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O95477 (ABCA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 155. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ABCA1
Synonyms:ABC1, CERP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2261 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with MEGF10. Ref.11

Subcellular location

Membrane; Multi-pass membrane protein Ref.13 Ref.14.

Tissue specificity

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. Ref.10

Domain

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

Post-translational modification

Phosphorylation on Ser-2054 regulates phospholipid efflux.

Palmitoylation by DHHC8 is essential for membrane localization. Ref.13

Polymorphism

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.24 Ref.25 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.37 Ref.38 Ref.39 Ref.40 Ref.41 Ref.43

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16 Ref.17 Ref.19 Ref.21 Ref.27 Ref.28 Ref.43 Ref.44

Sequence similarities

Belongs to the ABC transporter superfamily. ABCA family.

Contains 2 ABC transporter domains.

Sequence caution

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.

Ontologies

Keywords
   Biological processCholesterol metabolism
Lipid metabolism
Steroid metabolism
Sterol metabolism
Transport
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DiseaseAtherosclerosis
Disease mutation
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
   PTMDisulfide bond
Glycoprotein
Lipoprotein
Palmitate
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP catabolic process

Inferred from electronic annotation. Source: GOC

G-protein coupled receptor signaling pathway

Inferred from mutant phenotype PubMed 16443932. Source: BHF-UCL

cellular lipid metabolic process

Traceable author statement. Source: Reactome

cellular response to cholesterol

Inferred from electronic annotation. Source: Ensembl

cellular response to lipopolysaccharide

Inferred from electronic annotation. Source: Ensembl

cellular response to retinoic acid

Inferred from electronic annotation. Source: Ensembl

cholesterol efflux

Inferred from direct assay Ref.17PubMed 11162594. Source: BHF-UCL

cholesterol homeostasis

Inferred from direct assay Ref.17. Source: BHF-UCL

cholesterol metabolic process

Inferred from direct assay PubMed 14747463. Source: BHF-UCL

endosomal transport

Inferred from direct assay PubMed 14747463. Source: BHF-UCL

high-density lipoprotein particle assembly

Inferred from mutant phenotype Ref.17PubMed 17305370. Source: BHF-UCL

interleukin-1 beta secretion

Inferred from mutant phenotype PubMed 11855831. Source: BHF-UCL

intracellular cholesterol transport

Inferred from mutant phenotype Ref.17. Source: BHF-UCL

lipoprotein metabolic process

Traceable author statement. Source: Reactome

lysosome organization

Inferred from direct assay PubMed 15163665. Source: BHF-UCL

negative regulation of cholesterol storage

Traceable author statement PubMed 18490524. Source: BHF-UCL

negative regulation of macrophage derived foam cell differentiation

Traceable author statement PubMed 18490524. Source: BHF-UCL

peptide secretion

Inferred from electronic annotation. Source: Ensembl

phagocytosis, engulfment

Inferred from electronic annotation. Source: Ensembl

phospholipid efflux

Inferred from direct assay Ref.17PubMed 11162594. Source: BHF-UCL

phospholipid homeostasis

Inferred from mutant phenotype PubMed 16702602. Source: BHF-UCL

phospholipid translocation

Inferred from electronic annotation. Source: Ensembl

platelet dense granule organization

Inferred from mutant phenotype PubMed 15163665. Source: BHF-UCL

positive regulation of cAMP biosynthetic process

Inferred from mutant phenotype PubMed 14701824. Source: BHF-UCL

positive regulation of cholesterol efflux

Inferred from electronic annotation. Source: Ensembl

protein lipidation

Inferred from electronic annotation. Source: Ensembl

regulation of Cdc42 protein signal transduction

Inferred from mutant phenotype PubMed 16443932. Source: BHF-UCL

