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FLASH GENE
Symbol TAP1 contributors: mct - updated : 01-12-2016
HGNC name transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
HGNC id 43
Corresponding disease
BLS1B bare lymphocyte syndrome type IB
Location 6p21.32      Physical location : 4.045.093 - 32.821.748
Synonym name
  • antigen peptide transporter 1
  • transporter associated with antigen processing 1
  • Synonym symbol(s) CIM, HAM1, MTP1, RING4, ABCB2, PSF1, ABC17, ATP1, TAP1N, D6S114E, MDR/TAP
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text
  • located in the major histocompatibility complex class II region
  • STRUCTURE 8.76 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • nonfunctiomnal TAP1 promoter polymorphism in tumors
  • MAPPING cloned Y linked Y status confirmed
    Map see RING@
    Physical map
    BTNL2 6p21.3 butyrophilin-like 2 (MHC class II associated) HLA-DRA 6p21.3 major histocompatibility complex, class II, DR alpha HLA-DRB9 6p21.3 major histocompatibility complex, class II, DR beta 9 (pseudogene) HLA-DRB3 6p21.3 major histocompatibility complex, class II, DR beta 3 HLA-DRB2 6p21.3 major histocompatibility complex, class II, DR beta 2 HLA-DRB1 6p21.3 major histocompatibility complex, class II, DR beta 1 HLA-DQA1 6p21.3 major histocompatibility complex, class II, DQ alpha 1 HLA-DQB1 6p21.3 major histocompatibility complex, class II, DQ beta 1 HLA-DQA2 6p21.3 major histocompatibility complex, class II, DQ alpha 2 HLA-DQB2 6p21.3 major histocompatibility complex, class II, DQ beta 2 HLA-DOB 6p21.3 major histocompatibility complex, class II, DO beta TAP2 6p21.3 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) PSMB8 6p21.3 proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7) TAP1 6p21.3 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) PSMB9 6p21.3 proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2) PPP1R2P1 6p21.31 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 1 LOC389380 6 LOC389380 HLA-DMB 6p21.3 major histocompatibility complex, class II, DM beta HLA-DMA 6p21.3 major histocompatibility complex, class II, DM alpha BRD2 6p21.3 bromodomain containing 2 HLA-DOA 6p21.3 major histocompatibility complex, class II, DO alpha HLA-DPA1 6p21.3 major histocompatibility complex, class II, DP alpha 1 HLA-DPB1 6p21.3 major histocompatibility complex, class II, DP beta 1 RPL32P1 6p21.3 ribosomal protein L32 pseudogene 1 LOC391913 6 similar to MHC HLA-SX-alpha HLA-DPB2 6p21.3 major histocompatibility complex, class II, DP beta 2 (pseudogene) COL11A2 6p21.3 collagen, type XI, alpha 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2974 - 808 - 1992 1453454
    11 - 2234 - 547 - 1992 1453454
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Lymphoid/Immunelymph node   moderately
     spleen   highly
     thymus   highly
    Reproductivefemale systemuteruscervix moderately
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal transmembrane domain (six segments), and three tapasin binding sites, two of which are located in the N-terminal domains of TAP1 and TAP2
  • the third tapasin binding site is present in the core transmembrane (TM) domain of TAP1 and is used only by the unassembled subunits
  • a nucleotide binding domain
  • a C terminal ABC ATPase domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to rattus Tap1 (72.60 pc)
    homolog to murine Tap1 (73.06 pc)
    Homologene
    FAMILY
  • ATP binding cassette superfamily
  • subfamily B (MDR/TAP)
  • CATEGORY immunity/defense , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • transporting cytosolic peptides, generated by the proteasome, to the ER lumen for loading onto MHC class I molecules
  • involved in multidrug resistance
  • playing a key role in antigen processing and presentation
  • transporter associated with antigen processing (TAP1 and TAP2) represents a focal point in the immune recognition of virally or malignantly transformed cells by translocating proteasomal degradation products into the endoplasmic reticulum-lumen for loading of MHC class I molecules
  • TAP1, TAP2 binds to peptide-receptive MHC class I molecules to form the MHC class I peptide-loading complex (PLC)
  • normal influx of TAP1, TAP2-transported peptides in the ER during routine processing creates an efficient barrier for peptides from alternative processing routes
  • TAP1, TAP2 translocates cellular peptides across the endoplasmic reticulum membrane in an ATP hydrolysis-dependent manner
  • TAP1 and TAP-associated glycoprotein (TAPBP) play important roles in regulating MHC class I expression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component with TAP2 of a heterodimer, component of a functional peptide-transporting complex with HLA-I and TAPBP
  • ER-resident peptide-loading complex (PLC) consists of the transporter associated with antigen processing (TAP1 and TAP2), assembled with the auxiliary factors TAPBP and MHC I
  • TAP1, TAP2/TAPBP complex formation is driven by hydrophobic interactions via leucine zipper-like motifs
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • MHC-linked transporter associated with antigen processing 1
  • ABCB3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BLS1B
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    correlated with a more aggressive phenotype as well as worse prognosis in hepatocellular carcinoma patients
    Susceptibility
  • to ankylosing spondytitis
  • to alopecia areata (AA)
  • Variant & Polymorphism SNP
  • association between a promoter SNP (rs2071480) and susceptibility to AA
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    inhibition of TAP1 might provide new therapeutic approaches for HCC
    ANIMAL & CELL MODELS