ABCB9 Gene (Protein Coding)

ATP Binding Cassette Subfamily B Member 9

GC12M122920
GIFtS:
41
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 ... See more...

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
  • ATP-Binding Cassette Sub-Family B Member 9 3 4
  • ABC Transporter 9 Protein 3 4
  • TAP-Like Protein 3 4
  • EST122234 2 3
  • TAPL 3 4
  • ATP-Binding Cassette Transporter 9 4
  • EC 3.6.3.44 51
  • KIAA1520 4
  • EC 3.6.3 51
  • HABCB9 4
  • ABCB9 5

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 Bile Acid Synthesis Defect, Congenital, 5 and Abcd Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Lysosome. 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 Summary 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 , Rfam classification and piRNA Summary for ABCB9 Gene

Genomics for ABCB9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ABCB9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABCB9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCB9

Top Transcription factor binding sites by QIAGEN in the ABCB9 gene promoter:
  • NF-kappaB1
  • Sp1

Genomic Locations for ABCB9 Gene

Latest Assembly
chr12:122,917,324-122,981,649
(GRCh38/hg38)
Size:
64,326 bases
Orientation:
Minus strand

Previous Assembly
chr12:123,405,495-123,451,010
(GRCh37/hg19 by Entrez Gene)
Size:
45,516 bases
Orientation:
Minus strand

chr12:123,405,498-123,466,196
(GRCh37/hg19 by Ensembl)
Size:
60,699 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 Structure • Gene Density

RefSeq DNA sequence for ABCB9 Gene

Proteins for ABCB9 Gene

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  • 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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAD66830.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ABCB9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCB9 Gene

Protein Expression for ABCB9 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Other Protein References for ABCB9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ABCB9 Gene

Gene Families for ABCB9 Gene

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

Protein Domains for ABCB9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABCB9 Gene

GenScript: Design optimal peptide antigens:
  • TAP-like protein (ABCB9_HUMAN)
  • cDNA FLJ61550, highly similar to Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 2, mRNA (B4E2J0_HUMAN)
  • KIAA1520 splice variant 1 (Q5W9G7_HUMAN)
  • TAP-Like isoform 12C (Q769F3_HUMAN)
  • TAP-Like isoform 12B (Q769F4_HUMAN)

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

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

Enzyme Numbers (IUBMB) for ABCB9 Gene

Phenotypes From GWAS Catalog for ABCB9 Gene

Gene Ontology (GO) - Molecular Function for ABCB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 22641697
GO:0005524 ATP binding IEA,IDA 15863492
GO:0015433 peptide antigen-transporting ATPase activity IBA 21873635
GO:0015440 peptide-transporting ATPase activity IEA,IDA 17977821
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 Models for research

  • Taconic Biosciences Mouse Models for ABCB9

Inhibitory RNAs for research

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

Clone products for research

  • Addgene plasmids for ABCB9

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
lysosome 5
endoplasmic reticulum 4
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
See all subcellular structures

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 IEA,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 IEA,IDA 17977821
GO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I IBA 21873635
GO:0055085 transmembrane transport IEA,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

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(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

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mRNA/cDNA for ABCB9 Gene

6 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Clone products for research

  • 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

Expression for ABCB9 Gene

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

mRNA expression in normal human tissues for ABCB9 Gene
mRNA expression by BioGPS for ABCB9 GenemRNA expression by GTEx 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.9)
  • Blood(4.3)
  • Skin(2.2)
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 30 31
  • 99.48 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia VPS37B 31
  • 93 (a)
 OneToOne
ABCB9 30
  • 90.12 (n)
Cow
(Bos Taurus)
 Mammalia ABCB9 30 31
  • 90.36 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Abcb9 30
  • 89.46 (n)
Mouse
(Mus musculus)
 Mammalia Abcb9 30 17 31
  • 89.06 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ABCB9 31
  • 87 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ABCB9 31
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ABCB9 30 31
  • 76.06 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ABCB9 31
  • 73 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia abcb9 30
  • 62.36 (n)
Zebrafish
(Danio rerio)
 Actinopterygii abcb9 30 31
  • 59.58 (n)
 OneToOne
Dr.19520 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11832 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG10226 32
  • 54 (a)
Worm
(Caenorhabditis elegans)
 Secernentea haf-4 30 31
  • 50.25 (n)
 ManyToMany
haf-2 31
  • 37 (a)
 ManyToMany
haf-9 31
  • 37 (a)
 ManyToMany
haf-8 31
  • 35 (a)
 ManyToMany
haf-7 31
  • 30 (a)
 ManyToMany
haf-3 31
  • 30 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MDL1 31
  • 28 (a)
 ManyToMany
MDL2 31
  • 27 (a)
 ManyToMany
Rice
(Oryza sativa)
 Liliopsida Os.11762 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 42 (a)
 ManyToMany
CSA.2338 31
  • 41 (a)
 ManyToMany
Species where no ortholog for ABCB9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCB9 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs3803002 - p.Val121Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ABCB9 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for ABCB9 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ABCB9 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search ABCB9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABCB9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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. 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 23
  2. Functional dissection of transmembrane domains of human TAP-like (ABCB9). (PMID: 18952056) Kamakura A … Maeda M (Biochemical and biophysical research communications 2008) 3 4 23
  3. 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 23
  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 23
  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 23

ExternalLinks

View latest publications for ABCB9 gene in Mastermind

Products for ABCB9 Gene

  • Addgene plasmids for ABCB9

Sources for ABCB9 Gene