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ABCA8 Gene

protein-coding   GIFtS: 53

GC17M064376
ATP-binding cassette, sub-family A (ABC1), member 8
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)
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Aliases
KIAA0822 1, 2, 3, 5
MGC163152 2
Descriptions
ATP-binding cassette, sub-family A (ABC1), member 8 2
ATP-binding cassette, sub-family A member 8 2
ATP-binding cassette, sub-family A, member 8 1
External Ids
HGNC: 381
Entrez Gene: 103512
UniProtKB: O949113
Ensembl: ENSG000001413387
Search outside databases for aliases for ABCA8 gene

Previous GC identifers: GC17M066662 GC17M069823 GC17M067327 GC17M067460

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for ABCA8:
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. The
function of this protein has not yet been determined. [provided by RefSeq]

UniProtKB/Swiss-Prot: ABCA8_HUMAN, O94911
Function: ATP-dependent lipophilic drug transporter

Gene Wiki entry for ABCA8

(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)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ABCA8 gene  

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

ABCA8 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 GC17M064376:     (about GC identifiers)

Start:
64,375,025 bp from pter
End:
64,463,128 bp from pter
Size:
88,104 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: ABCA8_HUMAN, O94911 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family A member 8  
Size: 1581 amino acids; 179245 Da
Subcellular location: Cell membrane; Multi-pass membrane protein (Probable)
Secondary accessions: Q86WW0
Alternative splicing: 2 isoforms:  O94911-1   O94911-2   

REFSEQ proteins: NP_009099.1  

ENSEMBL proteins: 
ENSP00000269080 ENSP00000364688 


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 (ABCA8)
Human Recombinant Proteins from Abnova (ABCA8)
                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:0005886 plasma membrane IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for ABCA8: 
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 (ABCA8), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for ABCA8

Assays for ABCA8: 
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  ABCA8 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry O94911

ProtoNet protein and cluster: O94911

UniProtKB/Swiss-Prot: ABCA8_HUMAN, O94911
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.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ABCA8)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ABCA8)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_007168

              Applied Biosystems Silencer® siRNAs for ABCA8

              Sigma-Aldrich siRNA and siRNA Panels for ABCA8  
                     Sigma-Aldrich shRNA for ABCA8  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for ABCA8
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_007168
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_007168
                                 untagged cDNA clone in CMV expression vector: NM_007168 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_007168

UniProtKB/Swiss-Prot: ABCA8_HUMAN, O94911
Function: ATP-dependent lipophilic drug transporter
Biophysicochemical properties: Kinetic parameters: KM=30.4 uM for estradiol-beta-glucuronide;
KM=0.1 uM for LTC4; KM=10.3 uM for taurochlorate; KM=5.0 uM for PAH; KM=0.5 uM for estrone
sulfate; KM=0.4 uM for ochratoxin A;

4 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--
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IDA12379217
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.)
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1 Kegg Pathway  (Kegg details for ABCA8):
 hsa02010 ABC transporters

   GeneDecks  ABCA8 for the pathways selected above  
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 Gene Network CentralTM Interacting Genes and Proteins Network for  ABCA8 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0006810 transport IDA12379217
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 ABCA8

(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 (ABCA8)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ABCA8)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_007168

              Sigma-Aldrich siRNA and siRNA Panels for ABCA8  
                     Sigma-Aldrich shRNA for ABCA8  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_007168  

REFSEQ mRNAs for ABCA8 gene: 

NM_007168.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_007168  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_007168
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_007168
                                 untagged cDNA clone in CMV expression vector: NM_007168 

Additional cDNA sequence: 

AB020629.1 AK295876.1 AK304286.1 AK304360.1 BC010392.1 BC024003.1 BC037309.1 BC047765.1 
BC094689.1 BC130280.1 BC143971.1 BC143972.1 

16 DOTS entries:

DT.111969  DT.95268499  DT.100742812  DT.100645320  DT.95195812  DT.102830714  DT.40112795  DT.95355566 
DT.97772757  DT.95261513  DT.92423835  DT.95268498  DT.99933116  DT.92033695  DT.99989793  DT.99998402 

24/121 AceView cDNA sequences (see all 121 ):

BQ717280 AV735192 BM673409 BU146319 AW316744 C01150 BM091115 CD514231 
NM_007168 CA395306 BM091421 AA634308 BX952211 BQ880430 AU099668 BQ883751 
CD672127 AA805221 AI272904 AI287342 CD677363 BF447511 BU581342 AI888529 

highest scoring ESTs for ABCA8:

AB020629 AI287342 AU099668 BC010392 BC024003 BC047765 BF678682 BG717272 BM924903 BQ877947 

Unigene Cluster for ABCA8:

ATP-binding cassette, sub-family A (ABC1), member 8
Hs.58351  [show with all ESTs]
Unigene Representative Sequence: NM_007168


GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA8

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1:                                                                                                                                                            
SP2:              -                                                                                                                                             
SP3:                                                                                                                                                            
SP4:                                                                                                                                                            

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:                              
SP2:                              
SP3:                              
SP4:                              

About this scheme

ECgene alternative splicing isoforms for ABCA8

2 Ensembl transcripts including schematic representations:
ENST00000269080  ENST00000375538  
(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

ABCA8 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for ABCA8

1 / 2 / 3

6 probe-sets matching ABCA8 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
35717_at2, 3 U95-A 1 1.00 1.00 0.93 1.60 AB020629 1.00 1.00 1.00 1

45012_s_at2, 3 U95-B 2 1.00 0.97 0.92 0.47 AI287342 0.80 1.00 0.91 1

204719_at2, 3 U133-A 1 1.00 1.00 -- -- NM_007168 0.60 1.00 0.82 1

1565778_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

204719_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

1565780_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
GeneDecks  ABCA8 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: ACTGAGTAGG

SOURCE GeneReport for Unigene cluster: Hs.58351

Expression variation in blood from EXPOLDB for ABCA8

UniProtKB/Swiss-Prot: ABCA8_HUMAN, O94911
Tissue specificity: Widely expressed with higher expression in heart, skeletal muscle and liver

(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 ABCA8 gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
ABCA81   -- ATP-binding cassette, sub-family A (ABC1), member 8 84.02(n)
79.19(a)
490898  XM_548020.2  XP_548020.2 
chimpanzee
(Pan troglodytes)
ABCA81   -- ATP-binding cassette, sub-family A (ABC1), member 8 97.92(n)
97.52(a)
454847  XM_001165831.1  XP_001165831.1 
rat
(Rattus norvegicus)
Abca81   -- ATP-binding cassette, sub-family A (ABC1), member 8 77.48(n)
72.34(a)
303637  XM_221074.4  XP_221074.4 
mouse
(Mus musculus)
Abca8b1, 5 11 (69.00 cM)5
ATP-binding cassette, sub-family A (ABC1), member 8b1, 5 79.05(n)1
75.33(a)1
274041  NM_013851.11  NP_038879.11 
 AA2776645  AF2133935  (see all 12)
chicken
(Gallus gallus)
ABCA81   -- ATP-binding cassette, sub-family A (ABC1), member 8 59.32(n)
50.2(a)
417440  XM_415691.2  XP_415691.2 
About this table        Species with no ortholog for ABCA8

ENSEMBL Gene Tree for ABCA8
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for ABCA8 gene
ABCA102  ABCA92  ABCA62  ABCA52  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/510 NCBI SNPs in ABCA8 are shown (see all 510 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 183)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 17 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs169734461,2
C,F,H64440055(+) CATTGT/CCATCA 1 A/T mis112Minor allele frequency- C:0.06NA EU EA WA 1012
rs169734241,2
C,F,H64415596(+) AACACA/CTATTT 1 C/G mis111Minor allele frequency- C:0.03NA EU EA WA 982
--
rs99167921,2
A,C64464217(+) gtgtgC/Tgtctg 1 -- ng310--------
rs354031751,2
C,F64383432(+) GGCACC/TCCTTT 1 G/S mis15Minor allele frequency- T:0.04NA EU EA WA 494
rs356218471,2
C,F64435678(+) AAATCG/ACCAAT 1 V/A mis15Minor allele frequency- A:0.02NA EU EA WA 492
rs358443161,2
C,F64425854(+) CTTTCA/CGAAGG 1 L/R mis15Minor allele frequency- C:0.01NA EU EA WA 488
rs75020271,2
C,H64464633(+) tgtttC/Tttaac 1 -- ng314Minor allele frequency- T:0.00EU EA WA 418
rs41479791,2
H64436919(-) TCACCG/AGCCTG 1 S/G mis1 ese34Minor allele frequency- A:0.00EU EA WA 420
rs121505101,2
H64430013(+) CTTTAT/AATTCT 1 F/Y mis1 ese34Minor allele frequency- A:0.00EU EA WA 406
--
rs110778281,2
C64464055(+) ttttcA/Gtggta 1 -- ng310--------
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HapMap Linkage Disequilibrium images for ABCA8 (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: 612505

Human Genome Epidemiology Navigator: ABCA8 (1 document)

(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)
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10 PubMed articles for ABCA8 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: 10351 HGNC: 38 AceView: ABCA8 Ensembl:ENSG00000141338 euGenes: HUgn10351
ECgene: ABCA8 H-InvDB: ABCA8
(According to HUGE)
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HUGE: KIAA0822
(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)
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  --
(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 ABCA8:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for ABCA8-related products

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 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for ABCA8 Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for ABCA8 Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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