Human Gene ABCB9 (ENST00000280560.13) from GENCODE V44
Description: Homo sapiens ATP binding cassette subfamily B member 9 (ABCB9), transcript variant 1, mRNA. (from RefSeq NM_019625) RefSeq Summary (NM_019625): 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]. Gencode Transcript: ENST00000280560.13 Gencode Gene: ENSG00000150967.19 Transcript (Including UTRs) Position: hg38 chr12:122,928,992-122,966,463 Size: 37,472 Total Exon Count: 12 Strand: - Coding Region Position: hg38 chr12:122,929,911-122,960,235 Size: 30,325 Coding Exon Count: 11
ID:ABCB9_HUMAN DESCRIPTION: RecName: Full=ATP-binding cassette sub-family B member 9; AltName: Full=ATP-binding cassette transporter 9; Short=ABC transporter 9 protein; Short=hABCB9; AltName: Full=TAP-like protein; Short=TAPL; 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; SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Lysosome membrane; Multi-pass membrane protein. Note=May be located in membrane rafts. 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. INDUCTION: Not induced by interferon-gamma. 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. 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; WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9NP78";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NP78
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000166 nucleotide binding GO:0005515 protein binding GO:0005524 ATP binding GO:0015421 oligopeptide-transporting ATPase activity GO:0015440 peptide-transporting ATPase activity GO:0016887 ATPase activity GO:0022857 transmembrane transporter activity GO:0042626 ATPase activity, coupled to transmembrane movement of substances GO:0042803 protein homodimerization activity
Biological Process: GO:0015031 protein transport GO:0015833 peptide transport GO:0035672 oligopeptide transmembrane transport GO:0055085 transmembrane transport GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
AB112583 - Homo sapiens TAPL mRNA for TAP-Like isoform 12C, complete cds. AB112582 - Homo sapiens TAPL mRNA for TAP-Like isoform 12B, complete cds. AK074738 - Homo sapiens cDNA FLJ90257 fis, clone NT2RM4000444, weakly similar to ANTIGEN PEPTIDE TRANSPORTER 1. AB177852 - Homo sapiens mRNA for KIAA1520 splice variant 1. AF216494 - Homo sapiens ATP-binding cassette protein ABCB9 (ABCB9) mRNA, complete cds. AK304295 - Homo sapiens cDNA FLJ61550 complete cds, highly similar to Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 2, mRNA. BC064384 - Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9, mRNA (cDNA clone MGC:74955 IMAGE:5744451), complete cds. AB040953 - Homo sapiens KIAA1520 mRNA for KIAA1520 protein. AB045381 - Homo sapiens TAPL mRNA for TAPL, complete cds. AB385477 - Synthetic construct DNA, clone: pF1KA1520, Homo sapiens ABCB9 gene for ATP-binding cassette, sub-family B member 9, complete cds, without stop codon, in Flexi system. AL833963 - Homo sapiens mRNA; cDNA DKFZp547O175 (from clone DKFZp547O175). AK027624 - Homo sapiens cDNA FLJ14718 fis, clone NT2RP3001453, highly similar to Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 2, mRNA. BC017348 - Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9, mRNA (cDNA clone MGC:29663 IMAGE:5014247), complete cds. KJ902343 - Synthetic construct Homo sapiens clone ccsbBroadEn_11737 ABCB9 gene, encodes complete protein. U66676 - Homo sapiens clone EST122234 mRNA sequence. JD276614 - Sequence 257638 from Patent EP1572962. JD448776 - Sequence 429800 from Patent EP1572962. JD277489 - Sequence 258513 from Patent EP1572962. JD207342 - Sequence 188366 from Patent EP1572962. JD527819 - Sequence 508843 from Patent EP1572962. JD500029 - Sequence 481053 from Patent EP1572962. JD417284 - Sequence 398308 from Patent EP1572962. JD191499 - Sequence 172523 from Patent EP1572962. JD218861 - Sequence 199885 from Patent EP1572962. JD488349 - Sequence 469373 from Patent EP1572962. JD321445 - Sequence 302469 from Patent EP1572962. JD188978 - Sequence 170002 from Patent EP1572962. JD477130 - Sequence 458154 from Patent EP1572962. JD146185 - Sequence 127209 from Patent EP1572962. JD330011 - Sequence 311035 from Patent EP1572962. JD225216 - Sequence 206240 from Patent EP1572962. JD429588 - Sequence 410612 from Patent EP1572962. JD520226 - Sequence 501250 from Patent EP1572962. JD278973 - Sequence 259997 from Patent EP1572962. JD525537 - Sequence 506561 from Patent EP1572962. AK294225 - Homo sapiens cDNA FLJ57967 complete cds, highly similar to ATP-binding cassette sub-family B member 9 precursor. CU675954 - Synthetic construct Homo sapiens gateway clone IMAGE:100023399 5' read ABCB9 mRNA. JD380140 - Sequence 361164 from Patent EP1572962. JD390210 - Sequence 371234 from Patent EP1572962. JD541779 - Sequence 522803 from Patent EP1572962. JD389440 - Sequence 370464 from Patent EP1572962. JD138608 - Sequence 119632 from Patent EP1572962. JD194052 - Sequence 175076 from Patent EP1572962. JD409224 - Sequence 390248 from Patent EP1572962. JD195993 - Sequence 177017 from Patent EP1572962. JD140047 - Sequence 121071 from Patent EP1572962. JD404678 - Sequence 385702 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa02010 - ABC transporters hsa04142 - Lysosome
Reactome (by CSHL, EBI, and GO)
Protein Q9NP78 (Reactome details) participates in the following event(s):
R-HSA-5223317 ABCB9 transports peptides from cytosol to lysosomal lumen R-HSA-382556 ABC-family proteins mediated transport R-HSA-382551 Transport of small molecules
US Server