response to drug

Inferred from electronic annotation. Source: Ensembl

response to laminar fluid shear stress

Inferred from expression pattern PubMed 15358760. Source: BHF-UCL

response to low-density lipoprotein particle

Inferred from expression pattern PubMed 15358760. Source: BHF-UCL

response to nutrient

Inferred from electronic annotation. Source: Ensembl

reverse cholesterol transport

Inferred from mutant phenotype Ref.17. Source: BHF-UCL

   Cellular_componentGolgi apparatus

Inferred from electronic annotation. Source: Ensembl

cell surface

Inferred from electronic annotation. Source: Ensembl

integral component of plasma membrane

Inferred from direct assay PubMed 10525055. Source: BHF-UCL

membrane raft

Inferred from direct assay PubMed 15469992. Source: BHF-UCL

phagocytic vesicle

Inferred from direct assay PubMed 15469992. Source: BHF-UCL

   Molecular_functionATP binding

Inferred from direct assay PubMed 11700048. Source: BHF-UCL

ATPase activity

Inferred from electronic annotation. Source: InterPro

anion transmembrane transporter activity

Inferred from sequence or structural similarity. Source: BHF-UCL

apolipoprotein A-I receptor activity

Inferred from direct assay PubMed 16443932. Source: BHF-UCL

cholesterol binding

Inferred by curator PubMed 12084722. Source: BHF-UCL

cholesterol transporter activity

Inferred from direct assay PubMed 12084722. Source: BHF-UCL

phospholipid binding

Inferred by curator PubMed 16702602. Source: BHF-UCL

phospholipid transporter activity

Inferred from direct assay PubMed 16702602. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 22612261ATP-binding cassette sub-family A member 1
PRO_0000093288

Regions

Transmembrane22 – 4221Helical; Potential
Topological domain43 – 639597Extracellular
Transmembrane640 – 66021Helical; Potential
Transmembrane683 – 70321Helical; Potential
Transmembrane716 – 73621Helical; Potential
Transmembrane745 – 76521Helical; Potential
Transmembrane777 – 79721Helical; Potential
Transmembrane827 – 84721Helical; Potential
Transmembrane1041 – 105717Helical; Potential
Transmembrane1351 – 137121Helical; Potential
Topological domain1372 – 1656285Extracellular
Transmembrane1657 – 167721Helical; Potential
Transmembrane1703 – 172321Helical; Potential
Transmembrane1735 – 175521Helical; Potential
Transmembrane1768 – 178821Helical; Potential
Transmembrane1802 – 182221Helical; Potential
Transmembrane1852 – 187221Helical; Potential
Domain899 – 1131233ABC transporter 1
Domain1912 – 2144233ABC transporter 2
Nucleotide binding933 – 9408ATP 1 Potential
Nucleotide binding1946 – 19538ATP 2 Potential

Amino acid modifications

Modified residue10421Phosphoserine; by PKA Ref.8
Modified residue12961Phosphoserine By similarity
Modified residue20541Phosphoserine; by PKA Ref.8
Lipidation31S-palmitoyl cysteine Ref.13
Lipidation231S-palmitoyl cysteine Ref.13
Lipidation11101S-palmitoyl cysteine Ref.13
Lipidation11111S-palmitoyl cysteine Ref.13
Glycosylation141N-linked (GlcNAc...) Potential
Glycosylation981N-linked (GlcNAc...) Ref.15
Glycosylation1511N-linked (GlcNAc...) Potential
Glycosylation1611N-linked (GlcNAc...) Potential
Glycosylation1961N-linked (GlcNAc...) Potential
Glycosylation2441N-linked (GlcNAc...) Ref.15
Glycosylation2921N-linked (GlcNAc...) Potential
Glycosylation3371N-linked (GlcNAc...) Potential
Glycosylation3491N-linked (GlcNAc...) Potential
Glycosylation4001N-linked (GlcNAc...) Potential
Glycosylation4781N-linked (GlcNAc...) Potential
Glycosylation4891N-linked (GlcNAc...) Potential
Glycosylation5211N-linked (GlcNAc...) Potential
Glycosylation8201N-linked (GlcNAc...) Potential
Glycosylation11441N-linked (GlcNAc...) Potential
Glycosylation12941N-linked (GlcNAc...) Potential
Glycosylation14531N-linked (GlcNAc...) Potential
Glycosylation15041N-linked (GlcNAc...) Potential
Glycosylation16371N-linked (GlcNAc...) Potential
Glycosylation20441N-linked (GlcNAc...) Potential
Glycosylation22381N-linked (GlcNAc...) Potential
Disulfide bond75 ↔ 309 Ref.14
Disulfide bond1463 ↔ 1477 Ref.14

