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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABCB9 Gene

protein-coding   GIFtS: 59
GCID: GC12M123413

ATP-binding cassette, sub-family B (MDR/TAP), member 9
 Explore 4 diseases affiliated with
ABCB9 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ABCB9    

Aliases
for ABCB9 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 91 2     KIAA15203
EST1222341 2     ATP-Binding Cassette Transporter 93
TAPL2 3     HABCB91
ABC Transporter 9 Protein2 3     EC 3.6.38
TAP-Like Protein2 3     EC 3.6.3.448
ATP-Binding Cassette Sub-Family B Member 92     

External Ids:    HGNC: 501   Entrez Gene: 234572   Ensembl: ENSG000001509677   OMIM: 6054535   UniProtKB: Q9NP783   
ORGUL members:         
NONCODE:n380573    

Export aliases for ABCB9 gene to outside databases

Previous GC identifers: GC12M122118 GC12M123114 GC12M123221 GC12M121851 GC12M121938 GC12M120375


Summaries
for ABCB9 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ABCB9:
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 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
MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen
presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen.
Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate
specificities. (provided by RefSeq, Jul 2011)

UniProtKB/Swiss-Prot: ABCB9_HUMAN, Q9NP78
Function: ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the
cytosol to the lysosomal lumen. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides
with an optimum of 23-mers. Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal
positions whereas negatively charged residues as well as asparagine and methionine are not favored

Gene Wiki entry for ABCB9


Genomic Views
for ABCB9 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009755.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABCB9 gene promoter:
         Sp1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ABCB9 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCB9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCB9


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

Entrez Gene cytogenetic band: 12q24   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24

ABCB9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCB9 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M123413:  view genomic region     (about GC identifiers)

Start:
 123,405,498 bp from pter      End:
 123,466,196 bp from pter
Size:
 60,699 bases      Orientation:
 minus strand

Proteins
for ABCB9 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ABCB9_HUMAN, Q9NP78 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family B member 9  
Size: 766 amino acids; 84475 Da
Subunit: Homodimer
Subcellular location: Lysosome membrane; Multi-pass membrane protein. Note=May be located in membrane rafts
Caution: Has also been detected in the endoplasmic reticulum (PubMed:11011155) but appears to be a lysosomal protein in
vivo
Sequence caution: Sequence=BAA96044.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAD66830.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B4E2J0 Q5W9G7 Q769F3 Q769F4 Q96AB1 Q9P208
Alternative splicing: 6 isoforms:  Q9NP78-1   Q9NP78-2   Q9NP78-3   Q9NP78-5   Q9NP78-6   Q9NP78-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ABCB9: NX_Q9NP78

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NP78

    • 4 DME Specific Peptides for ABCB9 (Q9NP78)
     GTHQQLL  VSQEPVLF  LSGGQKQRV  QLSGGQKQR 

    ABCB9 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001229942.1  NP_001229943.1  NP_062570.1  NP_062571.1  NP_982269.2  

    ENSEMBL proteins: 
     ENSP00000456813   ENSP00000456375   ENSP00000280560   ENSP00000441734   ENSP00000376234  
     ENSP00000440288   ENSP00000440471   ENSP00000442281   ENSP00000415967   ENSP00000439871  
     ENSP00000440244   ENSP00000444834   ENSP00000441086   ENSP00000443433   ENSP00000443224  
     ENSP00000440138   ENSP00000443382   ENSP00000280559   ENSP00000394898  

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    Novus Biologicals ABCB9 Protein
    Novus Biologicals ABCB9 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ABCB9

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743NOT mitochondrial inner membrane IRD--
    GO:0005765lysosomal membrane IDA17977821
    GO:0005769NOT early endosome IDA17977821
    GO:0005783NOT endoplasmic reticulum IDA17977821
    GO:0005886plasma membrane IBA--


    ABCB9 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ABCB9

    Protein Domains /
    Families
    for ABCB9 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ABCB9 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR003439 ABC_transporter-like
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR017940 ABC_transporter_type1
     IPR011527 ABC_transptrTM_dom_typ1

    Graphical View of Domain Structure for InterPro Entry Q9NP78

    ProtoNet protein and cluster: Q9NP78

    UniProtKB/Swiss-Prot: ABCB9_HUMAN, Q9NP78
    Domain: The N-terminal region comprising the first four transmembrane domains is required for lysosomal localization
    but not for homodimerization or peptide transport
    Similarity: Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily
    Similarity: Contains 1 ABC transmembrane type-1 domain
    Similarity: Contains 1 ABC transporter domain


    Function
    for ABCB9 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ABCB9_HUMAN, Q9NP78
    Function: ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the
    cytosol to the lysosomal lumen. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides
    with an optimum of 23-mers. Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal
    positions whereas negatively charged residues as well as asparagine and methionine are not favored
    Biophysicochemical properties: Kinetic parameters: KM=6.8 uM for peptide RRYQNSTCL; pH dependence: Optimum pH is 7.0;
    Temperature dependence: Optimum temperature is 37 degrees Celsius;
    Induction: Not induced by interferon-gamma

         Genatlas biochemistry entry for ABCB9:
    ATP binding cassette superfamily,subfamily B (MDR/TAP),member 9

    Enzyme Numbers (IUBMB): EC 3.6.3.442 EC 3.6.32

    miRNA
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    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCB9 (see all 24):
    hsa-miR-3194-5p hsa-miR-892b hsa-let-7d hsa-miR-513a-5p hsa-miR-128 hsa-let-7c hsa-let-7g hsa-miR-483-3p
    SwitchGear 3'UTR luciferase reporter plasmid: ABCB9 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCB9 (see all 7)
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IDA15863492
    GO:0015421oligopeptide-transporting ATPase activity IBA--
    GO:0015440peptide-transporting ATPase activity IDA17977821
    GO:0022891substrate-specific transmembrane transporter activity IDA18434309
    GO:0042288MHC class I protein binding IBA--


    ABCB9 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for ABCB9:
     Increased cell death HMECs cel  Increased cell death in breast  Increased number of cells in m 


    Pathways & Interactions
    for ABCB9 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lysosome
    		Lysosome1.00
    2ABC-family proteins mediated transport
    		ABC transporters0.70

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    2         Kegg Pathways  (Kegg details for ABCB9):
        ABC transporters
    Lysosome


    ABCB9 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCB9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for ABCB9 (ENSP000002805604) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALRENSP000003208664STRING: ENSP00000320866
    TAP1ENSP000003462064STRING: ENSP00000346206
    TAP2ENSP000003640344STRING: ENSP00000364034
    UBCENSP000003448184STRING: ENSP00000344818
    --ENSP000004109714STRING: ENSP00000410971
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001916positive regulation of T cell mediated cytotoxicity IBA--
    GO:0002474NOT antigen processing and presentation of peptide antigen via MHC class I IDA17977821
    GO:0015031protein transport IEA--
    GO:0015833peptide transport IDA17977821
    GO:0055085transmembrane transport IBA--


    ABCB9 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ABCB9 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABCB9 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABCB9
    1 Novoseek chemical compound relationship for ABCB9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 43.1 9 18175933 (2), 15863492 (2), 15577206 (1), 16710701 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about ABCB9 

    Transcripts
    for ABCB9 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ABCB9 gene (6 alternative transcripts): 
    NM_001243013.1  NM_001243014.1  NM_019624.3  NM_019625.3  NM_203444.3  NM_203445.1  

    Unigene Cluster for ABCB9:

    ATP-binding cassette, sub-family B (MDR/TAP), member 9
    Hs.511951  [show with all ESTs]
    Unigene Representative Sequence: BC064384
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000344275(uc021rfo.1) ENST00000442833(uc021rfp.1) ENST00000280560(uc010tai.2 uc001udm.4)
    ENST00000540285(uc010taj.2) ENST00000392439(uc021rfq.1) ENST00000542678
    ENST00000539502 ENST00000546289 ENST00000426173 ENST00000537276(uc001udq.3)
    ENST00000542448 ENST00000538895(uc001udr.3) ENST00000541983 ENST00000545373
    ENST00000540971 ENST00000536976 ENST00000546077 ENST00000541424

    miRNA
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    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCB9 (see all 24):
    hsa-miR-3194-5p hsa-miR-892b hsa-let-7d hsa-miR-513a-5p hsa-miR-128 hsa-let-7c hsa-let-7g hsa-miR-483-3p
    SwitchGear 3'UTR luciferase reporter plasmid: ABCB9 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABCB9 (see all 7)
    OriGene shRNA RFP: ABCB9
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    Clone
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    Additional cDNA sequence: 

