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ABCA1 Gene

protein-coding   GIFtS: 66

GC09M106583
ATP-binding cassette, sub-family A (ABC1), member 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: ABC1, HDLDT1)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
ABC-1 2, 3
ABC1 2, 3, 5
CERP 2, 3
FLJ14958 2
HDLDT1 2, 5
MGC164864 2
MGC165011 2
OTTHUMP00000021833 2
TGD 1, 2, 5
membrane-bound 2
Descriptions
ATP binding cassette transporter 1 2
ATP-binding cassette 1 2, 3
ATP-binding cassette transporter 1 3
ATP-binding cassette transporter A1 2
ATP-binding cassette, sub-family A (ABC1), member 1 2
ATP-binding cassette, sub-family A member 1 2
ATP-binding cassette, sub-family A, member 1 1
Cholesterol efflux regulatory protein 2, 3
External Ids
HGNC: 291
Entrez Gene: 192
UniProtKB: O954773
Ensembl: ENSG000001650297
Search outside databases for aliases for ABCA1 gene

Previous GC identifers: GC09M098343 GC09M099286 GC09M101000 GC09M102923 GC09M104622

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

EntrezGene summary for ABCA1:
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding
cassette (ABC) transporters. 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, White). This protein is a member of the ABC1 subfamily. Members of the ABC1
subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.
With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the
cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's
disease and familial high-density lipoprotein deficiency. [provided by RefSeq]

UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477
Function: cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing
intracellular cholesterol transport

Gene Wiki entry for ABCA1

(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 ABCA1 gene  

Entrez Gene cytogenetic band: 9q31.1   Ensembl cytogenetic band:  9q31.1   HGNC cytogenetic band: 9q31

ABCA1 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 9         GeneLoc Exon Structure

GeneLoc location for GC09M106583:     (about GC identifiers)

Start:
106,583,104 bp from pter
End:
106,730,257 bp from pter
Size:
147,154 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000009.10  NT_008470.18  
(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)
About This Section

UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family A member 1  
Size: 2261 amino acids; 254286 Da
Subunit: Interacts with MEGF10
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q5VX33 Q96S56 Q96T85 Q9NQV4 Q9UN06 Q9UN07 Q9UN08 Q9UN09

Post-translational modifications:

  • Phosphorylation on Ser-2054 regulates phospholipid efflux1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_005493.2  

    ENSEMBL proteins: 
    ENSP00000363865 ENSP00000363868 ENSP00000341712 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich CompoZr ZFN for ABCA1  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (ABCA1)
    Human Recombinant Proteins from Abnova (ABCA1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624 membrane fraction IDA10525055
    GO:0005887 integral to plasma membrane IDA10525055
    GO:0016020 membrane IEA--
    GO:0045121 membrane raft IDA15469992
    GO:0045335 phagocytic vesicle IDA15469992
    About this table

    Antibodies for ABCA1: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of ABCA1
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (ABCA1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (ABCA1)
    Novus Biologicals Antibodies for ABCA1

    Assays for ABCA1: 
    Browse Invitrogen for biochemical assays
    Millipore Kits and Assays for the Analysis of ABCA1
    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  ABCA1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O95477

    ProtoNet protein and cluster: O95477

    UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477
    Domain: Multifunctional polypeptide with two homologous halves, each containing an hydrophobic
    membrane-anchoring domain and an ATP binding cassette (ABC) domain
    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 (ABCA1)
    Millipore RNAi Products for the Analysis of ABCA1 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (ABCA1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005502

                  Applied Biosystems Silencer® siRNAs for ABCA1

                  Sigma-Aldrich siRNA and siRNA Panels for ABCA1  
                         Sigma-Aldrich shRNA for ABCA1  
                         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_005502
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_005502
                                     untagged cDNA clones in CMV expression vector (see all 2): BC034824 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_005502

    UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477
    Function: cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing
    intracellular cholesterol transport
    Induction: By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X
    receptor (LXR) -independent mechanism. Repressed by ZNF202

    Genatlas biochemistry entry for ABCA1:
    ATP binding cassette superfamily,subfamily A,member 1,mouse ABC1 homolog,widely
    expressed,cholesterol carrying out of the cell for uptake into HDL particles

    15/16 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Abca1) (see all 16 ):

    cellulardigestive/alimentaryembryogenesisendocrine/exocrine gland
    growth/sizehematopoietic systemhomeostasis/metabolismimmune systemlethality-postnatal
    lethality-prenatal/perinatalliver/biliary systemmusclerenal/urinary systemreproductive system

    5/11 Gene Ontology (GO) molecular function terms (links to tree view) (see all 11 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0005524 ATP binding IEA--
    GO:0005543 phospholipid binding IC16702602
    GO:0005548 phospholipid transporter activity IDA16702602
    GO:0008509 anion transmembrane transporter activity ISS--
    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 Invitrogen iPath™ Online BioAtlas - Pathway for ABCA1 (Maps provided by GeneGo):
     Role of ZNF202 in regulation of expression of genes involved in Atherosclerosis

       GeneDecks  ABCA1 for the pathways selected above  
    About GeneDecksing

    2 Millipore Pathways for ABCA1
     Selected targets of CREB1
     Selected targets of HNF1

       GeneDecks  ABCA1 for the pathways selected above  
    About GeneDecksing

    3 Sigma-Aldrich "Your Favorite Gene" Pathways for  ABCA1  (Your Favorite Gene powered by Ingenuity) 
     LPS/IL-1 Mediated Inhibition of RXR Function
     LXR/RXR Activation
     PPAR&alpha

       GeneDecks  ABCA1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for ABCA1):
     hsa02010 ABC transporters

       GeneDecks  ABCA1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  ABCA1 


    5/71 Interacting proteins for ABCA1 (ENSP000003638683 O954771, 2) via UniProtKB, MINT, and/or STRING (see all 71 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGEF11O150851STRING (score=.846) EBI-784112, EBI-311099
    ARHGEF12Q9NZN51STRING (score=.846) EBI-784112, EBI-821440
    DLG2Q157001STRING (score=.846) EBI-784112, EBI-80426
    DLG3Q927961STRING (score=.846) EBI-784112, EBI-80440
    LIN7BQ9HAP61STRING (score=.846) EBI-784112, EBI-821335
    About this table

    5/18 Gene Ontology (GO) biological process terms (links to tree view) (see all 18 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810 transport IEA--
    GO:0007040 lysosome organization IDA15163665
    GO:0007186 G-protein coupled receptor protein signaling pathway IMP16443932
    GO:0008202 steroid metabolic process IEA--
    GO:0008203 cholesterol metabolic process 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
    Sigma-Aldrich Small Molecules for ABCA1:
    Agonist

    Browse Tocris compounds for ABCA1
    10/48 Novoseek chemical compound relationships for ABCA1 gene (see all 48 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesterol 88.41 1037 17409096 (8), 18427282 (7), 12700343 (7), 18711208 (7) (see all 99)
    22r-hydroxycholesterol 86.08 21 12401893 (2), 16142410 (1), 17767055 (1), 18427282 (1) (see all 14)
    24(s),25-epoxycholesterol 84.44 6 16901265 (4), 15514210 (1), 17186944 (1)
    sterol 78.19 31 11742879 (6), 16254198 (3), 15358760 (3), 16788211 (2) (see all 16)
    lipid 74.26 220 18776170 (6), 19202195 (5), 11940086 (3), 10725792 (3) (see all 99)
    abc2 73.17 3 11270397 (2), 9027511 (1)
    gw 3965 72.96 1 15145986 (1)
    phospholipid 71.88 89 12738681 (4), 16855366 (4), 14703508 (3), 11309399 (3) (see all 60)
    cholesterol ester 70.60 9 17652712 (1), 12759900 (1), 18270459 (1), 11950702 (1) (see all 9)
    27-hydroxycholesterol 70.14 3 17088262 (2), 16099444 (1)
    About this table


    (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 (ABCA1)
    Millipore RNAi Products for the Analysis of ABCA1 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (ABCA1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005502

                  Sigma-Aldrich siRNA and siRNA Panels for ABCA1  
                         Sigma-Aldrich shRNA for ABCA1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_005502  

    REFSEQ mRNAs for ABCA1 gene: 

    NM_005502.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_005502  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_005502
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_005502
                                     untagged cDNA clones in CMV expression vector (see all 2): BC034824 

    Additional cDNA sequence: 

    AB037924.1 AB055982.1 AB208839.1 AB445477.1 AF165281.1 AF258627.1 AF285167.1 AJ012376.1 
    AK024328.1 AK027864.1 BC034824.1 BC141816.1 BC142693.1 BC146856.1 

