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Protein

Tapasin

Gene

TAPBP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei428May be involved in interaction with TAP1

GO - Molecular functioni

  • MHC class I protein binding Source: UniProtKB
  • peptide antigen binding Source: UniProtKB
  • peptide antigen-transporting ATPase activity Source: ProtInc
  • TAP1 binding Source: UniProtKB
  • TAP2 binding Source: UniProtKB
  • unfolded protein binding Source: UniProtKB

GO - Biological processi

  • antigen processing and presentation of endogenous peptide antigen via MHC class I Source: InterPro
  • antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
  • immune response Source: ProtInc
  • peptide antigen stabilization Source: UniProtKB
  • protein complex assembly Source: ProtInc
  • regulation of gene expression Source: AgBase
  • regulation of protein complex stability Source: AgBase
  • retrograde vesicle-mediated transport, Golgi to ER Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112493-MONOMER.
ReactomeiR-HSA-1236974. ER-Phagosome pathway.
R-HSA-983170. Antigen Presentation: Folding, assembly and peptide loading of class I MHC.

Names & Taxonomyi

Protein namesi
Recommended name:
Tapasin
Short name:
TPN
Short name:
TPSN
Alternative name(s):
NGS-17
TAP-associated protein
TAP-binding protein
Gene namesi
Name:TAPBP
Synonyms:NGS17, TAPA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:11566. TAPBP.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini21 – 414LumenalSequence analysisAdd BLAST394
Transmembranei415 – 435HelicalSequence analysisAdd BLAST21
Topological domaini436 – 448CytoplasmicSequence analysisAdd BLAST13

GO - Cellular componenti

  • endoplasmic reticulum Source: ProtInc
  • endoplasmic reticulum membrane Source: UniProtKB
  • Golgi membrane Source: UniProtKB
  • integral component of lumenal side of endoplasmic reticulum membrane Source: Reactome
  • integral component of membrane Source: ProtInc
  • MHC class I peptide loading complex Source: UniProtKB
Complete GO annotation...

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

DisGeNETi6892.
MalaCardsiTAPBP.
MIMi604571. phenotype.
OpenTargetsiENSG00000112493.
ENSG00000206281.
ENSG00000236490.
Orphaneti34592. Immunodeficiency by defective expression of HLA class 1.
PharmGKBiPA36331.

Polymorphism and mutation databases

BioMutaiTAPBP.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Combined sourcesAdd BLAST20
ChainiPRO_000001499021 – 448TapasinAdd BLAST428

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi27 ↔ 91PROSITE-ProRule annotation1 Publication
Disulfide bondi115Interchain (with C-57 in PDIA3)PROSITE-ProRule annotation1 Publication
Glycosylationi253N-linked (GlcNAc...)2 Publications1
Disulfide bondi315 ↔ 382PROSITE-ProRule annotation1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiO15533.
PaxDbiO15533.
PeptideAtlasiO15533.
PRIDEiO15533.
TopDownProteomicsiO15533-3. [O15533-3]

PTM databases

iPTMnetiO15533.
PhosphoSitePlusiO15533.

Expressioni

Tissue specificityi

Neutrophils, mostly in fully differentiated cells.

Gene expression databases

BgeeiENSG00000112493.
ExpressionAtlasiO15533. baseline and differential.
GenevisibleiO15533. HS.

Organism-specific databases

HPAiHPA007066.

Interactioni

Subunit structurei

Heterodimer with PDIA3; disulfide-linked. Interacts with TAP1 and is thus a subunit of the TAP complex, also known as the peptide loading complex (PLC). Interaction with TAP1 is TAP2-independent and is required for efficient peptide-TAP interaction. Obligatory mediator for the interaction between newly assembled MHC class I molecules, calreticulin, PDIA3 and TAP. Up to 4 MHC class I/tapasin complexes bind to 1 TAP.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
BNLF2aP0C7396EBI-874801,EBI-9346744From a different organism.
gNQ77CE42EBI-874801,EBI-11303846From a different organism.
TAP1Q0351814EBI-874801,EBI-747259
TAP2Q035198EBI-874801,EBI-780781

GO - Molecular functioni

  • MHC class I protein binding Source: UniProtKB
  • TAP1 binding Source: UniProtKB
  • TAP2 binding Source: UniProtKB
  • unfolded protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi112755. 14 interactors.
IntActiO15533. 12 interactors.
MINTiMINT-4053688.
STRINGi9606.ENSP00000404833.

