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Aliases for TAP1 Gene

Aliases for TAP1 Gene

  • Transporter 1, ATP-Binding Cassette, Sub-Family B (MDR/TAP) 2 3
  • ABCB2 3 4 6
  • RING4 3 4 6
  • PSF1 3 4 6
  • Peptide Transporter Involved In Antigen Processing 1 3 4
  • ATP-Binding Cassette Sub-Family B Member 2 3 4
  • Really Interesting New Gene 4 Protein 3 4
  • Peptide Transporter PSF1 3 4
  • Peptide Transporter TAP1 3 4
  • Peptide Supply Factor 1 3 4
  • PSF-1 3 4
  • APT1 3 4
  • Transporter, ATP-Binding Cassette, Major Histocompatibility Complex, 1 3
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 2 3
  • Transporter Associated With Antigen Processing 3
  • Antigen Peptide Transporter 1 3
  • ABC Transporter, MHC 1 3
  • TAP1*0102N 3
  • D6S114E 3
  • ABC17 3
  • TAP1N 3
  • TAP1 6
  • Y3 4

External Ids for TAP1 Gene

Previous Symbols for TAP1 Gene

  • ABCB2

Summaries for TAP1 Gene

Entrez Gene Summary for TAP1 Gene

  • The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

GeneCards Summary for TAP1 Gene

TAP1 (Transporter 1, ATP-Binding Cassette, Sub-Family B (MDR/TAP)) is a Protein Coding gene. Diseases associated with TAP1 include spondylitis and capillary hemangioma. Among its related pathways are Class I MHC mediated antigen processing and presentation and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include protein homodimerization activity and ADP binding. An important paralog of this gene is ENSG00000250264.

UniProtKB/Swiss-Prot for TAP1 Gene

  • Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by human Epstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum and subsequent peptide loading by MHC class I molecules

Gene Wiki entry for TAP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAP1 Gene

Genomics for TAP1 Gene

Genomic Location for TAP1 Gene

Start:
32,845,209 bp from pter
End:
32,853,978 bp from pter
Size:
8,770 bases
Orientation:
Minus strand

Genomic View for TAP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for TAP1 Gene

Transcription factor binding sites by QIAGEN in the TAP1 gene promoter:

Proteins for TAP1 Gene

  • Protein details for TAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03518-TAP1_HUMAN
    Recommended name:
    Antigen peptide transporter 1
    Protein Accession:
    Q03518
    Secondary Accessions:
    • Q16149
    • Q96CP4

    Protein attributes for TAP1 Gene

    Size:
    808 amino acids
    Molecular mass:
    87218 Da
    Quaternary structure:
    • Heterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BNLF2a. Interacts with herpes simplex virus ICP47 (PubMed:7760936). Interacts with PSMB5 and PSMB8.
    SequenceCaution:
    • Sequence=CAA47025.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA60785.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TAP1 Gene

neXtProt entry for TAP1 Gene

Proteomics data for TAP1 Gene at MOPED

Post-translational modifications for TAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys449

Other Protein References for TAP1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TAP1 Gene

Domains for TAP1 Gene

Gene Families for TAP1 Gene

HGNC:
  • ABCB :ATP binding cassette transporters / subfamily B
IUPHAR :

UniProtKB/Swiss-Prot:

TAP1_HUMAN
Domain:
  • The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2:
    • Q03518
  • Contains 1 ABC transmembrane type-1 domain.:
    • Q03518
  • Contains 1 ABC transporter domain.:
    • Q03518
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily.:
    • Q03518
genes like me logo Genes that share domains with TAP1: view

Function for TAP1 Gene

Molecular function for TAP1 Gene

UniProtKB/Swiss-Prot Function: Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by human Epstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum and subsequent peptide loading by MHC class I molecules
UniProtKB/Swiss-Prot Induction: By IFNG/IFN-gamma

Gene Ontology (GO) - Molecular Function for TAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12213826
GO:0005524 ATP binding IDA 11133832
GO:0015197 peptide transporter activity IMP 17418234
GO:0015440 peptide-transporting ATPase activity IEA --
GO:0016887 ATPase activity --
genes like me logo Genes that share ontologies with TAP1: view
genes like me logo Genes that share phenotypes with TAP1: view

Animal Models for TAP1 Gene

MGI Knock Outs for TAP1:

miRNA for TAP1 Gene

miRTarBase miRNAs that target TAP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TAP1 Gene

Localization for TAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAP1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments seem to form a pore in the membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TAP1 Gene COMPARTMENTS Subcellular localization image for TAP1 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
plasma membrane 3
cytoskeleton 2
extracellular 2
mitochondrion 2
nucleus 2
endosome 1
golgi apparatus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IDA 8955196
GO:0030176 integral component of endoplasmic reticulum membrane IDA 11133832
genes like me logo Genes that share ontologies with TAP1: view

Pathways for TAP1 Gene

genes like me logo Genes that share pathways with TAP1: view

Gene Ontology (GO) - Biological Process for TAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006200 obsolete ATP catabolic process --
GO:0006810 transport --
GO:0006952 defense response IEA --
genes like me logo Genes that share ontologies with TAP1: view

Compounds for TAP1 Gene

(1) HMDB Compounds for TAP1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5

(2) Drugbank Compounds for TAP1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine-5'-Diphosphate
20398-34-9 target
Lapatinib
  • FMM
388082-78-8 transporter inhibitor

(8) Novoseek inferred chemical compound relationships for TAP1 Gene

Compound -log(P) Hits PubMed IDs
ifn-alpha 26.9 1
valine 22.9 2
mitoxantrone 18.7 3
atp 8.42 8
alanine 0.256 2
genes like me logo Genes that share compounds with TAP1: view

