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Q03519

- TAP2_HUMAN

UniProt

Q03519 - TAP2_HUMAN

Protein

Antigen peptide transporter 2

Gene

TAP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 162 (01 Oct 2014)
      Sequence version 1 (01 Jun 1994)
      Previous versions | rss
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    Functioni

    Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi503 – 5108ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB
    2. MHC class Ib protein binding Source: UniProt
    3. peptide antigen-transporting ATPase activity Source: UniProtKB
    4. protein binding Source: IntAct
    5. TAP1 binding Source: UniProtKB
    6. tapasin binding Source: UniProtKB
    7. transporter activity Source: MGI

    GO - Biological processi

    1. antigen processing and presentation of endogenous peptide antigen via MHC class I Source: UniProtKB
    2. antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent Source: UniProtKB
    3. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent Source: RefGenome
    4. antigen processing and presentation of exogenous peptide antigen via MHC class I Source: Reactome
    5. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Source: Reactome
    6. antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent Source: RefGenome
    7. antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
    8. cytosol to ER transport Source: UniProtKB
    9. intracellular transport of viral protein in host cell Source: UniProtKB
    10. peptide antigen transport Source: UniProtKB
    11. positive regulation of antigen processing and presentation of peptide antigen via MHC class I Source: RefGenome
    12. transmembrane transport Source: RefGenome

    Keywords - Biological processi

    Adaptive immunity, Host-virus interaction, Immunity, Peptide transport, Protein transport, Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDAi3.6.3.43. 2681.
    ReactomeiREACT_111178. ER-Phagosome pathway.
    REACT_75795. Antigen Presentation: Folding, assembly and peptide loading of class I MHC.

    Protein family/group databases

    TCDBi3.A.1.209.1. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Antigen peptide transporter 2
    Short name:
    APT2
    Alternative name(s):
    ATP-binding cassette sub-family B member 3
    Peptide supply factor 2
    Peptide transporter PSF2
    Short name:
    PSF-2
    Peptide transporter TAP2
    Peptide transporter involved in antigen processing 2
    Really interesting new gene 11 protein
    Gene namesi
    Name:TAP2
    Synonyms:ABCB3, PSF2, RING11, Y1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:44. TAP2.

    Subcellular locationi

    Endoplasmic reticulum membrane; Multi-pass membrane protein
    Note: The transmembrane segments seem to form a pore in the membrane.

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of endoplasmic reticulum membrane Source: UniProtKB
    3. integral component of membrane Source: UniProtKB
    4. membrane Source: UniProtKB
    5. TAP complex Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Bare lymphocyte syndrome 1 (BLS1) [MIM:604571]: A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi604571. phenotype.
    Orphaneti34592. Immunodeficiency by defective expression of HLA class 1.
    PharmGKBiPA35022.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 686686Antigen peptide transporter 2PRO_0000093329Add
    BLAST

    Proteomic databases

    MaxQBiQ03519.
    PaxDbiQ03519.
    PRIDEiQ03519.

    PTM databases

    PhosphoSiteiQ03519.

    Expressioni

    Inductioni

    By IFNG/IFN-gamma.

    Gene expression databases

    ArrayExpressiQ03519.
    BgeeiQ03519.
    CleanExiHS_TAP2.
    GenevestigatoriQ03519.

    Organism-specific databases

    HPAiHPA001312.

    Interactioni

    Subunit structurei

    Heterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BLNF2a.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BNLF2aP0C7396EBI-780781,EBI-9346744From a different organism.
    TAP1Q0351813EBI-780781,EBI-747259
    TAPBPO155338EBI-780781,EBI-874801

    Protein-protein interaction databases

    BioGridi112754. 13 interactions.
    DIPiDIP-322N.
    IntActiQ03519. 7 interactions.
    MINTiMINT-2838244.
    STRINGi9606.ENSP00000372726.

