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Aliases for ABCB9 Gene

Aliases for ABCB9 Gene

  • ATP Binding Cassette Subfamily B Member 9 2 3 5
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 9 2 3
  • ABC Transporter 9 Protein 3 4
  • TAP-Like Protein 3 4
  • TAPL 3 4
  • ATP-Binding Cassette Sub-Family B Member 9 3
  • ATP-Binding Cassette Transporter 9 4
  • EC 3.6.3.44 61
  • EST122234 3
  • KIAA1520 4
  • EC 3.6.3 61
  • HABCB9 4

External Ids for ABCB9 Gene

Previous GeneCards Identifiers for ABCB9 Gene

  • GC12M122118
  • GC12M123114
  • GC12M123221
  • GC12M121851
  • GC12M121938
  • GC12M123413
  • GC12M120375

Summaries for ABCB9 Gene

Entrez Gene Summary for ABCB9 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 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]

GeneCards Summary for ABCB9 Gene

ABCB9 (ATP Binding Cassette Subfamily B Member 9) is a Protein Coding gene. Diseases associated with ABCB9 include Leukemia, Acute Myeloid. Among its related pathways are Lysosome and Regulation of activated PAK-2p34 by proteasome mediated degradation. GO annotations related to this gene include protein homodimerization activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is TAP2.

UniProtKB/Swiss-Prot for ABCB9 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCB9 Gene

Genomics for ABCB9 Gene

Regulatory Elements for ABCB9 Gene

Enhancers for ABCB9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F123139 1.7 FANTOM5 Ensembl ENCODE 11.2 -160.3 -160308 5.3 ARID4B FEZF1 DMAP1 YY1 SLC30A9 GLIS2 FOS SP3 PPARG KAT8 CDK2AP1 VPS37B ENSG00000256092 ENSG00000256028 OGFOD2 ABCB9 ARL6IP4 MPHOSPH9 HIP1R C12orf65
GH12F122879 1.5 FANTOM5 ENCODE 11.6 +99.1 99091 6.1 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 EIF2B1 VPS37B ZCCHC8 RPL27P12 IL31 LOC100506691 TMED2 MLXIP C12orf65 OGFOD2
GH12F122951 1.3 Ensembl ENCODE 13.2 +29.8 29767 1.4 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 OGFOD2 ABCB9 VPS37B HCAR1
GH12F123033 1.3 Ensembl ENCODE 12.5 -53.6 -53578 4.3 PKNOX1 ATF1 MLX ARID4B SIN3A ZNF48 GATA2 FOS SP5 ZHX2 CDK2AP1 MPHOSPH9 ABCB9 OGFOD2 PITPNM2 C12orf65 GC12P123016 LOC100507091
GH12F123056 1.1 Ensembl ENCODE 11.3 -74.6 -74552 0.4 ESRRA SAP130 JUN ZMYM3 ARID4B UBTF CEBPG RAD21 ZNF48 NFE2 PITPNM2 ABCB9 ARL6IP4 ENSG00000256028 OGFOD2 LOC100507091 GC12P123016
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCB9 on UCSC Golden Path with GeneCards custom track

Promoters for ABCB9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000438616 749 1801 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 ETS1 GLIS2 ELK1

Genomic Location for ABCB9 Gene

Chromosome:
12
Start:
122,918,708 bp from pter
End:
122,981,649 bp from pter
Size:
62,942 bases
Orientation:
Minus strand

Genomic View for ABCB9 Gene

Genes around ABCB9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCB9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCB9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCB9 Gene

Proteins for ABCB9 Gene

  • Protein details for ABCB9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP78-ABCB9_HUMAN
    Recommended name:
    ATP-binding cassette sub-family B member 9
    Protein Accession:
    Q9NP78
    Secondary Accessions:
    • B4E2J0
    • Q5W9G7
    • Q769F3
    • Q769F4
    • Q96AB1
    • Q9P208