    AB045381.2 AB112582.1 AB112583.1 AB177852.1 AF216494.1 AK074738.1 AK294225.1 AK304295.1 
    BC017348.2 BC064384.1 U66676.1 

    13 DOTS entries:

    DT.445295  DT.121179283  DT.102835395  DT.101982399  DT.100784195  DT.101982398  DT.100784197  DT.95368329 
    DT.97839873  DT.100766524  DT.97839872  DT.97860694  DT.99931925 

    24/67 AceView cDNA sequences (see all 67):

    AI425047 NM_019624 BM795184 NM_203444 BM821437 CB149401 BX279993 BM672327 
    CB134746 NM_203445 F06569 AL833963 NM_019625 AK074738 CR592700 CA503047 
    BC064384 AB112582 AB112583 AK027624 BE504895 BQ637312 CR614075 BM740793 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ABCB9 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17a · 17b
    SP1:                                      -                       -     -                 -     -                                   -                           
    SP2:                                      -                       -     -                 -     -                                                               
    SP3:                                                              -     -                                                                                       
    SP4:                                                                                                              -                 -                           
    SP5:                                                                                            -                                                               


    ECgene alternative splicing isoforms for ABCB9

    Expression
    for ABCB9 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABCB9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See ABCB9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCB9

    SOURCE GeneReport for Unigene cluster: Hs.511951

    UniProtKB/Swiss-Prot: ABCB9_HUMAN, Q9NP78
    Tissue specificity: Highly expressed in testis, and at moderate levels in brain, spinal cord, and thyroid. Not
    expressed in monocytes but strongly expressed during differentiation of monocytes to dendritic cells and macrophages

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    In Situ
    Assay Products:     
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    Orthologs
    for ABCB9 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCB9 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Abcb91 , 5 ATP-binding cassette, sub-family B (MDR/TAP), member more1, 5 89.06(n)1
    94.23(a)1    		   5 (63.36 cM)5
    563251  NM_019875.21  NP_063928.21 
     1240615305 
    chicken
    (Gallus gallus)    		 Aves ABCB91 ATP-binding cassette, sub-family B (MDR/TAP), member more 76.15(n)
    77.08(a)    		   416834  XM_415125.2  XP_415125.2 
    lizard
    (Anolis carolinensis)    		 Reptilia ABCB96
    		 --
    		 73(a)
    		 1 ↔ 1
    		 LGb(2041090-2051813)
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.195202 Transcribed sequence with weak similarity to protein more 74.62(n)    CF549967.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea haf-46
    haf-96
    (see all 5)    		 HAlF transporter (PGP related) family member (haf-...
    HAlF transporter (PGP related) family member (haf-...
    (see all 5)    		 39(a)
    37(a)
    (see all 5)    		 many → 1
    many → 1
    (see all 5)    		 I(489987-496157)
    I(6081800-6085964)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATTAP16
    		 ABC transporter B family member 26
    		 32(a)
    		 1 → many
    		 1(26621961-26626503)
    rice
    (Oryza sativa)    		 Liliopsida Os.117622 Oryza sativa (japonica cultivar-group) cDNA clone0 more 76.69(n)    AK119880.1 


    ENSEMBL Gene Tree for ABCB9 (if available)
    TreeFam Gene Tree for ABCB9 (if available) 

    Paralogs
    for ABCB9 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCB9 gene
    TAP22  ENSG000002502642  ABCB102  TAP12  ABCB82  
    17 SIMAP similar genes for ABCB9 using alignment to 13 protein entries:     ABCB9_HUMAN (see all proteins):
    DKFZp547O175    ABCB4    TAP1    NG-TRA    TAP2-G    ABCB11
    TAP2    ABCB1    MDR1    ABCB10    ABCB5    ABC-transporter
    ABCB3    ABCB8    ABCC1    ABCC10    DKFZp434I2115