Structurei

Secondary structure

1448
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi23 – 29Combined sources7
Beta strandi41 – 46Combined sources6
Beta strandi65 – 69Combined sources5
Helixi74 – 81Combined sources8
Beta strandi90 – 96Combined sources7
Helixi104 – 109Combined sources6
Beta strandi112 – 116Combined sources5
Helixi117 – 119Combined sources3
Beta strandi123 – 129Combined sources7
Beta strandi134 – 141Combined sources8
Beta strandi148 – 150Combined sources3
Beta strandi153 – 164Combined sources12
Beta strandi169 – 171Combined sources3
Beta strandi176 – 178Combined sources3
Beta strandi181 – 184Combined sources4
Beta strandi203 – 210Combined sources8
Beta strandi213 – 220Combined sources8
Beta strandi236 – 242Combined sources7
Beta strandi250 – 258Combined sources9
Helixi263 – 265Combined sources3
Beta strandi267 – 275Combined sources9
Beta strandi278 – 290Combined sources13
Beta strandi293 – 300Combined sources8
Beta strandi313 – 323Combined sources11
Beta strandi327 – 337Combined sources11
Beta strandi345 – 349Combined sources5
Beta strandi360 – 367Combined sources8
Helixi373 – 375Combined sources3
Beta strandi379 – 385Combined sources7
Beta strandi394 – 399Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3F8UX-ray2.60B/D1-401[»]
ProteinModelPortaliO15533.
SMRiO15533.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO15533.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini292 – 399Ig-like C1-typeAdd BLAST108

Domaini

The N-terminus is required for efficient association with MHC class I molecule and for a stable interaction between MHC I and calreticulin. Binding to TAP is mediated by the C-terminal region.1 Publication

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410II43. Eukaryota.
ENOG4111QPK. LUCA.
HOVERGENiHBG005156.
InParanoidiO15533.
KOiK08058.
OMAiYLATVHL.
OrthoDBiEOG091G0ATU.
PhylomeDBiO15533.
TreeFamiTF334274.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003597. Ig_C1-set.
IPR008056. Tapasin.
[Graphical view]
PfamiPF07654. C1-set. 1 hit.
[Graphical view]
PRINTSiPR01669. TAPASIN.
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O15533-1) [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

        10         20         30         40         50
MKSLSLLLAV ALGLATAVSA GPAVIECWFV EDASGKGLAK RPGALLLRQG
60 70 80 90 100
PGEPPPRPDL DPELYLSVHD PAGALQAAFR RYPRGAPAPH CEMSRFVPLP
110 120 130 140 150
ASAKWASGLT PAQNCPRALD GAWLMVSISS PVLSLSSLLR PQPEPQQEPV
160 170 180 190 200
LITMATVVLT VLTHTPAPRV RLGQDALLDL SFAYMPPTSE AASSLAPGPP
210 220 230 240 250
PFGLEWRRQH LGKGHLLLAA TPGLNGQMPA AQEGAVAFAA WDDDEPWGPW
260 270 280 290 300
TGNGTFWLPR VQPFQEGTYL ATIHLPYLQG QVTLELAVYK PPKVSLMPAT
310 320 330 340 350
LARAAPGEAP PELLCLVSHF YPSGGLEVEW ELRGGPGGRS QKAEGQRWLS
360 370 380 390 400
ALRHHSDGSV SLSGHLQPPP VTTEQHGARY ACRIHHPSLP ASGRSAEVTL
410 420 430 440
EVAGLSGPSL EDSVGLFLSA FLLLGLFKAL GWAAVYLSTC KDSKKKAE
Length:448
Mass (Da):47,626
Last modified:January 1, 1998 - v1
Checksum:i7340549519B288AD
GO
Isoform 2 (identifier: O15533-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     405-448: LSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE → KSWELCGI

Note: Due to a partial intron retention.
Show »
Length:412
Mass (Da):43,885
Checksum:iE50E3F41AD7E7EA8
GO
Isoform 3 (identifier: O15533-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     446-448: KAE → VQCSTSLYLSLVTLSPHPISKPMEGGCWCGRQNLGLEFTLIWVKTWHYILTVGLFEHAT

Note: No experimental confirmation available.
Show »
Length:504
Mass (Da):53,943
Checksum:iBEF063064284DE16
GO
Isoform 4 (identifier: O15533-4) [UniParc]FASTAAdd to basket
Also known as: tpsnDeltaEx3

The sequence of this isoform differs from the canonical sequence as follows:
     70-156: Missing.

Show »
Length:361
Mass (Da):38,365
Checksum:iE049AA2C6F0B4DED
GO

Sequence cautioni

The sequence AAD32924 differs from that shown. Probable cloning artifact.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti274H → Y in AAH80574 (PubMed:15489334).Curated1
Sequence conflicti296L → P in ACD68200 (PubMed:20600451).Curated1
Sequence conflicti412D → N in AAD32924 (PubMed:14668790).Curated1

Polymorphismi

The 2 alleles of TAPBP; TAPBP*01 (Tapasin*01) (shown here) and TAPBP*02 (Tapasin*02); are in linkage disequilibria with the HLA-DRB1 locus in a Japanese population.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010253260R → T in allele TAPBP*02. 3 PublicationsCorresponds to variant rs2071888dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04445570 – 156Missing in isoform 4. 1 PublicationAdd BLAST87
Alternative sequenceiVSP_002577405 – 448LSGPS…KKKAE → KSWELCGI in isoform 2. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_017055446 – 448KAE → VQCSTSLYLSLVTLSPHPIS KPMEGGCWCGRQNLGLEFTL IWVKTWHYILTVGLFEHAT in isoform 3. 1 Publication3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y13582 mRNA. Translation: CAA73909.1.
AF009510 mRNA. Translation: AAC20076.1.
AB010639 mRNA. Translation: BAA28757.1.
AB012622 Genomic DNA. Translation: BAA28758.1.
AB012920 Genomic DNA. Translation: BAA28759.1.
AF029750 mRNA. Translation: AAB82949.1.
AF067286 mRNA. Translation: AAD32924.2. Sequence problems.
AF314222 mRNA. Translation: AAG33061.1.
EU693375 mRNA. Translation: ACD68200.1.
BX248088 Genomic DNA. Translation: CAI41784.1.
AL662827 Genomic DNA. Translation: CAM24888.1.
AL662820 Genomic DNA. Translation: CAM25472.1.
BX248088 Genomic DNA. Translation: CAM25703.1.
CR759817 Genomic DNA. Translation: CAQ08029.1.
CR759817 Genomic DNA. Translation: CAQ08031.1.
CR759786 Genomic DNA. Translation: CAQ08259.1.
CR759786 Genomic DNA. Translation: CAQ08261.1.
Z97183 Genomic DNA. No translation available.
Z97184 Genomic DNA. No translation available.
CH471081 Genomic DNA. Translation: EAX03717.1.
BC080574 mRNA. Translation: AAH80574.1.
CCDSiCCDS34426.1. [O15533-1]
CCDS34427.2. [O15533-4]
CCDS34428.2. [O15533-3]
RefSeqiNP_003181.3. NM_003190.4.
NP_757345.2. NM_172208.2.
NP_757346.2. NM_172209.2.
UniGeneiHs.370937.

Genome annotation databases

EnsembliENST00000374572; ENSP00000363700; ENSG00000112493. [O15533-1]
ENST00000383066; ENSP00000372543; ENSG00000206208.
ENST00000383197; ENSP00000372684; ENSG00000206281. [O15533-3]
ENST00000383198; ENSP00000372685; ENSG00000206281. [O15533-1]
ENST00000395114; ENSP00000378546; ENSG00000112493. [O15533-3]
ENST00000417059; ENSP00000402087; ENSG00000236490. [O15533-1]
ENST00000434618; ENSP00000395701; ENSG00000231925.
ENST00000456807; ENSP00000407195; ENSG00000236490. [O15533-3]
GeneIDi6892.
KEGGihsa:6892.
UCSCiuc003odx.3. human. [O15533-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