Natural variations

Natural variant851P → L in HDLD2; Alabama. Ref.27
Corresponds to variant rs145183203 [ dbSNP | Ensembl ].
VAR_017529
Natural variant2101E → D in a colorectal cancer sample; somatic mutation. Ref.45
VAR_035724
Natural variant2191R → K Common polymorphism; associated with a decreased severity of CAD. Ref.21 Ref.23 Ref.25 Ref.26 Ref.35 Ref.36 Ref.40
Corresponds to variant rs2230806 [ dbSNP | Ensembl ].
VAR_012618
Natural variant2301R → C in HDLD2. Ref.21
Corresponds to variant rs9282541 [ dbSNP | Ensembl ].
VAR_012619
Natural variant2481P → A. Ref.41
VAR_062481
Natural variant2551A → T in HDLD1; deficient cellular cholesterol efflux. Ref.29
VAR_012620
Natural variant2841E → K in HDLD1. Ref.38
VAR_062482
Natural variant3641S → C. Ref.40
VAR_062483
Natural variant3991V → A. Ref.18 Ref.26
Corresponds to variant rs9282543 [ dbSNP | Ensembl ].
VAR_009145
Natural variant4011K → Q. Ref.41
VAR_062484
Natural variant4821Y → C in HDLD1. Ref.38
VAR_062485
Natural variant4961R → W Associated with increased plasma HDL cholesterol. Ref.41
Corresponds to variant rs147675550 [ dbSNP | Ensembl ].
VAR_062486
Natural variant5871R → W in HDLD1. Ref.22
Corresponds to variant rs2853574 [ dbSNP | Ensembl ].
VAR_009146
Natural variant5901W → L in HDLD1. Ref.30 Ref.37
VAR_062487
Natural variant5901W → S in HDLD1. Ref.18 Ref.41
VAR_009147
Natural variant5971Q → R in HDLD1. Ref.17 Ref.19
Corresponds to variant rs2853578 [ dbSNP | Ensembl ].
VAR_009148
Natural variant6381R → Q Associated with reduced plasma HDL cholesterol. Ref.41
VAR_062488
Natural variant6931Missing in HDLD2. Ref.17 Ref.19
VAR_009149
Natural variant7711V → M Associated with HDL cholesterol. Ref.26 Ref.35 Ref.37 Ref.40
Corresponds to variant rs2066718 [ dbSNP | Ensembl ].
VAR_012621
Natural variant7741T → P. Ref.26 Ref.40
Corresponds to variant rs35819696 [ dbSNP | Ensembl ].
VAR_012622
Natural variant7741T → S. Ref.41
VAR_062489
Natural variant7761K → N May be associated with increased risk of ischemic heart disease. Ref.26 Ref.40 Ref.43
Corresponds to variant rs138880920 [ dbSNP | Ensembl ].
VAR_012623
Natural variant8151E → G Associated with reduced plasma HDL cholesterol. Ref.41
Corresponds to variant rs145582736 [ dbSNP | Ensembl ].
VAR_062490
Natural variant8251V → I Associated with higher plasma cholesterol. Ref.21 Ref.26 Ref.34 Ref.35 Ref.40
Corresponds to variant rs2066715 [ dbSNP | Ensembl ].
VAR_012624
Natural variant8401W → R in HDLD1. Ref.37
VAR_062491
Natural variant8831I → M Associated with higher plasma cholesterol. Ref.18 Ref.21 Ref.23 Ref.26 Ref.34 Ref.35 Ref.40
Corresponds to variant rs2066714 [ dbSNP | Ensembl ].
VAR_012625
Natural variant9171D → Y in a colorectal cancer sample; somatic mutation. Ref.45
VAR_035725
Natural variant9291T → I in HDLD1. Ref.19
VAR_012626
Natural variant9351N → H in HDLD1. Ref.31
Corresponds to variant rs28937314 [ dbSNP | Ensembl ].
VAR_037968
Natural variant9351N → S in HDLD1. Ref.18 Ref.31
Corresponds to variant rs28937313 [ dbSNP | Ensembl ].
VAR_009150
Natural variant9371A → V in HDLD1. Ref.18
VAR_009151
Natural variant10461A → D in HDLD1. Ref.21
VAR_012627
Natural variant10541V → I.
Corresponds to variant rs13306072 [ dbSNP | Ensembl ].
VAR_037969
Natural variant10651P → S. Ref.40
VAR_062492
Natural variant10681R → C in HDLD1. Ref.37
VAR_062493
Natural variant10911M → T in HDLD2. Ref.16 Ref.19
VAR_012628
Natural variant10991D → Y in HDLD2. Ref.28
