ENSG00000231925


Homo sapiens

Features
Gene ID: ENSG00000231925
  
Biological name :TAPBP
  
Synonyms : O15533 / TAP binding protein / TAPBP
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p21.32
Gene start: 33299694
Gene end: 33314387
  
Corresponding Affymetrix probe sets: 1555565_s_at (Human Genome U133 Plus 2.0 Array)   208829_at (Human Genome U133 Plus 2.0 Array)   210294_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000417949
Ensembl peptide - ENSP00000395701
Ensembl peptide - ENSP00000419659
Ensembl peptide - ENSP00000387803
Ensembl peptide - ENSP00000417523
Ensembl peptide - ENSP00000404833
NCBI entrez gene - 6892     See in Manteia.
OMIM - 601962
RefSeq - XM_017011227
RefSeq - NM_003190
RefSeq - NM_172208
RefSeq - NM_172209
RefSeq - XM_011514828
RefSeq Peptide - NP_757345
RefSeq Peptide - NP_757346
RefSeq Peptide - NP_003181
swissprot - A2AB90
swissprot - A0A0A0MT98
swissprot - A0A0A0MSV9
swissprot - O15533
swissprot - A0A024RCT1
swissprot - Q6P1N7
swissprot - C9JA35
Ensembl - ENSG00000231925
  
Related genetic diseases (OMIM): 604571 - Bare lymphocyte syndrome, type I, 604571
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tapbp.1ENSDARG00000079402Danio rerio
 tapbp.2ENSDARG00000045011Danio rerio
 TAPBPENSGALG00000008022Gallus gallus
 TapbpENSMUSG00000024308Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9BX59 / TAPBPL / TAP binding protein likeENSG0000013919219


Protein motifs (from Interpro)
Interpro ID Name
 IPR003597  Immunoglobulin C1-set
 IPR007110  Immunoglobulin-like domain
 IPR008056  Tapasin
 IPR013783  Immunoglobulin-like fold
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002397 MHC class I protein complex assembly IEA
 biological_processGO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS
 biological_processGO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
 biological_processGO:0006890 retrograde vesicle-mediated transport, Golgi to ER NAS
 biological_processGO:0006955 immune response TAS
 biological_processGO:0010468 regulation of gene expression IMP
 biological_processGO:0015833 peptide transport IEA
 biological_processGO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I IEA
 biological_processGO:0042886 amide transport IEA
 biological_processGO:0050823 peptide antigen stabilization ISS
 biological_processGO:0061635 regulation of protein complex stability IDA
 biological_processGO:0065003 protein-containing complex assembly TAS
 biological_processGO:1990668 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane TAS
 cellular_componentGO:0000139 Golgi membrane IDA
 cellular_componentGO:0005783 endoplasmic reticulum TAS
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030670 phagocytic vesicle membrane TAS
 cellular_componentGO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane TAS
 cellular_componentGO:0042824 MHC class I peptide loading complex IEA
 cellular_componentGO:0042825 TAP complex IDA
 cellular_componentGO:0071556 integral component of lumenal side of endoplasmic reticulum membrane TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015433 peptide antigen-transporting ATPase activity TAS
 molecular_functionGO:0042288 MHC class I protein binding TAS
 molecular_functionGO:0042605 peptide antigen binding TAS
 molecular_functionGO:0046978 TAP1 binding TAS
 molecular_functionGO:0046979 TAP2 binding TAS
 molecular_functionGO:0051082 unfolded protein binding TAS


Pathways (from Reactome)
Pathway description
ER-Phagosome pathway
Antigen Presentation: Folding, assembly and peptide loading of class I MHC


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000389 Chronic otitis media 
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 HP:0001083 Ectopia lentis 
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 HP:0002097 Emphysema 
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 HP:0002110 Bronchiectasis 
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 HP:0002837 Bronchitis 
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 HP:0011109 Chronic sinusitis "A chronic form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0011950 Bronchiolitis "Inflammation of the `bronchioles` (FMA:76497)." [DDD:tkuijpers]
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 HP:0100582 Nasal polyposis "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." [HPO:sdoelken]
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000179218 CALR / P27797 / calreticulin  / reaction
 ENSG00000168394 TAP1 / Q03518 / transporter 1, ATP binding cassette subfamily B member  / reaction
 ENSG00000204267 TAP2 / Q03519 / transporter 2, ATP binding cassette subfamily B member  / reaction
 ENSG00000265808 O75396 / SEC22B / SEC22 homolog B, vesicle trafficking protein (gene/pseudogene)  / reaction






 

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© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr