ENSG00000168394


Homo sapiens

Features
Gene ID: ENSG00000168394
  
Biological name :TAP1
  
Synonyms : Q03518 / TAP1 / transporter 1, ATP binding cassette subfamily B member
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p21.32
Gene start: 32845209
Gene end: 32853978
  
Corresponding Affymetrix probe sets: 202307_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000346206
Ensembl peptide - ENSP00000494148
NCBI entrez gene - 6890     See in Manteia.
OMIM - 170260
RefSeq - NM_001292022
RefSeq - NM_000593
RefSeq Peptide - NP_000584
RefSeq Peptide - NP_001278951
swissprot - Q03518
swissprot - A0A0S2Z5A6
swissprot - A0A0S2Z4R8
Ensembl - ENSG00000168394
  
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
 tap1ENSDARG00000079766Danio rerio
 TAP1ENSGALG00000035075Gallus gallus
 Tap1ENSMUSG00000037321Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ABCB9 / Q9NP78 / ATP binding cassette subfamily B member 9ENSG0000015096734
TAP2 / Q03519 / transporter 2, ATP binding cassette subfamily B memberENSG0000020426732
AL669918.1ENSG0000025026431
ABCB10 / Q9NRK6 / ATP binding cassette subfamily B member 10ENSG0000013577627
ABCB8 / Q9NUT2 / ATP binding cassette subfamily B member 8ENSG0000019715025


Protein motifs (from Interpro)
Interpro ID Name
 IPR003439  ABC transporter-like
 IPR003593  AAA+ ATPase domain
 IPR011527  ABC transporter type 1, transmembrane domain
 IPR013305  ABC transporter Tap-like
 IPR013306  Antigen peptide transporter 1
 IPR017871  ABC transporter, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036640  ABC transporter type 1, transmembrane domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002250 adaptive immune response IEA
 biological_processGO:0002376 immune system process 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:0006952 defense response IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0015833 peptide transport IEA
 biological_processGO:0016032 viral process 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:0046967 cytosol to ER transport IMP
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:1990668 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane TAS
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005815 microtubule organizing center IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0016021 integral component of membrane IDA
 cellular_componentGO:0030176 integral component of endoplasmic reticulum membrane IEA
 cellular_componentGO:0030670 phagocytic vesicle membrane TAS
 cellular_componentGO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane TAS
 cellular_componentGO:0042825 TAP complex IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0015440 peptide-transporting ATPase activity IEA
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0023029 MHC class Ib protein binding IPI
 molecular_functionGO:0042287 MHC protein binding IEA
 molecular_functionGO:0042288 MHC class I protein binding IEA
 molecular_functionGO:0042605 peptide antigen binding NAS
 molecular_functionGO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA
 molecular_functionGO:0042803 protein homodimerization activity ISS
 molecular_functionGO:0043531 ADP binding IDA
 molecular_functionGO:0046978 TAP1 binding ISS
 molecular_functionGO:0046979 TAP2 binding IEA


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
 ENSG00000204267 TAP2 / Q03519 / transporter 2, ATP binding cassette subfamily B member  / complex
 ENSG00000231925 TAPBP / O15533 / TAP binding protein  / reaction
 ENSG00000265808 O75396 / SEC22B / SEC22 homolog B, vesicle trafficking protein (gene/pseudogene)  / reaction






 

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