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Aliases & Descriptions for ABCA6
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EST155051 1, 2 | | FLJ43498 2 |
| | | Descriptions |
|---|
| ABC transporter ABCA6 2 | | ATP-binding cassette A6 2 | | ATP-binding cassette, sub-family A (ABC1), member 6 2 | | ATP-binding cassette, sub-family A, member 6 2 |
|
| | Search outside databases for aliases for ABCA6 genePrevious GC identifers: GC17M066873 GC17M070035 GC17M067539 GC17M067671 |
Summaries for ABCA6(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for ABCA6: 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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq] UniProtKB/Swiss-Prot: ABCA6_HUMAN, Q8N139Function: Probable transporter which may play a role in macrophage lipid homeostasis |
Genomic Location for ABCA6
(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 ABCA6 gene 
Entrez Gene cytogenetic band: 17q24.3 Ensembl cytogenetic band: 17q24.3 HGNC cytogenetic band: 17q21ABCA6 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 GC17M064586:
(about GC identifiers)
Start:
|
64,586,442 bp from pter |
End:
|
64,649,610 bp from pter |
Size:
|
63,169 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000017.9 NT_010641.15
| Proteins for ABCA6
(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: ABCA6_HUMAN, Q8N139 (See
protein sequence)Recommended Name: ATP-binding cassette sub-family A member 6 Size: 1617 amino acids; 184286 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Developmental stage: Expressed in fetal kidney, lung and liver
Sequence caution: Sequence=AAM77557.1; Type=Frameshift; Positions=998, 1000; Sequence=AAM77558.1; Type=Frameshift; Positions=998, 1000;
Secondary accessions: Q6NSH9 Q8N856 Q8WWZ6Alternative splicing: 3 isoforms: Q8N139-1 Q8N139-2 Q8N139-3 REFSEQ proteins: NP_525023.2
ENSEMBL proteins: ENSP00000284425
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:0016020 | membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- | About this table
Antibodies for ABCA6: Assays for ABCA6: | Protein
Domains/ Families for ABCA6(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 Q8N139
ProtoNet protein and cluster: Q8N139 UniProtKB/Swiss-Prot: ABCA6_HUMAN, Q8N139Similarity: Belongs to the ABC transporter family. ABCA subfamilySimilarity: Contains 2 ABC transporter domains | Gene Function for ABCA6
(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 vectors (see all 2): NM_172346
Applied Biosystems Silencer® siRNAs for ABCA6
Sigma-Aldrich siRNA and siRNA Panels for ABCA6  Sigma-Aldrich shRNA for ABCA6  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_080284                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_080284                                  untagged cDNA clone in CMV expression vector: NM_080284 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_080284
UniProtKB/Swiss-Prot: ABCA6_HUMAN, Q8N139Function: Probable transporter which may play a role in macrophage lipid homeostasisInduction: Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophagesGenatlas biochemistry entry for ABCA6:ATP binding cassette superfamily A,member 63 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for ABCA6
(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 ABCA6 
1 Gene Ontology (GO) biological process term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006810 | transport |
IEA | -- | About this table
|
Drugs & Compounds for ABCA6(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 ABCA6
|
Transcripts for ABCA6(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 vectors (see all 2): NM_172346
Sigma-Aldrich siRNA and siRNA Panels for ABCA6  Sigma-Aldrich shRNA for ABCA6  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_080284 REFSEQ mRNAs for ABCA6 gene: NM_080284.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_080284               OriGene GFP tagged cDNA clone in CMV expression vector: NM_080284                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_080284                                  untagged cDNA clone in CMV expression vector: NM_080284  Additional cDNA sequence: AF373290.1 AK097296.1 AK125487.1 AK308431.1 AY028898.1 BC029852.1 BC070125.1 BC125231.1 BC125232.1 BX647672.1 CR593055.1 9 DOTS entries: DT.92414827 DT.92041769 DT.102835331 DT.95159621 DT.101981440 DT.100779501 DT.75181599 DT.91715365 DT.91735387 24/78 AceView cDNA sequences (see all 78
):CB163196 BX342947 AK125487 AY028898 CD516271 CR593055 BQ722528 AF373290 BF589727 NM_080284 NM_172346 BC029852 AI695358 AV763271 BX106954 BQ008043 BQ185780 BX342946 AW576555 AI476130 AK097296 CD104808 AA703500 AA099357
highest scoring ESTs for ABCA6:AI651024 AY028898 BC029852 BI489985 BI767934 BG538229 AA101906 CD000686 CF596886 DA361238 Unigene Cluster for ABCA6: ATP-binding cassette, sub-family A (ABC1), member 6 Hs.709514 [show with all ESTs]Unigene Representative Sequence: BX647672
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000284425
|
Expression for ABCA6
(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
| ABCA6 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ABCA6
1 / 2 / 3 4 probe-sets matching ABCA6 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CTGTGGTCTG
SOURCE GeneReport for Unigene cluster: Hs.709514
Expression variation in blood from EXPOLDB for ABCA6 UniProtKB/Swiss-Prot: ABCA6_HUMAN, Q8N139Tissue specificity: Widely expressed with higher expression in liver |
Orthologs for ABCA6
(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 ABCA6 gene from 5 species
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
ABCA61 |
-- |
ATP-binding cassette, sub-family A (ABC1), member 6 |
82.5(n) 75.33(a) |
480456 XM_845829.1 XP_850922.1 |
chimpanzee (Pan troglodytes) |
ABCA61 |
-- |
ATP-binding cassette, sub-family A (ABC1), member 6 |
98.47(n) 97.95(a) |
742817 XM_001146278.1 XP_001146278.1 |
cow (Bos taurus) |
ABCA61 |
-- |
ATP-binding cassette, sub-family A (ABC1), member 6 |
78.76(n) 72.56(a) |
537351 XM_617513.3 XP_617513.3 |
mouse (Mus musculus) |
Abca61, 5 |
115
|
ATP-binding cassette, sub-family A (ABC1), member 61, 5 |
76.48(n)1 67.97(a)1 |
761841 NM_147218.11 NP_671751.11 AA9859775 AF4983615 (see all 13) |
rice (Oryza sativa) |
Os.186952 |
-- |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
71.6(n) |
AK122145.1 |
About this table Species with no ortholog for ABCA6
ENSEMBL Gene Tree for ABCA6 | Paralogs for ABCA6(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ABCA6 gene
- ABCA102 ABCA92 ABCA52 ABCA82
|
SNPs/Variants for ABCA6(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 ABCA6 (up to first 250kb)
|
Disorders & Mutations for ABCA6
(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: 612504
Human Genome Epidemiology Navigator: ABCA6 (2 documents)
|
Medical News for ABCA6(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ABCA6 (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
| 10/11 PubMed articles for ABCA6 gene (see all 11
):- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- ABCA6, a novel A subclass ABC transporter. (PubMed id 11478798)3, 4 Kaminski W.E.... Schmitz G. (2001)
- ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport. (PubMed id 10639163)3, 4 Klucken J.... Schmitz G. (2000)
- Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. (PubMed id 8894702)2, 3 Allikmets R....Dean M. (1996)
- Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)4 Chen R.... Zou H. (2009)
- 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)
- Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)3 Hosgood H.D....Lan Q. (2008)
- 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)
- The human ATP-binding cassette (ABC) transporter superfamily. (PubMed id 11435397)3 Dean M....Allikmets R. (2001)
|
Search for ABCA6
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ABCA6
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ABCA6
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ABCA6(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 ABCA6(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 ABCA6:

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