Corresponds to variant rs28933692 [ dbSNP | Ensembl ].
VAR_017530
Natural variant11721E → D Associated with premature coronary heart disease. Ref.23 Ref.26 Ref.35 Ref.40
Corresponds to variant rs33918808 [ dbSNP | Ensembl ].
VAR_012629
Natural variant11811S → F Associated with reduced plasma HDL cholesterol. Ref.35 Ref.41
Corresponds to variant rs76881554 [ dbSNP | Ensembl ].
VAR_017016
Natural variant12161G → V. Ref.40
VAR_062494
Natural variant12891D → N in HDLD1. Ref.20 Ref.25
VAR_009152
Natural variant13411R → T Associated with reduced plasma HDL cholesterol. Ref.41
Corresponds to variant rs147743782 [ dbSNP | Ensembl ].
VAR_062495
Natural variant13761S → G. Ref.41
VAR_062496
Natural variant13791L → F in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. Ref.39
VAR_062497
Natural variant14071A → T in a colorectal cancer sample; somatic mutation. Ref.45
VAR_035726
Natural variant14771C → R in HDLD1. Ref.17 Ref.19
VAR_009153
Natural variant15061S → L in HDLD1. Ref.24
VAR_012630
Natural variant15171I → R in HDLD1.
VAR_009154
Natural variant15551I → T. Ref.6 Ref.7
Corresponds to variant rs1997618 [ dbSNP | Ensembl ].
VAR_012638
Natural variant15871K → R Associated with HDL cholesterol. Ref.1 Ref.2 Ref.3 Ref.6 Ref.7 Ref.21 Ref.26 Ref.35 Ref.40
Corresponds to variant rs2230808 [ dbSNP | Ensembl ].
VAR_012631
Natural variant16111N → D Probable disease-associated mutation; associated with atherosclerosis; deficient cellular cholesterol efflux. Ref.29
VAR_012632
Natural variant16151R → Q Associated with reduced plasma HDL cholesterol. Ref.41
VAR_062498
Natural variant16481L → P. Ref.6 Ref.7
Corresponds to variant rs1883024 [ dbSNP | Ensembl ].
VAR_012639
Natural variant16701A → T Associated with reduced plasma HDL cholesterol. Ref.41
VAR_062499
Natural variant16801R → Q Associated with increased plasma HDL cholesterol. Ref.41
Corresponds to variant rs150125857 [ dbSNP | Ensembl ].
VAR_062500
Natural variant16801R → W in HDLD1. Ref.32
Corresponds to variant rs137854498 [ dbSNP | Ensembl ].
VAR_037970
Natural variant17041V → D in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane. Ref.39
VAR_062501
Natural variant17311S → C. Ref.26
VAR_012633
Natural variant18001N → H in HDLD1. Ref.20 Ref.38 Ref.40 Ref.41
VAR_009155
Natural variant18511R → Q in HDLD1. Ref.33
VAR_062502
Natural variant1893 – 18942Missing in HDLD2.
VAR_012634
Natural variant18971R → W in HDLD2; uncertain pathological significance. Ref.44
VAR_062503
Natural variant19011R → S in HDLD1. Ref.38
VAR_062504
Natural variant19251R → Q in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane. Ref.42
Corresponds to variant rs142688906 [ dbSNP | Ensembl ].
VAR_062505
Natural variant20091F → S in HDLD2. Ref.28
VAR_037971
Natural variant20811R → W in HDLD1. Ref.25
VAR_012635
Natural variant21091A → T in a colorectal cancer sample; somatic mutation. Ref.45
VAR_035727
Natural variant21501P → L in HDLD2. Ref.19
VAR_012636
Natural variant21631F → S Could be associated with reduced plasma HDL cholesterol. Ref.37
VAR_062506
Natural variant21681L → P. Ref.6 Ref.7 Ref.22
Corresponds to variant rs2853577 [ dbSNP | Ensembl ].
VAR_012637
Natural variant21961Q → H in HDLD1. Ref.38
VAR_062507
Natural variant22431D → E. Ref.41
Corresponds to variant rs34879708 [ dbSNP | Ensembl ].
VAR_062508
Natural variant22441V → I Could be associated with reduced plasma HDL cholesterol. Ref.37
Corresponds to variant rs144588452 [ dbSNP | Ensembl ].
VAR_062509

Experimental info

Sequence conflict7931Y → C in AAK43526. Ref.3
Sequence conflict8311D → N in AAK43526. Ref.3
Sequence conflict10051E → K in AAK43526. Ref.3
Sequence conflict1745 – 17462Missing in AAD49852. Ref.7

Sequences

Sequence LengthMass (Da)Tools
O95477 [UniParc].

Last modified October 5, 2010. Version 3.
Checksum: 21A2CF8F3F518D6D

FASTA2,261254,302
        10         20         30         40         50         60 
MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE QHECHFPNKA 

        70         80         90        100        110        120 
MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS IVARLFSDAR RLLLYSQKDT 

       130        140        150        160        170        180 
SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD NETFSGFLYH NLSLPKSTVD KMLRADVILH 

       190        200        210        220        230        240 
KVFLQGYQLH LTSLCNGSKS EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL 

       250        260        270        280        290        300 
RTLNSTSPFP SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI 

       310        320        330        340        350        360 
YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS TTPYCNDLMK 

       370        380        390        400        410        420 
NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN KTFQELAVFH DLEGMWEELS 

       430        440        450        460        470        480 
PKIWTFMENS QEMDLVRMLL DSRDNDHFWE QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS 

       490        500        510        520        530        540 
VYTWREAFNE TNQAIRTISR FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG 

       550        560        570        580        590        600 
ITPGSIELPH HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV 

       610        620        630        640        650        660 
EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY SVAVIIKGIV 

       670        680        690        700        710        720 
YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL VVILKLGNLL PYSDPSVVFV 

       730        740        750        760        770        780 
FLSVFAVVTI LQCFLISTLF SRANLAAACG GIIYFTLYLP YVLCVAWQDY VGFTLKIFAS 

       790        800        810        820        830        840 
LLSPVAFGFG CEYFALFEEQ GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW 

       850        860        870        880        890        900 
YIEAVFPGQY GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEICMEE EPTHLKLGVS 

       910        920        930        940        950        960 
IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF PPTSGTAYIL 

       970        980        990       1000       1010       1020 
GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL KGLSEKHVKA EMEQMALDVG 

      1030       1040       1050       1060       1070       1080 
LPSSKLKSKT SQLSGGMQRK LSVALAFVGG SKVVILDEPT AGVDPYSRRG IWELLLKYRQ 

      1090       1100       1110       1120       1130       1140 
GRTIILSTHH MDEADVLGDR IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS 

      1150       1160       1170       1180       1190       1200 
SCRNSSSTVS YLKKEDSVSQ SSSDAGLGSD HESDTLTIDV SAISNLIRKH VSEARLVEDI 

      1210       1220       1230       1240       1250       1260 
GHELTYVLPY EAAKEGAFVE LFHEIDDRLS DLGISSYGIS ETTLEEIFLK VAEESGVDAE 

      1270       1280       1290       1300       1310       1320 
TSDGTLPARR NRRAFGDKQS CLRPFTEDDA ADPNDSDIDP ESRETDLLSG MDGKGSYQVK 

      1330       1340       1350       1360       1370       1380 
GWKLTQQQFV ALLWKRLLIA RRSRKGFFAQ IVLPAVFVCI ALVFSLIVPP FGKYPSLELQ 

      1390       1400       1410       1420       1430       1440 
PWMYNEQYTF VSNDAPEDTG TLELLNALTK DPGFGTRCME GNPIPDTPCQ AGEEEWTTAP 

      1450       1460       1470       1480       1490       1500 
VPQTIMDLFQ NGNWTMQNPS PACQCSSDKI KKMLPVCPPG AGGLPPPQRK QNTADILQDL 

      1510       1520       1530       1540       1550       1560 
TGRNISDYLV KTYVQIIAKS LKNKIWVNEF RYGGFSLGVS NTQALPPSQE VNDAIKQMKK 

      1570       1580       1590       1600       1610       1620 
HLKLAKDSSA DRFLNSLGRF MTGLDTKNNV KVWFNNKGWH AISSFLNVIN NAILRANLQK 

