Q9NP78 (ABCB9_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 125.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: ATP-binding cassette sub-family B member 9 Alternative name(s): ATP-binding cassette transporter 9 Short name=ABC transporter 9 protein Short name=hABCB9 TAP-like protein Short name=TAPL | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 766 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.11 Ref.12 Ref.16 |
| Subunit structure | Homodimer. Ref.11 |
| Subcellular location | Lysosome membrane; Multi-pass membrane protein. Note: May be located in membrane rafts. Ref.2 Ref.10 Ref.12 Ref.13 Ref.14 Ref.15 Ref.17 Ref.18 |
| 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. Ref.2 Ref.12 |
| Induction | Not induced by interferon-gamma. Ref.1 |
| Domain | The N-terminal region comprising the first four transmembrane domains is required for lysosomal localization but not for homodimerization or peptide transport. Ref.10 Ref.15 Ref.17 |
| Sequence similarities | Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily. [View classification] Contains 1 ABC transmembrane type-1 domain. Contains 1 ABC transporter domain. |
| Caution | Has also been detected in the endoplasmic reticulum (Ref.1) but appears to be a lysosomal protein in vivo. |
| Biophysicochemical properties | Kinetic parameters: KM=6.8 µM for peptide RRYQNSTCL Ref.11 pH dependence: Optimum pH is 7.0. Temperature dependence: Optimum temperature is 37 degrees Celsius. |
| Sequence caution | The sequence BAA96044.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAD66830.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9NP78-1) Also known as: 12A; c1-l; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9NP78-2) Also known as: c1-s; The sequence of this isoform differs from the canonical sequence as follows: 418-460: Missing. | ||||||
| Isoform 3 (identifier: Q9NP78-3) The sequence of this isoform differs from the canonical sequence as follows: 582-596: ISLVSQEPVLFARSI → VCARAWATLLRPFCI 597-766: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q9NP78-5) Also known as: 12B; The sequence of this isoform differs from the canonical sequence as follows: 681-683: IQQ → CAG 684-766: Missing. | ||||||
| Isoform 5 (identifier: Q9NP78-6) Also known as: 12C; The sequence of this isoform differs from the canonical sequence as follows: 682-766: Missing. | ||||||
| Isoform 6 (identifier: Q9NP78-7) The sequence of this isoform differs from the canonical sequence as follows: 461-523: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 766 | 766 | ATP-binding cassette sub-family B member 9 | PRO_0000000252 | |||||
Regions | |||||||||
| Transmembrane | 7 – 27 | 21 | Helical; Potential | ||||||
| Transmembrane | 47 – 67 | 21 | Helical; Potential | ||||||
| Transmembrane | 84 – 104 | 21 | Helical; Potential | ||||||
| Transmembrane | 116 – 136 | 21 | Helical; Potential | ||||||
| Transmembrane | 185 – 205 | 21 | Helical; Potential | ||||||
| Transmembrane | 225 – 245 | 21 | Helical; Potential | ||||||
| Transmembrane | 319 – 339 | 21 | Helical; Potential | ||||||
| Transmembrane | 416 – 436 | 21 | Helical; Potential | ||||||
| Domain | 188 – 471 | 284 | ABC transmembrane type-1 | ||||||
| Domain | 504 – 740 | 237 | ABC transporter | ||||||
| Nucleotide binding | 539 – 546 | 8 | ATP Potential | ||||||
| Compositional bias | 384 – 389 | 6 | Poly-Glu | ||||||
Natural variations | |||||||||
| Alternative sequence | 418 – 460 | 43 | Missing in isoform 2. | VSP_000027 | |||||
| Alternative sequence | 461 – 523 | 63 | Missing in isoform 6. | VSP_044884 | |||||
| Alternative sequence | 582 – 596 | 15 | ISLVS…FARSI → VCARAWATLLRPFCI in isoform 3. | VSP_000029 | |||||
| Alternative sequence | 597 – 766 | 170 | Missing in isoform 3. | VSP_000030 | |||||
| Alternative sequence | 681 – 683 | 3 | IQQ → CAG in isoform 4. | VSP_041884 | |||||
| Alternative sequence | 682 – 766 | 85 | Missing in isoform 5. | VSP_041885 | |||||
