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

Gene ID: 23457, updated on 23-Nov-2021

Summary

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
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
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Genomic context

See ABCB9 in Genome Data Viewer
Location:
12q24.31
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (122917324..122975160, complement)
105.20201022 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 huntingtin interacting protein 1 related Neighboring gene Sharpr-MPRA regulatory region 12402 Neighboring gene VPS37B subunit of ESCRT-I Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 2 Neighboring gene ADP ribosylation factor like GTPase 6 interacting protein 4 Neighboring gene phosphatidylinositol transfer protein membrane associated 2 Neighboring gene microRNA 4304

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
GeneReviews: Not available
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 antigen transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ABC-type peptide transporter activity IBA
Inferred from Biological aspect of Ancestor
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 ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to MHC class I protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables TAP1 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

General protein information

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_005253615.1
XP_011536397.1
XP_011536398.1
XP_011536400.1
XP_016874592.1
XP_024304676.1
XP_024304677.1

NCBI Reference Sequences (RefSeq)

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_001243013.2NP_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/Swiss-Prot
    Q9NP78
    Related
    ENSP00000441734.1, ENST00000540285.5
    Conserved Domains (1) summary
    TIGR00958
    Location:44675
    3a01208; Conjugate Transporter-2 (CT2) Family protein
  2. NM_001243014.2NP_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/Swiss-Prot
    Q9NP78
    Related
    ENSP00000456813.1, ENST00000344275.11
    Conserved Domains (1) summary
    cl26602
    Location:44681
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  3. NM_019624.4NP_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/Swiss-Prot
    Q9NP78
    Related
    ENSP00000280559.7, ENST00000346530.9
    Conserved Domains (1) summary
    cl26602
    Location:44695
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  4. NM_019625.4NP_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
    Q9NP78
    UniProtKB/TrEMBL
    A0A024RBU1
    Related
    ENSP00000280560.8, ENST00000280560.13
    Conserved Domains (1) summary
    TIGR00958
    Location:44738
    3a01208; Conjugate Transporter-2 (CT2) Family protein
  5. NM_203444.4NP_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/Swiss-Prot
    Q9NP78
    Related
    ENSP00000456375.1, ENST00000442833.6
    Conserved Domains (1) summary
    cl26602
    Location:44680
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    122917324..122975160 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538095.2XP_011536397.1  ABC-type oligopeptide transporter ABCB9 isoform X1

    See identical proteins and their annotated locations for XP_011536397.1

    UniProtKB/Swiss-Prot
    Q9NP78
    UniProtKB/TrEMBL
    A0A024RBU1
    Related
    ENSP00000376234.3, ENST00000392439.7
    Conserved Domains (1) summary
    TIGR00958
    Location:44738
    3a01208; Conjugate Transporter-2 (CT2) Family protein
  2. XM_011538096.2XP_011536398.1  ABC-type oligopeptide transporter ABCB9 isoform X1

    See identical proteins and their annotated locations for XP_011536398.1

    UniProtKB/Swiss-Prot
    Q9NP78
    UniProtKB/TrEMBL
    A0A024RBU1
    Conserved Domains (1) summary
    TIGR00958
    Location:44738
    3a01208; Conjugate Transporter-2 (CT2) Family protein
  3. XM_017019103.1XP_016874592.1  ABC-type oligopeptide transporter ABCB9 isoform X1

    UniProtKB/Swiss-Prot
    Q9NP78
    UniProtKB/TrEMBL
    A0A024RBU1
    Conserved Domains (1) summary
    TIGR00958
    Location:44738
    3a01208; Conjugate Transporter-2 (CT2) Family protein
  4. XM_005253558.2XP_005253615.1  ABC-type oligopeptide transporter ABCB9 isoform X2

    See identical proteins and their annotated locations for XP_005253615.1

    Conserved Domains (3) summary
    cd03248
    Location:275500
    ABCC_TAP; ATP-binding cassette domain of the Transporter Associated with Antigen Processing, subfamily C
    COG5265
    Location:48522
    ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]
    pfam00664
    Location:24237
    ABC_membrane; ABC transporter transmembrane region
  5. XM_024448908.1XP_024304676.1  ABC-type oligopeptide transporter ABCB9 isoform X3

    Conserved Domains (1) summary
    cl26602
    Location:24457
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  6. XM_011538098.2XP_011536400.1  ABC-type oligopeptide transporter ABCB9 isoform X2

    See identical proteins and their annotated locations for XP_011536400.1

    Conserved Domains (3) summary
    cd03248
    Location:275500
    ABCC_TAP; ATP-binding cassette domain of the Transporter Associated with Antigen Processing, subfamily C
    COG5265
    Location:48522
    ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]
    pfam00664
    Location:24237
    ABC_membrane; ABC transporter transmembrane region
  7. XM_024448909.1XP_024304677.1  ABC-type oligopeptide transporter ABCB9 isoform X4

    Conserved Domains (1) summary
    cl26602
    Location:24400
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

RNA

  1. XR_001748648.2 RNA Sequence

  2. XR_001748646.2 RNA Sequence

  3. XR_429086.4 RNA Sequence

  4. XR_002957301.1 RNA Sequence

  5. XR_001748647.2 RNA Sequence

  6. XR_001748645.2 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.
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