UniProtKB - Q9NP78 (ABCB9_HUMAN)
Protein
ATP-binding cassette sub-family B member 9
Gene
ABCB9
Organism
Homo sapiens (Human)
Status
Functioni
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.3 Publications
Caution
Has also been detected in the endoplasmic reticulum but appears to be a lysosomal protein in vivo.1 Publication
Kineticsi
- KM=6.8 µM for peptide RRYQNSTCL1 Publication
pH dependencei
Optimum pH is 7.0.1 Publication
Temperature dependencei
Optimum temperature is 37 degrees Celsius.1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 539 – 546 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATPase activity Source: InterPro
- ATPase-coupled peptide antigen transmembrane transporter activity Source: GO_Central
- ATPase-coupled peptide transmembrane transporter activity Source: UniProtKB
- ATPase-coupled transmembrane transporter activity Source: GO_Central
- ATP binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- TAP1 binding Source: GO_Central
- transmembrane transporter activity Source: UniProtKB
GO - Biological processi
- antigen processing and presentation of endogenous peptide antigen via MHC class I Source: GO_Central
- peptide transport Source: UniProtKB
- protein transport Source: UniProtKB-KW
- transmembrane transport Source: GO_Central
Keywordsi
Biological process | Peptide transport, Protein transport, Transport |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 3.6.3.43, 2681 |
PathwayCommonsi | Q9NP78 |
Reactomei | R-HSA-382556, ABC-family proteins mediated transport |
SABIO-RKi | Q9NP78 |
Protein family/group databases
TCDBi | 3.A.1.209.2, the atp-binding cassette (abc) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: ATP-binding cassette sub-family B member 9Alternative name(s): ATP-binding cassette transporter 9 Short name: ABC transporter 9 protein Short name: hABCB9 TAP-like protein Short name: TAPL |
Gene namesi | Name:ABCB9 Synonyms:KIAA1520 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:50, ABCB9 |
MIMi | 605453, gene |
neXtProti | NX_Q9NP78 |
VEuPathDBi | HostDB:ENSG00000150967.17 |
Subcellular locationi
Lysosome
- Lysosome membrane 8 Publications; Multi-pass membrane protein PROSITE-ProRule annotation8 Publications
Note: May be located in membrane rafts.
Endoplasmic reticulum
- integral component of endoplasmic reticulum membrane Source: UniProtKB
- MHC class I peptide loading complex Source: GO_Central
Lysosome
- lysosomal membrane Source: UniProtKB
- lysosome Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB
- intracellular membrane-bounded organelle Source: HPA
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 7 – 27 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Transmembranei | 47 – 67 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Transmembranei | 84 – 104 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Transmembranei | 116 – 136 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Transmembranei | 185 – 205 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Transmembranei | 225 – 245 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Transmembranei | 319 – 339 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Transmembranei | 416 – 436 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 |
Keywords - Cellular componenti
Lysosome, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 136 – 137 | LL → AA: No effect on lysosomal localization. 1 Publication | 2 |
Organism-specific databases
DisGeNETi | 23457 |
OpenTargetsi | ENSG00000150967 |
PharmGKBi | PA24391 |
Miscellaneous databases
Pharosi | Q9NP78, Tbio |
Chemistry databases
ChEMBLi | CHEMBL1293189 |
Genetic variation databases
BioMutai | ABCB9 |
DMDMi | 22095458 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000000252 | 1 – 766 | ATP-binding cassette sub-family B member 9Add BLAST | 766 |
Proteomic databases
MassIVEi | Q9NP78 |
PaxDbi | Q9NP78 |
PeptideAtlasi | Q9NP78 |
PRIDEi | Q9NP78 |
ProteomicsDBi | 5823 81917 [Q9NP78-1] 81918 [Q9NP78-2] 81919 [Q9NP78-3] 81920 [Q9NP78-5] 81921 [Q9NP78-6] |
PTM databases
iPTMneti | Q9NP78 |
PhosphoSitePlusi | Q9NP78 |
Expressioni
Tissue specificityi
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.2 Publications
Inductioni
Not induced by interferon-gamma.1 Publication
Gene expression databases
Bgeei | ENSG00000150967, Expressed in right hemisphere of cerebellum and 221 other tissues |
ExpressionAtlasi | Q9NP78, baseline and differential |
Genevisiblei | Q9NP78, HS |
Organism-specific databases
HPAi | ENSG00000150967, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer.
1 PublicationGO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
- TAP1 binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 117021, 20 interactors |
IntActi | Q9NP78, 9 interactors |
STRINGi | 9606.ENSP00000440288 |
Miscellaneous databases
RNActi | Q9NP78, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 188 – 471 | ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST | 284 | |
Domaini | 504 – 740 | ABC transporterPROSITE-ProRule annotationAdd BLAST | 237 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 384 – 389 | Poly-Glu | 6 |
Domaini
The N-terminal region comprising the first four transmembrane domains is required for lysosomal localization but not for homodimerization or peptide transport.3 Publications
Sequence similaritiesi
Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily. [View classification]Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0058, Eukaryota |
GeneTreei | ENSGT00940000155431 |
InParanoidi | Q9NP78 |
PhylomeDBi | Q9NP78 |
TreeFami | TF105197 |
Family and domain databases
Gene3Di | 1.20.1560.10, 1 hit |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR011527, ABC1_TM_dom IPR036640, ABC1_TM_sf IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR030254, ABCB9 IPR027417, P-loop_NTPase IPR039421, Type_I_exporter |
PANTHERi | PTHR24221, PTHR24221, 1 hit PTHR24221:SF242, PTHR24221:SF242, 1 hit |
Pfami | View protein in Pfam PF00664, ABC_membrane, 1 hit PF00005, ABC_tran, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit SSF90123, SSF90123, 1 hit |
PROSITEi | View protein in PROSITE PS50929, ABC_TM1F, 1 hit PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9NP78-1) [UniParc]FASTAAdd to basket
Also known as: 12A, c1-l
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MRLWKAVVVT LAFMSVDICV TTAIYVFSHL DRSLLEDIRH FNIFDSVLDL
60 70 80 90 100
WAACLYRSCL LLGATIGVAK NSALGPRRLR ASWLVITLVC LFVGIYAMVK
110 120 130 140 150
LLLFSEVRRP IRDPWFWALF VWTYISLGAS FLLWWLLSTV RPGTQALEPG
160 170 180 190 200
AATEAEGFPG SGRPPPEQAS GATLQKLLSY TKPDVAFLVA ASFFLIVAAL
210 220 230 240 250
GETFLPYYTG RAIDGIVIQK SMDQFSTAVV IVCLLAIGSS FAAGIRGGIF
260 270 280 290 300
TLIFARLNIR LRNCLFRSLV SQETSFFDEN RTGDLISRLT SDTTMVSDLV
310 320 330 340 350
SQNINVFLRN TVKVTGVVVF MFSLSWQLSL VTFMGFPIIM MVSNIYGKYY
360 370 380 390 400
KRLSKEVQNA LARASNTAEE TISAMKTVRS FANEEEEAEV YLRKLQQVYK
410 420 430 440 450
LNRKEAAAYM YYVWGSGLTL LVVQVSILYY GGHLVISGQM TSGNLIAFII
460 470 480 490 500
YEFVLGDCME SVGSVYSGLM QGVGAAEKVF EFIDRQPTMV HDGSLAPDHL
510 520 530 540 550
EGRVDFENVT FTYRTRPHTQ VLQNVSFSLS PGKVTALVGP SGSGKSSCVN
560 570 580 590 600
ILENFYPLEG GRVLLDGKPI SAYDHKYLHR VISLVSQEPV LFARSITDNI
610 620 630 640 650
SYGLPTVPFE MVVEAAQKAN AHGFIMELQD GYSTETGEKG AQLSGGQKQR
660 670 680 690 700
VAMARALVRN PPVLILDEAT SALDAESEYL IQQAIHGNLQ KHTVLIIAHR
710 720 730 740 750
LSTVEHAHLI VVLDKGRVVQ QGTHQQLLAQ GGLYAKLVQR QMLGLQPAAD
760
FTAGHNEPVA NGSHKA
Computationally mapped potential isoform sequencesi
There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ6P2Q0 | Q6P2Q0_HUMAN | ABCB9 protein | ABCB9 | 769 | Annotation score: | ||
F5H5F9 | F5H5F9_HUMAN | ATP-binding cassette sub-family B m... | ABCB9 | 222 | Annotation score: | ||
F5H5Q0 | F5H5Q0_HUMAN | ATP-binding cassette sub-family B m... | ABCB9 | 115 | Annotation score: | ||
F5GX86 | F5GX86_HUMAN | ATP-binding cassette sub-family B m... | ABCB9 | 182 | Annotation score: | ||
F5H7U2 | F5H7U2_HUMAN | ATP-binding cassette sub-family B m... | ABCB9 | 277 | Annotation score: | ||
F5GYI2 | F5GYI2_HUMAN | ATP-binding cassette sub-family B m... | ABCB9 | 260 | Annotation score: | ||
F5GXZ5 | F5GXZ5_HUMAN | ATP-binding cassette sub-family B m... | ABCB9 | 145 | Annotation score: | ||
F5H0G0 | F5H0G0_HUMAN | ATP-binding cassette sub-family B m... | ABCB9 | 272 | Annotation score: | ||
H7C478 | H7C478_HUMAN | ATP-binding cassette sub-family B m... | ABCB9 | 145 | Annotation score: | ||
F5H4Y2 | F5H4Y2_HUMAN | ATP-binding cassette sub-family B m... | ABCB9 | 156 | Annotation score: | ||
There is more potential isoformShow all |
Sequence cautioni
The sequence BAA96044 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAD66830 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013701 | 121 | V → M1 PublicationCorresponds to variant dbSNP:rs3803002Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000027 | 418 – 460 | Missing in isoform 2. 1 PublicationAdd BLAST | 43 | |
Alternative sequenceiVSP_044884 | 461 – 523 | Missing in isoform 6. CuratedAdd BLAST | 63 | |
Alternative sequenceiVSP_000029 | 582 – 596 | ISLVS…FARSI → VCARAWATLLRPFCI in isoform 3. 1 PublicationAdd BLAST | 15 | |
Alternative sequenceiVSP_000030 | 597 – 766 | Missing in isoform 3. 1 PublicationAdd BLAST | 170 | |
Alternative sequenceiVSP_041884 | 681 – 683 | IQQ → CAG in isoform 4. 1 Publication | 3 | |
Alternative sequenceiVSP_041885 | 682 – 766 | Missing in isoform 5. 1 PublicationAdd BLAST | 85 | |
Alternative sequenceiVSP_041886 | 684 – 766 | Missing in isoform 4. 1 PublicationAdd BLAST | 83 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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 |
CCDSi | CCDS58286.1 [Q9NP78-7] CCDS58287.1 [Q9NP78-6] CCDS58288.1 [Q9NP78-5] CCDS9241.1 [Q9NP78-1] |
RefSeqi | NP_001229942.1, NM_001243013.1 [Q9NP78-7] NP_001229943.1, NM_001243014.1 [Q9NP78-6] NP_062570.1, NM_019624.3 [Q9NP78-2] NP_062571.1, NM_019625.3 [Q9NP78-1] NP_982269.2, NM_203444.3 [Q9NP78-5] XP_011536397.1, XM_011538095.2 [Q9NP78-1] XP_011536398.1, XM_011538096.2 [Q9NP78-1] XP_016874592.1, XM_017019103.1 [Q9NP78-1] |
Genome annotation databases
Ensembli | ENST00000280560; ENSP00000280560; ENSG00000150967 [Q9NP78-1] ENST00000344275; ENSP00000456813; ENSG00000150967 [Q9NP78-6] ENST00000346530; ENSP00000280559; ENSG00000150967 [Q9NP78-2] ENST00000392439; ENSP00000376234; ENSG00000150967 [Q9NP78-1] ENST00000442833; ENSP00000456375; ENSG00000150967 [Q9NP78-5] ENST00000540285; ENSP00000441734; ENSG00000150967 [Q9NP78-7] ENST00000542678; ENSP00000440288; ENSG00000150967 [Q9NP78-1] |
GeneIDi | 23457 |
KEGGi | hsa:23457 |
UCSCi | uc001udm.5, human [Q9NP78-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
ABCMdb Database for mutations in ABC proteins |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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 |
CCDSi | CCDS58286.1 [Q9NP78-7] CCDS58287.1 [Q9NP78-6] CCDS58288.1 [Q9NP78-5] CCDS9241.1 [Q9NP78-1] |
