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ABCA5 Gene

protein-coding   GIFtS: 54
GCID: GC17M067240

ATP-Binding Cassette, Sub-Family A (ABC1), Member 5

  See ABCA5-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP-Binding Cassette, Sub-Family A (ABC1), Member 51 2     ATP-Binding Cassette Sub-Family A Member 52
KIAA18883 5     EC 3.6.38
ABC132     EC 3.6.3.258
EST906252     EC 3.6.3.418
ATP-Binding Cassette A52     

External Ids:    HGNC: 351   Entrez Gene: 234612   Ensembl: ENSG000001542657   OMIM: 6125035   UniProtKB: Q8WWZ73   

Export aliases for ABCA5 gene to outside databases

Previous GC identifers: GC17M067042 GC17M070203 GC17M067707 GC17M067839 GC17M064754 GC17M062625


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABCA5 Gene:
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, but
neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in
several transcript variants; however, not all variants have been fully described. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABCA5 Gene:
ABCA5 (ATP-binding cassette, sub-family A (ABC1), member 5) is a protein-coding gene. Diseases associated with ABCA5 include gingival fibromatosis with hypertrichosis. GO annotations related to this gene include ATPase activity. An important paralog of this gene is ABCA1.

UniProtKB/Swiss-Prot: ABCA5_HUMAN, Q8WWZ7
Function: May play a role in the processing of autolysosomes (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the ABCA5 gene promoter:
         HOXA9B   HOXA9   PPAR-gamma1   PPAR-gamma2   Meis-1   Evi-1   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ABCA5 promoter sequence
   Search Chromatin IP Primers for ABCA5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCA5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24.3   Ensembl cytogenetic band:  17q24.3   HGNC cytogenetic band: 17q24.3

ABCA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCA5 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M067240:  view genomic region     (about GC identifiers)

Start:
67,240,452 bp from pter      End:
67,323,385 bp from pter
Size:
82,934 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
Developmental stage: Expressed in fetal liver, kidney and brain
Sequence caution: Sequence=BAB71700.1; Type=Erroneous initiation;
Secondary accessions: Q8IVJ2 Q96LJ1 Q96MS4 Q96PZ9 Q9NY14
Alternative splicing: 3 isoforms:  Q8WWZ7-1   Q8WWZ7-2   Q8WWZ7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ABCA5: NX_Q8WWZ7

Explore proteomics data for ABCA5 at MOPED

Post-translational modifications: 

  • N-glycosylated (By similarity)1
  • Glycosylation2 at Asn86, Asn458, Asn996
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ABCA5 (Q8WWZ7) (see all 6)
     LDEPTAG  NGAGKST  KILLLDE  GPNGAGKS 


    See ABCA5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_061142.2  NP_758424.1  

    ENSEMBL proteins: 
     ENSP00000376443   ENSP00000467882   ENSP00000465766   ENSP00000467251   ENSP00000465351  
     ENSP00000467448   ENSP00000466931   ENSP00000467524   ENSP00000467815   ENSP00000466662  
     ENSP00000467672   ENSP00000376444  

    ABCA5 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCA5

     
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    antibodies-online peptides for ABCA5

    ABCA5 Antibody Products:

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    antibodies-online antibodies for ABCA5 (30 products) 

    ABCA5 Assay Products:

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    antibodies-online kits for ABCA5 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ABCA: ATP binding cassette transporters / subfamily A

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCA5
    ABCA subfamily

    5 InterPro protein domains:
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase
     IPR026082 ABC_A
     IPR017871 ABC_transporter_CS

    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 superfamily. ABCA family
    Similarity: Contains 2 ABC transporter domains


    Find genes that share domains with ABCA5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Enzyme Numbers (IUBMB): EC 3.6.3.412 EC 3.6.32 EC 3.6.3.252

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003924GTPase activity ----
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding ----
    GO:0016887ATPase activity IEA--
         
    Find genes that share ontologies with ABCA5           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abca5):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle  vision/eye 

    Find genes that share phenotypes with ABCA5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Abca5tm1Akya for ABCA5

       genOway: Develop your customized and physiologically relevant rodent model for ABCA5

    miRNA
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    miRTarBase miRNAs that target ABCA5:
    hsa-mir-335-5p (MIRT017298)

    Block miRNA regulation of human, mouse, rat ABCA5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABCA5 (see all 22):
    hsa-miR-548j hsa-miR-548i hsa-miR-4263 hsa-miR-944 hsa-miR-3908 hsa-miR-205* hsa-miR-548d-5p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidABCA5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ABCA5
    Predesigned siRNA for gene silencing in human, mouse, rat ABCA5

    Gene Editing
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    OriGene ORF clones in mouse, rat for ABCA5
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    GenScript: all cDNA clones in your preferred vector (see all 2): ABCA5 (NM_018672)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCA5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCA5

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ABCA5 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ABCA5_HUMAN, Q8WWZ7: Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane
    protein. Golgi apparatus membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    golgi apparatus5
    lysosome5
    vacuole5
    plasma membrane3

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005764lysosome ISS15870284
    GO:0005765lysosomal membrane IEA--
    GO:0005770late endosome ISS15870284
    GO:0005794Golgi apparatus ----

    Find genes that share ontologies with ABCA5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABCA5 About    
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC transporters0.69


    Find genes that share SuperPaths with ABCA5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for ABCA5):
        ABC transporters

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCA5: 
              Drug Transporters in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ABCA5

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010745negative regulation of macrophage derived foam cell differentiation ISS--
    GO:0033344cholesterol efflux ISS--
    GO:0034375high-density lipoprotein particle remodeling ISS--
    GO:0043691reverse cholesterol transport IC--

    Find genes that share ontologies with ABCA5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ABCA5

    1 DrugBank Compound for ABCA5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    TacrolimusFK-506 (see all 3)104987-11-3transportersubstrate18827354



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ABCA5 gene (2 alternative transcripts): 
    NM_018672.4  NM_172232.3  

    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392676(uc002jif.2) ENST00000588877 ENST00000591234 ENST00000586995
    ENST00000586601 ENST00000586811 ENST00000588106 ENST00000593153 ENST00000589975
    ENST00000593253 ENST00000587607 ENST00000592568 ENST00000588665 ENST00000589609
    ENST00000392677(uc002jib.2 uc002jic.2 uc002jid.2 uc002jie.2 uc002jig.2 uc002jih.2 uc010dfe.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat ABCA5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABCA5 (see all 22):
    hsa-miR-548j hsa-miR-548i hsa-miR-4263 hsa-miR-944 hsa-miR-3908 hsa-miR-205* hsa-miR-548d-5p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidABCA5 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ABCA5
    Predesigned siRNA for gene silencing in human, mouse, rat ABCA5
    Clone
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    OriGene clones in human, mouse for ABCA5 (see all 11)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ABCA5 (NM_018672)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCA5
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ABCA5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCA5
      QuantiTect SYBR Green Assays in human, mouse, rat ABCA5
      QuantiFast Probe-based Assays in human, mouse, rat ABCA5

    Selected AceView cDNA sequences (see all 208):

    CA941702 CD629440 BI492210 BX415090 CA773849 AI032927 AY028897 BG288838 
    BU625990 AW139910 AI698175 BG566938 AI942287 NM_018672 AJ275973 AI350336 
    BQ000362 AW189609 CD629438 BX280304 BQ441353 BU686259 BC029426 AL698749 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA5    About this scheme

    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:                                                                                                                  


    ECgene alternative splicing isoforms for ABCA5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ABCA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATAGGCA
    ABCA5 Expression
    About this image


    ABCA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    ABCA5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCA5 Protein Expression

    UniProtKB/Swiss-Prot: ABCA5_HUMAN, Q8WWZ7
    Tissue specificity: Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and
    placenta