Transcripts for TAP1 Gene

mRNA/cDNA for TAP1 Gene

Unigene Clusters for TAP1 Gene

Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TAP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5:
SP6:
SP7:

Relevant External Links for TAP1 Gene

GeneLoc Exon Structure for
TAP1
ECgene alternative splicing isoforms for
TAP1

Expression for TAP1 Gene

mRNA expression in normal human tissues for TAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TAP1 Gene

This gene is overexpressed in Whole Blood (7.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TAP1 Gene

SOURCE GeneReport for Unigene cluster for TAP1 Gene Hs.352018

genes like me logo Genes that share expressions with TAP1: view

Orthologs for TAP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TAP1 36
  • 98.89 (n)
  • 98.39 (a)
TAP1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TAP1 36
  • 80.9 (n)
  • 75.5 (a)
TAP1 37
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TAP1 36
  • 82.97 (n)
  • 77.63 (a)
TAP1 37
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tap1 36
  • 79.31 (n)
  • 73.19 (a)
Tap1 16
Tap1 37
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TAP1 37
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TAP1 37
  • 47 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tap1 36
  • 78.65 (n)
  • 72.75 (a)
chicken
(Gallus gallus)
Aves TAP1 36
  • 59.99 (n)
  • 50.64 (a)
TAP1 37
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 26 (a)
OneToMany
-- 37
  • 54 (a)
OneToMany
-- 37
  • 56 (a)
OneToMany
-- 37
  • 54 (a)
OneToMany
-- 37
  • 34 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488534 36
  • 54.72 (n)
  • 49.33 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8100 36
zebrafish
(Danio rerio)
Actinopterygii tap1 36
  • 59.01 (n)
  • 53.36 (a)
tap1 37
  • 45 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea haf-2 37
  • 27 (a)
ManyToMany
haf-4 37
  • 28 (a)
ManyToMany
haf-7 37
  • 25 (a)
ManyToMany
haf-8 37
  • 29 (a)
ManyToMany
haf-9 37
  • 29 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDL1 37
  • 25 (a)
ManyToMany
MDL2 37
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 28 (a)
ManyToMany
CSA.2338 37
  • 28 (a)
ManyToMany
Species with no ortholog for TAP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TAP1 Gene

ENSEMBL:
Gene Tree for TAP1 (if available)
TreeFam:
Gene Tree for TAP1 (if available)

Paralogs for TAP1 Gene

Paralogs for TAP1 Gene

genes like me logo Genes that share paralogs with TAP1: view

Variants for TAP1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TAP1 Gene

Q03518-TAP1_HUMAN
There are five common alleles; TAP1*01:01 (PSF1A), TAP1*02:01 (PSF1B), TAP1*03:01 (PSF1C), TAP1*01:04 and TAP1*x. The sequence of TAP1*01:01 is shown here

Sequence variations from dbSNP and Humsavar for TAP1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs241422 -- 32,851,926(-) CTCTC(A/T)CACAC intron-variant
rs241423 -- 32,850,233(-) CTCCT(C/T)CTTTA intron-variant
rs735883 -- 32,848,277(-) TTTGC(C/T)GCTTC intron-variant
rs1057141 Benign, - 32,850,997(-) CCCTG(A/G)TCACC reference, missense
rs1057149 -, - 32,847,165(-) TCAGC(A/G)ACAGG missense, reference

Structural Variations from Database of Genomic Variants (DGV) for TAP1 Gene

Variant ID Type Subtype PubMed ID
nsv830633 CNV Loss 17160897

Relevant External Links for TAP1 Gene

HapMap Linkage Disequilibrium report
TAP1
Human Gene Mutation Database (HGMD)
TAP1
Locus Specific Mutation Databases (LSDB)
TAP1

Disorders for TAP1 Gene

(1) OMIM Diseases for TAP1 Gene (170260)

UniProtKB/Swiss-Prot

TAP1_HUMAN
  • Bare lymphocyte syndrome 1 (BLS1) [MIM:604571]: A 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. {ECO:0000269 PubMed:10074494}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) University of Copenhagen DISEASES for TAP1 Gene

(51) Novoseek inferred disease relationships for TAP1 Gene

Disease -log(P) Hits PubMed IDs
hla class i deficiency 73.9 1
diabetes mellitus insulin-dependent 47.6 7
cervical carcinoma 44.3 12
melanoma 40.4 20
tumors 38.7 36

Relevant External Links for TAP1

Genetic Association Database (GAD)
TAP1
Human Genome Epidemiology (HuGE) Navigator
TAP1
genes like me logo Genes that share disorders with TAP1: view

Publications for TAP1 Gene

  1. Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region. (PMID: 1946428) Bahram S. … Spies T. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4 23
  2. Downregulation of TAP1 in B lymphocytes by cellular and Epstein-Barr virus-encoded interleukin-10. (PMID: 9310490) Zeidler R. … Hammerschmidt W. (Blood 1997) 3 4 23
  3. The human cytomegalovirus gene product US6 inhibits ATP binding by TAP. (PMID: 11157746) Hewitt E.W. … Lehner P.J. (EMBO J. 2001) 3 4 23
  4. TAP1 and TAP2 polymorphism in Spanish patients with ankylosing spondylitis. (PMID: 11096258) Fraile A. … Nieto A. (Exp. Clin. Immunogenet. 2000) 3 23 49
  5. Structure of the ABC ATPase domain of human TAP1, the transporter associated with antigen processing. (PMID: 11532960) Gaudet R. … Wiley D.C. (EMBO J. 2001) 3 4 23

Products for TAP1 Gene

Sources for TAP1 Gene

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