• Gene id: 6892

Gene Summary

• Gene Symbol: TAPBP   Gene   UCSC   Ensembl
• Aliases: NGS17, TAPA, TPN, TPSN
• Gene name: TAP binding protein
• Alternate names: tapasin, NGS-17, TAP binding protein (tapasin), TAP-associated protein,
• Gene location: 6p21.32 (33314386: 33299693)     Exons: 8     NC_000006.12
• Gene summary(Entrez): This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of
• OMIM: 601962

Protein Summary

• Protein general information: O15533  
  • Name: Tapasin (TPN) (TPSN) (NGS 17) (TAP associated protein) (TAP binding protein)
  • Length: 448  
  • Mass: 47626
  • Tissue specificity: Neutrophils, mostly in fully differentiated cells.
• Sequence:

  MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGAL
  QAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPV
  LITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLN
  GQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPRVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPAT
  LARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQ
  HGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE

• Structural information:
  • Protein Domains: (292..39-)
    (/note="Ig-like-C1-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003597  IPR008056  
  • Prosite: PS50835
  • PDB: 3F8U 6ENY
  • PDBsum: 3F8U 6ENY
  • STRING: ENSP00000404833
• Other Databases: GeneCards:  TAPBP  Malacards:  TAPBP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042824	MHC class I peptide loading complex	IDA	cellular component
GO:0002398	MHC class Ib protein complex assembly	IMP	biological process
GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015433	ATPase-coupled peptide antigen transmembrane transporter activity	TAS	molecular function
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0006955	immune response	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0061635	regulation of protein complex stability	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010468	regulation of gene expression	IMP	biological process
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:1990668	vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	TAS	biological process
GO:1990668	vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	TAS	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0015833	peptide transport	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0000139	Golgi membrane	IDA	cellular component
GO:0042824	MHC class I peptide loading complex	IDA	cellular component
GO:0065003	protein-containing complex assembly	IDA	biological process
GO:0062061	TAP complex binding	IDA	molecular function
GO:0046978	TAP1 binding	IPI	molecular function
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	NAS	biological process
GO:0051082	unfolded protein binding	TAS	molecular function
GO:0046979	TAP2 binding	IPI	molecular function
GO:0042605	peptide antigen binding	TAS	molecular function
GO:0046978	TAP1 binding	TAS	molecular function
GO:0042288	MHC class I protein binding	TAS	molecular function
GO:0050823	peptide antigen stabilization	ISS	biological process
GO:0046979	TAP2 binding	TAS	molecular function
GO:0042824	MHC class I peptide loading complex	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05169	Epstein-Barr virus infection
hsa04612	Antigen processing and presentation

Diseases

Associated diseases	References
Bare lymphocyte syndrome type1	KEGG:H00984
Bare lymphocyte syndrome type1	KEGG:H00984
severe combined immunodeficiency	PMID:12149238
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray