 – 12941N-linked (GlcNAc...)Sequence Analysis
Modified residuei1296 – 12961PhosphoserineBy similarity
Glycosylationi1453 – 14531N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1463 ↔ 14771 Publication
Glycosylationi1504 – 15041N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1637 – 16371N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2044 – 20441N-linked (GlcNAc...)Sequence Analysis
Modified residuei2054 – 20541Phosphoserine; by PKA1 Publication
Glycosylationi2238 – 22381N-linked (GlcNAc...)Sequence Analysis

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

MaxQBiO95477.
PaxDbiO95477.
PRIDEiO95477.

PTM databases

PhosphoSiteiO95477.

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

BgeeiO95477.
ExpressionAtlasiO95477. baseline and differential.
GenevestigatoriO95477.

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

Protein-protein interaction databases

BioGridi106537. 24 interactions.
DIPiDIP-29211N.
IntActiO95477. 21 interactions.
MINTiMINT-239561.

Structurei

3D structure databases

ProteinModelPortaliO95477.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini43 – 639597ExtracellularAdd
BLAST
Topological domaini1372 – 1656285ExtracellularAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei22 – 4221HelicalSequence AnalysisAdd
BLAST
Transmembranei640 – 66021HelicalSequence AnalysisAdd
BLAST
Transmembranei683 – 70321HelicalSequence AnalysisAdd
BLAST
Transmembranei716 – 73621HelicalSequence AnalysisAdd
BLAST
Transmembranei745 – 76521HelicalSequence AnalysisAdd
BLAST
Transmembranei777 – 79721HelicalSequence AnalysisAdd
BLAST
Transmembranei827 – 84721HelicalSequence AnalysisAdd
BLAST
Transmembranei1041 – 105717HelicalSequence AnalysisAdd
BLAST
Transmembranei1351 – 137121HelicalSequence AnalysisAdd
BLAST
Transmembranei1657 – 167721HelicalSequence AnalysisAdd
BLAST
Transmembranei1703 – 172321HelicalSequence AnalysisAdd
BLAST
Transmembranei1735 – 175521HelicalSequence AnalysisAdd
BLAST
Transmembranei1768 – 178821HelicalSequence AnalysisAdd
BLAST
Transmembranei1802 – 182221HelicalSequence AnalysisAdd
BLAST
Transmembranei1852 – 187221HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini899 – 1131233ABC transporter 1PROSITE-ProRule annotationAdd
BLAST
Domaini1912 – 2144233ABC transporter 2PROSITE-ProRule annotationAdd
BLAST

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

eggNOGiCOG1131.
GeneTreeiENSGT00760000118965.
HOVERGENiHBG050436.
InParanoidiO95477.
KOiK05641.
OMAiFSMRSWS.
OrthoDBiEOG78D7J6.
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.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 1 hit.
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 AAD49849.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence CAA10005.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti793 – 7931Y → C in AAK43526. (PubMed:11352567)Curated
Sequence conflicti831 – 8311D → N in AAK43526. (PubMed:11352567)Curated
Sequence conflicti1005 – 10051E → K in AAK43526. (PubMed:11352567)Curated
Sequence conflicti1745 – 17462Missing in AAD49852. (PubMed:10431238)Curated

