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

Gene ID: 23457, updated on 7-Dec-2018

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

Genomic context

See ABCB9 in Genome Data Viewer
Location:
12q24.31
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (122917324..122975160, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123405498..123451056, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene huntingtin interacting protein 1 related Neighboring gene VPS37B, ESCRT-I subunit 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • ABC transporters, organism-specific biosystem (from KEGG)
    ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters, conserved biosystem (from KEGG)
    ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
    ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

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
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oligopeptide-transporting ATPase activity TAS
Traceable Author Statement
more info
 
peptide-transporting ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
NOT antigen processing and presentation of peptide antigen via MHC class I IDA
Inferred from Direct Assay
more info
PubMed 
oligopeptide transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
peptide transport IDA
Inferred from Direct Assay
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
NOT early endosome IDA
Inferred from Direct Assay
more info
PubMed 
NOT endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal membrane HDA PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ATP-binding cassette sub-family B member 9
Names
ABC transporter 9 protein
ATP-binding cassette, sub-family B (MDR/TAP), member 9
TAP-like protein

NCBI Reference Sequences (RefSeq)

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_001243013.1NP_001229942.1  ATP-binding cassette sub-family B member 9 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, DA796102
    Consensus CDS
    CCDS58286.1
    UniProtKB/Swiss-Prot
    Q9NP78
    Related
    ENSP00000441734.1, ENST00000540285.5
    Conserved Domains (1) summary
    cl26602
    Location:44675
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  2. NM_001243014.1NP_001229943.1  ATP-binding cassette sub-family B member 9 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, 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_019624.3NP_062570.1  ATP-binding cassette sub-family B member 9 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  ATP-binding cassette sub-family B member 9 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, ENST00000280560.12
    Conserved Domains (1) summary
    cl26602
    Location:44738
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  5. NM_203444.3NP_982269.2  ATP-binding cassette sub-family B member 9 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, 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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011538095.2XP_011536397.1  ATP-binding cassette sub-family B member 9 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
    cl26602
    Location:44738
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  2. XM_011538096.2XP_011536398.1  ATP-binding cassette sub-family B member 9 isoform X1

    See identical proteins and their annotated locations for XP_011536398.1

    UniProtKB/Swiss-Prot
    Q9NP78
    UniProtKB/TrEMBL
    A0A024RBU1
    Conserved Domains (1) summary
    cl26602
    Location:44738
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  3. XM_017019103.1XP_016874592.1  ATP-binding cassette sub-family B member 9 isoform X1

    UniProtKB/Swiss-Prot
    Q9NP78
    UniProtKB/TrEMBL
    A0A024RBU1
    Conserved Domains (1) summary
    cl26602
    Location:44738
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
  4. XM_005253558.2XP_005253615.1  ATP-binding cassette sub-family B member 9 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  ATP-binding cassette sub-family B member 9 isoform X3

  6. XM_011538098.2XP_011536400.1  ATP-binding cassette sub-family B member 9 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  ATP-binding cassette sub-family B member 9 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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