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Aliases & Descriptions for ABCA7
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ABCA-SSN 2, 3 | | ABCX 1, 2, 5 | | FLJ40025 2 |
| | | Descriptions |
|---|
| ATP-binding cassette, sub-family A (ABC1), member 7 2 | | ATP-binding cassette, sub-family A, member 7 2 | | Autoantigen SS-N 2, 3 | | Macrophage ABC transporter 2, 3 |
|
| | Search outside databases for aliases for ABCA7 genePrevious GC identifers: GC19P001116 GC19P000981 |
Summaries for ABCA7(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for ABCA7: The 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 intra-cellular 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. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq] UniProtKB/Swiss-Prot: ABCA7_HUMAN, Q8IZY2Function: Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiationGene Wiki entry for ABCA7 |
Genomic Location for ABCA7
(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 ABCA7 gene 
Entrez Gene cytogenetic band: 19p13.3 Ensembl cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13.3ABCA7 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 19 GeneLoc Exon Structure GeneLoc location for GC19P000992:
(about GC identifiers)
Start:
|
991,102 bp from pter |
End:
|
1,016,571 bp from pter |
Size:
|
25,470 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000019.8 NT_011255.14
| Proteins for ABCA7
(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: ABCA7_HUMAN, Q8IZY2 (See
protein sequence)Recommended Name: ATP-binding cassette sub-family A member 7 Size: 2146 amino acids; 234350 Da
Subcellular location: Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein. Note=Localizes to cell membrane ruffles and phagocytic cups of macrophages stimulated with C1q or apoptotic cells. Localizes to the cytoplasm of resting macrophages, probably in Golgi and endosomes. Localizes to the apical brush border of cells in the proximal tubules of kidney. Isoform 2 may localize to the endoplasmic reticulum
Developmental stage: Expressed in fetal tissues. Strongly expressed in fetal liver
Secondary accessions: Q96S58 Q9BZC4 Q9NR73 Q9UKP8Alternative splicing: 2 isoforms: Q8IZY2-1 Q8IZY2-2 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_061985.2
ENSEMBL proteins: ENSP00000263094
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/9 Gene Ontology (GO) cellular component terms (links to tree view) (see all 9
): About this table
Antibodies for ABCA7: Assays for ABCA7: | Protein
Domains/ Families for ABCA7(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 Q8IZY2
ProtoNet protein and cluster: Q8IZY2 UniProtKB/Swiss-Prot: ABCA7_HUMAN, Q8IZY2Similarity: Belongs to the ABC transporter family. ABCA subfamilySimilarity: Contains 2 ABC transporter domains | Gene Function for ABCA7
(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_019112
Applied Biosystems Silencer® siRNAs for ABCA7
Sigma-Aldrich siRNA and siRNA Panels for ABCA7  Sigma-Aldrich shRNA for ABCA7  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_019112                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_019112                                  untagged cDNA clones in CMV expression vector (see all 2): NM_019112 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_019112
UniProtKB/Swiss-Prot: ABCA7_HUMAN, Q8IZY2Function: Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiationInduction: Up-regulated in macrophages upon cholesterol uptake and inversely regulated upon cholesterol deloading from the cells (at protein level). Up-regulated in keratinocytes during terminal differentiation3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Abca7):
5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for ABCA7
(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 ABCA7 
5/10 Interacting proteins for ABCA7 (ENSP000002630943) via UniProtKB, MINT, and/or STRING (see all 10
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for ABCA7(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 ABCA7 4 Novoseek chemical compound relationships for ABCA7 gene
About this table
|
Transcripts for ABCA7(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_019112
Sigma-Aldrich siRNA and siRNA Panels for ABCA7  Sigma-Aldrich shRNA for ABCA7  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_019112 REFSEQ mRNAs for ABCA7 gene: NM_019112.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_019112               OriGene GFP tagged cDNA clone in CMV expression vector: NM_019112                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_019112                                  untagged cDNA clones in CMV expression vector (see all 2): NM_019112  Additional cDNA sequence: AB055390.1 AF140342.1 AF250238.1 AF328787.1 AK097344.1 AK301108.1 AK310127.1 AK310909.1 AL137481.1 12 DOTS entries: DT.100773838 DT.87046747 DT.100026519 DT.100773843 DT.202026 DT.408328 DT.121417280 DT.97815725 DT.121417268 DT.121417290 DT.121417293 DT.95242964 24/99 AceView cDNA sequences (see all 99
