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Protein

Antigen peptide transporter 1

Gene

TAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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. Expression of TAP1 is down-regulated by human Epstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum and subsequent peptide loading by MHC class I molecules.

Caution

It is uncertain whether Met-1 or Met-61 is the initiator.Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi598 – 605ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ADP binding Source: UniProtKB
  • ATP binding Source: UniProtKB
  • MHC class Ib protein binding Source: UniProtKB
  • MHC class I protein binding Source: Ensembl
  • peptide antigen binding Source: UniProtKB
  • peptide antigen-transporting ATPase activity Source: InterPro
  • peptide transmembrane transporter activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • TAP1 binding Source: UniProtKB
  • TAP2 binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processAdaptive immunity, Host-virus interaction, Immunity, Peptide transport, Protein transport, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi3.6.3.43 2681
ReactomeiR-HSA-1236974 ER-Phagosome pathway
R-HSA-983170 Antigen Presentation: Folding, assembly and peptide loading of class I MHC
SIGNORiQ03518

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Antigen peptide transporter 1
Short name:
APT1
Alternative name(s):
ATP-binding cassette sub-family B member 2
Peptide supply factor 1
Peptide transporter PSF1
Short name:
PSF-1
Peptide transporter TAP1
Peptide transporter involved in antigen processing 1
Really interesting new gene 4 protein
Gene namesi
Name:TAP1
Synonyms:ABCB2, PSF1, RING4, Y3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000168394.10
HGNCiHGNC:43 TAP1
MIMi170260 gene
neXtProtiNX_Q03518

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini61 – 75CytoplasmicSequence analysisAdd BLAST15
Transmembranei76 – 96Helical; Name=1PROSITE-ProRule annotationAdd BLAST21
Topological domaini97 – 113LumenalSequence analysisAdd BLAST17
Transmembranei114 – 136Helical; Name=2PROSITE-ProRule annotationAdd BLAST23
Topological domaini137 – 152CytoplasmicSequence analysisAdd BLAST16
Transmembranei153 – 173Helical; Name=3PROSITE-ProRule annotationAdd BLAST21
Topological domaini174 – 193LumenalSequence analysisAdd BLAST20
Transmembranei194 – 214Helical; Name=4PROSITE-ProRule annotationAdd BLAST21
Topological domaini215 – 246CytoplasmicSequence analysisAdd BLAST32
Transmembranei247 – 267Helical; Name=5PROSITE-ProRule annotationAdd BLAST21
Topological domaini268 – 287LumenalSequence analysisAdd BLAST20
Transmembranei288 – 308Helical; Name=6PROSITE-ProRule annotationAdd BLAST21
Topological domaini309 – 358CytoplasmicSequence analysisAdd BLAST50
Transmembranei359 – 379Helical; Name=7PROSITE-ProRule annotationAdd BLAST21
Topological domaini380 – 388LumenalSequence analysis9
Transmembranei389 – 409Helical; Name=8PROSITE-ProRule annotationAdd BLAST21
Topological domaini410 – 478CytoplasmicSequence analysisAdd BLAST69
Transmembranei479 – 499Helical; Name=9PROSITE-ProRule annotationAdd BLAST21
Topological domaini500 – 503LumenalSequence analysis4
Transmembranei504 – 524Helical; Name=10PROSITE-ProRule annotationAdd BLAST21
Topological domaini525 – 808CytoplasmicSequence analysisAdd BLAST284

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Bare lymphocyte syndrome 1 (BLS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:604571

Organism-specific databases

DisGeNETi6890
MalaCardsiTAP1
MIMi604571 phenotype
OpenTargetsiENSG00000168394
Orphaneti34592 Immunodeficiency by defective expression of HLA class 1
PharmGKBiPA35021

Chemistry databases

DrugBankiDB01259 Lapatinib

Polymorphism and mutation databases

BioMutaiTAP1
DMDMi215273957

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000933261 – 808Antigen peptide transporter 1Add BLAST808

Proteomic databases

EPDiQ03518
MaxQBiQ03518
PaxDbiQ03518
PeptideAtlasiQ03518
PRIDEiQ03518
ProteomicsDBi58214

PTM databases

iPTMnetiQ03518
PhosphoSitePlusiQ03518
SwissPalmiQ03518

Expressioni

Inductioni

By IFNG/IFN-gamma.

