Free for academic non-profit institutions. Other users need a Commercial license

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
  • EST122234 3
  • KIAA1520 4
  • 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. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (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

Additional gene information for ABCB9 Gene

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

Genomics for ABCB9 Gene

GeneHancer (GH) Regulatory Elements for ABCB9 Gene

Promoters and enhancers for ABCB9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J122978 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 650.7 -2.0 -1955 9.7 HDGF HNRNPUL1 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ABCB9 ARL6IP4 EIF2B1 ZCCHC8 RSRC2 CDK2AP1 DDX55 KNTC1 MPHOSPH9 ATP6V0A2
GH12J122965 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.4 +15.3 15308 1.9 PKNOX1 ARID4B SIN3A ZNF2 YY1 GLIS2 ZNF548 KLF13 ZNF263 SP3 ABCB9 DDX55 RSRC2 EIF2B1 ZCCHC8 ATP6V0A2 CDK2AP1 LOC101927415 KNTC1 MPHOSPH9
GH12J122265 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18.8 +715.3 715286 2.6 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ENSG00000256861 VPS33A RSRC2 ZCCHC8 C12orf65 ANAPC5 ENSG00000272849 ENSG00000235423 SETD1B KNTC1
GH12J123104 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 15.1 -125.6 -125608 5.1 PKNOX1 GLIS2 ELK1 ATF7 RXRA MEF2D GLIS1 ETV4 HNF4A SP7 PITPNM2 CDK2AP1 MPHOSPH9 ABCB9 C12orf65 LOC101927415 EIF2B1 ENSG00000280381 GC12P123128
GH12J123600 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.7 -620.5 -620497 2.6 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 DDX55 LOC101927415 EIF2B1 C12orf65 ATP6V0A2 OGFOD2 TCTN2 SBNO1 RPL27P12 DNAH10OS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCB9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCB9 gene promoter:

Genomic Locations for ABCB9 Gene

Genomic Locations for ABCB9 Gene
chr12:122,918,708-122,981,649
(GRCh38/hg38)
Size:
62,942 bases
Orientation:
Minus strand
chr12:123,405,498-123,466,196
(GRCh37/hg19)

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

Post-translational modifications for ABCB9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ABCB9 Gene

Domains & Families for ABCB9 Gene

Gene Families for ABCB9 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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.
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

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 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 Induction:
Not induced by interferon-gamma.
GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily B (MDR/TAP),member 9

Phenotypes From GWAS Catalog 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:
  • Abcb9 Abcb9<tm1b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCB9

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB9

Clone Products

  • Addgene plasmids for ABCB9

No data available for Enzyme Numbers (IUBMB) , 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABCB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA,IEA 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

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:0015031 protein transport IEA --
GO:0015833 peptide transport IDA 17977821
GO:0035672 oligopeptide transmembrane transport IEA --
GO:0055085 transmembrane transport TAS --
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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCB9

Clone Products

  • Addgene plasmids for ABCB9

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 CGAP 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 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.

Evidence on tissue expression from TISSUES for ABCB9 Gene

  • Nervous system(4.8)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with ABCB9: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia VPS37B 34
  • 93 (a)
OneToOne
ABCB9 33
  • 90.12 (n)
cow
(Bos Taurus)
Mammalia ABCB9 34 33
  • 90.36 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcb9 33
  • 89.46 (n)
mouse
(Mus musculus)
Mammalia Abcb9 16 34 33
  • 89.06 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCB9 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCB9 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCB9 34 33
  • 76.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCB9 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcb9 33
  • 62.36 (n)
zebrafish
(Danio rerio)
Actinopterygii abcb9 34 33
  • 59.58 (n)
OneToOne
Dr.19520 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11832 33
fruit fly
(Drosophila melanogaster)
Insecta CG10226 35
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea haf-4 34 33
  • 50.25 (n)
ManyToMany
haf-2 34
  • 37 (a)
ManyToMany
haf-9 34
  • 37 (a)
ManyToMany
haf-8 34
  • 35 (a)
ManyToMany
haf-7 34
  • 30 (a)
ManyToMany
haf-3 34
  • 30 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDL1 34
  • 28 (a)
ManyToMany
MDL2 34
  • 27 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os.11762 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
ManyToMany
CSA.2338 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ABCB9: view image

Paralogs for ABCB9 Gene

Paralogs for ABCB9 Gene

(16) SIMAP similar genes for ABCB9 Gene using alignment to 12 proteins:

  • ABCB9_HUMAN
  • F5GX86_HUMAN
  • F5GXZ5_HUMAN
  • F5GYI2_HUMAN
  • F5H0G0_HUMAN
  • F5H4Y2_HUMAN
  • F5H5F9_HUMAN
  • F5H5I5_HUMAN
  • F5H5Q0_HUMAN
  • F5H7U2_HUMAN
  • H7C478_HUMAN
  • Q6P2Q0_HUMAN
genes like me logo Genes that share paralogs with ABCB9: view

Variants for ABCB9 Gene

Sequence variations from dbSNP and Humsavar for ABCB9 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000013581 -- 122,926,237(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000034599 -- 122,968,939(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000209610 -- 122,925,228(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000240748 -- 122,924,833(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000277722 -- 122,955,200(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

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

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)

Additional Variant Information for ABCB9 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ABCB9 Gene

Additional Disease Information for ABCB9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ABCB9 Gene.

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

Publications for ABCB9 Gene

  1. Peptide specificity and lipid activation of the lysosomal transport complex ABCB9 (TAPL). (PMID: 18434309) Zhao C … Abele R (The Journal of biological chemistry 2008) 3 4 22 58
  2. Biochemical characterization of transporter associated with antigen processing (TAP)-like (ABCB9) expressed in insect cells. (PMID: 18175933) Ohara T … Maeda M (Biological & pharmaceutical bulletin 2008) 3 4 22 58
  3. Functional dissection of transmembrane domains of human TAP-like (ABCB9). (PMID: 18952056) Kamakura A … Maeda M (Biochemical and biophysical research communications 2008) 3 4 22 58
  4. Selective and ATP-dependent translocation of peptides by the homodimeric ATP binding cassette transporter TAP-like (ABCB9). (PMID: 15863492) Wolters JC … Tampé R (The Journal of biological chemistry 2005) 3 4 22 58
  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 (Biological & pharmaceutical bulletin 2004) 3 4 22 58

Products for ABCB9 Gene

Sources for ABCB9 Gene

Content
Loading form....