RefSeqi | NP_001229942.1, NM_001243013.1 [Q9NP78-7] NP_001229943.1, NM_001243014.1 [Q9NP78-6] NP_062570.1, NM_019624.3 [Q9NP78-2] NP_062571.1, NM_019625.3 [Q9NP78-1] NP_982269.2, NM_203444.3 [Q9NP78-5] XP_011536397.1, XM_011538095.2 [Q9NP78-1] XP_011536398.1, XM_011538096.2 [Q9NP78-1] XP_016874592.1, XM_017019103.1 [Q9NP78-1] |
3D structure databases
SMRi | Q9NP78 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 117021, 20 interactors |
IntActi | Q9NP78, 9 interactors |
STRINGi | 9606.ENSP00000440288 |
Chemistry databases
ChEMBLi | CHEMBL1293189 |
Protein family/group databases
TCDBi | 3.A.1.209.2, the atp-binding cassette (abc) superfamily |
PTM databases
iPTMneti | Q9NP78 |
PhosphoSitePlusi | Q9NP78 |
Genetic variation databases
BioMutai | ABCB9 |
DMDMi | 22095458 |
Proteomic databases
MassIVEi | Q9NP78 |
PaxDbi | Q9NP78 |
PeptideAtlasi | Q9NP78 |
PRIDEi | Q9NP78 |
ProteomicsDBi | 5823 81917 [Q9NP78-1] 81918 [Q9NP78-2] 81919 [Q9NP78-3] 81920 [Q9NP78-5] 81921 [Q9NP78-6] |
Protocols and materials databases
Antibodypediai | 31719, 230 antibodies |
Genome annotation databases
Organism-specific databases
CTDi | 23457 |
DisGeNETi | 23457 |
GeneCardsi | ABCB9 |
HGNCi | HGNC:50, ABCB9 |
HPAi | ENSG00000150967, Low tissue specificity |
MIMi | 605453, gene |
neXtProti | NX_Q9NP78 |
OpenTargetsi | ENSG00000150967 |
PharmGKBi | PA24391 |
VEuPathDBi | HostDB:ENSG00000150967.17 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0058, Eukaryota |
GeneTreei | ENSGT00940000155431 |
InParanoidi | Q9NP78 |
PhylomeDBi | Q9NP78 |
TreeFami | TF105197 |
Enzyme and pathway databases
BRENDAi | 3.6.3.43, 2681 |
PathwayCommonsi | Q9NP78 |
Reactomei | R-HSA-382556, ABC-family proteins mediated transport |
SABIO-RKi | Q9NP78 |
Miscellaneous databases
BioGRID-ORCSi | 23457, 10 hits in 877 CRISPR screens |
ChiTaRSi | ABCB9, human |
GeneWikii | ABCB9 |
GenomeRNAii | 23457 |
Pharosi | Q9NP78, Tbio |
PROi | PR:Q9NP78 |
RNActi | Q9NP78, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000150967, Expressed in right hemisphere of cerebellum and 221 other tissues |
ExpressionAtlasi | Q9NP78, baseline and differential |
Genevisiblei | Q9NP78, HS |
Family and domain databases
Gene3Di | 1.20.1560.10, 1 hit |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR011527, ABC1_TM_dom IPR036640, ABC1_TM_sf IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR030254, ABCB9 IPR027417, P-loop_NTPase IPR039421, Type_I_exporter |
PANTHERi | PTHR24221, PTHR24221, 1 hit PTHR24221:SF242, PTHR24221:SF242, 1 hit |
Pfami | View protein in Pfam PF00664, ABC_membrane, 1 hit PF00005, ABC_tran, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit SSF90123, SSF90123, 1 hit |
PROSITEi | View protein in PROSITE PS50929, ABC_TM1F, 1 hit PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ABCB9_HUMAN | |
Accessioni | Q9NP78Primary (citable) accession number: Q9NP78 Secondary accession number(s): B4E2J0 Q9P208 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 2, 2002 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 10, 2021 | |
This is version 191 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with genetic variants
List of human entries with genetic variants