Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9BZC7

- ABCA2_HUMAN

UniProt

Q9BZC7 - ABCA2_HUMAN

Protein

ATP-binding cassette sub-family A member 2

Gene

ABCA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 3 (23 Sep 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi1024 – 10318ATP 1PROSITE-ProRule annotation
    Nucleotide bindingi2087 – 20948ATP 2PROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATPase activity Source: UniProtKB
    2. ATPase activity, coupled to transmembrane movement of substances Source: UniProtKB
    3. ATP binding Source: UniProtKB

    GO - Biological processi

    1. ATP catabolic process Source: GOC
    2. cholesterol homeostasis Source: UniProtKB
    3. lipid metabolic process Source: UniProtKB
    4. regulation of intracellular cholesterol transport Source: UniProtKB
    5. regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    6. response to drug Source: UniProtKB
    7. response to steroid hormone Source: UniProtKB
    8. transmembrane transport Source: GOC
    9. transport Source: UniProtKB

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_111158. ABCA transporters in lipid homeostasis.

    Protein family/group databases

    TCDBi3.A.1.211.3. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-binding cassette sub-family A member 2
    Alternative name(s):
    ATP-binding cassette transporter 2
    Short name:
    ATP-binding cassette 2
    Gene namesi
    Name:ABCA2
    Synonyms:ABC2, KIAA1062
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:32. ABCA2.

    Subcellular locationi

    Endosome membrane 1 Publication; Multi-pass membrane protein 1 Publication. Lysosome membrane 1 Publication; Multi-pass membrane protein 1 Publication
    Note: Forms discrete, punctate intracellular vesicles.

    GO - Cellular componenti

    1. ATP-binding cassette (ABC) transporter complex Source: UniProtKB
    2. cytoplasmic membrane-bounded vesicle Source: UniProtKB
    3. endosome Source: UniProtKB
    4. endosome membrane Source: UniProtKB-SubCell
    5. integral component of membrane Source: UniProtKB
    6. lysosomal membrane Source: UniProtKB-SubCell
    7. lysosome Source: UniProtKB
    8. membrane Source: UniProtKB
    9. microtubule organizing center Source: UniProtKB

    Keywords - Cellular componenti

    Endosome, Lysosome, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24377.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 24352435ATP-binding cassette sub-family A member 2PRO_0000093290Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi14 – 141N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi89 – 891N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi168 – 1681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi173 – 1731N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi305 – 3051N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi368 – 3681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi379 – 3791N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi420 – 4201N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi432 – 4321N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi476 – 4761N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi484 – 4841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi494 – 4941N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi530 – 5301N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi544 – 5441N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi590 – 5901N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi600 – 6001N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi628 – 6281N-linked (GlcNAc...)Sequence Analysis
    Modified residuei1327 – 13271Phosphoserine1 Publication
    Modified residuei1331 – 13311Phosphoserine1 Publication
    Glycosylationi1408 – 14081N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1496 – 14961N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1549 – 15491N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1557 – 15571N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1612 – 16121N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1677 – 16771N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1775 – 17751N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2054 – 20541N-linked (GlcNAc...)Sequence Analysis
    Modified residuei2412 – 24121Phosphothreonine1 Publication

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9BZC7.
    PaxDbiQ9BZC7.
    PRIDEiQ9BZC7.

    PTM databases

    PhosphoSiteiQ9BZC7.

    Expressioni

    Tissue specificityi

    Highly expressed in the brain, whereas lower levels of expression is observed in kidney and liver.1 Publication

    Gene expression databases

    ArrayExpressiQ9BZC7.
    BgeeiQ9BZC7.
    CleanExiHS_ABCA2.
    GenevestigatoriQ9BZC7.

    Organism-specific databases

    HPAiHPA042886.

    Interactioni

    Protein-protein interaction databases

    BioGridi106538. 3 interactions.
    IntActiQ9BZC7. 3 interactions.
    STRINGi9606.ENSP00000344155.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BZC7.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei22 – 4221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei54 – 7421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei699 – 71921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei750 – 77021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei782 – 80221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei813 – 83321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei857 – 87721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei893 – 91321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1456 – 147621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1792 – 181221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1841 – 186121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1872 – 189221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1905 – 192521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1991 – 201121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini990 – 1221232ABC transporter 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini2050 – 2285236ABC 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.
    KOiK05642.
    OMAiGYPAFIF.
    OrthoDBiEOG78D7J6.
    PhylomeDBiQ9BZC7.
    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 (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BZC7-1) [UniParc]FASTAAdd to Basket

    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

    MGFLHQLQLL LWKNVTLKRR SPWVLAFEIF IPLVLFFILL GLRQKKPTIS     50
    VKEAFYTAAP LTSAGILPVM QSLCPDGQRD EFGFLQYANS TVTQLLERLD 100
    RVVEEGNLFD PARPSLGSEL EALRQHLEAL SAGPGTSGSH LDRSTVSSFS 150
    LDSVARNPQE LWRFLTQNLS LPNSTAQALL AARVDPPEVY HLLFGPSSAL 200
    DSQSGLHKGQ EPWSRLGGNP LFRMEELLLA PALLEQLTCT PGSGELGRIL 250
    TVPESQKGAL QGYRDAVCSG QAAARARRFS GLSAELRNQL DVAKVSQQLG 300
    LDAPNGSDSS PQAPPPRRLQ ALLGDLLDAQ KVLQDVDVLS ALALLLPQGA 350
    CTGRTPGPPA SGAGGAANGT GAGAVMGPNA TAEEGAPSAA ALATPDTLQG 400
    QCSAFVQLWA GLQPILCGNN RTIEPEALRR GNMSSLGFTS KEQRNLGLLV 450
    HLMTSNPKIL YAPAGSEVDR VILKANETFA FVGNVTHYAQ VWLNISAEIR 500
    SFLEQGRLQQ HLRWLQQYVA ELRLHPEALN LSLDELPPAL RQDNFSLPSG 550
    MALLQQLDTI DNAACGWIQF MSKVSVDIFK GFHDEESIVN YTLNQAYQDN 600
    VTVFASVIFQ TRKDGSLPPH VHYKIRQNSS FTEKTNEIRR AYWRPGPNTG 650
    GRFYFLYGFV WIQDMMERAI IDTFVGHDVV EPGSYVQMFP YPCYTRDDFL 700
    FVIEHMMPLC MVISWVYSVA MTIQHIVAEK EHRLKEVMKT MGLNNAVHWV 750
    AWFITGFVQL SISVTALTAI LKYGQVLMHS HVVIIWLFLA VYAVATIMFC 800
    FLVSVLYSKA KLASACGGII YFLSYVPYMY VAIREEVAHD KITAFEKCIA 850
    SLMSTTAFGL GSKYFALYEV AGVGIQWHTF SQSPVEGDDF NLLLAVTMLM 900
    VDAVVYGILT WYIEAVHPGM YGLPRPWYFP LQKSYWLGSG RTEAWEWSWP 950
    WARTPRLSVM EEDQACAMES RRFEETRGME EEPTHLPLVV CVDKLTKVYK 1000
    DDKKLALNKL SLNLYENQVV SFLGHNGAGK TTTMSILTGL FPPTSGSATI 1050
    YGHDIRTEMD EIRKNLGMCP QHNVLFDRLT VEEHLWFYSR LKSMAQEEIR 1100
    REMDKMIEDL ELSNKRHSLV QTLSGGMKRK LSVAIAFVGG SRAIILDEPT 1150
    AGVDPYARRA IWDLILKYKP GRTILLSTHH MDEADLLGDR IAIISHGKLK 1200
    CCGSPLFLKG TYGDGYRLTL VKRPAEPGGP QEPGLASSPP GRAPLSSCSE 1250
    LQVSQFIRKH VASCLLVSDT STELSYILPS EAAKKGAFER LFQHLERSLD 1300
    ALHLSSFGLM DTTLEEVFLK VSEEDQSLEN SEADVKESRK DVLPGAEGPA 1350
    SGEGHAGNLA RCSELTQSQA SLQSASSVGS ARGDEGAGYT DVYGDYRPLF 1400
    DNPQDPDNVS LQEVEAEALS RVGQGSRKLD GGWLKVRQFH GLLVKRFHCA 1450
    RRNSKALFSQ ILLPAFFVCV AMTVALSVPE IGDLPPLVLS PSQYHNYTQP 1500
    RGNFIPYANE ERREYRLRLS PDASPQQLVS TFRLPSGVGA TCVLKSPANG 1550
    SLGPTLNLSS GESRLLAARF FDSMCLESFT QGLPLSNFVP PPPSPAPSDS 1600
    PASPDEDLQA WNVSLPPTAG PEMWTSAPSL PRLVREPVRC TCSAQGTGFS 1650
    CPSSVGGHPP QMRVVTGDIL TDITGHNVSE YLLFTSDRFR LHRYGAITFG 1700
    NVLKSIPASF GTRAPPMVRK IAVRRAAQVF YNNKGYHSMP TYLNSLNNAI 1750
    LRANLPKSKG NPAAYGITVT NHPMNKTSAS LSLDYLLQGT DVVIAIFIIV 1800
    AMSFVPASFV VFLVAEKSTK AKHLQFVSGC NPIIYWLANY VWDMLNYLVP 1850
    ATCCVIILFV FDLPAYTSPT NFPAVLSLFL LYGWSITPIM YPASFWFEVP 1900
    SSAYVFLIVI NLFIGITATV ATFLLQLFEH DKDLKVVNSY LKSCFLIFPN 1950
    YNLGHGLMEM AYNEYINEYY AKIGQFDKMK SPFEWDIVTR GLVAMAVEGV 2000
    VGFLLTIMCQ YNFLRRPQRM PVSTKPVEDD VDVASERQRV LRGDADNDMV 2050
    KIENLTKVYK SRKIGRILAV DRLCLGVRPG ECFGLLGVNG AGKTSTFKML 2100
    TGDESTTGGE AFVNGHSVLK ELLQVQQSLG YCPQCDALFD ELTAREHLQL 2150
    YTRLRGISWK DEARVVKWAL EKLELTKYAD KPAGTYSGGN KRKLSTAIAL 2200
    IGYPAFIFLD EPTTGMDPKA RRFLWNLILD LIKTGRSVVL TSHSMEECEA 2250
    LCTRLAIMVN GRLRCLGSIQ HLKNRFGDGY MITVRTKSSQ SVKDVVRFFN 2300
    RNFPEAMLKE RHHTKVQYQL KSEHISLAQV FSKMEQVSGV LGIEDYSVSQ 2350
    TTLDNVFVNF AKKQSDNLEQ QETEPPSALQ SPLGCLLSLL RPRSAPTELR 2400
    ALVADEPEDL DTEDEGLISF EEERAQLSFN TDTLC 2435
    Length:2,435
    Mass (Da):269,873
    Last modified:September 23, 2008 - v3
    Checksum:i0C4ABE9087BEC5C4
    GO
    Isoform 2 (identifier: Q9BZC7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2059-2090: YKSRKIGRILAVDRLCLGVRPGECFGLLGVNG → GSGHVGWGLGGVGQGQGGGAPAVEVEPGWAGP
         2091-2435: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:2,090
    Mass (Da):230,564
    Checksum:i0E8343980AF61548
    GO
    Isoform 3 (identifier: Q9BZC7-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         53-54: EA → EVS

    Show »
    Length:2,436
    Mass (Da):269,988
    Checksum:iAF887122E85CA013
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti2079 – 20791P → L in AAK14335. (PubMed:11178988)Curated
    Isoform 3 (identifier: Q9BZC7-3)
    Sequence conflicti55 – 551S → P in AAK14334. (PubMed:11178988)Curated
    Sequence conflicti55 – 551S → P in AAK14335. (PubMed:11178988)Curated
    Sequence conflicti55 – 551S → P in AAG09372. (PubMed:11309290)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti583 – 5831H → P.2 Publications
    Corresponds to variant rs908828 [ dbSNP | Ensembl ].
    VAR_044526
    Natural varianti674 – 6741F → V.
    Corresponds to variant rs2090625 [ dbSNP | Ensembl ].
    VAR_044527

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei53 – 542EA → EVS in isoform 3. 2 PublicationsVSP_040937
    Alternative sequencei2059 – 209032YKSRK…LGVNG → GSGHVGWGLGGVGQGQGGGA PAVEVEPGWAGP in isoform 2. 1 PublicationVSP_035283Add
    BLAST
    Alternative sequencei2091 – 2435345Missing in isoform 2. 1 PublicationVSP_035284Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF327657 mRNA. Translation: AAK14334.1.
    AF327705
    , AF327658, AF327659, AF327660, AF327661, AF327662, AF327663, AF327664, AF327665, AF327666, AF327667, AF327668, AF327669, AF327670, AF327671, AF327672, AF327673, AF327674, AF327675, AF327676, AF327677, AF327678, AF327679, AF327680, AF327681, AF327682, AF327683, AF327684, AF327685, AF327686, AF327687, AF327688, AF327689, AF327690, AF327691, AF327692, AF327693, AF327694, AF327695, AF327696, AF327697, AF327698, AF327699, AF327700, AF327701, AF327702, AF327703, AF327704 Genomic DNA. Translation: AAK14335.1.
    AF178941 mRNA. Translation: AAG09372.1.
    AL807752 Genomic DNA. Translation: CAI12768.1.
    AB028985 mRNA. Translation: BAA83014.2.
    AB177854 mRNA. Translation: BAD66832.1.
    CCDSiCCDS43909.1. [Q9BZC7-3]
    PIRiA59189.
    RefSeqiNP_001597.2. NM_001606.4.
    NP_997698.1. NM_212533.2.
    UniGeneiHs.421202.

    Genome annotation databases

    EnsembliENST00000341511; ENSP00000344155; ENSG00000107331. [Q9BZC7-3]
    ENST00000371605; ENSP00000360666; ENSG00000107331. [Q9BZC7-1]
    GeneIDi20.
    KEGGihsa:20.
    UCSCiuc004ckl.1. human. [Q9BZC7-1]
    uc004ckm.1. human. [Q9BZC7-3]

    Polymorphism databases

    DMDMi206729923.

    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
    AF327657 mRNA. Translation: AAK14334.1 .
    AF327705
    , AF327658 , AF327659 , AF327660 , AF327661 , AF327662 , AF327663 , AF327664 , AF327665 , AF327666 , AF327667 , AF327668 , AF327669 , AF327670 , AF327671 , AF327672 , AF327673 , AF327674 , AF327675 , AF327676 , AF327677 , AF327678 , AF327679 , AF327680 , AF327681 , AF327682 , AF327683 , AF327684 , AF327685 , AF327686 , AF327687 , AF327688 , AF327689 , AF327690 , AF327691 , AF327692 , AF327693 , AF327694 , AF327695 , AF327696 , AF327697 , AF327698 , AF327699 , AF327700 , AF327701 , AF327702 , AF327703 , AF327704 Genomic DNA. Translation: AAK14335.1 .
    AF178941 mRNA. Translation: AAG09372.1 .
    AL807752 Genomic DNA. Translation: CAI12768.1 .
    AB028985 mRNA. Translation: BAA83014.2 .
    AB177854 mRNA. Translation: BAD66832.1 .
    CCDSi CCDS43909.1. [Q9BZC7-3 ]
    PIRi A59189.
    RefSeqi NP_001597.2. NM_001606.4.
    NP_997698.1. NM_212533.2.
    UniGenei Hs.421202.

    3D structure databases

    ProteinModelPortali Q9BZC7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106538. 3 interactions.
    IntActi Q9BZC7. 3 interactions.
    STRINGi 9606.ENSP00000344155.

    Protein family/group databases

    TCDBi 3.A.1.211.3. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei Q9BZC7.

    Polymorphism databases

    DMDMi 206729923.

    Proteomic databases

    MaxQBi Q9BZC7.
    PaxDbi Q9BZC7.
    PRIDEi Q9BZC7.

    Protocols and materials databases

    DNASUi 20.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000341511 ; ENSP00000344155 ; ENSG00000107331 . [Q9BZC7-3 ]
    ENST00000371605 ; ENSP00000360666 ; ENSG00000107331 . [Q9BZC7-1 ]
    GeneIDi 20.
    KEGGi hsa:20.
    UCSCi uc004ckl.1. human. [Q9BZC7-1 ]
    uc004ckm.1. human. [Q9BZC7-3 ]

    Organism-specific databases

    CTDi 20.
    GeneCardsi GC09M139901.
    HGNCi HGNC:32. ABCA2.
    HPAi HPA042886.
    MIMi 600047. gene.
    neXtProti NX_Q9BZC7.
    PharmGKBi PA24377.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1131.
    HOGENOMi HOG000231547.
    HOVERGENi HBG050436.
    KOi K05642.
    OMAi GYPAFIF.
    OrthoDBi EOG78D7J6.
    PhylomeDBi Q9BZC7.
    TreeFami TF105191.

    Enzyme and pathway databases

    Reactomei REACT_111158. ABCA transporters in lipid homeostasis.

    Miscellaneous databases

    ChiTaRSi ABCA2. human.
    GeneWikii ABCA2.
    GenomeRNAii 20.
    NextBioi 55.
    PROi Q9BZC7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BZC7.
    Bgeei Q9BZC7.
    CleanExi HS_ABCA2.
    Genevestigatori Q9BZC7.

    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. "Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages."
      Kaminski W.E., Piehler A., Pullmann K., Porsch-Oezcueruemez M., Duong C., Bared G.M., Buchler C., Schmitz G.
      Biochem. Biophys. Res. Commun. 281:249-258(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 3), VARIANT PRO-583.
    2. "Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2."
      Vulevic B., Chen Z., Boyd J.T., Davis W. Jr., Walsh E.S., Belinsky M.G., Tew K.D.
      Cancer Res. 61:3339-3347(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT PRO-583.
      Tissue: Brain.
    3. "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].
    4. "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 651-2435 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 665-2435 (ISOFORM 1).
      Tissue: Brain.
    5. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1327 AND SER-1331, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-2412, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiABCA2_HUMAN
    AccessioniPrimary (citable) accession number: Q9BZC7
    Secondary accession number(s): A6NED5
    , Q5SPY5, Q5W9G5, Q76MW7, Q9HC28
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2001
    Last sequence update: September 23, 2008
    Last modified: October 1, 2014
    This is version 118 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