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    TAP1 transporter 1, ATP binding cassette subfamily B member [ Homo sapiens (human) ]

    Gene ID: 6890, updated on 23-Nov-2021

    Summary

    Official Symbol
    TAP1provided by HGNC
    Official Full Name
    transporter 1, ATP binding cassette subfamily B memberprovided by HGNC
    Primary source
    HGNC:HGNC:43
    See related
    Ensembl:ENSG00000168394 MIM:170260
    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
    APT1; PSF1; ABC17; ABCB2; PSF-1; RING4; TAP1N; D6S114E; TAP1*0102N
    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. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
    Expression
    Ubiquitous expression in spleen (RPKM 57.6), appendix (RPKM 54.1) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TAP1 in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32845209..32853704, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32812986..32821481, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene transporter 2, ATP binding cassette subfamily B member Neighboring gene meiotic recombination hotspot TAP2 Neighboring gene proteasome 20S subunit beta 8 Neighboring gene PSMB8 antisense RNA 1 (head to head) Neighboring gene proteasome 20S subunit beta 9 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 1

    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
    Bare lymphocyte syndrome type 1
    MedGen: C1858266 OMIM: 604571 GeneReviews: Not available
    Compare labs
    Genome-wide association study identifies susceptibility loci for IgA nephropathy.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat upregulates the interferon-responsive gene expression of many proteins, including RING4, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ26666, FLJ41500

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type peptide antigen transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ABC-type peptide antigen transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ABC-type peptide antigen transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ABC-type peptide transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ADP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IMP
    Inferred from Mutant Phenotype
    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 MHC class Ib protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables TAP1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables TAP1 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables TAP2 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptide antigen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptide antigen binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    contributes_to peptide transmembrane transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables peptide transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    antigen peptide transporter 1
    Names
    ABC transporter, MHC 1
    ATP-binding cassette sub-family B member 2
    ATP-binding cassette, sub-family B (MDR/TAP), member 2
    peptide supply factor 1
    peptide transporter PSF1
    peptide transporter TAP1
    peptide transporter involved in antigen processing 1
    really interesting new gene 4 protein
    transporter 1 ATP-binding cassette sub-family B
    transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
    transporter associated with antigen processing
    transporter, ATP-binding cassette, major histocompatibility complex, 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.

    Genomic

    1. NG_011759.1 RefSeqGene

      Range
      5268..13763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_166

    mRNA and Protein(s)

    1. NM_000593.6NP_000584.3  antigen peptide transporter 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL669918, KU178346
      Consensus CDS
      CCDS4758.1
      Related
      ENSP00000346206.5, ENST00000354258.5
      Conserved Domains (1) summary
      TIGR00958
      Location:18740
      3a01208; Conjugate Transporter-2 (CT2) Family protein
    2. NM_001292022.2NP_001278951.1  antigen peptide transporter 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK302340, BC014081, DC354917
      UniProtKB/Swiss-Prot
      Q03518
      UniProtKB/TrEMBL
      B7Z7P4
      Related
      ENST00000645078.1
      Conserved Domains (3) summary
      cd03248
      Location:291519
      ABCC_TAP; ATP-binding cassette domain of the Transporter Associated with Antigen Processing, subfamily C
      COG1132
      Location:1541
      MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]
      pfam00664
      Location:1257
      ABC_membrane; ABC transporter transmembrane region

    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_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      32845209..32853704 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      4150074..4158569 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

      Range
      4257408..4265903 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

      Range
      4088779..4097274 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

      Range
      4264562..4273057 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

      Range
      4144278..4152773 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

      Range
      4039497..4047992 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

      Range
      4244461..4252956 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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