    Structurei

    3D structure databases

    ProteinModelPortaliQ03519.
    SMRiQ03519. Positions 140-685.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66LumenalSequence Analysis
    Topological domaini28 – 5629CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini78 – 9821LumenalSequence AnalysisAdd
    BLAST
    Topological domaini120 – 14829CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini170 – 18718LumenalSequence AnalysisAdd
    BLAST
    Topological domaini209 – 26658CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini288 – 2936LumenalSequence Analysis
    Topological domaini315 – 37460CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini396 – 40813LumenalSequence AnalysisAdd
    BLAST
    Topological domaini430 – 686257CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2721Helical; Name=1PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei57 – 7721Helical; Name=2PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei99 – 11921Helical; Name=3PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei149 – 16921Helical; Name=4PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei188 – 20821Helical; Name=5PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei267 – 28721Helical; Name=6PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei294 – 31421Helical; Name=7PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei375 – 39521Helical; Name=8PROSITE-ProRule annotationAdd
    BLAST
    Transmembranei409 – 42921Helical; Name=9PROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini152 – 435284ABC transmembrane type-1PROSITE-ProRule annotationAdd
    BLAST
    Domaini468 – 686219ABC transporterPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni301 – 38989Involved in peptide-binding siteAdd
    BLAST
    Regioni414 – 43320Involved in peptide-binding siteAdd
    BLAST

    Domaini

    The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2.

    Sequence similaritiesi

    Contains 1 ABC transmembrane type-1 domain.PROSITE-ProRule annotation
    Contains 1 ABC transporter domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1132.
    HOVERGENiHBG008358.
    InParanoidiQ03519.
    KOiK05654.
    OMAiLINDIAM.
    PhylomeDBiQ03519.
    TreeFamiTF105197.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR013306. ABC_B3.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR005293. Ag_transporter2.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF00664. ABC_membrane. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view]
    PRINTSiPR01897. TAP2PROTEIN.
    SMARTiSM00382. AAA. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    SSF90123. SSF90123. 1 hit.
    TIGRFAMsiTIGR00958. 3a01208. 1 hit.
    PROSITEiPS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q03519-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MRLPDLRPWT SLLLVDAALL WLLQGPLGTL LPQGLPGLWL EGTLRLGGLW    50
    GLLKLRGLLG FVGTLLLPLC LATPLTVSLR ALVAGASRAP PARVASAPWS 100
    WLLVGYGAAG LSWSLWAVLS PPGAQEKEQD QVNNKVLMWR LLKLSRPDLP 150
    LLVAAFFFLV LAVLGETLIP HYSGRVIDIL GGDFDPHAFA SAIFFMCLFS 200
    FGSSLSAGCR GGCFTYTMSR INLRIREQLF SSLLRQDLGF FQETKTGELN 250
    SRLSSDTTLM SNWLPLNANV LLRSLVKVVG LYGFMLSISP RLTLLSLLHM 300
    PFTIAAEKVY NTRHQEVLRE IQDAVARAGQ VVREAVGGLQ TVRSFGAEEH 350
    EVCRYKEALE QCRQLYWRRD LERALYLLVR RVLHLGVQML MLSCGLQQMQ 400
    DGELTQGSLL SFMIYQESVG SYVQTLVYIY GDMLSNVGAA EKVFSYMDRQ 450
    PNLPSPGTLA PTTLQGVVKF QDVSFAYPNR PDRPVLKGLT FTLRPGEVTA 500
    LVGPNGSGKS TVAALLQNLY QPTGGQVLLD EKPISQYEHC YLHSQVVSVG 550
    QEPVLFSGSV RNNIAYGLQS CEDDKVMAAA QAAHADDFIQ EMEHGIYTDV 600
    GEKGSQLAAG QKQRLAIARA LVRDPRVLIL DEATSALDVQ CEQALQDWNS 650
    RGDRTVLVIA HRLQTVQRAH QILVLQEGKL QKLAQL 686
    Length:686
    Mass (Da):75,664
    Last modified:June 1, 1994 - v1
    Checksum:iE7E4A7F6A2A3B48B
    GO
    Isoform 2 (identifier: Q03519-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         645-686: LQDWNSRGDRTVLVIAHRLQTVQRAHQILVLQEGKLQKLAQL → KTLWKFMIF

    Show »
    Length:653
    Mass (Da):72,003
    Checksum:iAA79C3E9C6FE31AB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti345 – 3451F → I in BAD97020. 1 PublicationCurated
    Sequence conflicti520 – 5201Y → N in BAD97020. 1 PublicationCurated
    Sequence conflicti655 – 6551T → A in BAD97020. 1 PublicationCurated

    Polymorphismi

    4 common alleles are officially recognized: TAP2*01:01 (TAP2A or PSF2A or RING11A), TAP2*01:02 (TAP2E), TAP2*01:03 (TAP2F), and TAP2*02:01 (TAP2B or PSF2B or RING11B). Other relatively common alleles have been identified: TAP2*01D, TAP2*01E, TAP2*01F, TAP2*01G, TAP2*01H, TAP2*02B, TAP2*02C (TAP2*02:02), TAP2*02D, TAP2*02E, TAP2*02F, TAP2*03A and TAP2*04A. The sequence shown is that of TAP2*01:01.
    The allele TAP2*Bky2 is commonly found only in the Japanese population. It may be associated with susceptibility to Sjoegren syndrome, an autoimmune disorder characterized by abnormal dryness of the conjunctiva, cornea and mouth due to exocrine glands dysfunction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti56 – 561R → K.
    Corresponds to variant rs17220192 [ dbSNP | Ensembl ].
    VAR_036873
    Natural varianti374 – 3741A → T in allele TAP2*01F, allele TAP2*01G, allele TAP2*01H, allele TAP2*02B and allele TAP2*02D. 2 Publications
    Corresponds to variant rs111303994 [ dbSNP | Ensembl ].
    VAR_014997
    Natural varianti379 – 3791V → I in allele TAP2*01D, allele TAP2*01E, allele TAP2*01G, allele TAP2*02C and allele TAP2*02F. 3 Publications
    Corresponds to variant rs1800454 [ dbSNP | Ensembl ].
    VAR_000094
    Natural varianti467 – 4671V → I in allele TAP2*01F and allele TAP2*02D. 2 Publications
    Corresponds to variant rs150253319 [ dbSNP | Ensembl ].
    VAR_014998
    Natural varianti513 – 5131A → S Rare polymorphism.
    VAR_014999
    Natural varianti565 – 5651A → T in allele TAP2*01:02, allele TAP2*01D, allele TAP2*02E and allele TAP2*02F. 1 Publication
    Corresponds to variant rs2228396 [ dbSNP | Ensembl ].
    VAR_000095
    Natural varianti577 – 5771M → V in allele TAP2*BKY2. 1 Publication
    Corresponds to variant rs2228391 [ dbSNP | Ensembl ].
    VAR_015000
    Natural varianti651 – 6511R → C in allele TAP2*01:03 and allele TAP2*01G. 1 Publication
    Corresponds to variant rs4148876 [ dbSNP | Ensembl ].
    VAR_000096
    Natural varianti665 – 6651T → A in allele TAP2*02:01, allele TAP2*02B, allele TAP2*02C, allele TAP2*02D, allele TAP2*02E, allele TAP2*02F, allele TAP2*04A and allele TAP2*Bky2. 2 Publications
    Corresponds to variant rs241447 [ dbSNP | Ensembl ].
    VAR_000097
    Natural varianti686 – 6861L → LQEGQDLYSRLVQQRLMD in allele TAP2*02:01, allele TAP2*02B, allele TAP2*02C, allele TAP2*02D, allele TAP2*02E, allele TAP2*02F, allele TAP2*03A and allele TAP2*BKY2.
    VAR_000098

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei645 – 68642LQDWN…KLAQL → KTLWKFMIF in isoform 2. 1 PublicationVSP_038904Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X66401 Genomic DNA. Translation: CAA47027.1.
    M84748 mRNA. No translation available.
    M74447 mRNA. Translation: AAA59841.1.
    Z22935 mRNA. Translation: CAA80522.1.
    Z22936 mRNA. Translation: CAA80523.1.
    AB073779 mRNA. Translation: BAB71769.1.
    AF105151 mRNA. Translation: AAD12059.1.
    X87344 Genomic DNA. Translation: CAA60788.1.
    AK222823 mRNA. Translation: BAD96543.1.
    AK223300 mRNA. Translation: BAD97020.1.
    BX296564 Genomic DNA. No translation available.
    CR788227 Genomic DNA. No translation available.
    BX682530 Genomic DNA. Translation: CAI41935.1.
    CR762476 Genomic DNA. Translation: CAQ08491.1.
    CR753889 Genomic DNA. Translation: CAQ10283.1.
    CT009502 Genomic DNA. Translation: CAQ07778.1.
    BC002751 mRNA. No translation available.
    U07844 mRNA. Translation: AAA79901.1.
    AH007554 Genomic DNA. Translation: AAD23381.1.
    L09191 mRNA. Translation: AAA58648.1.
    L10287 mRNA. Translation: AAA58649.1.
    CCDSiCCDS4755.1. [Q03519-2]
    PIRiB41538.
    RefSeqiNP_000535.3. NM_000544.3.
    NP_001276972.1. NM_001290043.1. [Q03519-1]
    NP_061313.2. NM_018833.2. [Q03519-2]
    UniGeneiHs.502.

    Genome annotation databases

    EnsembliENST00000374897; ENSP00000364032; ENSG00000204267. [Q03519-1]
    ENST00000374899; ENSP00000364034; ENSG00000204267. [Q03519-2]
    ENST00000383118; ENSP00000372599; ENSG00000206235. [Q03519-1]
    ENST00000383119; ENSP00000372600; ENSG00000206235. [Q03519-2]
    ENST00000383239; ENSP00000372726; ENSG00000206299. [Q03519-1]
    ENST00000383240; ENSP00000372727; ENSG00000206299. [Q03519-2]
    ENST00000414145; ENSP00000401377; ENSG00000228582. [Q03519-2]
    ENST00000419142; ENSP00000390013; ENSG00000237599.
    ENST00000426977; ENSP00000387553; ENSG00000232326. [Q03519-2]
    ENST00000439425; ENSP00000396156; ENSG00000225967. [Q03519-2]
    ENST00000443713; ENSP00000394101; ENSG00000228582. [Q03519-1]
    ENST00000451907; ENSP00000392172; ENSG00000223481. [Q03519-2]
    GeneIDi6891.
    KEGGihsa:6891.
    UCSCiuc003occ.3. human. [Q03519-1]

    Polymorphism databases

    DMDMi549044.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    TAP2base

    TAP2 mutation db

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X66401 Genomic DNA. Translation: CAA47027.1 .
    M84748 mRNA. No translation available.
    M74447 mRNA. Translation: AAA59841.1 .
    Z22935 mRNA. Translation: CAA80522.1 .
    Z22936 mRNA. Translation: CAA80523.1 .
    AB073779 mRNA. Translation: BAB71769.1 .
    AF105151 mRNA. Translation: AAD12059.1 .
    X87344 Genomic DNA. Translation: CAA60788.1 .
    AK222823 mRNA. Translation: BAD96543.1 .
    AK223300 mRNA. Translation: BAD97020.1 .
    BX296564 Genomic DNA. No translation available.
    CR788227 Genomic DNA. No translation available.
    BX682530 Genomic DNA. Translation: CAI41935.1 .
    CR762476 Genomic DNA. Translation: CAQ08491.1 .
    CR753889 Genomic DNA. Translation: CAQ10283.1 .
    CT009502 Genomic DNA. Translation: CAQ07778.1 .
    BC002751 mRNA. No translation available.
    U07844 mRNA. Translation: AAA79901.1 .
    AH007554 Genomic DNA. Translation: AAD23381.1 .
    L09191 mRNA. Translation: AAA58648.1 .
    L10287 mRNA. Translation: AAA58649.1 .
    CCDSi CCDS4755.1. [Q03519-2 ]
    PIRi B41538.
    RefSeqi NP_000535.3. NM_000544.3.
    NP_001276972.1. NM_001290043.1. [Q03519-1 ]
    NP_061313.2. NM_018833.2. [Q03519-2 ]
    UniGenei Hs.502.

    3D structure databases

    ProteinModelPortali Q03519.
    SMRi Q03519. Positions 140-685.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112754. 13 interactions.
    DIPi DIP-322N.
    IntActi Q03519. 7 interactions.
    MINTi MINT-2838244.
    STRINGi 9606.ENSP00000372726.

    Protein family/group databases

    TCDBi 3.A.1.209.1. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei Q03519.

    Polymorphism databases

    DMDMi 549044.

    Proteomic databases

    MaxQBi Q03519.
    PaxDbi Q03519.
    PRIDEi Q03519.

    Protocols and materials databases

    DNASUi 6891.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000374897 ; ENSP00000364032 ; ENSG00000204267 . [Q03519-1 ]
    ENST00000374899 ; ENSP00000364034 ; ENSG00000204267 . [Q03519-2 ]
    ENST00000383118 ; ENSP00000372599 ; ENSG00000206235 . [Q03519-1 ]
    ENST00000383119 ; ENSP00000372600 ; ENSG00000206235 . [Q03519-2 ]
    ENST00000383239 ; ENSP00000372726 ; ENSG00000206299 . [Q03519-1 ]
    ENST00000383240 ; ENSP00000372727 ; ENSG00000206299 . [Q03519-2 ]
    ENST00000414145 ; ENSP00000401377 ; ENSG00000228582 . [Q03519-2 ]
    ENST00000419142 ; ENSP00000390013 ; ENSG00000237599 .
    ENST00000426977 ; ENSP00000387553 ; ENSG00000232326 . [Q03519-2 ]
    ENST00000439425 ; ENSP00000396156 ; ENSG00000225967 . [Q03519-2 ]
    ENST00000443713 ; ENSP00000394101 ; ENSG00000228582 . [Q03519-1 ]
    ENST00000451907 ; ENSP00000392172 ; ENSG00000223481 . [Q03519-2 ]
    GeneIDi 6891.
    KEGGi hsa:6891.
    UCSCi uc003occ.3. human. [Q03519-1 ]

    Organism-specific databases

    CTDi 6891.
    GeneCardsi GC06M032789.
    GC06Mi32773.
    GC06Mj32703.
    GC06Mk32767.
    GC06Ml32943.
    GC06Mm32815.
    GC06Mn32718.
    GC06Mo32879.
    H-InvDB HIX0005757.
    HIX0166631.
    HIX0166883.
    HIX0167147.
    HGNCi HGNC:44. TAP2.
    HPAi HPA001312.
    MIMi 170261. gene.
    604571. phenotype.
    neXtProti NX_Q03519.
    Orphaneti 34592. Immunodeficiency by defective expression of HLA class 1.
    PharmGKBi PA35022.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1132.
    HOVERGENi HBG008358.
    InParanoidi Q03519.
    KOi K05654.
    OMAi LINDIAM.
    PhylomeDBi Q03519.
    TreeFami TF105197.

    Enzyme and pathway databases

    BRENDAi 3.6.3.43. 2681.
    Reactomei REACT_111178. ER-Phagosome pathway.
    REACT_75795. Antigen Presentation: Folding, assembly and peptide loading of class I MHC.

    Miscellaneous databases

    GeneWikii TAP2.
    GenomeRNAii 6891.
    NextBioi 26929.
    PROi Q03519.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q03519.
    Bgeei Q03519.
    CleanExi HS_TAP2.
    Genevestigatori Q03519.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR013306. ABC_B3.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR005293. Ag_transporter2.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF00664. ABC_membrane. 1 hit.
    PF00005. ABC_tran. 1 hit.
    [Graphical view ]
    PRINTSi PR01897. TAP2PROTEIN.
    SMARTi SM00382. AAA. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    SSF90123. SSF90123. 1 hit.
    TIGRFAMsi TIGR00958. 3a01208. 1 hit.
    PROSITEi PS50929. ABC_TM1F. 1 hit.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 1 hit.
    [Graphical view ]
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    Publicationsi

    1. "DNA sequence analysis of 66 kb of the human MHC class II region encoding a cluster of genes for antigen processing."
      Beck S., Kelly A., Radley E., Khurshid F., Alderton R.P., Trowsdale J.
      J. Mol. Biol. 228:433-441(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE TAP2*01:01) (ISOFORM 1).
    2. "Polymorphism in a second ABC transporter gene located within the class II region of the human major histocompatibility complex."
      Powis S.H., Mockridge I., Kelly A., Kerr L.-A., Glynne R.J., Gileadi U., Beck S., Trowsdale J.
      Proc. Natl. Acad. Sci. U.S.A. 89:1463-1467(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE TAP2*01:01/TAP2*02:01) (ISOFORM 1).
    3. "Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region."
      Bahram S., Arnold D., Bresnahan M., Strominger J.L., Spies T.
      Proc. Natl. Acad. Sci. U.S.A. 88:10094-10098(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE TAP2*02:01) (ISOFORM 1).
    4. "Alleles and haplotypes of the MHC-encoded ABC transporters TAP1 and TAP2."
      Powis S.H., Tonks S., Mockridge I., Kelly A.P., Bodmer J.G., Trowsdale J.
      Immunogenetics 37:373-380(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE TAP2*01:02) (ISOFORM 1).
    5. "Association of a new allele of the TAP2 gene, TAP2*Bky2 (Val577), with susceptibility to Sjogren's syndrome."
      Kumagai S., Kanagawa S., Morinobu A., Takada M., Nakamura K., Sugai S., Maruya E., Saji H.
      Arthritis Rheum. 40:1685-1692(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE TAP2*BKY2) (ISOFORM 1), VARIANT TAP2*BKY2 VAL-577.
      Tissue: Blood.
    6. "Novel splicing of the human MHC-encoded peptide transporter confers unique properties."
      Yan G., Shi L., Faustman D.
      J. Immunol. 162:852-859(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT ILE-379.
      Tissue: Spleen.
    7. "Evolutionary dynamics of non-coding sequences within the class II region of the human MHC."
      Beck S., Abdulla S., Alderton R.P., Glynne R.J., Gut I.G., Hosking L.K., Jackson A., Kelly A., Newell W.R., Sanseau P., Radley E., Thorpe K.L., Trowsdale J.
      J. Mol. Biol. 255:1-13(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE TAP2*01:01) (ISOFORM 1).
    8. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ALLELE TAP2*BKY2) (ISOFORM 1).
      Tissue: Liver and Synovium.
    9. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ALLELES TAP2*03A AND TAP2*BKY2).
    10. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    11. "Novel human TAP2*103 allele shows further polymorphism in the ATP-binding domain."
      Cano P., Baxter-Lowe L.A.
      Tissue Antigens 45:139-142(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 65-686 (ALLELE TAP2*01:03) (ISOFORM 1).
      Tissue: Blood.
    12. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 204-686 (ISOFORM 1), VARIANTS THR-374 AND ILE-467.
    13. Singal D.P., Ye M., D'Souza M.
      Submitted (FEB-1993) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 517-645 (ALLELE TAP2*01:01/TAP2*01:02) (ISOFORM 1).
    14. "Polymorphisms in the TAP2 gene and their association with rheumatoid arthritis."
      Singal D.P., Ye M., Qiu X., D'Souza M.
      Clin. Exp. Rheumatol. 12:29-33(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 517-645 (ALLELE TAP2*01:01/TAP2*01:02) (ISOFORM 1).
    15. "Multiple regions of the transporter associated with antigen processing (TAP) contribute to its peptide binding site."
      Nijenhuis M., Hammerling G.J.
      J. Immunol. 157:5467-5477(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: PEPTIDE-BINDING SITE.
    16. "Molecular mechanism and species specificity of TAP inhibition by herpes simplex virus ICP47."
      Ahn K., Meyer T.H., Uebel S., Sempe P., Djaballah H., Yang Y., Peterson P.A., Frueh K., Tampe R.
      EMBO J. 15:3247-3255(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: INHIBITION BY ICP47.
    17. "The ER-luminal domain of the HCMV glycoprotein US6 inhibits peptide translocation by TAP."
      Ahn K., Gruhler A., Galocha B., Jones T.R., Wiertz E.J.H.J., Ploegh H.L., Peterson P.A., Yang Y., Frueh K.
      Immunity 6:613-621(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: INHIBITION BY US6 GLYCOPROTEIN.
    18. "The human cytomegalovirus gene product US6 inhibits ATP binding by TAP."
      Hewitt E.W., Gupta S.S., Lehner P.J.
      EMBO J. 20:387-396(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INHIBITION BY US6 GLYCOPROTEIN.
    19. "Adenovirus E19 has two mechanisms for affecting class I MHC expression."
      Bennett E.M., Bennink J.R., Yewdell J.W., Brodsky F.M.
      J. Immunol. 162:5049-5052(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INHIBITION BY E3-19K GLYCOPROTEIN.
    20. "Specific targeting of the EBV lytic phase protein BNLF2a to the transporter associated with antigen processing results in impairment of HLA class I-restricted antigen presentation."
      Horst D., van Leeuwen D., Croft N.P., Garstka M.A., Hislop A.D., Kremmer E., Rickinson A.B., Wiertz E.J.H.J., Ressing M.E.
      J. Immunol. 182:2313-2324(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH EBV BNLF2A.
    21. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    22. "Allelic variants of the human putative peptide transporter involved in antigen processing."
      Colonna M., Bresnahan M., Bahram S., Strominger J.L., Spies T.
      Proc. Natl. Acad. Sci. U.S.A. 89:3932-3936(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ILE-379 AND ALA-665.
    23. Cited for: INVOLVEMENT IN BLS1.
    24. "Genotyping TAP2 variants in North American Caucasians, Brazilians, and Africans."
      Tang J., Freedman D.O., Allen S., Karita E., Musonda R., Braga C., Jamieson B.D., Louie L., Kaslow R.A.
      Genes Immun. 2:32-40(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS THR-374; ILE-379; ILE-467; SER-513 THR-565; CYS-651; ALA-665 AND GLN-GLU-GLY-GLN-ASP-LEU-TYR-SER-ARG-LEU-VAL-GLN-GLN-ARG-LEU-MET-ASP-686 INS, DEFINITION OF ALLELES.

    Entry informationi

    Entry nameiTAP2_HUMAN
    AccessioniPrimary (citable) accession number: Q03519
    Secondary accession number(s): B0V2J8
    , O95410, Q53FI6, Q5HY71, Q96PT8, Q9UQ83
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: June 1, 1994
    Last modified: October 1, 2014
    This is version 162 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

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