Polymorphismi

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851P → L in HDLD2; Alabama. 1 Publication
Corresponds to variant rs145183203 [ dbSNP | Ensembl ].
VAR_017529
Natural varianti210 – 2101E → D in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035724
Natural varianti219 – 2191R → K Common polymorphism; associated with a decreased severity of CAD. 7 Publications
Corresponds to variant rs2230806 [ dbSNP | Ensembl ].
VAR_012618
Natural varianti230 – 2301R → C in HDLD2. 1 Publication
Corresponds to variant rs9282541 [ dbSNP | Ensembl ].
VAR_012619
Natural varianti248 – 2481P → A.1 Publication
VAR_062481
Natural varianti255 – 2551A → T in HDLD1; deficient cellular cholesterol efflux. 1 Publication
VAR_012620
Natural varianti284 – 2841E → K in HDLD1. 1 Publication
VAR_062482
Natural varianti364 – 3641S → C.1 Publication
VAR_062483
Natural varianti399 – 3991V → A.2 Publications
Corresponds to variant rs9282543 [ dbSNP | Ensembl ].
VAR_009145
Natural varianti401 – 4011K → Q.1 Publication
VAR_062484
Natural varianti482 – 4821Y → C in HDLD1. 1 Publication
VAR_062485
Natural varianti496 – 4961R → W Associated with increased plasma HDL cholesterol. 1 Publication
Corresponds to variant rs147675550 [ dbSNP | Ensembl ].
VAR_062486
Natural varianti587 – 5871R → W in HDLD1. 1 Publication
Corresponds to variant rs2853574 [ dbSNP | Ensembl ].
VAR_009146
Natural varianti590 – 5901W → L in HDLD1. 2 Publications
VAR_062487
Natural varianti590 – 5901W → S in HDLD1. 2 Publications
VAR_009147
Natural varianti597 – 5971Q → R in HDLD1. 2 Publications
Corresponds to variant rs2853578 [ dbSNP | Ensembl ].
VAR_009148
Natural varianti638 – 6381R → Q Associated with reduced plasma HDL cholesterol. 1 Publication
VAR_062488
Natural varianti693 – 6931Missing in HDLD2. 2 Publications
VAR_009149
Natural varianti771 – 7711V → M Associated with HDL cholesterol. 4 Publications
Corresponds to variant rs2066718 [ dbSNP | Ensembl ].
VAR_012621
Natural varianti774 – 7741T → P.2 Publications
Corresponds to variant rs35819696 [ dbSNP | Ensembl ].
VAR_012622
Natural varianti774 – 7741T → S.1 Publication
VAR_062489
Natural varianti776 – 7761K → N May be associated with increased risk of ischemic heart disease. 3 Publications
Corresponds to variant rs138880920 [ dbSNP | Ensembl ].
VAR_012623
Natural varianti815 – 8151E → G Associated with reduced plasma HDL cholesterol. 1 Publication
Corresponds to variant rs145582736 [ dbSNP | Ensembl ].
VAR_062490
Natural varianti825 – 8251V → I Associated with higher plasma cholesterol. 5 Publications
Corresponds to variant rs2066715 [ dbSNP | Ensembl ].
VAR_012624
Natural varianti840 – 8401W → R in HDLD1. 1 Publication
VAR_062491
Natural varianti883 – 8831I → M Associated with higher plasma cholesterol. 7 Publications
Corresponds to variant rs2066714 [ dbSNP | Ensembl ].
VAR_012625
Natural varianti917 – 9171D → Y in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035725
Natural varianti929 – 9291T → I in HDLD1. 1 Publication
VAR_012626
Natural varianti935 – 9351N → H in HDLD1. 1 Publication
Corresponds to variant rs28937314 [ dbSNP | Ensembl ].
VAR_037968
Natural varianti935 – 9351N → S in HDLD1. 2 Publications
Corresponds to variant rs28937313 [ dbSNP | Ensembl ].
VAR_009150
Natural varianti937 – 9371A → V in HDLD1. 1 Publication
VAR_009151
Natural varianti1046 – 10461A → D in HDLD1. 1 Publication
VAR_012627
Natural varianti1054 – 10541V → I.
Corresponds to variant rs13306072 [ dbSNP | Ensembl ].
VAR_037969
Natural varianti1065 – 10651P → S.1 Publication
VAR_062492
Natural varianti1068 – 10681R → C in HDLD1. 1 Publication
VAR_062493
Natural varianti1091 – 10911M → T in HDLD2. 2 Publications
VAR_012628
Natural varianti1099 – 10991D → Y in HDLD2. 1 Publication
Corresponds to variant rs28933692 [ dbSNP | Ensembl ].
VAR_017530
Natural varianti1172 – 11721E → D Associated with premature coronary heart disease. 4 Publications
Corresponds to variant rs33918808 [ dbSNP | Ensembl ].
VAR_012629
Natural varianti1181 – 11811S → F Associated with reduced plasma HDL cholesterol. 2 Publications
Corresponds to variant rs76881554 [ dbSNP | Ensembl ].
VAR_017016
Natural varianti1216 – 12161G → V.1 Publication
VAR_062494
Natural varianti1289 – 12891D → N in HDLD1. 2 Publications
VAR_009152
Natural varianti1341 – 13411R → T Associated with reduced plasma HDL cholesterol. 1 Publication
Corresponds to variant rs147743782 [ dbSNP | Ensembl ].
VAR_062495
Natural varianti1376 – 13761S → G.1 Publication
VAR_062496
Natural varianti1379 – 13791L → F in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. 1 Publication
VAR_062497
Natural varianti1407 – 14071A → T in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035726
Natural varianti1477 – 14771C → R in HDLD1. 2 Publications
VAR_009153
Natural varianti1506 – 15061S → L in HDLD1. 1 Publication
VAR_012630
Natural varianti1517 – 15171I → R in HDLD1.
VAR_009154
Natural varianti1555 – 15551I → T.2 Publications
Corresponds to variant rs1997618 [ dbSNP | Ensembl ].
VAR_012638
Natural varianti1587 – 15871K → R Associated with HDL cholesterol. 9 Publications
Corresponds to variant rs2230808 [ dbSNP | Ensembl ].
VAR_012631
Natural varianti1611 – 16111N → D Probable disease-associated mutation; associated with atherosclerosis; deficient cellular cholesterol efflux. 1 Publication
VAR_012632
Natural varianti1615 – 16151R → Q Associated with reduced plasma HDL cholesterol. 1 Publication
VAR_062498
Natural varianti1648 – 16481L → P.2 Publications
Corresponds to variant rs1883024 [ dbSNP | Ensembl ].
VAR_012639
Natural varianti1670 – 16701A → T Associated with reduced plasma HDL cholesterol. 1 Publication
VAR_062499
Natural varianti1680 – 16801R → Q Associated with increased plasma HDL cholesterol. 1 Publication
Corresponds to variant rs150125857 [ dbSNP | Ensembl ].
VAR_062500
Natural varianti1680 – 16801R → W in HDLD1. 1 Publication
Corresponds to variant rs137854498 [ dbSNP | Ensembl ].
VAR_037970
Natural varianti1704 – 17041V → D in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. 1 Publication
VAR_062501
Natural varianti1731 – 17311S → C.1 Publication
VAR_012633
Natural varianti1800 – 18001N → H in HDLD1. 4 Publications
VAR_009155
Natural varianti1851 – 18511R → Q in HDLD1. 1 Publication
VAR_062502
Natural varianti1893 – 18942Missing in HDLD2. 2 Publications
VAR_012634
Natural varianti1897 – 18971R → W in HDLD2; uncertain pathological significance. 1 Publication
VAR_062503
Natural varianti1901 – 19011R → S in HDLD1. 1 Publication
VAR_062504
Natural varianti1925 – 19251R → Q in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane. 1 Publication
Corresponds to variant rs142688906 [ dbSNP | Ensembl ].
VAR_062505
Natural varianti2009 – 20091F → S in HDLD2. 1 Publication
VAR_037971
Natural varianti2081 – 20811R → W in HDLD1. 1 Publication
VAR_012635
Natural varianti2109 – 21091A → T in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035727
Natural varianti2150 – 21501P → L in HDLD2. 1 Publication
VAR_012636
Natural varianti2163 – 21631F → S Could be associated with reduced plasma HDL cholesterol. 1 Publication
VAR_062506
Natural varianti2168 – 21681L → P.3 Publications
Corresponds to variant rs2853577 [ dbSNP | Ensembl ].
VAR_012637
Natural varianti2196 – 21961Q → H in HDLD1. 1 Publication
VAR_062507
Natural varianti2243 – 22431D → E.1 Publication
Corresponds to variant rs34879708 [ dbSNP | Ensembl ].
VAR_062508
Natural varianti2244 – 22441V → I Could be associated with reduced plasma HDL cholesterol. 1 Publication
Corresponds to variant rs144588452 [ dbSNP | Ensembl ].
VAR_062509

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. 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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS6762.1.
RefSeqi NP_005493.2. NM_005502.3.
UniGenei Hs.659274.

3D structure databases

ProteinModelPortali O95477.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106537. 24 interactions.
DIPi DIP-29211N.
IntActi O95477. 21 interactions.
MINTi MINT-239561.

Chemistry

ChEMBLi CHEMBL2362986.
DrugBanki DB00171. Adenosine triphosphate.
DB01016. Glyburide.
DB01599. Probucol.
GuidetoPHARMACOLOGYi 756.

Protein family/group databases

TCDBi 3.A.1.211.14. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSitei O95477.

Proteomic databases

MaxQBi O95477.
PaxDbi O95477.
PRIDEi O95477.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000374736 ; ENSP00000363868 ; ENSG00000165029 .
GeneIDi 19.
KEGGi hsa:19.
UCSCi uc004bcl.3. human.

Organism-specific databases

CTDi 19.
GeneCardsi GC09M107543.
HGNCi HGNC:29. ABCA1.
MIMi 205400. phenotype.
600046. gene+phenotype.
604091. phenotype.
neXtProti NX_O95477.
Orphaneti 425. Apolipoprotein A-I deficiency.
31150. Tangier disease.
PharmGKBi PA24373.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1131.
GeneTreei ENSGT00760000118965.
HOVERGENi HBG050436.
InParanoidi O95477.
KOi K05641.
OMAi FSMRSWS.
OrthoDBi EOG78D7J6.
PhylomeDBi O95477.
TreeFami TF105191.

Enzyme and pathway databases

Reactomei REACT_116145. PPARA activates gene expression.
REACT_13621. HDL-mediated lipid transport.
SignaLinki O95477.

Miscellaneous databases

ChiTaRSi ABCA1. human.
GeneWikii ABCA1.
GenomeRNAii 19.
NextBioi 51.
PROi O95477.
SOURCEi Search...

Gene expression databases

Bgeei O95477.
ExpressionAtlasi O95477. baseline and differential.
Genevestigatori O95477.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR19229. PTHR19229. 1 hit.
Pfami PF00005. ABC_tran. 2 hits.
[Graphical view ]
SMARTi SM00382. AAA. 2 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
PROSITEi PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT ARG-1587.
  2. "ABCA1 gene expression and apoA-I-mediated cholesterol efflux are regulated by LXR."
    Schwartz K., Lawn R.M., Wade D.P.
    Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-1587.
    Tissue: Skin.
  3. "Human and mouse ABCA1 comparative sequencing and transgenesis studies revealing novel regulatory sequences."
    Qiu Y., Cavelier L., Chiu S., Yang X., Rubin E., Cheng J.-F.
    Genomics 73:66-76(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ARG-1587.
  4. "A new topological model of functional human ABCA1-signal peptide cleavage and glycosylation of a large extracellular domain."
    Tanaka A.R., Abe-Dohmae S., Arakawa R., Sadanami K., Kidera A., Kioka N., Amachi T., Yokoyama S., Ueda K.
    Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  5. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages."
    Langmann T., Klucken J., Reil M., Liebisch G., Luciani M.-F., Chimini G., Kaminski W.E., Schmitz G.
    Biochem. Biophys. Res. Commun. 257:29-33(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 21-2261, VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168.
  7. "Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1."
    Rust S., Rosier M., Funke H., Real J., Amoura Z., Piette J.-C., Deleuze J.-F., Brewer H.B. Jr., Duverger N., Denefle P., Assmann G.
    Nat. Genet. 22:352-355(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 21-2261, VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168.
  8. "Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux."
    See R.H., Caday-Malcolm R.A., Singaraja R.R., Zhou S., Silverston A., Huber M.T., Moran J., James E.R., Janoo R., Savill J.M., Rigot V., Zhang L.H., Wang M., Chimini G., Wellington C.L., Tafuri S.R., Hayden M.R.
    J. Biol. Chem. 277:41835-41842(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-1042 AND SER-2054.
  9. "The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux."
    Porsch-Oezcueruemez M., Langmann T., Heimerl S., Borsukova H., Kaminski W.E., Drobnik W., Honer C., Schumacher C., Schmitz G.
    J. Biol. Chem. 276:12427-12433(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: REPRESSION BY ZNF202.
  10. "Bacterial lipopolysaccharide induces expression of ABCA1 but not ABCG1 via an LXR-independent pathway."
    Kaplan R., Gan X., Menke J.G., Wright S.D., Cai T.-Q.
    J. Lipid Res. 43:952-959(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION BY LPS.
  11. "Cooperation between engulfment receptors: the case of ABCA1 and MEGF10."
    Hamon Y., Trompier D., Ma Z., Venegas V., Pophillat M., Mignotte V., Zhou Z., Chimini G.
    PLoS ONE 1:E120-E120(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MEGF10.
  12. "Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene."
    Singaraja R.R., Brunham L.R., Visscher H., Kastelein J.J.P., Hayden M.R.
    Arterioscler. Thromb. Vasc. Biol. 23:1322-1332(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  13. "Palmitoylation of ATP-binding cassette transporter A1 is essential for its trafficking and function."
    Singaraja R.R., Kang M.H., Vaid K., Sanders S.S., Vilas G.L., Arstikaitis P., Coutinho J., Drisdel R.C., El-Husseini Ael D., Green W.N., Berthiaume L., Hayden M.R.
    Circ. Res. 105:138-147(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PALMITOYLATION AT CYS-3; CYS-23; CYS-1110 AND CYS-1111, SUBCELLULAR LOCATION.
  14. "Formation of two intramolecular disulfide bonds is necessary for ApoA-I-dependent cholesterol efflux mediated by ABCA1."
    Hozoji M., Kimura Y., Kioka N., Ueda K.
    J. Biol. Chem. 284:11293-11300(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISULFIDE BONDS, SUBCELLULAR LOCATION.
  15. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-98 AND ASN-244.
    Tissue: Liver.
  16. Cited for: VARIANTS HDLD2 THR-1091 AND 1893-GLU-ASP-1894 DEL.
  17. Cited for: VARIANTS HDLD1 ARG-597 AND ARG-1477, VARIANT HDLD2 LEU-693 DEL.
  18. Cited for: VARIANTS HDLD1 SER-590; SER-935 AND VAL-937, VARIANTS ALA-399 AND MET-883.
  19. Cited for: VARIANTS HDLD1 ARG-597; ILE-929 AND ARG-1477, VARIANTS HDLD2 LEU-693 DEL; THR-1091; 1893-GLU-ASP-1894 DEL AND LEU-2150.
  20. "Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds."
    Brousseau M.E., Schaefer E.J., Dupuis J., Eustace B., Van Eerdewegh P., Goldkamp A.L., Thurston L.M., FitzGerald M.G., Yasek-McKenna D., O'Neill G., Eberhart G.P., Weiffenbach B., Ordovas J.M., Freeman M.W., Brown R.H. Jr., Gu J.Z.
    J. Lipid Res. 41:433-441(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HDLD1 ASN-1289 AND HIS-1800.
  21. Cited for: VARIANT HDLD1 ASP-1046, VARIANT HDLD2 CYS-230, VARIANTS LYS-219; ILE-825; MET-883 AND ARG-1587.
  22. "A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease."
    Bertolini S., Pisciotta L., Seri M., Cusano R., Cantafora A., Calabresi L., Franceschini G., Ravazzolo R., Calandra S.
    Atherosclerosis 154:599-605(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HDLD1 TRP-587, VARIANT PRO-2168.
  23. "Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease."
    Brousseau M.E., Bodzioch M., Schaefer E.J., Goldkamp A.L., Kielar D., Probst M., Ordovas J.M., Aslanidis C., Lackner K.J., Bloomfield Rubins H., Collins D., Robins S.J., Wilson P.W.F., Schmitz G.
    Atherosclerosis 154:607-611(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LYS-219; MET-883 AND ASP-1172.
  24. "Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome."
    Lapicka-Bodzioch K., Bodzioch M., Kruell M., Kielar D., Probst M., Kiec B., Andrikovics H., Boettcher A., Hubacek J., Aslanidis C., Suttorp N., Schmitz G.
    Biochim. Biophys. Acta 1537:42-48(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HDLD1 LEU-1506.
  25. "Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease."
    Huang W., Moriyama K., Koga T., Hua H., Ageta M., Kawabata S., Mawatari K., Imamura T., Eto T., Kawamura M., Teramoto T., Sasaki J.
    Biochim. Biophys. Acta 1537:71-78(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HDLD1 ASN-1289 AND TRP-2081, VARIANT LYS-219.
  26. "Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease."
    Clee S.M., Zwinderman A.H., Engert J.C., Zwarts K.Y., Molhuizen H.O.F., Roomp K., Jukema J.W., van Wijland M., van Dam M., Hudson T.J., Brooks-Wilson A., Genest J. Jr., Kastelein J.J.P., Hayden M.R.
    Circulation 103:1198-1205(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LYS-219; ALA-399; MET-771; PRO-774; ASN-776; ILE-825; MET-883; ASP-1172; ARG-1587 AND CYS-1731.
  27. "ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease."
    Hong S.H., Rhyne J., Zeller K., Miller M.
    Atherosclerosis 164:245-250(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HDLD2 LEU-85.
  28. "Novel ABCA1 compound variant associated with HDL cholesterol deficiency."
    Hong S.H., Rhyne J., Zeller K., Miller M.
    Biochim. Biophys. Acta 1587:60-64(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HDLD2 TYR-1099 AND SER-2009.
  29. "Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency."
    Nishida Y., Hirano K., Tsukamoto K., Nagano M., Ikegami C., Roomp K., Ishihara M., Sakane N., Zhang Z., Tsujii K., Matsuyama A., Ohama T., Matsuura F., Ishigami M., Sakai N., Hiraoka H., Hattori H., Wellington C.
    , Yoshida Y., Misugi S., Hayden M.R., Egashira T., Yamashita S., Matsuzawa Y.
    Biochem. Biophys. Res. Commun. 290:713-721(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HDLD1 THR-255, VARIANT ATHEROSCLEROSIS ASP-1611.
  30. "Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T."
    Hong S.H., Riley W., Rhyne J., Friel G., Miller M.
    Clin. Chem. 48:2066-2070(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HDLD1 LEU-590.
  31. "Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease."
    Guo Z., Inazu A., Yu W., Suzumura T., Okamoto M., Nohara A., Higashikata T., Sano R., Wakasugi K., Hayakawa T., Yoshida K., Suehiro T., Schmitz G., Mabuchi H.