Gene expression databases

BgeeiENSG00000168394
CleanExiHS_TAP1
ExpressionAtlasiQ03518 baseline and differential
GenevisibleiQ03518 HS

Organism-specific databases

HPAiCAB009516
HPA072354

Interactioni

Subunit structurei

Heterodimer of TAP1 and TAP2. Interacts with PSMB5 and PSMB8.1 Publication
(Microbial infection) Interacts with Epstein-Barr virus BNLF2a.1 Publication
(Microbial infection) Interacts with herpes simplex virus ICP47.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • MHC class Ib protein binding Source: UniProtKB
  • MHC class I protein binding Source: Ensembl
  • protein homodimerization activity Source: UniProtKB
  • TAP1 binding Source: UniProtKB
  • TAP2 binding Source: UniProtKB

Protein-protein interaction databases

BioGridi112753, 45 interactors
DIPiDIP-35626N
IntActiQ03518, 52 interactors
MINTiQ03518
STRINGi9606.ENSP00000346206

Structurei

Secondary structure

1808
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi563 – 570Combined sources8
Beta strandi580 – 588Combined sources9
Beta strandi593 – 597Combined sources5
Helixi604 – 611Combined sources8
Beta strandi618 – 624Combined sources7
Helixi629 – 631Combined sources3
Helixi634 – 640Combined sources7
Beta strandi641 – 644Combined sources4
Beta strandi652 – 654Combined sources3
Helixi655 – 660Combined sources6
Helixi669 – 678Combined sources10
Helixi682 – 686Combined sources5
Helixi691 – 693Combined sources3
Beta strandi701 – 703Combined sources3
Helixi705 – 717Combined sources13
Beta strandi722 – 728Combined sources7
Turni729 – 732Combined sources4
Helixi735 – 746Combined sources12
Helixi749 – 753Combined sources5
Beta strandi755 – 759Combined sources5
Helixi763 – 767Combined sources5
Beta strandi770 – 776Combined sources7
Beta strandi779 – 784Combined sources6
Helixi786 – 792Combined sources7
Helixi795 – 800Combined sources6

3D structure databases

ProteinModelPortaliQ03518
SMRiQ03518
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ03518

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini247 – 530ABC transmembrane type-1PROSITE-ProRule annotationAdd BLAST284
Domaini563 – 802ABC transporterPROSITE-ProRule annotationAdd BLAST240

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni435 – 480Involved in peptide-binding siteAdd BLAST46
Regioni513 – 547Involved in peptide-binding siteAdd BLAST35

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0058 Eukaryota
COG1132 LUCA
GeneTreeiENSGT00550000074497
HOVERGENiHBG008358
InParanoidiQ03518
KOiK05653
OMAiQNQTGAI
OrthoDBiEOG09370VL2
PhylomeDBiQ03518
TreeFamiTF105197

Family and domain databases

Gene3Di1.20.1560.10, 1 hit
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR013305 ABC_Tap-like
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR027417 P-loop_NTPase
IPR013306 Tap1/ABCB2
PANTHERiPTHR24221:SF249 PTHR24221:SF249, 1 hit
PfamiView protein in Pfam
PF00664 ABC_membrane, 1 hit
PF00005 ABC_tran, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
SSF90123 SSF90123, 1 hit
TIGRFAMsiTIGR00958 3a01208, 1 hit
PROSITEiView protein in PROSITE
PS50929 ABC_TM1F, 1 hit
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 1 hit

Sequencei

Sequence statusi: Complete.

Q03518-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAELLASAGS ACSWDFPRAP PSFPPPAASR GGLGGTRSFR PHRGAESPRP
60 70 80 90 100
GRDRDGVRVP MASSRCPAPR GCRCLPGASL AWLGTVLLLL ADWVLLRTAL
110 120 130 140 150
PRIFSLLVPT ALPLLRVWAV GLSRWAVLWL GACGVLRATV GSKSENAGAQ
160 170 180 190 200
GWLAALKPLA AALGLALPGL ALFRELISWG APGSADSTRL LHWGSHPTAF
210 220 230 240 250
VVSYAAALPA AALWHKLGSL WVPGGQGGSG NPVRRLLGCL GSETRRLSLF
260 270 280 290 300
LVLVVLSSLG EMAIPFFTGR LTDWILQDGS ADTFTRNLTL MSILTIASAV
310 320 330 340 350
LEFVGDGIYN NTMGHVHSHL QGEVFGAVLR QETEFFQQNQ TGNIMSRVTE
360 370 380 390 400
DTSTLSDSLS ENLSLFLWYL VRGLCLLGIM LWGSVSLTMV TLITLPLLFL
410 420 430 440 450
LPKKVGKWYQ LLEVQVRESL AKSSQVAIEA LSAMPTVRSF ANEEGEAQKF
460 470 480 490 500
REKLQEIKTL NQKEAVAYAV NSWTTSISGM LLKVGILYIG GQLVTSGAVS
510 520 530 540 550
SGNLVTFVLY QMQFTQAVEV LLSIYPRVQK AVGSSEKIFE YLDRTPRCPP
560 570 580 590 600
SGLLTPLHLE GLVQFQDVSF AYPNRPDVLV LQGLTFTLRP GEVTALVGPN
610 620 630 640 650
GSGKSTVAAL LQNLYQPTGG QLLLDGKPLP QYEHRYLHRQ VAAVGQEPQV
660 670 680 690 700
FGRSLQENIA YGLTQKPTME EITAAAVKSG AHSFISGLPQ GYDTEVDEAG
710 720 730 740 750
SQLSGGQRQA VALARALIRK PCVLILDDAT SALDANSQLQ VEQLLYESPE
760 770 780 790 800
RYSRSVLLIT QHLSLVEQAD HILFLEGGAI REGGTHQQLM EKKGCYWAMV