      1630       1640       1650       1660       1670       1680 
GENPSHYGIT AFNHPLNLTK QQLSEVALMT TSVDVLVSIC VIFAMSFVPA SFVVFLIQER 

      1690       1700       1710       1720       1730       1740 
VSKAKHLQFI SGVKPVIYWL SNFVWDMCNY VVPATLVIII FICFQQKSYV SSTNLPVLAL 

      1750       1760       1770       1780       1790       1800 
LLLLYGWSIT PLMYPASFVF KIPSTAYVVL TSVNLFIGIN GSVATFVLEL FTDNKLNNIN 

      1810       1820       1830       1840       1850       1860 
DILKSVFLIF PHFCLGRGLI DMVKNQAMAD ALERFGENRF VSPLSWDLVG RNLFAMAVEG 

      1870       1880       1890       1900       1910       1920 
VVFFLITVLI QYRFFIRPRP VNAKLSPLND EDEDVRRERQ RILDGGGQND ILEIKELTKI 

      1930       1940       1950       1960       1970       1980 
YRRKRKPAVD RICVGIPPGE CFGLLGVNGA GKSSTFKMLT GDTTVTRGDA FLNKNSILSN 

      1990       2000       2010       2020       2030       2040 
IHEVHQNMGY CPQFDAITEL LTGREHVEFF ALLRGVPEKE VGKVGEWAIR KLGLVKYGEK 

      2050       2060       2070       2080       2090       2100 
YAGNYSGGNK RKLSTAMALI GGPPVVFLDE PTTGMDPKAR RFLWNCALSV VKEGRSVVLT 

      2110       2120       2130       2140       2150       2160 
SHSMEECEAL CTRMAIMVNG RFRCLGSVQH LKNRFGDGYT IVVRIAGSNP DLKPVQDFFG 

      2170       2180       2190       2200       2210       2220 
LAFPGSVLKE KHRNMLQYQL PSSLSSLARI FSILSQSKKR LHIEDYSVSQ TTLDQVFVNF 

      2230       2240       2250       2260 
AKDQSDDDHL KDLSLHKNQT VVDVAVLTSF LQDEKVKESY V 

« Hide

References

« Hide 'large scale' references
[1]"Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter."
Santamarina-Fojo S., Peterson K.M., Knapper C.L., Qiu Y., Freeman L.A., Cheng J.-F., Osorio J., Remaley A.T., Yang X.-P., Haudenschild C.C., Prades C., Chimini G., Blackmon E.E., Francois T.L., Duverger N., Rubin E.M., Rosier M., Denefle P., Fredrickson D.S., Brewer H.B. Jr.
Proc. Natl. Acad. Sci. U.S.A. 97:7987-7992(2000) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux."
Marcil M., Brooks-Wilson A., Clee S.M., Roomp K., Zhang L.-H., Yu L., Collins J.A., van Dam M., Molhuizen H.O.F., Loubser O., Ouellette B.F.F., Sensen C.W., Fichter K., Mott S., Denis M., Boucher B., Pimstone S., Genest J. Jr., Kastelein J.J.P., Hayden M.R.
Lancet 354:1341-1346(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HDLD2 THR-1091 AND 1893-GLU-ASP-1894 DEL.
[17]"Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency."
Brooks-Wilson A., Marcil M., Clee S.M., Zhang L.-H., Roomp K., van Dam M., Yu L., Brewer C., Collins J.A., Molhuizen H.O.F., Loubser O., Ouelette B.F.F., Fichter K., Ashbourne-Excoffon K.J.D., Sensen C.W., Scherer S., Mott S., Denis M. expand/collapse author list , Martindale D., Frohlich J., Morgan K., Koop B., Pimstone S., Kastelein J.J.P., Hayden M.R.
Nat. Genet. 22:336-345(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HDLD1 ARG-597 AND ARG-1477, VARIANT HDLD2 LEU-693 DEL.
[18]"The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease."
Bodzioch M., Orso E., Klucken J., Langmann T., Boettcher A., Diederich W., Drobnik W., Barlage S., Buechler C., Porsch-Oezcueruemez M., Kaminski W.E., Hahmann H.W., Oette K., Rothe G., Aslanidis C., Lackner K.J., Schmitz G.
Nat. Genet. 22:347-351(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HDLD1 SER-590; SER-935 AND VAL-937, VARIANTS ALA-399 AND MET-883.
[19]"Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes."
Clee S.M., Kastelein J.J.P., van Dam M., Marcil M., Roomp K., Zwarts K.Y., Collins J.A., Roelants R., Tamasawa N., Stulc T., Suda T., Ceska R., Boucher B., Rondeau C., DeSouich C., Brooks-Wilson A., Molhuizen H.O.F., Frohlich J., Genest J. Jr., Hayden M.R.
J. Clin. Invest. 106:1263-1270(2000) [PubMed] [Europe PMC] [Abstract]
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]"Common and rare ABCA1 variants affecting plasma HDL cholesterol."
Wang J., Burnett J.R., Near S., Young K., Zinman B., Hanley A.J.G., Connelly P.W., Harris S.B., Hegele R.A.
Arterioscler. Thromb. Vasc. Biol. 20:1983-1989(2000) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Screening for functional sequence variations and mutations in ABCA1."
Probst M.C., Thumann H., Aslanidis C., Langmann T., Buechler C., Patsch W., Baralle F.E., Dallinga-Thie G.M., Geisel J., Keller C., Menys V.C., Schmitz G.
Atherosclerosis 175:269-279(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HDLD1 LEU-590; ARG-840 AND CYS-1068, VARIANTS MET-771; SER-2163 AND ILE-2244.
[38]"Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders."
Pisciotta L., Hamilton-Craig I., Tarugi P., Bellocchio A., Fasano T., Alessandrini P., Bon G.B., Siepi D., Mannarino E., Cattin L., Averna M., Cefalu A.B., Cantafora A., Calandra S., Bertolini S.
Atherosclerosis 172:309-320(2004) [PubMed] [Europe PMC] [Abstract]
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ASP-210; TYR-917; THR-1407 AND THR-2109.
+Additional computationally mapped references.