TAPBPbase

TAPBP mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y13582 mRNA. Translation: CAA73909.1.
AF009510 mRNA. Translation: AAC20076.1.
AB010639 mRNA. Translation: BAA28757.1.
AB012622 Genomic DNA. Translation: BAA28758.1.
AB012920 Genomic DNA. Translation: BAA28759.1.
AF029750 mRNA. Translation: AAB82949.1.
AF067286 mRNA. Translation: AAD32924.2. Sequence problems.
AF314222 mRNA. Translation: AAG33061.1.
EU693375 mRNA. Translation: ACD68200.1.
BX248088 Genomic DNA. Translation: CAI41784.1.
AL662827 Genomic DNA. Translation: CAM24888.1.
AL662820 Genomic DNA. Translation: CAM25472.1.
BX248088 Genomic DNA. Translation: CAM25703.1.
CR759817 Genomic DNA. Translation: CAQ08029.1.
CR759817 Genomic DNA. Translation: CAQ08031.1.
CR759786 Genomic DNA. Translation: CAQ08259.1.
CR759786 Genomic DNA. Translation: CAQ08261.1.
Z97183 Genomic DNA. No translation available.
Z97184 Genomic DNA. No translation available.
CH471081 Genomic DNA. Translation: EAX03717.1.
BC080574 mRNA. Translation: AAH80574.1.
CCDSiCCDS34426.1. [O15533-1]
CCDS34427.2. [O15533-4]
CCDS34428.2. [O15533-3]
RefSeqiNP_003181.3. NM_003190.4.
NP_757345.2. NM_172208.2.
NP_757346.2. NM_172209.2.
UniGeneiHs.370937.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3F8UX-ray2.60B/D1-401[»]
ProteinModelPortaliO15533.
SMRiO15533.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112755. 14 interactors.
IntActiO15533. 12 interactors.
MINTiMINT-4053688.
STRINGi9606.ENSP00000404833.

PTM databases

iPTMnetiO15533.
PhosphoSitePlusiO15533.

Polymorphism and mutation databases

BioMutaiTAPBP.

Proteomic databases

MaxQBiO15533.
PaxDbiO15533.
PeptideAtlasiO15533.
PRIDEiO15533.
TopDownProteomicsiO15533-3. [O15533-3]

Protocols and materials databases

DNASUi6892.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374572; ENSP00000363700; ENSG00000112493. [O15533-1]
ENST00000383066; ENSP00000372543; ENSG00000206208.
ENST00000383197; ENSP00000372684; ENSG00000206281. [O15533-3]
ENST00000383198; ENSP00000372685; ENSG00000206281. [O15533-1]
ENST00000395114; ENSP00000378546; ENSG00000112493. [O15533-3]
ENST00000417059; ENSP00000402087; ENSG00000236490. [O15533-1]
ENST00000434618; ENSP00000395701; ENSG00000231925.
ENST00000456807; ENSP00000407195; ENSG00000236490. [O15533-3]
GeneIDi6892.
KEGGihsa:6892.
UCSCiuc003odx.3. human. [O15533-1]

Organism-specific databases

CTDi6892.
DisGeNETi6892.
GeneCardsiTAPBP.
H-InvDBHIX0058157.
HIX0166135.
HIX0166410.
HGNCiHGNC:11566. TAPBP.
HPAiHPA007066.
MalaCardsiTAPBP.
MIMi601962. gene.
604571. phenotype.
neXtProtiNX_O15533.
OpenTargetsiENSG00000112493.
ENSG00000206281.
ENSG00000236490.
Orphaneti34592. Immunodeficiency by defective expression of HLA class 1.
PharmGKBiPA36331.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II43. Eukaryota.
ENOG4111QPK. LUCA.
HOVERGENiHBG005156.
InParanoidiO15533.
KOiK08058.
OMAiYLATVHL.
OrthoDBiEOG091G0ATU.
PhylomeDBiO15533.
TreeFamiTF334274.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112493-MONOMER.
ReactomeiR-HSA-1236974. ER-Phagosome pathway.
R-HSA-983170. Antigen Presentation: Folding, assembly and peptide loading of class I MHC.

Miscellaneous databases

ChiTaRSiTAPBP. human.
EvolutionaryTraceiO15533.
GeneWikiiTapasin.
GenomeRNAii6892.
PROiO15533.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112493.
ExpressionAtlasiO15533. baseline and differential.
GenevisibleiO15533. HS.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003597. Ig_C1-set.
IPR008056. Tapasin.
[Graphical view]
PfamiPF07654. C1-set. 1 hit.
[Graphical view]
PRINTSiPR01669. TAPASIN.
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTPSN_HUMAN
AccessioniPrimary (citable) accession number: O15533
Secondary accession number(s): A2AB91
, A2ABC0, B0V003, B0V0A6, B2ZUA4, E9PGM2, O15210, O15272, Q5STJ8, Q5STK6, Q5STQ5, Q5STQ6, Q66K65, Q96KK7, Q9HAN8, Q9UEE0, Q9UEE4, Q9UIZ6, Q9Y6K2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: January 1, 1998
Last modified: November 2, 2016
This is version 167 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

3D-structure, Complete proteome, Direct protein sequencing, 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.