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Aliases & Descriptions for ABCA5
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ABC13 2 DKFZp451F117 2 DKFZp779N2435 2 EST90625 1 , 2 FLJ16381 2 KIAA1888 3 , 5
Descriptions ATP-binding cassette A5 2 ATP-binding cassette, sub-family A (ABC1), member 5 2 ATP-binding cassette, sub-family A , member 5 2 ATP-binding cassette, sub-family A, member 5 1
Search outside databases for aliases for ABCA5 genePrevious GC identifers: GC17M067042 GC17M070203 GC17M067707 GC17M067839
Summaries for ABCA5 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ABCA5 : The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-bindingcassette (ABC) transporters. ABC proteins transport various molecules across extra- andintracellular 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. Membersof the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellulareukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither thesubstrate nor the function of this gene is known. Alternative splicing of this gene results inseveral transcript variants; however, not all variants have been fully described. [provided byRefSeq] UniProtKB/Swiss-Prot: ABCA5_HUMAN, Q8WWZ7 Function : May play a role in the processing of autolysosomes (By similarity)
Genomic Location for ABCA5
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ABCA5 gene Entrez Gene cytogenetic band: 17q24.3 Ensembl cytogenetic band: 17q24.3 HGNC cytogenetic band: 17q21-q25 ABCA5 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 GC17M064754:
(about GC identifiers )
Start:
64,754,386 bp from pter
End:
64,834,885 bp from pter
Size:
80,500 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000017.9 NT_010641.15 Proteins for ABCA5
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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: ABCA5_HUMAN, Q8WWZ7 (See
protein sequence )Recommended Name: ATP-binding cassette sub-family A member 5 Size : 1642 amino acids; 186508 Da
Subcellular location : Lysosome membrane; Multi-pass membrane protein. Late endosome membrane;Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein (By similarity)
Developmental stage : Expressed in fetal liver, kidney and brain
Secondary accessions : Q8IVJ2 Q96LJ1 Q96MS4 Q96PZ9 Q9NY14Alternative splicing : 3 isoforms : Q8WWZ7-1 Q8WWZ7-2 Q8WWZ7-3
Post-translational modifications:
N-glycosylated (By similarity)1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_061142.2 NP_758424.1 ENSEMBL proteins: ENSP00000376444 ENSP00000319766 ENSP00000376443 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7
):
About this table Antibodies for ABCA5: Assays for ABCA5:
Protein
Domains/ Families for ABCA5(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q8WWZ7 ProtoNet protein and cluster: Q8WWZ7
UniProtKB/Swiss-Prot: ABCA5_HUMAN, Q8WWZ7 Similarity : Belongs to the ABC transporter family. ABCA subfamilySimilarity : Contains 2 ABC transporter domains
Gene Function for ABCA5
(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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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_172232 Applied Biosystems Silencer ® siRNAs for ABCA5 Sigma-Aldrich siRNA and siRNA Panels for ABCA5 Sigma-Aldrich shRNA for ABCA5 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_018672                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_018672                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_018672  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_018672 UniProtKB/Swiss-Prot: ABCA5_HUMAN, Q8WWZ7 Function : May play a role in the processing of autolysosomes (By similarity)
Genatlas biochemistry entry for ABCA5 :ATP binding cassette superfamily,subfamily A,member 5,mouse ABC4 homolog
8 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Abca5) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for ABCA5
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Interacting protein for ABCA5 (ENSP00000319766 3 ) via UniProtKB, MINT, and/or STRING About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0006810 transport
IEA --
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Drugs & Compounds for ABCA5 (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 )
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Browse Tocris compounds for ABCA5
Transcripts for ABCA5(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
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_172232 Sigma-Aldrich siRNA and siRNA Panels for ABCA5 Sigma-Aldrich shRNA for ABCA5 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_018672 NM_172232
REFSEQ mRNAs for ABCA5 gene (2 alternative transcripts): NM_018672.3 NM_172232.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_018672 NM_172232
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_018672                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_018672                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_018672  
Additional cDNA sequence: AB067475.1 AJ275973.3 AJ512612.1 AK056533.1 AK058170.1 AK094416.1 AK096664.1 AK122803.1 AK292592.1 AY028897.1 BC029426.1 BC054480.1 BC070126.1 BC146819.1 BX640746.1 BX647447.1 BX648540.1 U66672.1
18 DOTS entries : DT.101965656 DT.100718026 DT.101984314 DT.100775117 DT.92427874 DT.40280931 DT.99971934 DT.87046995 DT.100775118 DT.100775120 DT.86835941 DT.120986894 DT.120986890 DT.120987012 DT.95163499 DT.97775229 DT.100649690 DT.92033695
24/208 AceView cDNA sequences (see all 208
):AB067475 AK058170 BF061307 BX280304 BG566938 CA941702 BC029426 BU686259 AL698749 BQ441353 AW189609 CD629438 CA773136 NM_172232 AW440582 BG288838 AY247065 AA988796 AI698175 AY028897 AI032927 CA773849 BX415090 AI350336
highest scoring ESTs for ABCA5 :AA889893 AI149299 AI220973 AI568925 AJ275973 AJ512612 AL712051 BC029426 BF061307 BF448717
Unigene Cluster for ABCA5: ATP-binding cassette, sub-family A (ABC1), member 5 Hs.421474 [show with all ESTs ] Unigene Representative Sequence: NM_018672 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA5 ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ SP1 :                                                     SP2 :                                                 -     SP3 :                                                     SP4 :                                                     SP5 :     -   -                                              
ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b SP1 :                           -             SP2 :                                       SP3 :                                       SP4 :                                       SP5 :                                      
About this scheme ECgene alternative splicing isoforms for ABCA5 3 Ensembl transcripts including schematic representations : ENST00000392677
ENST00000320086
ENST00000392676
Expression for ABCA5
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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ABCA5 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ABCA5 1 / 2 / 3
4 probe-sets matching ABCA5 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TAAATAGGCASOURCE GeneReport for Unigene cluster: Hs.421474 Expression variation in blood from EXPOLDB for ABCA5
UniProtKB/Swiss-Prot: ABCA5_HUMAN, Q8WWZ7 Tissue specificity : Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney,liver and placenta
Orthologs for ABCA5
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ABCA5 gene from 5/10 species (see all 10
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
ABCA51
--
ATP-binding cassette, sub-family A (ABC1), member 5
92.73(n) 93.06(a)
480455 XM_537573.2 XP_537573.2
chimpanzee (Pan troglodytes)
ABCA51
--
ATP-binding cassette, sub-family A (ABC1), member 5
99.53(n) 99.03(a)
454848 XM_001166542.1 XP_001166542.1
cow (Bos taurus)
ABCA51
--
ATP-binding cassette, sub-family A (ABC1), member 5
85.69(n) 87.25(a)
510497 XM_587636.3 XP_587636.3
rat (Rattus norvegicus)
Abca51
--
ATP-binding cassette, sub-family A (ABC1), member 5
86.22(n) 90.26(a)
286970 NM_173307.1 NP_775429.1
mouse (Mus musculus)
Abca51 , 5
115
ATP-binding cassette, sub-family A (ABC1), member 51, 5
86.4(n) 1 89.52(a) 1
217265 1 NM_147219.1 1 NP_671752.1 1 AB097675 5 AF491842 5 (see all 20 )
About this table Species with no ortholog for ABCA5 ENSEMBL Gene Tree for ABCA5 Paralogs for ABCA5 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ABCA5 gene ABCA10 2 ABCA9 2 ABCA6 2 ABCA8 2
SNPs/Variants for ABCA5 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ABCA5 (up to first 250kb)
Disorders & Mutations for ABCA5
(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 .)
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OMIM: 612503 Human Genome Epidemiology Navigator: ABCA5 (2 documents)
Medical News for ABCA5 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ABCA5 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/13 PubMed articles for ABCA5 gene (see all 13
):
Search for ABCA5
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ABCA5
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ABCA5
(According to HUGE )
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Specialized Databases showing ABCA5 (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
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-- Services for ABCA5 (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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