Web resources

GeneReviews
SHMPD

The Singapore human mutation and polymorphism database

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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 expand/collapse EMBL AC list , AF165282, AF165283, AF165284, AF165285 Genomic DNA. Translation: AAD49851.1.
AF165306 expand/collapse EMBL AC list , 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.
RefSeqNP_005493.2. NM_005502.3.
UniGeneHs.659274.

3D structure databases

ProteinModelPortalO95477.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106537. 24 interactions.
DIPDIP-29211N.
IntActO95477. 17 interactions.
MINTMINT-239561.

Chemistry

ChEMBLCHEMBL2362986.
DrugBankDB00171. Adenosine triphosphate.
DB01016. Glibenclamide.

PTM databases

PhosphoSiteO95477.

Proteomic databases

PaxDbO95477.
PRIDEO95477.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000374736; ENSP00000363868; ENSG00000165029.
GeneID19.
KEGGhsa:19.
UCSCuc004bcl.3. human.

Organism-specific databases

CTD19.
GeneCardsGC09M107543.
HGNCHGNC:29. ABCA1.
MIM205400. phenotype.
600046. gene+phenotype.
604091. phenotype.
neXtProtNX_O95477.
Orphanet425. Apolipoprotein A-I deficiency.
31150. Tangier disease.
PharmGKBPA24373.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOVERGENHBG050436.
InParanoidO95477.
KOK05641.
OMAFSMRSWS.
OrthoDBEOG78D7J6.
PhylomeDBO95477.
TreeFamTF105191.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
SignaLinkO95477.

Gene expression databases

ArrayExpressO95477.
BgeeO95477.
GenevestigatorO95477.

Family and domain databases

InterProIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR19229. PTHR19229. 1 hit.
PfamPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
PROSITEPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSABCA1. human.
GeneWikiABCA1.
GenomeRNAi19.
NextBio51.
PROO95477.
SOURCESearch...

Entry information

Entry nameABCA1_HUMAN
AccessionPrimary (citable) accession number: O95477
Secondary accession number(s): Q5VX33 expand/collapse secondary AC list , Q96S56, Q96T85, Q9NQV4, Q9UN06, Q9UN07, Q9UN08, Q9UN09
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: October 5, 2010
Last modified: March 19, 2014
This is version 155 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM