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ABCA9 Gene

protein-coding   GIFtS: 50

GC17M064482
ATP-binding cassette, sub-family A (ABC1), member 9
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
DKFZp686F2450 2
EST640918 1, 2
MGC75415 2
Descriptions
ATP-binding cassette A9 2
ATP-binding cassette, sub-family A (ABC1), member 9 2
ATP-binding cassette, sub-family A, member 9 2
External Ids
HGNC: 391
Entrez Gene: 103502
UniProtKB: Q8IUA73
Ensembl: ENSG000001542587
Search outside databases for aliases for ABCA9 gene

Previous GC identifers: GC17M066770 GC17M069931 GC17M067435 GC17M067568

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ABCA9:
This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded
protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins
transport various molecules across extra- and intracellular membranes. ABC genes are divided into
seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a
member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome
17q24. Transcriptional expression of this gene is induced during monocyte differentiation into
macrophages and is suppressed by cholesterol import. [provided by RefSeq]

UniProtKB/Swiss-Prot: ABCA9_HUMAN, Q8IUA7
Function: May play a role in monocyte differentiation and lipid homeostasis

Gene Wiki entry for ABCA9

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ABCA9 gene  

Entrez Gene cytogenetic band: 17q24.2   Ensembl cytogenetic band:  17q24.2   HGNC cytogenetic band: 17q24

ABCA9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M064482:     (about GC identifiers)

Start:
64,482,368 bp from pter
End:
64,568,731 bp from pter
Size:
86,364 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000017.9  NT_010641.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: ABCA9_HUMAN, Q8IUA7 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family A member 9  
Size: 1624 amino acids; 184362 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Developmental stage: Expressed in fetal tissues with higher expression in fetal heart and kidney
Secondary accessions: Q6P655 Q8N2S4 Q8WWZ5 Q96MD8
Alternative splicing: 5 isoforms:  Q8IUA7-1   Q8IUA7-2   Q8IUA7-3   Q8IUA7-4   Q8IUA7-5   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_525022.2  

    ENSEMBL proteins: 
    ENSP00000342216 ENSP00000359767 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (ABCA9)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for ABCA9: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (ABCA9), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibody for ABCA9

    Assays for ABCA9: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR003593 ATPase_AAA+_core
     IPR003439 ABC_transporter-like
     IPR017871 ABC_transporter_CS


       GeneDecks  ABCA9 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q8IUA7

    ProtoNet protein and cluster: Q8IUA7

    UniProtKB/Swiss-Prot: ABCA9_HUMAN, Q8IUA7
    Similarity: Belongs to the ABC transporter family. ABCA subfamily
    Similarity: Contains 2 ABC transporter domains

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ABCA9)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ABCA9)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_172386

                  Applied Biosystems Silencer® siRNAs for ABCA9

                  Sigma-Aldrich siRNA and siRNA Panels for ABCA9  
                         Sigma-Aldrich shRNA for ABCA9  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_080283
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_080283
                                     untagged cDNA clones in CMV expression vector (see all 2): AK095538 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_080283

    UniProtKB/Swiss-Prot: ABCA9_HUMAN, Q8IUA7
    Function: May play a role in monocyte differentiation and lipid homeostasis
    Induction: Up-regulated during monocyte differentiation into macrophages. Down-regulated by
    cholesterol loading of macrophages

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0005524 ATP binding IEA--
    GO:0016887 ATPase activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Kegg Pathway  (Kegg details for ABCA9):
     hsa02010 ABC transporters

       GeneDecks  ABCA9 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  ABCA9 


    2 Interacting proteins for ABCA9 (ENSP000003422163) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCA3ENSP000003718183STRING (score=.916)
    ABCA5ENSP000003197663STRING (score=.726)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810 transport IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for ABCA9

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ABCA9)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ABCA9)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_172386

                  Sigma-Aldrich siRNA and siRNA Panels for ABCA9  
                         Sigma-Aldrich shRNA for ABCA9  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_080283  

    REFSEQ mRNAs for ABCA9 gene: 

    NM_080283.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_080283  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_080283
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_080283
                                     untagged cDNA clones in CMV expression vector (see all 2): AK095538 

    Additional cDNA sequence: 

    AF423307.1 AK057068.1 AK074491.1 AK122687.1 AL833712.1 AY028899.1 BC062472.1 CR627382.1 

    9 DOTS entries:

    DT.75117570  DT.410492  DT.100027018  DT.410491  DT.75153861  DT.100704618  DT.100736998  DT.120986999 
    DT.75122701 

    24/57 AceView cDNA sequences (see all 57 ):

    AL698804 F00423 NM_172386 BC062472 NM_080283 BX280456 BX281489 AF423307 
    AI627862 BM992857 AI372047 BX496612 T41066 AY028899 W84726 BF513667 
    AL833712 AW130042 BU072174 AW296945 AI446543 AK057068 AK122687 BU076154 

    highest scoring ESTs for ABCA9:

    AI284184 AK057068 AY028899 AA027211 AA027212 AA148691 AA148692 AA248948 AF423307 AI822115 

    Unigene Cluster for ABCA9:

    ATP-binding cassette, sub-family A (ABC1), member 9
    Hs.131686  [show with all ESTs]
    Unigene Representative Sequence: NM_080283


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000340001  ENST00000370732  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ABCA9 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ABCA9

    1 / 2 / 3

    10 probe-sets matching ABCA9 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    55481_i_at2, 3 U95-B 1 1.00 1.00 0.97 1.25 R54660 0.40 1.00 0.76 1

    62225_at2, 3 U95-C 2 1.00 0.97 0.65 0.54 AI284184 0.80 1.00 0.91 1
    55484_r_at2, 3 U95-B 1 0.94 1.00 0.99 1.06 R54660 0.40 1.00 0.76 1
    44363_at2, 3 U95-B 1 0.69 1.00 0.26 1.20 AI822115 0.60 1.00 0.82 1

    239185_at2, 3 U133-B 1 1.00 1.00 -- -- AI284184 0.80 1.00 0.91 1

    242541_at2, 3 U133-B 1 1.00 1.00 -- -- AV692159 0.40 1.00 0.76 1

    235335_at2, 3 U133-B 1 0.36 1.00 -- -- AI446543 0.40 1.00 0.76 1

    239185_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    242541_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    235335_at2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    GeneDecks  ABCA9 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.131686

    UniProtKB/Swiss-Prot: ABCA9_HUMAN, Q8IUA7
    Tissue specificity: Widely expressed with higher expression in heart

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for ABCA9 gene from 5 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ABCA91   -- ATP-binding cassette, sub-family A (ABC1), member 9 87.44(n)
    85.59(a)
    611016  XM_848625.1  XP_853718.1 
    chimpanzee
    (Pan troglodytes)
    ABCA91   -- ATP-binding cassette, sub-family A (ABC1), member 9 99.27(n)
    99.12(a)
    742781  XM_001146190.1  XP_001146190.1 
    cow
    (Bos taurus)
    ABCA91   -- ATP-binding cassette, sub-family A (ABC1), member 9 81.54(n)
    77.26(a)
    504278  XM_865176.2  XP_870269.2 
    rat
    (Rattus norvegicus)
    Abca91   -- ATP-binding cassette, sub-family A (ABC1), member 9 78.73(n)
    74.72(a)
    287788  XM_221101.4  XP_221101.4 
    mouse
    (Mus musculus)
    Abca91, 5 115
    ATP-binding cassette, sub-family A (ABC1), member 91, 5 81.57(n)1
    78.73(a)1
    2172621  NM_147220.11  NP_671753.11 
     AA1708685  AA1728355  (see all 16)
    About this table        Species with no ortholog for ABCA9

    ENSEMBL Gene Tree for ABCA9
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ABCA9 gene
    ABCA102  ABCA62  ABCA52  ABCA82  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/421 NCBI SNPs in ABCA9 are shown (see all 421 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 155)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs118719441,2
    A,C,F,H64568883(+) GATGGT/CTGGCT 1 -- ng317Minor allele frequency- C:0.38NA EU EA WA 538
    rs72175431,2
    A,C,F,H64570548(+) ccgacG/ATATTT 1 -- ng317Minor allele frequency- A:0.36EU EA WA NA 554
    rs110778591,2
    A,C,F,H64483474(+) CCCTAT/CGATCG 1 -- ut31 ese311Minor allele frequency- C:0.37NA EU EA WA 976
    rs18604471,2
    C,F,H,O64543052(-) TACACA/GTCTTC 1 R/H mis1 ese311Minor allele frequency- G:0.14EU EA WA NA 980
    rs110778601,2
    A,C,F,H64483493(+) GACATC/TGCCTG 1 -- ut31 ese38Minor allele frequency- T:0.35EU EA WA 836
    rs80775041,2
    A,C,F,H64481964(+) TCTTAT/CAAAAT 1 -- ng517Minor allele frequency- C:0.16EU EA WA NA 560
    rs114531,2
    A,C,F,H64482540(-) TTATAT/CACAAG 1 -- ut318Minor allele frequency- C:0.36MN EU EA WA NA 952
    rs21912131,2
    A,C,F,H64482213(-) TTCGTA/CTGAGA 1 -- ng514Minor allele frequency- C:0.47EU EA WA 420
    rs110778581,2
    A,C,F,H64483170(+) CCAGTG/CAATTA 1 -- ut31 ese311Minor allele frequency- C:0.37EU EA WA NA 978
    rs99162541,2
    C,F,H64494042(+) TCCACC/TGCTCC 1 G/S mis1 ese38Minor allele frequency- T:0.05EU EA WA 826
    About this table

    HapMap Linkage Disequilibrium images for ABCA9 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 612507

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    9 PubMed articles for ABCA9 gene:
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 10350 HGNC: 39 AceView: ABCA9 Ensembl:ENSG00000154258 euGenes: HUgn10350
    ECgene: ABCA9 H-InvDB: ABCA9
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for ABCA9:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for ABCA9 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for ABCA9 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant & Natural Proteins  

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     Antibodies for ABCA9

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