QAPADAPE
Length:808
Mass (Da):87,218
Last modified:November 25, 2008 - v2
Checksum:i9CA5FF96FADD6A1B
GO

Sequence cautioni

The sequence CAA47025 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAA60785 differs from that shown. Reason: Erroneous initiation.Curated

Polymorphismi

There are five common alleles; TAP1*01:01 (PSF1A), TAP1*02:01 (PSF1B), TAP1*03:01 (PSF1C), TAP1*01:04 and TAP1*x. The sequence of TAP1*01:01 is shown here.5 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01680167P → S1 PublicationCorresponds to variant dbSNP:rs375389015Ensembl.1
Natural variantiVAR_01680277G → R1 PublicationCorresponds to variant dbSNP:rs57640466EnsemblClinVar.1
Natural variantiVAR_048137170L → V. Corresponds to variant dbSNP:rs2228108EnsemblClinVar.1
Natural variantiVAR_060987304V → L. Corresponds to variant dbSNP:rs36229525EnsemblClinVar.1
Natural variantiVAR_048138346S → F. Corresponds to variant dbSNP:rs2228111EnsemblClinVar.1
Natural variantiVAR_000092393I → V in allele TAP1*02:01, allele TAP1*03:01, allele TAP1*04:01 and allele TAP1*x. 4 PublicationsCorresponds to variant dbSNP:rs1057141EnsemblClinVar.1
Natural variantiVAR_013151430A → V in allele TAP1*x. 2 PublicationsCorresponds to variant dbSNP:rs2127679EnsemblClinVar.1
Natural variantiVAR_016803479G → C1 PublicationCorresponds to variant dbSNP:rs2228110EnsemblClinVar.1
Natural variantiVAR_013152518V → L in allele TAP1*04:01. 3 PublicationsCorresponds to variant dbSNP:rs41550019EnsemblClinVar.1
Natural variantiVAR_013153578V → I in allele TAP1*x. 1 PublicationCorresponds to variant dbSNP:rs41561219EnsemblClinVar.1
Natural variantiVAR_000093697D → G in allele TAP1*02:01, allele TAP1*04:01 and allele TAP1*x. 5 PublicationsCorresponds to variant dbSNP:rs1135216EnsemblClinVar.1
Natural variantiVAR_013154708R → Q in allele TAP1*04:01. 4 PublicationsCorresponds to variant dbSNP:rs1057149EnsemblClinVar.1
Natural variantiVAR_013173719R → Q in a lung cancer cell line deficient in MHC class I presentation. 1 PublicationCorresponds to variant dbSNP:rs121917702EnsemblClinVar.1
Natural variantiVAR_047514768Q → R. Corresponds to variant dbSNP:rs1057149EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X57522 mRNA Translation: CAA40741.1
X66401 Genomic DNA Translation: CAA47025.1 Different initiation.
X87344 Genomic DNA Translation: CAA60785.1 Different initiation.
AL669918 Genomic DNA No translation available.
AL671681 Genomic DNA No translation available.
AL935043 Genomic DNA No translation available.
BX927138 Genomic DNA No translation available.
CR762476 Genomic DNA No translation available.
CR933844 Genomic DNA No translation available.
CR753889 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03647.1
BC014081 mRNA Translation: AAH14081.1
L21204 mRNA Translation: AAC12902.1
L21205 mRNA Translation: AAC12903.1
L21206 mRNA Translation: AAC12904.1
L21207 mRNA Translation: AAC12905.1
L21208 mRNA Translation: AAC12906.1
X57521 mRNA Translation: CAA40740.1
S70274 mRNA Translation: AAD14056.1
CCDSiCCDS4758.1
PIRiS13427 A41538
RefSeqiNP_000584.2, NM_000593.5
NP_001278951.1, NM_001292022.1
UniGeneiHs.352018
Hs.731555

Genome annotation databases

EnsembliENST00000354258; ENSP00000346206; ENSG00000168394
ENST00000383235; ENSP00000372722; ENSG00000206297
ENST00000414467; ENSP00000405356; ENSG00000226173
ENST00000418205; ENSP00000401149; ENSG00000227816
ENST00000424897; ENSP00000413080; ENSG00000230705
ENST00000439781; ENSP00000415660; ENSG00000224212
ENST00000440894; ENSP00000402316; ENSG00000232367
GeneIDi6890
KEGGihsa:6890
UCSCiuc003ocg.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTAP1_HUMAN
AccessioniPrimary (citable) accession number: Q03518
Secondary accession number(s): Q16149, Q96CP4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 25, 2008
Last modified: July 18, 2018
This is version 198 of the entry and version 2 of the sequence. See 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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