        Pathway & Disease-focused RT2 Profiler PCR Array including ABCA5: 
              Drug Transporters in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABCA5
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    QuantiFast Probe-based Assays in human, mouse, rat ABCA5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ABCA5 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abca51 , 5 ATP-binding cassette, sub-family A (ABC1), member 51, 5 86.58(n)1
    90.07(a)1
      11 (73.53 cM)5
    2172651  NM_147219.21  NP_671752.21 
     1102693695 
    chicken
    (Gallus gallus)
    Aves ABCA51 ATP-binding cassette, sub-family A (ABC1), member 5 68.38(n)
    72.02(a)
      417444  XM_004946238.1  XP_004946295.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    71(a)
    64(a)
    1 ↔ many
    1 ↔ many
    GL343630.1(253683-315074)
    GL343630.1(154465-233666)
    African clawed frog
    (Xenopus laevis)
    Amphibia AW159034.12   -- 73.91(n)    AW159034.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abca51 ATP-binding cassette, sub-family A (ABC1), member 5 57.49(n)
    53.09(a)
      100151075  NM_001099246.2  NP_001092716.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG99906
    --
    17(a)
    many ↔ many
    3R(24501077-24521661)
    worm
    (Caenorhabditis elegans)
    Secernentea abt-56
    Protein ABT-5 (abt-5) mRNA, complete cds
    21(a)
    many ↔ many
    I(12011276-12018668) WBGene00000023


    ENSEMBL Gene Tree for ABCA5 (if available)
    TreeFam Gene Tree for ABCA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCA5 gene
    ABCA12  ABCA102  ABCA132  ABCA32  ABCA82  ABCA122  ABCA42  ABCA72  
    ABCA22  ABCA92  ABCA62  
    14 SIMAP similar genes for ABCA5 using alignment to 9 protein entries:     ABCA5_HUMAN (see all proteins):
    DKFZp686K07118    ABC2    ABCA13    ABCG2    ABCA10    DKFZp686F2450
    ABCA6    ABCA2    ABCA8    ABCA9    DKFZp547P193    ABCA11P
    ABCA4    DKFZp434E1030

    Find genes that share paralogs with ABCA5           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ABCA5
    PGOHUM00000250826


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ABCA5 (see all 1815)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1925476851,2
    --67243046(+) TTCACA/GTACCT 2 -- ut310--------
    rs1830011041,2
    --67243093(+) GCTCAC/TTTCAC 2 -- ut310--------
    rs1416096151,2
    --67243126(+) CCTAGA/TGGATA 2 -- ut310--------
    rs1885595851,2
    --67243131(+) TGGATA/GTAACT 2 -- ut310--------
    rs1928669221,2
    --67243190(+) TTACGA/GATGAC 2 -- ut310--------
    rs158861,2
    C,F,H--67243289(+) TTATGA/TATTAG 2 -- ut31 ese329Minor allele frequency- N:0.00MN EA NA NS WA 3946
    rs1849050561,2
    --67243319(+) CATTAC/TGTACT 2 -- ut310--------
    rs1898971151,2
    --67243390(+) TCCTTC/TAAATC 2 -- ut310--------
    rs1165851421,2
    C--67243424(+) GAATGA/GTGAAA 2 -- ut310--------
    rs1922027811,2
    --67243451(+) TATATA/GGTTCA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ABCA5 (67240452 - 67323385 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ABCA5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908706CNV Loss21882294
    nsv457890CNV Loss19166990
    esv275054CNV Loss21479260
    nsv833527CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCA5
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCA5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612503    OMIM disorders: --

    1 disease for ABCA5:    
    About MalaCards
    gingival fibromatosis with hypertrichosis


    Find genes that share disorders with ABCA5           About GenesLikeMe

    Genetic Association Database (GAD): ABCA5
    Human Genome Epidemiology (HuGE) Navigator: ABCA5 (5 documents)

    Export disorders for ABCA5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABCA5 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with ABCA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    2. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    3. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)
    4. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (Environ. Mol. Mutagen. 2009)
    5. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)1, 4 Hosgood H.D....Lan Q. (Carcinogenesis 2008)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant. (PubMed id 12504089)1, 2 Petry F.... Hirsch-Ernst K.I. (Biochem. Biophys. Res. Commun. 2003)
    8. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)
    9. Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. (PubMed id 8894702)1, 3 Allikmets R....Dean M. (Hum. Mol. Genet. 1996)
    10. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 JAoger S....Krogan N.J. (Nature 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 23461 HGNC: 35 AceView: ABCA5andABCA10 Ensembl:ENSG00000154265 euGenes: HUgn23461
    ECgene: ABCA5 Kegg: 23461 H-InvDB: ABCA5

    (According to HUGE)
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    HUGE: KIAA1888

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABCA5 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q8WWZ7

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCA5 gene:
    Search GeneIP for patents involving ABCA5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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