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    ABCB9 ATP binding cassette subfamily B member 9 [ Homo sapiens (human) ]

    Gene ID: 23457, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ABCB9provided by HGNC
    Official Full Name
    ATP binding cassette subfamily B member 9provided by HGNC
    Primary source
    HGNC:HGNC:50
    See related
    Ensembl:ENSG00000150967 MIM:605453; AllianceGenome:HGNC:50
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TAPL; EST122234
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 3.4), brain (RPKM 1.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABCB9 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (122918610..122975114, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (122913851..122971746, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123405495..123451010, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5023 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123329929-123330760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123338415-123338915 Neighboring gene Sharpr-MPRA regulatory region 11411 Neighboring gene uncharacterized LOC124903039 Neighboring gene huntingtin interacting protein 1 related Neighboring gene hESC enhancers GRCh37_chr12:123356243-123356750 and GRCh37_chr12:123356751-123357257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123357767-123358273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7241 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:123361289-123361497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7243 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123372974-123373690 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:123375921-123376422 Neighboring gene VPS37B subunit of ESCRT-I Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:123376423-123376922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5024 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123394282-123394782 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123394783-123395283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123407378-123407878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123407879-123408379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123414465-123414965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123424202-123425057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123429718-123430527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123431158-123431906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123449651-123450458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123450459-123451264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7248 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:123464801-123465306 and GRCh37_chr12:123465307-123465812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7249 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 2 Neighboring gene ARF like GTPase 6 interacting protein 4 Neighboring gene phosphatidylinositol transfer protein membrane associated 2 Neighboring gene microRNA 4304

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. results expand our knowledge about lysosomal trafficking of TAPL and the general function of extra transmembrane domains of ABC transporters
      Title: Lysosomal targeting of the ABC transporter TAPL is determined by membrane-localized charged residues.
    2. the TMD0 of TAPL was expressed via a cell-free expression system and confirmed its correct folding by NMR and interaction studies.
      Title: Structural and functional insights into the interaction and targeting hub TMD0 of the polypeptide transporter TAPL.
    3. The structure of the unique domain of TAPL, is reported.
      Title: Conformational stabilization of the membrane embedded targeting domain of the lysosomal peptide transporter TAPL for solution NMR.
    4. LAMP proteins retain TAPL on the limiting membrane of endosomes and prevent its sorting to intraluminal vesicles.
      Title: The lysosomal polypeptide transporter TAPL is stabilized by interaction with LAMP-1 and LAMP-2.
    5. These results suggest that TAPL may be localized to the microdomains (lipid rafts) of lysosomal membranes enriched in cholesterol.
      Title: Transporter associated with antigen processing-like (ABCB9) stably expressed in Chinese hamster ovary-K1 cells is sorted to the microdomains of lysosomal membranes.
    6. By dissecting ABCB9, distinct functions were assigned to the core complex and the extra N-terminal transmembrane domain.
      Title: Tuning the cellular trafficking of the lysosomal peptide transporter TAPL by its N-terminal domain.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
    8. These results suggest that the sorting signal for lysosomes is present within the amino-terminal transmembrane domain (Met(1)-Arg(141)) of the TAPL molecule.
      Title: Functional dissection of transmembrane domains of human TAP-like (ABCB9).
    9. analysis of lipid activation of the lysosomal transport complex ABCB9
      Title: Peptide specificity and lipid activation of the lysosomal transport complex ABCB9 (TAPL).
    10. the TAPL-specific translocation of peptides into isolated lysosomes strictly requires ATP hydrolysis
      Title: Identification of a lysosomal peptide transport system induced during dendritic cell development.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1520

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type oligopeptide transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ABC-type peptide transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    NOT involved_in antigen processing and presentation of peptide antigen via MHC class I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in oligopeptide transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in peptide metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptide transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    NOT located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lysosomal membrane HDA PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ABC-type oligopeptide transporter ABCB9
    Names
    ABC transporter 9 protein
    ATP-binding cassette sub-family B member 9
    ATP-binding cassette, sub-family B (MDR/TAP), member 9
    TAP-like protein
    NP_001229942.1
    NP_001229943.1
    NP_062570.1
    NP_062571.1
    NP_982269.2
    XP_011536397.1
    XP_011536398.1
    XP_011536400.1
    XP_016874592.1
    XP_047284580.1
    XP_047284582.1
    XP_054227568.1
    XP_054227569.1
    XP_054227570.1
    XP_054227571.1
    XP_054227572.1
    XP_054227573.1
    XP_054227574.1
    XP_054227575.1
    XP_054227576.1
    XP_054227577.1
    XP_054227578.1
    XP_054227579.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001243013.2 → NP_001229942.1  ABC-type oligopeptide transporter ABCB9 isoform 6

      See identical proteins and their annotated locations for NP_001229942.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (6) that is shorter than isoform 1.
      Source sequence(s)
      AK304295, CA503047
      Consensus CDS
      CCDS58286.1
      UniProtKB/TrEMBL
      Q6P2Q0
      Related
      ENSP00000441734.1, ENST00000540285.5
      Conserved Domains (1) summary
      TIGR00958
      Location:44 → 675
      3a01208; Conjugate Transporter-2 (CT2) Family protein

    2. NM_001243014.2 → NP_001229943.1  ABC-type oligopeptide transporter ABCB9 isoform 5

      See identical proteins and their annotated locations for NP_001229943.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as 12C) has an alternate 3' exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (5) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AB112583, AC027290, DA796102
      Consensus CDS
      CCDS58287.1
      UniProtKB/TrEMBL
      Q6P2Q0
      Related
      ENSP00000456813.1, ENST00000344275.11
      Conserved Domains (1) summary
      cl26602
      Location:44 → 681
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    3. NM_019624.4 → NP_062570.1  ABC-type oligopeptide transporter ABCB9 isoform 2

      See identical proteins and their annotated locations for NP_062570.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to the variant 1, resulting in an isoform (2) that is shorter than isoform 1. There are no publicly available transcripts representing this variant; it is supported by experimental data in PMID:10748049.
      Source sequence(s)
      AF216494, CA503047, DA796102
      UniProtKB/TrEMBL
      Q6P2Q0
      Related
      ENSP00000280559.7, ENST00000346530.9
      Conserved Domains (1) summary
      cl26602
      Location:44 → 695
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    4. NM_019625.4 → NP_062571.1  ABC-type oligopeptide transporter ABCB9 isoform 1

      See identical proteins and their annotated locations for NP_062571.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as 12A) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF216494, CA503047, DA796102
      Consensus CDS
      CCDS9241.1
      UniProtKB/Swiss-Prot
      B4E2J0, Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9NP78, Q9P208
      UniProtKB/TrEMBL
      Q6P2Q0
      Related
      ENSP00000280560.8, ENST00000280560.13
      Conserved Domains (1) summary
      TIGR00958
      Location:44 → 738
      3a01208; Conjugate Transporter-2 (CT2) Family protein

    5. NM_203444.4 → NP_982269.2  ABC-type oligopeptide transporter ABCB9 isoform 4

      See identical proteins and their annotated locations for NP_982269.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as 12B) has an alternate 3' exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AB112582, AC027290, DA796102
      Consensus CDS
      CCDS58288.1
      UniProtKB/TrEMBL
      Q6P2Q0
      Related
      ENSP00000456375.1, ENST00000442833.6
      Conserved Domains (1) summary
      cl26602
      Location:44 → 680
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      122918610..122975114 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538095.3 → XP_011536397.1  ABC-type oligopeptide transporter ABCB9 isoform X1

      See identical proteins and their annotated locations for XP_011536397.1

      UniProtKB/Swiss-Prot
      B4E2J0, Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9NP78, Q9P208
      UniProtKB/TrEMBL
      Q6P2Q0
      Related
      ENSP00000376234.3, ENST00000392439.7
      Conserved Domains (1) summary
      TIGR00958
      Location:44 → 738
      3a01208; Conjugate Transporter-2 (CT2) Family protein

    2. XM_047428624.1 → XP_047284580.1  ABC-type oligopeptide transporter ABCB9 isoform X2

    3. XM_011538096.3 → XP_011536398.1  ABC-type oligopeptide transporter ABCB9 isoform X1

      See identical proteins and their annotated locations for XP_011536398.1

      UniProtKB/Swiss-Prot
      B4E2J0, Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9NP78, Q9P208
      UniProtKB/TrEMBL
      Q6P2Q0
      Related
      ENSP00000440288.1, ENST00000542678.5
      Conserved Domains (1) summary
      TIGR00958
      Location:44 → 738
      3a01208; Conjugate Transporter-2 (CT2) Family protein

