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Aliases & Descriptions for ABCA8
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| 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 |
|
| | Search outside databases for aliases for ABCA8 genePrevious GC identifers: GC17M066662 GC17M069823 GC17M067327 GC17M067460 |
Summaries for ABCA8(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| 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, O94911Function: ATP-dependent lipophilic drug transporterGene Wiki entry for ABCA8 |
Genomic Location 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) About This Section
| 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: 17q24ABCA8 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
| Proteins for ABCA8
(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: 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: Q86WW0Alternative splicing: 2 isoforms: O94911-1 O94911-2 REFSEQ proteins: NP_009099.1
ENSEMBL proteins: ENSP00000269080 ENSP00000364688
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 ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005886 | plasma membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- | About this table
Antibodies for ABCA8: Assays for ABCA8: | Protein
Domains/ Families for ABCA8(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry O94911
ProtoNet protein and cluster: O94911 UniProtKB/Swiss-Prot: ABCA8_HUMAN, O94911Similarity: Belongs to the ABC transporter family. ABCA subfamilySimilarity: Contains 2 ABC transporter domains | Gene Function for ABCA8
(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
|               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 
              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, O94911Function: ATP-dependent lipophilic drug transporterBiophysicochemical 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): About this table | Pathways & Interactions for ABCA8
(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
|
Gene Network CentralTM Interacting Genes and Proteins Network for ABCA8 
1 Gene Ontology (GO) biological process term (links to tree view): About this table
|
Drugs & Compounds for ABCA8(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 Tocris compounds for ABCA8
|
Transcripts 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
|               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
|
Expression for ABCA8
(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 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, O94911Tissue specificity: Widely expressed with higher expression in heart, skeletal muscle and liver |
Orthologs for ABCA8
(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 for ABCA8(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ABCA8 gene
- ABCA102 ABCA92 ABCA62 ABCA52
|
SNPs/Variants for ABCA8(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ABCA8 (up to first 250kb)
|
Disorders & Mutations for ABCA8
(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)
|
Medical News for ABCA8(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ABCA8 (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 PubMed articles for ABCA8 gene:- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Functional analysis of ABCA8, a new drug transporter. (PubMed id 12379217)3, 4 Tsuruoka S.... Fujimura A. (2002)
- 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. (PubMed id 12111378)3, 4 Iida A.... Nakamura Y. (2002)
- Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)3, 4 Nagase T....Ohara O. (1998)
- Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)3 Saito A....Kamatani N. (2009)
- Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)4 Chen R.... Zou H. (2009)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3 Ota T....Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)3 Strausberg R.L....Marra M.A. (2002)
- Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)3 Harrington J.J....Ducar M. (2001)
- Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)3 Bonaldo M.F....Soares M.B. (1996)
|
Search for ABCA8
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ABCA8
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ABCA8
(According to HUGE)
About This Section
| |
Specialized Databases showing ABCA8(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
|
| About This Section
| --
| Services for ABCA8(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:

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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
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