    9 DOTS entries:

    DT.414915  DT.75116842  DT.92430391  DT.92054245  DT.97780029  DT.40233262  DT.95163274  DT.40194073 
    DT.91746745 

    24/134 AceView cDNA sequences (see all 134 ):

    BM728651 AB055982 Z40310 BQ026286 AA328733 NM_005502 BM769397 AI399824 
    AI802228 BE222116 BM768930 BE857175 BF988872 AA521292 Z44377 BF438337 
    BM823180 BC034824 BM153383 BU753834 C01846 AA748860 AU121731 BF891375 

    highest scoring ESTs for ABCA1:

    AF258627 AF285167 AJ012376 AK024328 AL048433 Z44377 AA292158 AA357618 AA493786 AA521292 

    Unigene Cluster for ABCA1:

    ATP-binding cassette, sub-family A (ABC1), member 1
    Hs.719214  [show with all ESTs]
    Unigene Representative Sequence: AF285167


    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA1

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                                                                                                    -                                       
    SP2:                                                                                                                                                            
    SP3:              -                                                                                                                                             
    SP4:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49a ·
    SP1:                                                                                                                                                        -   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 49b ^ 50a · 50b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  

    About this scheme

    ECgene alternative splicing isoforms for ABCA1

    3 Ensembl transcripts including schematic representations:
    ENST00000374733  ENST00000374736  ENST00000341579  
    (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

    ABCA1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ABCA1

    1 / 2 / 3

    16 probe-sets matching ABCA1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    32000_g_at2, 3 U95-A 1 1.00 1.00 -0.29 1.20 AI344681 0.60 1.00 0.82 1
    52656_s_at2, 3 U95-B 1 1.00 1.00 0.92 1.37 AW019972 0.60 1.00 0.82 1

    31998_at2, 3 U95-A 2 1.00 0.97 0.00 0.38 AJ012376 0.80 1.00 0.91 1
    60496_r_at2, 3 U95-C 1 0.94 1.00 0.93 0.89 AL048433 0.80 1.00 0.91 1
    78253_r_at2, 3 U95-E 1 0.81 1.00 0.70 1.06 AL038231 0.40 1.00 0.76 1

    31999_at2, 3 U95-A 1 0.38 1.00 -0.24 0.82 AI344681 0.60 1.00 0.82 1

    78250_f_at*2, 3 U95-E 1 -- -- 0.33 0.70 AL038231 0.40 1.00 0.76 1

    203504_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005502 0.60 1.00 0.82 1

    216066_at2, 3 U133-A 1 1.00 1.00 -- -- AK024328 0.80 1.00 0.91 1

    203505_at2, 3 U133-A 1 1.00 1.00 -- -- AF285167 0.80 1.00 0.91 1

    215869_at*2, 3 U133-A 1 1.00 1.00 -- -- AK022254 0.60 1.00 0.82 1

    203504_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    216066_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    203505_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1570279_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    215869_at*2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  ABCA1 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.719214

    Expression variation in blood from EXPOLDB for ABCA1

    UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477
    Tissue specificity: Widely expressed, but most abundant in macrophages

    (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 ABCA1 gene from 5/11 species (see all 11 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ABCA11   -- ATP-binding cassette, sub-family A (ABC1), member 1 90.93(n)
    95.13(a)
    481651  XM_538773.2  XP_538773.2 
    chimpanzee
    (Pan troglodytes)
    ABCA11   -- ATP-binding cassette, sub-family A (ABC1), member 1 99.57(n)
    99.56(a)
    464630  XM_001138040.1  XP_001138040.1 
    cow
    (Bos taurus)
    ABCA11   -- ATP-binding cassette, sub-family A (ABC1), member 1 90.71(n)
    94.74(a)
    535379  NM_001024693.1  NP_001019864.1 
    rat
    (Rattus norvegicus)
    Abca11   -- ATP-binding cassette, sub-family A (ABC1), member 1 88.37(n)
    93.73(a)
    313210  NM_178095.2  NP_835196.1 
    mouse
    (Mus musculus)
    Abca11, 5 4 (23.10 cM)5
    ATP-binding cassette, sub-family A (ABC1), member 11, 5 88.99(n)1
    95.31(a)1
    113031  NM_013454.31  NP_038482.31 
     AF2872635  AI8455145  (see all 26)
    About this table        Species with no ortholog for ABCA1

    ENSEMBL Gene Tree for ABCA1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ABCA1 gene
    ABCA42  ABCA72  

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


    10/1239 NCBI SNPs in ABCA1 are shown (see all 1239 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 452)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 9 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs3637171,2
    A,C,F,H,O106584521(-) TTCCAA/GAATTT 1 -- ut3120Minor allele frequency- G:0.17PA NA EA MN EU WA 2607
    rs18009771,2
    A,C,F,H,O106730271(-) TAGTCC/TCGGCA 1 -- ng31 ese35Minor allele frequency- T:0.32MN EU EA WA 602
    rs22308081,2
    A,C,F,H,O106602625(-) CACCAG/AAAATA 1 R/K mis127Minor allele frequency- A:0.42MN EA CSAM EU WA NA 3832
    rs41493391,2
    A,C,F,H106584977(-) CAATAT/CTGGGC 1 -- ut31 ese39Minor allele frequency- C:0.49EU EA WA NA 870
    rs41493381,2
    A,C,F,H106585724(-) GTCTCT/CAGGCA 1 -- ut31 ese35Minor allele frequency- C:0.49EU EA WA NA 448
    rs22308061,2
    A,C,F,H106660688(-) ACCAAG/AGGAGA 1 K/R mis1 trp318Minor allele frequency- A:0.44MN CSAM EA EU WA NA 1566
    rs41493401,2
    A,C,F,H106584506(-) ATTAAC/TGCTAA 1 -- ut315Minor allele frequency- T:0.09EU EA WA NA 466
    rs24824321,2
    A,C,F,H106582993(+) AACATT/CTGAAT 1 -- ng514Minor allele frequency- C:0.21EU EA WA 418
    rs18009781,2
    C,F,H106705799(-) CTGGGG/CGTGCT 1 -- ut51 ese35Minor allele frequency- C:0.10EU EA WA NA 416
    rs24224931,2
    C,F,H106730816(-) CTGTCC/TGCCTT 1 -- ng315Minor allele frequency- T:0.44PA MN EA 570
    About this table

    HapMap Linkage Disequilibrium images for ABCA1 (up to first 250kb)

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

    OMIM: 600046   disorders: 205400  604091  143890  

    UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477

  • Defects in ABCA1 are a cause of high density lipoprotein deficiency type 1 (HDLD1)
    [MIM:205400]; also known as analphalipoproteinemia or Tangier disease (TGD). HDLD1 is a 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
  • Defects in ABCA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2)
    [MIM:604091]; also known as familial hypoalphalipoproteinemia (FHA). HDLD2 is 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
  • 10/41 Novoseek disease relationships for ABCA1 gene (see all 41 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    tangier disease 97.50 159 10535983 (6), 12236582 (3), 11855831 (2), 12576507 (2) (see all 99)
    lipoprotein deficiencies 88.12 8 11785958 (2), 11476961 (1), 12706378 (1), 15177564 (1) (see all 6)
    hypoalphalipoproteinemia 82.92 8 11279031 (2), 15767853 (1), 16610615 (1), 17287470 (1) (see all 6)
    atherosclerosis 77.24 98 19201688 (7), 11752403 (5), 15528481 (3), 10882340 (2) (see all 59)
    hyperalphalipoproteinemia 65.38 1 11457883 (1)
    scott syndrome 56.58 2 15790791 (1), 16855366 (1)
    lipoprotein disorder 53.11 1 15019541 (1)
    cardiovascular diseases 50.30 20 15262183 (2), 16183915 (2), 17093293 (1), 16446539 (1) (see all 13)
    coronary artery disease 50.10 25 11086027 (2), 11940086 (2), 18996286 (2), 17412755 (2) (see all 19)
    atherosclerotic plaque 46.64 9 15961705 (2), 15528463 (2), 18221072 (1), 17922810 (1) (see all 7)
    About this table

    Human Gene Mutation Database: ABCA1
    Genetic Association Database: ABCA1
    Human Genome Epidemiology Navigator: ABCA1 (102 documents)

    (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

    10/665 PubMed articles for ABCA1 gene (see all 665 ):
    (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: 19 HGNC: 29 AceView: ABCA1 Ensembl:ENSG00000165029 euGenes: HUgn19
    ECgene: ABCA1 H-InvDB: ABCA1
    (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

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=ABCA1
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABCA1
    (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



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