    Protein attributes for ABCB9 Gene

    Size:
    766 amino acids
    Molecular mass:
    84475 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAA96044.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAD66830.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCB9 Gene

neXtProt entry for ABCB9 Gene

Selected DME Specific Peptides for ABCB9 Gene

Q9NP78:
  • GTHQQLL
  • QLSGGQKQR
  • LSGGQKQRV
  • VSQEPVLF

Post-translational modifications for ABCB9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cloud-Clone Corp. Antibodies for ABCB9

Domains & Families for ABCB9 Gene

Gene Families for ABCB9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NP78

UniProtKB/Swiss-Prot:

ABCB9_HUMAN :
  • The N-terminal region comprising the first four transmembrane domains is required for lysosomal localization but not for homodimerization or peptide transport.
  • Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily.
Domain:
  • The N-terminal region comprising the first four transmembrane domains is required for lysosomal localization but not for homodimerization or peptide transport.
  • Contains 1 ABC transmembrane type-1 domain.
  • Contains 1 ABC transporter domain.
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily.
genes like me logo Genes that share domains with ABCB9: view

Function for ABCB9 Gene

Molecular function for ABCB9 Gene

GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 9
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=6.8 uM for peptide RRYQNSTCL {ECO:0000269 PubMed:15863492}; pH dependence: Optimum pH is 7.0. {ECO:0000269 PubMed:15863492}; Temperature dependence: Optimum temperature is 37 degrees Celsius. {ECO:0000269 PubMed:15863492};
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Not induced by interferon-gamma.

Enzyme Numbers (IUBMB) for ABCB9 Gene

Gene Ontology (GO) - Molecular Function for ABCB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22641697
GO:0005524 ATP binding IDA 15863492
GO:0015421 oligopeptide-transporting ATPase activity TAS --
GO:0015440 peptide-transporting ATPase activity IDA 17977821
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with ABCB9: view
genes like me logo Genes that share phenotypes with ABCB9: view

Animal Models for ABCB9 Gene

MGI Knock Outs for ABCB9:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCB9

miRNA for ABCB9 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABCB9 Gene

Localization for ABCB9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCB9 Gene

Lysosome membrane; Multi-pass membrane protein. Note=May be located in membrane rafts.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCB9 gene
Compartment Confidence
endoplasmic reticulum 5
lysosome 5
plasma membrane 4

Gene Ontology (GO) - Cellular Components for ABCB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 22641697
GO:0005765 lysosomal membrane TAS --
GO:0005769 NOT early endosome IDA 17977821
GO:0005783 NOT endoplasmic reticulum IDA 17977821
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ABCB9: view

Pathways & Interactions for ABCB9 Gene

genes like me logo Genes that share pathways with ABCB9: view

Pathways by source for ABCB9 Gene

2 KEGG pathways for ABCB9 Gene

Interacting Proteins for ABCB9 Gene

Gene Ontology (GO) - Biological Process for ABCB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 NOT antigen processing and presentation of peptide antigen via MHC class I IDA 17977821
GO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent IBA --
GO:0002485 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent IBA --
GO:0002489 antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent IBA --
GO:0002591 positive regulation of antigen processing and presentation of peptide antigen via MHC class I IBA --
genes like me logo Genes that share ontologies with ABCB9: view

No data available for SIGNOR curated interactions for ABCB9 Gene

Drugs & Compounds for ABCB9 Gene

(1) Drugs for ABCB9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ABCB9: view

Transcripts for ABCB9 Gene

Unigene Clusters for ABCB9 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 9:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCB9 Gene

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: -
SP6: - - -
SP7: -
SP8: - -

Relevant External Links for ABCB9 Gene

GeneLoc Exon Structure for
ABCB9
ECgene alternative splicing isoforms for
ABCB9

Expression for ABCB9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABCB9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABCB9 Gene

This gene is overexpressed in Synovial fluid (55.2) and Lung (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ABCB9 Gene



NURSA nuclear receptor signaling pathways regulating expression of ABCB9 Gene:

ABCB9

SOURCE GeneReport for Unigene cluster for ABCB9 Gene:

Hs.511951

mRNA Expression by UniProt/SwissProt for ABCB9 Gene:

Q9NP78-ABCB9_HUMAN
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.
genes like me logo Genes that share expression patterns with ABCB9: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ABCB9 Gene

Orthologs for ABCB9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCB9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCB9 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia VPS37B 35
  • 93 (a)
OneToOne
ABCB9 34
  • 90.12 (n)
cow
(Bos Taurus)
Mammalia ABCB9 34 35
  • 90.36 (n)
rat
(Rattus norvegicus)
Mammalia Abcb9 34
  • 89.46 (n)
mouse
(Mus musculus)
Mammalia Abcb9 34 16 35
  • 89.06 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCB9 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB9 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCB9 34 35
  • 76.06 (n)
lizard
(Anolis carolinensis)
Reptilia ABCB9 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb9 34
  • 62.36 (n)
zebrafish
(Danio rerio)
Actinopterygii abcb9 34 35
  • 59.58 (n)
Dr.19520 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11832 34
fruit fly
(Drosophila melanogaster)
Insecta CG10226 36
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea haf-4 34 35
  • 50.25 (n)
haf-2 35
  • 37 (a)
ManyToMany
haf-9 35
  • 37 (a)
ManyToMany
haf-8 35
  • 35 (a)
ManyToMany
haf-3 35
  • 30 (a)
ManyToMany
haf-7 35
  • 30 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDL1 35
  • 28 (a)
ManyToMany
MDL2 35
  • 27 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os.11762 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
ManyToMany
CSA.2338 35
  • 41 (a)
ManyToMany
Species where no ortholog for ABCB9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCB9 Gene

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

Paralogs for ABCB9 Gene

Variants for ABCB9 Gene

Sequence variations from dbSNP and Humsavar for ABCB9 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10219462 -- 122,953,800(+) tacag(A/G)tgtga intron-variant, upstream-variant-2KB
rs10734978 -- 122,968,487(+) AACTA(C/T)TAGCA intron-variant, upstream-variant-2KB
rs10848076 -- 122,931,801(+) ACCAC(A/G)CCTGG intron-variant, downstream-variant-500B
rs10848078 -- 122,932,641(+) GGAGC(A/G)AGCCC intron-variant
rs10848106 -- 122,948,590(+) CAGGG(C/T)GCACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCB9 Gene

Variant ID Type Subtype PubMed ID
nsv560492 CNV loss 21841781
nsv560491 CNV loss 21841781
nsv517200 CNV loss 19592680
nsv455732 CNV loss 19166990
dgv22n68 CNV loss 17160897

Variation tolerance for ABCB9 Gene

Residual Variation Intolerance Score: 7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.54; 44.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCB9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCB9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCB9 Gene

Disorders for ABCB9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABCB9 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
- elite association - COSMIC cancer census association via MalaCards
Search ABCB9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ABCB9

Genetic Association Database (GAD)
ABCB9
Human Genome Epidemiology (HuGE) Navigator
ABCB9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCB9
genes like me logo Genes that share disorders with ABCB9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCB9 Gene

Publications for ABCB9 Gene

  1. Biochemical characterization of transporter associated with antigen processing (TAP)-like (ABCB9) expressed in insect cells. (PMID: 18175933) Ohara T. … Maeda M. (Biol. Pharm. Bull. 2008) 3 4 22 64
  2. Peptide specificity and lipid activation of the lysosomal transport complex ABCB9 (TAPL). (PMID: 18434309) Zhao C. … Abele R. (J. Biol. Chem. 2008) 3 4 22 64
  3. Functional dissection of transmembrane domains of human TAP-like (ABCB9). (PMID: 18952056) Kamakura A. … Maeda M. (Biochem. Biophys. Res. Commun. 2008) 3 4 22 64
  4. Selective and ATP-dependent translocation of peptides by the homodimeric ATP binding cassette transporter TAP-like (ABCB9). (PMID: 15863492) Wolters J.C. … Tampe R. (J. Biol. Chem. 2005) 3 4 22 64
  5. Membrane localization of transporter associated with antigen processing (TAP)-like (ABCB9) visualized in vivo with a fluorescence protein-fusion technique. (PMID: 15577206) Kobayashi A. … Maeda M. (Biol. Pharm. Bull. 2004) 3 4 22 64

Products for ABCB9 Gene

Sources for ABCB9 Gene

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