):AF140342 AF328787 BQ955522 BQ959013 AK097344 BU528031 CD629704 BE793677 AI076219 NM_019112 BM709682 BG674537 AA703073 BU734175 CD629714 CD629705 BU675136 AI831940 AI668632 NM_033308 CD629699 AI733552 BU430216 BQ639376
highest scoring ESTs for ABCA7:AI419066 AA181557 AA811169 AB055390 AF250238 AF328787 AI076219 AI248699 AI374872 AI400695 Unigene Cluster for ABCA7: ATP-binding cassette, sub-family A (ABC1), member 7 Hs.134514 [show with all ESTs]Unigene Representative Sequence: NM_019112
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA7 (see all 11
)
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25a | · | 25b | ^ | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35a | · | 35b | · | 35c | ^ | 36 | ^ | 37a | · | 37b | ^ | 38 | ^ | 39 | ^ | 40 | ^ | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 41 | ^ | 42 | ^ | 43a | · | 43b | ^ | 44 | ^ | 45a | · | 45b | · | 45c | ^ | 46 | ^ | 47 | ^ | 48 | |
| SP1: | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for ABCA7
1 Ensembl transcript including schematic representation: ENST00000263094
|
Expression for ABCA7
(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
| ABCA7 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ABCA7
1 / 2 / 3 5 probe-sets matching ABCA7 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GAGGCCGCCT
SOURCE GeneReport for Unigene cluster: Hs.134514 UniProtKB/Swiss-Prot: ABCA7_HUMAN, Q8IZY2Tissue specificity: Expressed in leukocytes (at protein level). Widely expressed. Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow. Isoform 2 is more abundant in lymph node, spleen, thymus and trachea than isoform 1 which is more strongly expressed in brain and bone marrow |
Orthologs for ABCA7
(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 ABCA7 gene from 5/6 species (see all 6
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
ABCA71 |
-- |
ATP-binding cassette, sub-family A (ABC1), member 7 |
82.6(n) 80.95(a) |
485090 XM_542208.2 XP_542208.2 |
chimpanzee (Pan troglodytes) |
ABCA71 |
-- |
ATP-binding cassette, sub-family A (ABC1), member 7 |
98.74(n) 98.63(a) |
455538 XM_512226.2 XP_512226.2 |
cow (Bos taurus) |
ABCA71 |
-- |
ATP-binding cassette, sub-family A (ABC1), member 7 |
83.22(n) 83.29(a) |
511762 XM_589159.3 XP_589159.3 |
rat (Rattus norvegicus) |
Abca71 |
-- |
ATP-binding cassette, sub-family A (ABC1), member 7 |
78(n) 78.97(a) |
299609 NM_207598.1 NP_997481.1 |
mouse (Mus musculus) |
Abca71, 5 |
10 (44.00 cM)5
|
ATP-binding cassette, sub-family A (ABC1), member 71, 5 |
78.04(n)1 78.84(a)1 |
274031 NM_013850.11 NP_038878.11 AA0494865 AC0871145 (see all 18) |
About this table Species with no ortholog for ABCA7
ENSEMBL Gene Tree for ABCA7 | Paralogs for ABCA7(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ABCA7 gene
- ABCA42 ABCA12
|
SNPs/Variants for ABCA7(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 ABCA7 (up to first 250kb)
|
Disorders & Mutations for ABCA7
(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: 605414
Genetic Association Database: ABCA7 Human Genome Epidemiology Navigator: ABCA7 (3 documents)
|
Medical News for ABCA7(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ABCA7 (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
| 10/24 PubMed articles for ABCA7 gene (see all 24
):- Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7). (PubMed id 10873640)1, 3, 4 Kaminski W.E....Schmitz G. (2000)
- Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein. (PubMed id 14570867)1, 3, 4 Abe-Dohmae S....Yokoyama S. (2004)
- Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjogren's syndrome. (PubMed id 15593299)3, 6 Harangi M....Schmitz G. (2005)
- Adenosine triphosphate binding cassette (ABC) transporters are expressed and regulated during terminal keratinocyte differentiation: a potential role for ABCA7 in epidermal lipid reorganization. (PubMed id 12925201)3, 4 Kielar D.... Schmitz G. (2003)
- Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release. (PubMed id 14592415)3, 4 Ikeda Y.... Ueda K. (2003)
- ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux. (PubMed id 12917409)3, 4 Wang N.... Tall A.R. (2003)
- 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)
- Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter. (PubMed id 11435699)3, 4 Broccardo C.... Chimini G. (2001)
- Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjogren's Syndrome. (PubMed id 11355874)3, 4 Tanaka A.R.... Ueda K. (2001)
- Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene. (PubMed id 11095984)3, 4 Kaminski W.E.... Schmitz G. (2000)
|
Search for ABCA7
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ABCA7
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ABCA7
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ABCA7(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 ABCA7(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 ABCA7:

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