    J. Hum. Genet. 47:325-329(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HDLD1 HIS-935 AND SER-935.
  32. "Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis."
    Ishii J., Nagano M., Kujiraoka T., Ishihara M., Egashira T., Takada D., Tsuji M., Hattori H., Emi M.
    J. Hum. Genet. 47:366-369(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HDLD1 TRP-1680.
  33. "Novel polypyrimidine variation (IVS46: del T -39._.-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease."
    Hong S.H., Rhyne J., Miller M.
    Circ. Res. 93:1006-1012(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HDLD1 GLN-1851.
  34. "ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore."
    Tan J.H., Low P.S., Tan Y.S., Tong M.C., Saha N., Yang H., Heng C.K.
    Hum. Genet. 113:106-117(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ILE-825 AND MET-883, ASSOCIATION OF VARIANTS ILE-825 AND MET-883 WITH HIGHER PLASMA HDL CHOLESTEROL.
  35. "Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors."
    Morabia A., Cayanis E., Costanza M.C., Ross B.M., Flaherty M.S., Alvin G.B., Das K., Gilliam T.C.
    Hum. Mol. Genet. 12:2733-2743(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LYS-219; MET-771; ILE-825; MET-883; ASP-1172; PHE-1181 AND ARG-1587.
  36. "A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia."
    Cenarro A., Artieda M., Castillo S., Mozas P., Reyes G., Tejedor D., Alonso R., Mata P., Pocovi M., Civeira F.
    J. Med. Genet. 40:163-168(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LYS-219.
  37. Cited for: VARIANTS HDLD1 LEU-590; ARG-840 AND CYS-1068, VARIANTS MET-771; SER-2163 AND ILE-2244.
  38. Cited for: VARIANTS HDLD1 LYS-284; CYS-482; HIS-1800; SER-1901 AND HIS-2196.
  39. "Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency."
    Albrecht C., Baynes K., Sardini A., Schepelmann S., Eden E.R., Davies S.W., Higgins C.F., Feher M.D., Owen J.S., Soutar A.K.
    Biochim. Biophys. Acta 1689:47-57(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HDLD1 PHE-1379 AND ASP-1704, CHARACTERIZATION OF VARIANTS HDLD1 PHE-1379 AND ASP-1704.
  40. "Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population."
    Frikke-Schmidt R., Nordestgaard B.G., Jensen G.B., Tybjaerg-Hansen A.
    J. Clin. Invest. 114:1343-1353(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HDLD1 HIS-1800, VARIANTS LYS-219; CYS-364; MET-771; PRO-774; ASN-776; ILE-825; MET-883; SER-1065; ASP-1172; VAL-1216 AND ARG-1587.
  41. "Multiple rare alleles contribute to low plasma levels of HDL cholesterol."
    Cohen J.C., Kiss R.S., Pertsemlidis A., Marcel Y.L., McPherson R., Hobbs H.H.
    Science 305:869-872(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HDLD1 HIS-1800, VARIANTS ALA-248; GLN-401; TRP-496; SER-590; GLN-638; SER-774; GLY-815; PHE-1181; THR-1341; GLY-1376; GLN-1615; THR-1670; GLN-1680 AND GLU-2243.
  42. "A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome."
    Albrecht C., McVey J.H., Elliott J.I., Sardini A., Kasza I., Mumford A.D., Naoumova R.P., Tuddenham E.G., Szabo K., Higgins C.F.
    Blood 106:542-549(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SCOTT SYNDROME GLN-1925, CHARACTERIZATION OF VARIANT SCOTT SYNDROME GLN-1925.
  43. "Mutation in ABCA1 predicted risk of ischemic heart disease in the Copenhagen City Heart Study Population."
    Frikke-Schmidt R., Nordestgaard B.G., Schnohr P., Steffensen R., Tybjaerg-Hansen A.
    J. Am. Coll. Cardiol. 46:1516-1520(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASN-776, ASSOCIATION OF VARIANT ASN-776 WITH INCREASED RISK OF ISCHEMIC HEART DISEASE.
  44. "Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency."
    Fasano T., Bocchi L., Pisciotta L., Bertolini S., Calandra S.
    J. Lipid Res. 46:817-822(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HDLD2 TRP-1897.
  45. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ASP-210; TYR-917; THR-1407 AND THR-2109.

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: October 29, 2014
This is version 162 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

External Data

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