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Q8IZY2

- ABCA7_HUMAN

UniProt

Q8IZY2 - ABCA7_HUMAN

Protein

ATP-binding cassette sub-family A member 7

Gene

ABCA7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 3 (04 Dec 2007)
      Previous versions | rss
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    Functioni

    Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiation.4 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi841 – 8488ATP 1PROSITE-ProRule annotation
    Nucleotide bindingi1827 – 18348ATP 2PROSITE-ProRule annotation

    GO - Molecular functioni

    1. apolipoprotein A-I receptor activity Source: Alzheimers_University_of_Toronto
    2. ATPase activity Source: InterPro
    3. ATP binding Source: ProtInc
    4. phospholipid transporter activity Source: Ensembl
    5. transporter activity Source: ProtInc

    GO - Biological processi

    1. apolipoprotein A-I-mediated signaling pathway Source: Alzheimers_University_of_Toronto
    2. ATP catabolic process Source: GOC
    3. cholesterol efflux Source: Alzheimers_University_of_Toronto
    4. high-density lipoprotein particle assembly Source: Alzheimers_University_of_Toronto
    5. memory Source: Alzheimers_University_of_Toronto
    6. negative regulation of amyloid precursor protein biosynthetic process Source: Alzheimers_University_of_Toronto
    7. negative regulation of ATPase activity Source: Alzheimers_University_of_Toronto
    8. negative regulation of beta-amyloid formation Source: Alzheimers_University_of_Toronto
    9. peptide cross-linking Source: Alzheimers_University_of_Toronto
    10. phagocytosis Source: UniProtKB-KW
    11. phospholipid efflux Source: Alzheimers_University_of_Toronto
    12. phospholipid scrambling Source: Alzheimers_University_of_Toronto
    13. positive regulation of ATPase activity Source: Alzheimers_University_of_Toronto
    14. positive regulation of beta-amyloid clearance Source: Alzheimers_University_of_Toronto
    15. positive regulation of cholesterol efflux Source: Alzheimers_University_of_Toronto
    16. positive regulation of engulfment of apoptotic cell Source: Alzheimers_University_of_Toronto
    17. positive regulation of ERK1 and ERK2 cascade Source: Alzheimers_University_of_Toronto
    18. positive regulation of phagocytosis Source: Alzheimers_University_of_Toronto
    19. positive regulation of phospholipid efflux Source: Alzheimers_University_of_Toronto
    20. protein localization to nucleus Source: Alzheimers_University_of_Toronto
    21. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Phagocytosis, Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_111158. ABCA transporters in lipid homeostasis.

    Protein family/group databases

    TCDBi3.A.1.211.10. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-binding cassette sub-family A member 7
    Alternative name(s):
    ABCA-SSN
    Autoantigen SS-N
    Macrophage ABC transporter
    Gene namesi
    Name:ABCA7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:37. ABCA7.

    Subcellular locationi

    Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein
    Note: Localizes to cell membrane ruffles and phagocytic cups of macrophages stimulated with C1q or apoptotic cells. Localizes to the cytoplasm of resting macrophages, probably in Golgi and endosomes. Localizes to the apical brush border of cells in the proximal tubules of kidney. Isoform 2 may localize to the endoplasmic reticulum.

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. ATP-binding cassette (ABC) transporter complex Source: ProtInc
    3. cell surface Source: Alzheimers_University_of_Toronto
    4. cytoplasm Source: HPA
    5. endosome membrane Source: UniProtKB-SubCell
    6. Golgi apparatus Source: HPA
    7. Golgi membrane Source: UniProtKB-SubCell
    8. integral component of membrane Source: ProtInc
    9. phagocytic cup Source: Alzheimers_University_of_Toronto
    10. plasma membrane Source: Alzheimers_University_of_Toronto
    11. ruffle membrane Source: Alzheimers_University_of_Toronto

    Keywords - Cellular componenti

    Cell membrane, Endosome, Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24382.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 21462146ATP-binding cassette sub-family A member 7PRO_0000250674Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi75 ↔ 225By similarity
    Glycosylationi312 – 3121N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1345 ↔ 1359By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ8IZY2.
    PaxDbiQ8IZY2.
    PRIDEiQ8IZY2.

    PTM databases

    PhosphoSiteiQ8IZY2.

    Expressioni

    Tissue specificityi

    Expressed in leukocytes (at protein level). Widely expressed. Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow. Isoform 2 is more abundant in lymph node, spleen, thymus and trachea than isoform 1 which is more strongly expressed in brain and bone marrow.3 Publications

    Developmental stagei

    Expressed in fetal tissues. Strongly expressed in fetal liver.2 Publications

    Inductioni

    Up-regulated in macrophages upon cholesterol uptake and inversely regulated upon cholesterol deloading from the cells (at protein level). Up-regulated in keratinocytes during terminal differentiation.2 Publications

    Gene expression databases

    ArrayExpressiQ8IZY2.
    BgeeiQ8IZY2.
    CleanExiHS_ABCA7.
    GenevestigatoriQ8IZY2.

    Organism-specific databases

    HPAiHPA041564.

    Interactioni

    Protein-protein interaction databases

    BioGridi115629. 1 interaction.
    IntActiQ8IZY2. 1 interaction.
    STRINGi9606.ENSP00000263094.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IZY2.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini43 – 549507ExtracellularBy similarityAdd
    BLAST
    Topological domaini1264 – 1537274ExtracellularBy similarityAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei22 – 4221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei550 – 57021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei593 – 61321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei626 – 64621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei655 – 67521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei687 – 70721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei727 – 74721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei849 – 86921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1243 – 126321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1538 – 155821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1584 – 160421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1621 – 164121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1649 – 166921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1683 – 170321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1729 – 174921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini807 – 1038232ABC transporter 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini1793 – 2025233ABC transporter 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 2 ABC transporter domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1131.
    HOGENOMiHOG000231547.
    HOVERGENiHBG050436.
    InParanoidiQ8IZY2.
    KOiK05645.
    OMAiVRIKIRM.
    OrthoDBiEOG78D7J6.
    PhylomeDBiQ8IZY2.
    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]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IZY2-1) [UniParc]FASTAAdd to Basket

    Also known as: Type 1

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAFWTQLMLL LWKNFMYRRR QPVQLLVELL WPLFLFFILV AVRHSHPPLE     50
    HHECHFPNKP LPSAGTVPWL QGLICNVNNT CFPQLTPGEE PGRLSNFNDS 100
    LVSRLLADAR TVLGGASAHR TLAGLGKLIA TLRAARSTAQ PQPTKQSPLE 150
    PPMLDVAELL TSLLRTESLG LALGQAQEPL HSLLEAAEDL AQELLALRSL 200
    VELRALLQRP RGTSGPLELL SEALCSVRGP SSTVGPSLNW YEASDLMELV 250
    GQEPESALPD SSLSPACSEL IGALDSHPLS RLLWRRLKPL ILGKLLFAPD 300
    TPFTRKLMAQ VNRTFEELTL LRDVREVWEM LGPRIFTFMN DSSNVAMLQR 350
    LLQMQDEGRR QPRPGGRDHM EALRSFLDPG SGGYSWQDAH ADVGHLVGTL 400
    GRVTECLSLD KLEAAPSEAA LVSRALQLLA EHRFWAGVVF LGPEDSSDPT 450
    EHPTPDLGPG HVRIKIRMDI DVVTRTNKIR DRFWDPGPAA DPLTDLRYVW 500
    GGFVYLQDLV ERAAVRVLSG ANPRAGLYLQ QMPYPCYVDD VFLRVLSRSL 550
    PLFLTLAWIY SVTLTVKAVV REKETRLRDT MRAMGLSRAV LWLGWFLSCL 600
    GPFLLSAALL VLVLKLGDIL PYSHPGVVFL FLAAFAVATV TQSFLLSAFF 650
    SRANLAAACG GLAYFSLYLP YVLCVAWRDR LPAGGRVAAS LLSPVAFGFG 700
    CESLALLEEQ GEGAQWHNVG TRPTADVFSL AQVSGLLLLD AALYGLATWY 750
    LEAVCPGQYG IPEPWNFPFR RSYWCGPRPP KSPAPCPTPL DPKVLVEEAP 800
    PGLSPGVSVR SLEKRFPGSP QPALRGLSLD FYQGHITAFL GHNGAGKTTT 850
    LSILSGLFPP SGGSAFILGH DVRSSMAAIR PHLGVCPQYN VLFDMLTVDE 900
    HVWFYGRLKG LSAAVVGPEQ DRLLQDVGLV SKQSVQTRHL SGGMQRKLSV 950
    AIAFVGGSQV VILDEPTAGV DPASRRGIWE LLLKYREGRT LILSTHHLDE 1000
    AELLGDRVAV VAGGRLCCCG SPLFLRRHLG SGYYLTLVKA RLPLTTNEKA 1050
    DTDMEGSVDT RQEKKNGSQG SRVGTPQLLA LVQHWVPGAR LVEELPHELV 1100
    LVLPYTGAHD GSFATLFREL DTRLAELRLT GYGISDTSLE EIFLKVVEEC 1150
    AADTDMEDGS CGQHLCTGIA GLDVTLRLKM PPQETALENG EPAGSAPETD 1200
    QGSGPDAVGR VQGWALTRQQ LQALLLKRFL LARRSRRGLF AQIVLPALFV 1250
    GLALVFSLIV PPFGHYPALR LSPTMYGAQV SFFSEDAPGD PGRARLLEAL 1300
    LQEAGLEEPP VQHSSHRFSA PEVPAEVAKV LASGNWTPES PSPACQCSRP 1350
    GARRLLPDCP AAAGGPPPPQ AVTGSGEVVQ NLTGRNLSDF LVKTYPRLVR 1400
    QGLKTKKWVN EVRYGGFSLG GRDPGLPSGQ ELGRSVEELW ALLSPLPGGA 1450
    LDRVLKNLTA WAHSLDAQDS LKIWFNNKGW HSMVAFVNRA SNAILRAHLP 1500
    PGPARHAHSI TTLNHPLNLT KEQLSEGALM ASSVDVLVSI CVVFAMSFVP 1550
    ASFTLVLIEE RVTRAKHLQL MGGLSPTLYW LGNFLWDMCN YLVPACIVVL 1600
    IFLAFQQRAY VAPANLPALL LLLLLYGWSI TPLMYPASFF FSVPSTAYVV 1650
    LTCINLFIGI NGSMATFVLE LFSDQKLQEV SRILKQVFLI FPHFCLGRGL 1700
    IDMVRNQAMA DAFERLGDRQ FQSPLRWEVV GKNLLAMVIQ GPLFLLFTLL 1750
    LQHRSQLLPQ PRVRSLPLLG EEDEDVARER ERVVQGATQG DVLVLRNLTK 1800
    VYRGQRMPAV DRLCLGIPPG ECFGLLGVNG AGKTSTFRMV TGDTLASRGE 1850
    AVLAGHSVAR EPSAAHLSMG YCPQSDAIFE LLTGREHLEL LARLRGVPEA 1900
    QVAQTAGSGL ARLGLSWYAD RPAGTYSGGN KRKLATALAL VGDPAVVFLD 1950
    EPTTGMDPSA RRFLWNSLLA VVREGRSVML TSHSMEECEA LCSRLAIMVN 2000
    GRFRCLGSPQ HLKGRFAAGH TLTLRVPAAR SQPAAAFVAA EFPGAELREA 2050
    HGGRLRFQLP PGGRCALARV FGELAVHGAE HGVEDFSVSQ TMLEEVFLYF 2100
    SKDQGKDEDT EEQKEAGVGV DPAPGLQHPK RVSQFLDDPS TAETVL 2146
    Length:2,146
    Mass (Da):234,350
    Last modified:December 4, 2007 - v3
    Checksum:i6EA624088E74FEE6
    GO
    Isoform 2 (identifier: Q8IZY2-2) [UniParc]FASTAAdd to Basket

    Also known as: Type 2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-138: Missing.
         139-166: AQPQPTKQSPLEPPMLDVAELLTSLLRT → MVCLGTGQSAGPLVSVQNHCPPCGLSPQ

    Note: Inactive for apoA-I-mediated lipid release.

    Show »
    Length:2,008
    Mass (Da):218,497
    Checksum:i2B52CABF87220A7B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1503 – 15031P → R in AAF85794. (PubMed:10873640)Curated
    Sequence conflicti1503 – 15031P → R in BAB62294. (PubMed:11355874)Curated
    Sequence conflicti1525 – 15251S → F in AAF85794. (PubMed:10873640)Curated
    Sequence conflicti1525 – 15251S → F in AAN04657. (PubMed:11095984)Curated
    Sequence conflicti1525 – 15251S → F in BAB62294. (PubMed:11355874)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti188 – 1881E → G.2 Publications
    Corresponds to variant rs3764645 [ dbSNP | Ensembl ].
    VAR_027581
    Natural varianti319 – 3191T → A.1 Publication
    Corresponds to variant rs3752232 [ dbSNP | Ensembl ].
    VAR_027582
    Natural varianti395 – 3951H → R.1 Publication
    Corresponds to variant rs3764647 [ dbSNP | Ensembl ].
    VAR_027583
    Natural varianti463 – 4631R → H.1 Publication
    Corresponds to variant rs3752233 [ dbSNP | Ensembl ].
    VAR_027584
    Natural varianti676 – 6761A → T.
    Corresponds to variant rs59851484 [ dbSNP | Ensembl ].
    VAR_060985
    Natural varianti718 – 7181N → T.1 Publication
    Corresponds to variant rs3752239 [ dbSNP | Ensembl ].
    VAR_027585
    Natural varianti1349 – 13491R → Q.3 Publications
    Corresponds to variant rs3745842 [ dbSNP | Ensembl ].
    VAR_027586
    Natural varianti1527 – 15271G → A.4 Publications
    Corresponds to variant rs3752246 [ dbSNP | Ensembl ].
    VAR_027587
    Natural varianti1686 – 16861Q → R.1 Publication
    Corresponds to variant rs4147918 [ dbSNP | Ensembl ].
    VAR_027588
    Natural varianti2045 – 20451A → S.4 Publications
    Corresponds to variant rs4147934 [ dbSNP | Ensembl ].
    VAR_027589

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 138138Missing in isoform 2. 1 PublicationVSP_020701Add
    BLAST
    Alternative sequencei139 – 16628AQPQP…SLLRT → MVCLGTGQSAGPLVSVQNHC PPCGLSPQ in isoform 2. 1 PublicationVSP_020702Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF250238 mRNA. Translation: AAF85794.1.
    AF311102
    , AF311058, AF311059, AF311060, AF311061, AF311062, AF311063, AF311064, AF311065, AF311066, AF311067, AF311068, AF311057, AF311069, AF311070, AF311071, AF311072, AF311073, AF311074, AF311075, AF311076, AF311077, AF311078, AF311079, AF311080, AF311081, AF311082, AF311083, AF311084, AF311085, AF311086, AF311087, AF311088, AF311089, AF311090, AF311091, AF311092, AF311093, AF311094, AF311095, AF311096, AF311097, AF311098, AF311099, AF311100, AF311101 Genomic DNA. Translation: AAN04657.1.
    AB055390 mRNA. Translation: BAB62294.1.
    AF328787 mRNA. Translation: AAK00959.1.
    AC011558 Genomic DNA. No translation available.
    AF140342 mRNA. Translation: AAF06727.1.
    CCDSiCCDS12055.1. [Q8IZY2-1]
    RefSeqiNP_061985.2. NM_019112.3. [Q8IZY2-1]
    UniGeneiHs.134514.

    Genome annotation databases

    EnsembliENST00000263094; ENSP00000263094; ENSG00000064687. [Q8IZY2-1]
    ENST00000433129; ENSP00000414062; ENSG00000064687. [Q8IZY2-1]
    ENST00000435683; ENSP00000465322; ENSG00000064687. [Q8IZY2-2]
    GeneIDi10347.
    KEGGihsa:10347.
    UCSCiuc002lqw.4. human. [Q8IZY2-1]
    uc010dsb.1. human. [Q8IZY2-2]

    Polymorphism databases

    DMDMi161784300.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF250238 mRNA. Translation: AAF85794.1 .
    AF311102
    , AF311058 , AF311059 , AF311060 , AF311061 , AF311062 , AF311063 , AF311064 , AF311065 , AF311066 , AF311067 , AF311068 , AF311057 , AF311069 , AF311070 , AF311071 , AF311072 , AF311073 , AF311074 , AF311075 , AF311076 , AF311077 , AF311078 , AF311079 , AF311080 , AF311081 , AF311082 , AF311083 , AF311084 , AF311085 , AF311086 , AF311087 , AF311088 , AF311089 , AF311090 , AF311091 , AF311092 , AF311093 , AF311094 , AF311095 , AF311096 , AF311097 , AF311098 , AF311099 , AF311100 , AF311101 Genomic DNA. Translation: AAN04657.1 .
    AB055390 mRNA. Translation: BAB62294.1 .
    AF328787 mRNA. Translation: AAK00959.1 .
    AC011558 Genomic DNA. No translation available.
    AF140342 mRNA. Translation: AAF06727.1 .
    CCDSi CCDS12055.1. [Q8IZY2-1 ]
    RefSeqi NP_061985.2. NM_019112.3. [Q8IZY2-1 ]
    UniGenei Hs.134514.

    3D structure databases

    ProteinModelPortali Q8IZY2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115629. 1 interaction.
    IntActi Q8IZY2. 1 interaction.
    STRINGi 9606.ENSP00000263094.

    Protein family/group databases

    TCDBi 3.A.1.211.10. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei Q8IZY2.

    Polymorphism databases

    DMDMi 161784300.

    Proteomic databases

    MaxQBi Q8IZY2.
    PaxDbi Q8IZY2.
    PRIDEi Q8IZY2.

    Protocols and materials databases

    DNASUi 10347.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263094 ; ENSP00000263094 ; ENSG00000064687 . [Q8IZY2-1 ]
    ENST00000433129 ; ENSP00000414062 ; ENSG00000064687 . [Q8IZY2-1 ]
    ENST00000435683 ; ENSP00000465322 ; ENSG00000064687 . [Q8IZY2-2 ]
    GeneIDi 10347.
    KEGGi hsa:10347.
    UCSCi uc002lqw.4. human. [Q8IZY2-1 ]
    uc010dsb.1. human. [Q8IZY2-2 ]

    Organism-specific databases

    CTDi 10347.
    GeneCardsi GC19P001040.
    H-InvDB HIX0014569.
    HGNCi HGNC:37. ABCA7.
    HPAi HPA041564.
    MIMi 605414. gene.
    neXtProti NX_Q8IZY2.
    PharmGKBi PA24382.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1131.
    HOGENOMi HOG000231547.
    HOVERGENi HBG050436.
    InParanoidi Q8IZY2.
    KOi K05645.
    OMAi VRIKIRM.
    OrthoDBi EOG78D7J6.
    PhylomeDBi Q8IZY2.
    TreeFami TF105191.

    Enzyme and pathway databases

    Reactomei REACT_111158. ABCA transporters in lipid homeostasis.

    Miscellaneous databases

    ChiTaRSi ABCA7. human.
    GeneWikii ABCA7.
    GenomeRNAii 10347.
    NextBioi 39239.
    PROi Q8IZY2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IZY2.
    Bgeei Q8IZY2.
    CleanExi HS_ABCA7.
    Genevestigatori Q8IZY2.

    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. "Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7)."
      Kaminski W.E., Orso E., Diederich W., Klucken J., Drobnik W., Schmitz G.
      Biochem. Biophys. Res. Commun. 273:532-538(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLN-1349; ALA-1527 AND SER-2045, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INDUCTION.
      Tissue: Macrophage.
    2. "Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene."
      Kaminski W.E., Piehler A., Schmitz G.
      Biochem. Biophys. Res. Commun. 278:782-789(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-1527.
    3. "Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjogren's Syndrome."
      Tanaka A.R., Ikeda Y., Abe-Dohmae S., Arakawa R., Sadanami K., Kidera A., Nakagawa S., Nagase T., Aoki R., Kioka N., Amachi T., Yokoyama S., Ueda K.
      Biochem. Biophys. Res. Commun. 283:1019-1025(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS GLN-1349; ALA-1527 AND SER-2045.
      Tissue: Thymus.
    4. "Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter."
      Broccardo C., Osorio J., Luciani M.-F., Schriml L.M., Prades C., Shulenin S., Arnould I., Naudin L., Lafargue C., Rosier M., Jordan B., Mattei M.-G., Dean M., Denefle P., Chimini G.
      Cytogenet. Cell Genet. 92:264-270(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLY-188; ALA-1527 AND SER-2045, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
      Tissue: Spleen.
    5. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "Isolation of autoantigen cDNAs by lambda phage surface display."
      Niwa M., Maruyama M., Fujimoto T., Dohi K., Maruyama I.N.
      Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 195-352 (ISOFORMS 1/2).
      Tissue: Cervix carcinoma.
    7. "Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release."
      Ikeda Y., Abe-Dohmae S., Munehira Y., Aoki R., Kawamoto S., Furuya A., Shitara K., Amachi T., Kioka N., Matsuo M., Yokoyama S., Ueda K.
      Biochem. Biophys. Res. Commun. 311:313-318(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    8. "ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux."
      Wang N., Lan D., Gerbod-Giannone M., Linsel-Nitschke P., Jehle A.W., Chen W., Martinez L.O., Tall A.R.
      J. Biol. Chem. 278:42906-42912(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    9. "Adenosine triphosphate binding cassette (ABC) transporters are expressed and regulated during terminal keratinocyte differentiation: a potential role for ABCA7 in epidermal lipid reorganization."
      Kielar D., Kaminski W.E., Liebisch G., Piehler A., Wenzel J.J., Moehle C., Heimerl S., Langmann T., Friedrich S.O., Boettcher A., Barlage S., Drobnik W., Schmitz G.
      J. Invest. Dermatol. 121:465-474(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INDUCTION.
    10. "Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein."
      Abe-Dohmae S., Ikeda Y., Matsuo M., Hayashi M., Okuhira K., Ueda K., Yokoyama S.
      J. Biol. Chem. 279:604-611(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    11. "Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8."
      Iida A., Saito S., Sekine A., Mishima C., Kitamura Y., Kondo K., Harigae S., Osawa S., Nakamura Y.
      J. Hum. Genet. 47:285-310(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLY-188; ALA-319; ARG-395; HIS-463; THR-718; GLN-1349; ARG-1686 AND SER-2045.

    Entry informationi

    Entry nameiABCA7_HUMAN
    AccessioniPrimary (citable) accession number: Q8IZY2
    Secondary accession number(s): Q96S58
    , Q9BZC4, Q9NR73, Q9UKP8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 3, 2006
    Last sequence update: December 4, 2007
    Last modified: October 1, 2014
    This is version 99 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 19
      Human chromosome 19: 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