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Protein

Tapasin

Gene

TAPBP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • TAP complex binding Source: UniProtKB
  • unfolded protein binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000231925.11
HGNCiHGNC:11566 TAPBP
MIMi601962 gene
neXtProtiNX_O15533

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 domaini21 – 414LumenalSequence analysisAdd BLAST394
Transmembranei415 – 435HelicalSequence analysisAdd BLAST21
Topological domaini436 – 448CytoplasmicSequence analysisAdd BLAST13

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
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...) asparagine2 Publications1
Disulfide bondi315 ↔ 382PROSITE-ProRule annotation1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiO15533
MaxQBiO15533
PaxDbiO15533
PeptideAtlasiO15533
PRIDEiO15533
ProteomicsDBi48740
48741 [O15533-2]
48742 [O15533-3]
TopDownProteomicsiO15533-3 [O15533-3]

PTM databases

GlyConnecti1784
iPTMnetiO15533
PhosphoSitePlusiO15533

Expressioni

Tissue specificityi

Neutrophils, mostly in fully differentiated cells.

Gene expression databases

BgeeiENSG00000231925 Expressed in 222 organ(s), highest expression level in islet of Langerhans
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112755, 18 interactors
ComplexPortaliCPX-2375 Tapasin-ERp57 complex
IntActiO15533, 13 interactors
MINTiO15533
STRINGi9606.ENSP00000404833

Structurei

Secondary structure

1448
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410II43 Eukaryota
ENOG4111QPK LUCA
HOVERGENiHBG005156
InParanoidiO15533
KOiK08058
OrthoDBiEOG091G0ATU
PhylomeDBiO15533
TreeFamiTF334274

Family and domain databases

Gene3Di2.60.40.10, 3 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003597 Ig_C1-set
IPR008056 Tapasin
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
PRINTSiPR01669 TAPASIN
SUPFAMiSSF48726 SSF48726, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit

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

This entry has 4 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MSV9A0A0A0MSV9_HUMAN
Tapasin
TAPBP
504Annotation score:
A2AB90A2AB90_HUMAN
Tapasin
TAPBP
466Annotation score:
A0A0G2JH37A0A0G2JH37_HUMAN
Tapasin
TAPBP
466Annotation score:
A0A0G2JKZ1A0A0G2JKZ1_HUMAN
Tapasin
TAPBP
448Annotation score:
A0A0A0MT98A0A0A0MT98_HUMAN
Tapasin
TAPBP
361Annotation score:
C9JA35C9JA35_HUMAN
Tapasin
TAPBP
192Annotation score:
Q6P1N7Q6P1N7_HUMAN
TAPBP protein
TAPBP
156Annotation score:
A0A140T9B2A0A140T9B2_HUMAN
Tapasin
TAPBP
202Annotation score:
A0A0G2JJI5A0A0G2JJI5_HUMAN
Tapasin
TAPBP
202Annotation score:

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 dbSNP:rs2071888Ensembl.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
AL662820 Genomic DNA No translation available.
AL662827 Genomic DNA No translation available.
BX248088 Genomic DNA No translation available.
CR759786 Genomic DNA No translation available.
CR759817 Genomic DNA No translation available.
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

Similar proteinsi

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
AL662820 Genomic DNA No translation available.
AL662827 Genomic DNA No translation available.
BX248088 Genomic DNA No translation available.
CR759786 Genomic DNA No translation available.
CR759817 Genomic DNA No translation available.
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[»]
6ENYelectron microscopy5.80C21-448[»]
ProteinModelPortaliO15533
SMRiO15533
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112755, 18 interactors
ComplexPortaliCPX-2375 Tapasin-ERp57 complex
IntActiO15533, 13 interactors
MINTiO15533
STRINGi9606.ENSP00000404833

PTM databases

GlyConnecti1784
iPTMnetiO15533
PhosphoSitePlusiO15533

Polymorphism and mutation databases

BioMutaiTAPBP

Proteomic databases

EPDiO15533
MaxQBiO15533
PaxDbiO15533
PeptideAtlasiO15533
PRIDEiO15533
ProteomicsDBi48740
48741 [O15533-2]
48742 [O15533-3]
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
EuPathDBiHostDB:ENSG00000231925.11
GeneCardsiTAPBP
H-InvDBiHIX0058157
HIX0166135
HIX0166410
HGNCiHGNC:11566 TAPBP
HPAiHPA007066
MalaCardsiTAPBP
MIMi601962 gene
604571 phenotype
neXtProtiNX_O15533
Orphaneti34592 Immunodeficiency by defective expression of HLA class 1
PharmGKBiPA36331
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410II43 Eukaryota
ENOG4111QPK LUCA
HOVERGENiHBG005156
InParanoidiO15533
KOiK08058
OrthoDBiEOG091G0ATU
PhylomeDBiO15533
TreeFamiTF334274

Enzyme and pathway databases

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
PROiPR:O15533
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000231925 Expressed in 222 organ(s), highest expression level in islet of Langerhans
ExpressionAtlasiO15533 baseline and differential
GenevisibleiO15533 HS

Family and domain databases

Gene3Di2.60.40.10, 3 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003597 Ig_C1-set
IPR008056 Tapasin
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
PRINTSiPR01669 TAPASIN
SUPFAMiSSF48726 SSF48726, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: January 1, 1998
Last modified: November 7, 2018
This is version 183 of the entry and version 1 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, Direct protein sequencing, Reference proteome

Documents

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