    4. XM_017019103.2 → XP_016874592.1  ABC-type oligopeptide transporter ABCB9 isoform X1

      UniProtKB/Swiss-Prot
      B4E2J0, Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9NP78, Q9P208
      UniProtKB/TrEMBL
      Q6P2Q0
      Conserved Domains (1) summary
      TIGR00958
      Location:44 → 738
      3a01208; Conjugate Transporter-2 (CT2) Family protein

    5. XM_011538098.3 → XP_011536400.1  ABC-type oligopeptide transporter ABCB9 isoform X3

      See identical proteins and their annotated locations for XP_011536400.1

      UniProtKB/TrEMBL
      Q8NCH1
      Conserved Domains (3) summary
      cd03248
      Location:275 → 500
      ABCC_TAP; ATP-binding cassette domain of the Transporter Associated with Antigen Processing, subfamily C
      COG5265
      Location:48 → 522
      ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]
      pfam00664
      Location:24 → 237
      ABC_membrane; ABC transporter transmembrane region

    6. XM_047428626.1 → XP_047284582.1  ABC-type oligopeptide transporter ABCB9 isoform X4

    RNA

    1. XR_007063061.1 RNA Sequence

    2. XR_007063062.1 RNA Sequence

    3. XR_001748647.3 RNA Sequence

    4. XR_001748646.3 RNA Sequence

    5. XR_001748645.3 RNA Sequence

    6. XR_429086.5 RNA Sequence

    7. XR_007063063.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      122913851..122971746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371597.1 → XP_054227572.1  ABC-type oligopeptide transporter ABCB9 isoform X1

      UniProtKB/Swiss-Prot
      B4E2J0, Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9NP78, Q9P208

    2. XM_054371594.1 → XP_054227569.1  ABC-type oligopeptide transporter ABCB9 isoform X1

      UniProtKB/Swiss-Prot
      B4E2J0, Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9NP78, Q9P208

    3. XM_054371593.1 → XP_054227568.1  ABC-type oligopeptide transporter ABCB9 isoform X1

      UniProtKB/Swiss-Prot
      B4E2J0, Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9NP78, Q9P208

    4. XM_054371601.1 → XP_054227576.1  ABC-type oligopeptide transporter ABCB9 isoform X2

    5. XM_054371598.1 → XP_054227573.1  ABC-type oligopeptide transporter ABCB9 isoform X1

      UniProtKB/Swiss-Prot
      B4E2J0, Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9NP78, Q9P208

    6. XM_054371595.1 → XP_054227570.1  ABC-type oligopeptide transporter ABCB9 isoform X1

      UniProtKB/Swiss-Prot
      B4E2J0, Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9NP78, Q9P208

    7. XM_054371599.1 → XP_054227574.1  ABC-type oligopeptide transporter ABCB9 isoform X1

      UniProtKB/Swiss-Prot
      B4E2J0, Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9NP78, Q9P208

    8. XM_054371596.1 → XP_054227571.1  ABC-type oligopeptide transporter ABCB9 isoform X1

      UniProtKB/Swiss-Prot
      B4E2J0, Q5W9G7, Q769F3, Q769F4, Q96AB1, Q9NP78, Q9P208

    9. XM_054371600.1 → XP_054227575.1  ABC-type oligopeptide transporter ABCB9 isoform X2

    10. XM_054371602.1 → XP_054227577.1  ABC-type oligopeptide transporter ABCB9 isoform X5

    11. XM_054371603.1 → XP_054227578.1  ABC-type oligopeptide transporter ABCB9 isoform X3

    12. XM_054371604.1 → XP_054227579.1  ABC-type oligopeptide transporter ABCB9 isoform X4

    RNA

    1. XR_008488556.1 RNA Sequence

    2. XR_008488557.1 RNA Sequence

    3. XR_008488553.1 RNA Sequence

    4. XR_008488559.1 RNA Sequence

    5. XR_008488555.1 RNA Sequence

    6. XR_008488558.1 RNA Sequence

    7. XR_008488554.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_203445.1: Suppressed sequence

      Description
      NM_203445.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NP78.1 GenPept UniProtKB/Swiss-Prot:Q9NP78

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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