    ABCB9 for paralogs           About GeneDecksing



    Genomic Variants
    for ABCB9 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/618 NCBI SNPs in ABCB9 are shown (see all 618)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs787265711,2
    		--123405180(+) GGCATA/CGTGGC 1 -- ds50010--------
    rs1405304861,2
    		--123405209(+) TACTTC/TGGGAG 1 -- ds50010--------
    rs572587031,2
    		C,F,--123405233(+) GATCAG/CTTGAG 1 -- ds50012Minor allele frequency- C:0.50WA 4
    rs1808755911,2
    		--123405397(+) AGATGA/TTGCAG 1 -- ds50010--------
    rs575044291,2
    		C,--123405461(+) AAAAA-/ATCACA 1 -- ds50010--------
    rs1859600761,2
    		--123405506(+) GCACTA/GAAAAT 1 -- ut310--------
    rs1385216821,2
    		--123405742(+) GGATCA/GCTTGA 1 -- int10--------
    rs1912965931,2
    		--123405936(+) CAGGCG/TAGGCA 1 -- int10--------
    rs1813531191,2
    		--123406239(+) GAATCA/GCTTGA 1 -- int10--------
    rs1858222361,2
    		--123406352(+) GAATTA/CACCTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for ABCB9 (123405498 - 123466196 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ABCB9
         3 CNVs: 48972 4790 48973

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for ABCB9 gene

    (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.)
    About This Section
    ABCB9 for disorders           About GeneDecksing

    OMIM gene information: 605453    OMIM disorders: --

    4 diseases for ABCB9:    About MalaCards
    pneumonia    tuberculosis    thyroiditis    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: ABCB9 (1 document)

    Export disorders for ABCB9 gene to outside databases

    Publications
    for ABCB9 gene

    (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)
    About This Section

    PubMed articles for ABCB9 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with ABCB9)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene organization of human transporter associated with antigen processing-like (TAPL, ABCB9): analysis of alternative splicing variants and promoter activity. (PubMed id 13679046)1, 2, 9 Kobayashi A.... Maeda M. (2003)
    2. Membrane localization of transporter associated with antigen processing (TAP)-like (ABCB9) visualized in vivo with a fluorescence protein-fusion technique. (PubMed id 15577206)1, 2, 9 Kobayashi A....Maeda M. (2004)
    3. Peptide specificity and lipid activation of the lysosomal transport complex ABCB9 (TAPL). (PubMed id 18434309)1, 2, 9 Zhao C....Abele R. (2008)
    4. Characterization of ABCB9, an ATP binding cassette protein associated with lysosomes. (PubMed id 10748049)1, 2, 9 Zhang F.... Ling V. (2000)
    5. Selective and ATP-dependent translocation of peptides by the homodimeric ATP binding cassette transporter TAP-like (ABCB9). (PubMed id 15863492)1, 2, 9 Wolters J.C....Tampe R. (2005)
    6. Biochemical characterization of transporter associated with antigen processing (TAP)-like (ABCB9) expressed in insect cells. (PubMed id 18175933)1, 2, 9 Ohara T....Maeda M. (2008)
    7. Functional dissection of transmembrane domains of human TAP-like (ABCB9). (PubMed id 18952056)1, 2, 9 Kamakura A....Maeda M. (2008)
    8. Transporter associated with antigen processing-like ( ABCB9) stably expressed in Chinese hamster ovary-K1 cells is sorted to the micr odomains of lysosomal membranes. (PubMed id 21212514)1, 2 Fujimoto Y....Maeda M. (2011)
    9. Tuning the cellular trafficking of the lysosomal pept ide transporter TAPL by its N-terminal domain. (PubMed id 20377823)1, 2 Demirel O....Abele R. (2010)
    10. Identification of a lysosomal peptide transport system induced during dendritic cell development. (PubMed id 17977821)1, 2 Demirel O....Abele R. (2007)

    External Searches for ABCB9 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ABCB9 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23457 HGNC: 50 AceView: ABCB9 Ensembl:ENSG00000150967 euGenes: HUgn23457
    ECgene: ABCB9 Kegg: 23457 H-InvDB: ABCB9

    Other Databases showing ABCB9 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1520

    Specialized Databases showing ABCB9 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABCB9 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9NP78

    Intellectual Property
    for ABCB9 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ABCB9 gene:
    Search GeneIP for patents involving ABCB9

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



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