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O95477

- ABCA1_HUMAN

UniProt

O95477 - ABCA1_HUMAN

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
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    • History
      Entry version 161 (01 Oct 2014)
      Sequence version 3 (05 Oct 2010)
      Previous versions | rss
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    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. protein binding Source: IntAct
    13. receptor binding Source: BHF-UCL
    14. small GTPase binding Source: BHF-UCL
    15. 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

    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. cell surface Source: Ensembl
    2. endocytic vesicle Source: BHF-UCL
    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

    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.
    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

    ArrayExpressiO95477.
    BgeeiO95477.
    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

    Protein-protein interaction databases

    BioGridi106537. 24 interactions.
    DIPiDIP-29211N.
    IntActiO95477. 19 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.
    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

    MACWPQLRLL LWKNLTFRRR QTCQLLLEVA WPLFIFLILI SVRLSYPPYE     50
    QHECHFPNKA MPSAGTLPWV QGIICNANNP CFRYPTPGEA PGVVGNFNKS 100
    IVARLFSDAR RLLLYSQKDT SMKDMRKVLR TLQQIKKSSS NLKLQDFLVD 150
    NETFSGFLYH NLSLPKSTVD KMLRADVILH KVFLQGYQLH LTSLCNGSKS 200
    EEMIQLGDQE VSELCGLPRE KLAAAERVLR SNMDILKPIL RTLNSTSPFP 250
    SKELAEATKT LLHSLGTLAQ ELFSMRSWSD MRQEVMFLTN VNSSSSSTQI 300
    YQAVSRIVCG HPEGGGLKIK SLNWYEDNNY KALFGGNGTE EDAETFYDNS 350
    TTPYCNDLMK NLESSPLSRI IWKALKPLLV GKILYTPDTP ATRQVMAEVN 400
    KTFQELAVFH DLEGMWEELS PKIWTFMENS QEMDLVRMLL DSRDNDHFWE 450
    QQLDGLDWTA QDIVAFLAKH PEDVQSSNGS VYTWREAFNE TNQAIRTISR 500
    FMECVNLNKL EPIATEVWLI NKSMELLDER KFWAGIVFTG ITPGSIELPH 550
    HVKYKIRMDI DNVERTNKIK DGYWDPGPRA DPFEDMRYVW GGFAYLQDVV 600
    EQAIIRVLTG TEKKTGVYMQ QMPYPCYVDD IFLRVMSRSM PLFMTLAWIY 650
    SVAVIIKGIV YEKEARLKET MRIMGLDNSI LWFSWFISSL IPLLVSAGLL 700
    VVILKLGNLL PYSDPSVVFV FLSVFAVVTI LQCFLISTLF SRANLAAACG 750
    GIIYFTLYLP YVLCVAWQDY VGFTLKIFAS LLSPVAFGFG CEYFALFEEQ 800
    GIGVQWDNLF ESPVEEDGFN LTTSVSMMLF DTFLYGVMTW YIEAVFPGQY 850
    GIPRPWYFPC TKSYWFGEES DEKSHPGSNQ KRISEICMEE EPTHLKLGVS 900
    IQNLVKVYRD GMKVAVDGLA LNFYEGQITS FLGHNGAGKT TTMSILTGLF 950
    PPTSGTAYIL GKDIRSEMST IRQNLGVCPQ HNVLFDMLTV EEHIWFYARL 1000
    KGLSEKHVKA EMEQMALDVG LPSSKLKSKT SQLSGGMQRK LSVALAFVGG 1050
    SKVVILDEPT AGVDPYSRRG IWELLLKYRQ GRTIILSTHH MDEADVLGDR 1100
    IAIISHGKLC CVGSSLFLKN QLGTGYYLTL VKKDVESSLS SCRNSSSTVS 1150
    YLKKEDSVSQ SSSDAGLGSD HESDTLTIDV SAISNLIRKH VSEARLVEDI 1200
    GHELTYVLPY EAAKEGAFVE LFHEIDDRLS DLGISSYGIS ETTLEEIFLK 1250
    VAEESGVDAE TSDGTLPARR NRRAFGDKQS CLRPFTEDDA ADPNDSDIDP 1300
    ESRETDLLSG MDGKGSYQVK GWKLTQQQFV ALLWKRLLIA RRSRKGFFAQ 1350
    IVLPAVFVCI ALVFSLIVPP FGKYPSLELQ PWMYNEQYTF VSNDAPEDTG 1400
    TLELLNALTK DPGFGTRCME GNPIPDTPCQ AGEEEWTTAP VPQTIMDLFQ 1450
    NGNWTMQNPS PACQCSSDKI KKMLPVCPPG AGGLPPPQRK QNTADILQDL 1500
    TGRNISDYLV KTYVQIIAKS LKNKIWVNEF RYGGFSLGVS NTQALPPSQE 1550
    VNDAIKQMKK HLKLAKDSSA DRFLNSLGRF MTGLDTKNNV KVWFNNKGWH 1600
    AISSFLNVIN NAILRANLQK GENPSHYGIT AFNHPLNLTK QQLSEVALMT 1650
    TSVDVLVSIC VIFAMSFVPA SFVVFLIQER VSKAKHLQFI SGVKPVIYWL 1700
    SNFVWDMCNY VVPATLVIII FICFQQKSYV SSTNLPVLAL LLLLYGWSIT 1750
    PLMYPASFVF KIPSTAYVVL TSVNLFIGIN GSVATFVLEL FTDNKLNNIN 1800
    DILKSVFLIF PHFCLGRGLI DMVKNQAMAD ALERFGENRF VSPLSWDLVG 1850
    RNLFAMAVEG VVFFLITVLI QYRFFIRPRP VNAKLSPLND EDEDVRRERQ 1900
    RILDGGGQND ILEIKELTKI YRRKRKPAVD RICVGIPPGE CFGLLGVNGA 1950
    GKSSTFKMLT GDTTVTRGDA FLNKNSILSN IHEVHQNMGY CPQFDAITEL 2000
    LTGREHVEFF ALLRGVPEKE VGKVGEWAIR KLGLVKYGEK YAGNYSGGNK 2050
    RKLSTAMALI GGPPVVFLDE PTTGMDPKAR RFLWNCALSV VKEGRSVVLT 2100
    SHSMEECEAL CTRMAIMVNG RFRCLGSVQH LKNRFGDGYT IVVRIAGSNP 2150
    DLKPVQDFFG LAFPGSVLKE KHRNMLQYQL PSSLSSLARI FSILSQSKKR 2200
    LHIEDYSVSQ TTLDQVFVNF AKDQSDDDHL KDLSLHKNQT VVDVAVLTSF 2250
    LQDEKVKESY V 2261
    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.
    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. 19 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.
    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

    ArrayExpressi O95477.
    Bgeei O95477.
    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

    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 1, 2014
    This is version 161 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

    Dasty 3