| Alternative sequence | 684 – 766 | 83 | Missing in isoform 4. | VSP_041886 | |||||
| Natural variant | 121 | 1 | V → M. Ref.19 Corresponds to variant rs3803002 [ dbSNP | Ensembl ]. | VAR_013701 | |||||
Experimental info | |||||||||
| Mutagenesis | 136 – 137 | 2 | LL → AA: No effect on lysosomal localization. Ref.17 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A half-type ABC transporter TAPL is highly conserved between rodent and man, and the human gene is not responsive to interferon-gamma in contrast to TAP1 and TAP2." Kobayashi A., Kasano M., Maeda T., Hori S., Motojima K., Suzuki M., Fujiwara T., Takahashi E., Yabe T., Tanaka K., Kasahara M., Yamaguchi Y., Maeda M. J. Biochem. 128:711-718(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INDUCTION. Tissue: Embryonic kidney. |
| [2] | "Characterization of ABCB9, an ATP binding cassette protein associated with lysosomes." Zhang F., Zhang W., Liu L., Fisher C.L., Hui D., Childs S., Dorovini-Zis K., Ling V. J. Biol. Chem. 275:23287-23294(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Lymphoblast. |
| [3] | "Gene organization of human transporter associated with antigen processing-like (TAPL, ABCB9): analysis of alternative splicing variants and promoter activity." Kobayashi A., Hori S., Suita N., Maeda M. Biochem. Biophys. Res. Commun. 309:815-822(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5). Tissue: Cervix carcinoma and Embryonic kidney. |
| [4] | "Alternative splice variants encoding unstable protein domains exist in the human brain." Homma K., Kikuno R.F., Nagase T., Ohara O., Nishikawa K. J. Mol. Biol. 343:1207-1220(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain. |
| [5] | "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [6] | Ohara O., Nagase T., Kikuno R. Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [7] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Trachea. |
| [8] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [9] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [10] | "Membrane localization of transporter associated with antigen processing (TAP)-like (ABCB9) visualized in vivo with a fluorescence protein-fusion technique." Kobayashi A., Maeda T., Maeda M. Biol. Pharm. Bull. 27:1916-1922(2004) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, DOMAIN. |
| [11] | "Selective and ATP-dependent translocation of peptides by the homodimeric ATP binding cassette transporter TAP-like (ABCB9)." Wolters J.C., Abele R., Tampe R. J. Biol. Chem. 280:23631-23636(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, SUBUNIT. |
| [12] | "Identification of a lysosomal peptide transport system induced during dendritic cell development." Demirel O., Waibler Z., Kalinke U., Grunebach F., Appel S., Brossart P., Hasilik A., Tampe R., Abele R. J. Biol. Chem. 282:37836-37843(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [13] | "Integral and associated lysosomal membrane proteins." Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H., Elsaesser H.-P., Mann M., Hasilik A. Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Placenta. |
| [14] | "Functional dissection of transmembrane domains of human TAP-like (ABCB9)." Kamakura A., Fujimoto Y., Motohashi Y., Ohashi K., Ohashi-Kobayashi A., Maeda M. Biochem. Biophys. Res. Commun. 377:847-851(2008) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [15] | "Biochemical characterization of transporter associated with antigen processing (TAP)-like (ABCB9) expressed in insect cells." Ohara T., Ohashi-Kobayashi A., Maeda M. Biol. Pharm. Bull. 31:1-5(2008) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, DOMAIN. |
| [16] | "Peptide specificity and lipid activation of the lysosomal transport complex ABCB9 (TAPL)." Zhao C., Haase W., Tampe R., Abele R. J. Biol. Chem. 283:17083-17091(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [17] | "Tuning the cellular trafficking of the lysosomal peptide transporter TAPL by its N-terminal domain." Demirel O., Bangert I., Tampe R., Abele R. Traffic 11:383-393(2010) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, DOMAIN, MUTAGENESIS OF 136-LYS-LYS-137. |
| [18] | "Transporter associated with antigen processing-like (ABCB9) stably expressed in Chinese hamster ovary-K1 cells is sorted to the microdomains of lysosomal membranes." Fujimoto Y., Kamakura A., Motohashi Y., Ohashi-Kobayashi A., Maeda M. Biol. Pharm. Bull. 34:36-40(2011) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [19] | "Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population." Saito S., Iida A., Sekine A., Miura Y., Ogawa C., Kawauchi S., Higuchi S., Nakamura Y. J. Hum. Genet. 47:38-50(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MET-121. |
Web resources
| ABCMdb Database for mutations in ABC proteins |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB045381 mRNA. Translation: BAA97989.2. AF216494 mRNA. Translation: AAF89993.1. AB112582 mRNA. Translation: BAC98409.1. AB112583 mRNA. Translation: BAC98410.1. AB177852 mRNA. Translation: BAD66830.1. Different initiation. AB040953 mRNA. Translation: BAA96044.2. Different initiation. AK304295 mRNA. Translation: BAG65152.1. AC026362 Genomic DNA. No translation available. AC027290 Genomic DNA. No translation available. BC017348 mRNA. Translation: AAH17348.1. |
| IPI | IPI00216589. IPI00418359. IPI01010415. IPI01014873. |
| RefSeq | NP_001229942.1. NM_001243013.1. NP_001229943.1. NM_001243014.1. NP_062570.1. NM_019624.3. NP_062571.1. NM_019625.3. NP_982269.2. NM_203444.3. |
| UniGene | Hs.511951. |
3D structure databases | |
| ProteinModelPortal | Q9NP78. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000280560. |
PTM databases | |
| PhosphoSite | Q9NP78. |
Polymorphism databases | |
| DMDM | 22095458. |
Proteomic databases | |
| PaxDb | Q9NP78. |
| PRIDE | Q9NP78. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000280560; ENSP00000280560; ENSG00000150967. ENST00000344275; ENSP00000456813; ENSG00000150967. ENST00000346530; ENSP00000280559; ENSG00000150967. ENST00000392439; ENSP00000376234; ENSG00000150967. ENST00000442833; ENSP00000456375; ENSG00000150967. ENST00000540285; ENSP00000441734; ENSG00000150967. ENST00000542678; ENSP00000440288; ENSG00000150967. |
| GeneID | 23457. |
| KEGG | hsa:23457. |
| UCSC | uc001udm.4. human. uc001udo.4. human. uc001udr.3. human. |
Organism-specific databases | |
| CTD | 23457. |
| GeneCards | GC12M123413. |
| HGNC | HGNC:50. ABCB9. |
| HPA | HPA035114. |
| MIM | 605453. gene. |
| neXtProt | NX_Q9NP78. |
| PharmGKB | PA24391. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1132. |
| HOVERGEN | HBG008358. |
| InParanoid | Q9NP78. |
| KO | K05656. |
| OrthoDB | EOG4VT5X2. |
| PhylomeDB | Q9NP78. |
Enzyme and pathway databases | |
| BRENDA | 3.6.3.43. 2681. |
Gene expression databases | |
| ArrayExpress | Q9NP78. |
| Bgee | Q9NP78. |
| CleanEx | HS_ABCB9. |
| Genevestigator | Q9NP78. |
| GermOnline | ENSG00000150967. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR003593. AAA+_ATPase. IPR003439. ABC_transporter-like. IPR017871. ABC_transporter_CS. IPR017940. ABC_transporter_type1. IPR001140. ABC_transptr_TM_dom. IPR011527. ABC_transptrTM_dom_typ1. [Graphical view] |
| Pfam | PF00664. ABC_membrane. 1 hit. PF00005. ABC_tran. 1 hit. [Graphical view] |
| SMART | SM00382. AAA. 1 hit. [Graphical view] |
| SUPFAM | SSF90123. ABC_TM_1. 1 hit. |
| PROSITE | PS50929. ABC_TM1F. 1 hit. PS00211. ABC_TRANSPORTER_1. 1 hit. PS50893. ABC_TRANSPORTER_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChEMBL | CHEMBL1293189. |
| GenomeRNAi | 23457. |
| NextBio | 45751. |
| SOURCE | Search... |
Entry information
| Entry name | ABCB9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NP78 Secondary accession number(s): B4E2J0 Q9P208 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
