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Aliases for TAP1 Gene

Aliases for TAP1 Gene

  • Transporter 1, ATP-Binding Cassette, Sub-Family B (MDR/TAP) 2 3 5
  • 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
  • ABCB2 3 4
  • PSF-1 3 4
  • RING4 3 4
  • APT1 3 4
  • PSF1 3 4
  • Transporter, ATP-Binding Cassette, Major Histocompatibility Complex, 1 3
  • ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 2 3
  • Transporter 1 ATP-Binding Cassette Sub-Family B 3
  • Transporter Associated With Antigen Processing 3
  • ABC Transporter, MHC 1 3
  • TAP1*0102N 3
  • D6S114E 3
  • ABC17 3
  • TAP1N 3
  • Y3 4

External Ids for TAP1 Gene

Previous HGNC Symbols for TAP1 Gene

  • ABCB2

Previous GeneCards Identifiers for TAP1 Gene

  • GC06U990120
  • GC06M032810
  • GC06M032583
  • GC06M032859
  • GC06M032920
  • GC06M032812
  • GC06M032857
  • GC06M032858

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 bare lymphocyte syndrome, type i and immunodeficiency by defective expression of hla class 1. Among its related pathways are Immune System and ABC-family proteins mediated transport. GO annotations related to this gene include protein homodimerization activity and ATPase activity, coupled to transmembrane movement of substances. 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

Regulatory Elements for TAP1 Gene

Promoters for TAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TAP1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for TAP1 Gene

Chromosome:
6
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

Genes around TAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

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

  • Ubiquitination at Lys 449
  • Modification sites at PhosphoSitePlus

Other Protein References for TAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TAP1 (TAP1)

No data available for DME Specific Peptides for TAP1 Gene

Domains & Families for TAP1 Gene

Gene Families for TAP1 Gene

Suggested Antigen Peptide Sequences for TAP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q03518

UniProtKB/Swiss-Prot:

TAP1_HUMAN :
  • The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2.
  • Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily.
Domain:
  • The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2.
  • Contains 1 ABC transmembrane type-1 domain.
  • Contains 1 ABC transporter domain.
Family:
  • Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily.
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:0015440 peptide-transporting ATPase activity IEA --
GO:0042288 MHC class I protein binding IEA --
GO:0042605 peptide antigen binding IEA,NAS 11133832
GO:0043531 ADP binding IEA,IDA 11532960
genes like me logo Genes that share ontologies with TAP1: view
genes like me logo Genes that share phenotypes with TAP1: view

Human Phenotype Ontology for TAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TAP1 Gene

MGI Knock Outs for TAP1:

Animal Model Products

miRNA for TAP1 Gene

miRTarBase miRNAs that target TAP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for TAP1 Gene

Pathways & Interactions 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:0002250 adaptive immune response IEA --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006810 transport IEA --
GO:0006952 defense response IEA --
GO:0015833 peptide transport IEA,IMP 11133832
genes like me logo Genes that share ontologies with TAP1: view

No data available for SIGNOR curated interactions for TAP1 Gene

Drugs & Compounds for TAP1 Gene

(7) Drugs for TAP1 Gene - From: Novoseek, HMDB, DrugBank, and FDA Approved Drugs

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lapatinib Approved March 2007, Investigational Pharma Transporter, inhibitor EGFR/HER2 inhibitor,potent,selective and reversible, HER2 and EGFR kinase inhibitor, HER2 Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 294
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for TAP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 differential expression in normal tissues according to GTEx for TAP1 Gene

This gene is overexpressed in Whole Blood (x7.8).

Protein differential expression in normal tissues from HIPED for TAP1 Gene

This gene is overexpressed in Breast (19.5), CD8 Tcells (10.8), Peripheral blood mononuclear cells (7.1), and NK cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with TAP1: view

Protein tissue co-expression partners for TAP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for TAP1 Gene

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
cow
(Bos Taurus)
Mammalia TAP1 35
  • 80.9 (n)
  • 75.5 (a)
TAP1 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TAP1 35
  • 82.97 (n)
  • 77.63 (a)
TAP1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tap1 35
  • 79.31 (n)
  • 73.19 (a)
Tap1 16
Tap1 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TAP1 35
  • 98.89 (n)
  • 98.39 (a)
TAP1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tap1 35
  • 78.65 (n)
  • 72.75 (a)
oppossum
(Monodelphis domestica)
Mammalia TAP1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TAP1 36
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAP1 35
  • 59.99 (n)
  • 50.64 (a)
TAP1 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 26 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
-- 36
  • 34 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488534 35
  • 54.72 (n)
  • 49.33 (a)
zebrafish
(Danio rerio)
Actinopterygii tap1 35
  • 59.01 (n)
  • 53.36 (a)
tap1 36
  • 45 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8100 35
worm
(Caenorhabditis elegans)
Secernentea haf-2 36
  • 27 (a)
ManyToMany
haf-4 36
  • 28 (a)
ManyToMany
haf-7 36
  • 25 (a)
ManyToMany
haf-8 36
  • 29 (a)
ManyToMany
haf-9 36
  • 29 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDL1 36
  • 25 (a)
ManyToMany
MDL2 36
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
ManyToMany
CSA.2338 36
  • 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
rs1057141 - 32,850,997(-) CCCTG(A/G)TCACC reference, missense
rs1135216 - 32,847,198(-) GGTAG(A/G)CGAGG reference, missense
rs2127679 - 32,850,459(-) TGAGG(C/T)TCTGT reference, missense
rs41550019 - 32,848,995(-) AGGCT(C/G/T)TGGAG reference, missense
rs41561219 - 32,848,666(-) CAGAT(A/G)TCTTA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv830633 CNV Loss 17160897

Variation tolerance for TAP1 Gene

Residual Variation Intolerance Score: 97.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.78; 95.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TAP1 Gene

HapMap Linkage Disequilibrium report
TAP1
Human Gene Mutation Database (HGMD)
TAP1

Disorders for TAP1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TAP1 Gene - From: OMIM, ClinVar, Orphanet, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bare lymphocyte syndrome, type i
  • bare lymphocyte syndrome, type i, due to tap2 deficiency
immunodeficiency by defective expression of hla class 1
  • bare lymphocyte syndrome type 1
herpes simplex
  • herpesvirus hominis disease
spondylitis
recurrent respiratory papillomatosis
  • adult-onset recurrent respiratory papillomatosis
- elite association - COSMIC cancer census association via MalaCards
Search TAP1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for TAP1

Genetic Association Database (GAD)
TAP1
Human Genome Epidemiology (HuGE) Navigator
TAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TAP1
genes like me logo Genes that share disorders with TAP1: view

No data available for Genatlas for TAP1 Gene

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 67
  2. BRD2 and TAP-1 genes and juvenile myoclonic epilepsy. (PMID: 19953286) Layouni S. … Dogui M. (Neurol. Sci. 2010) 3 23
  3. Down-regulation of HLA class I antigen in human papillomavirus type 16 E7 expressing HaCaT cells: correlate with TAP-1 expression. (PMID: 20134267) Li W. … Feng J.B. (Int. J. Gynecol. Cancer 2010) 3 23
  4. Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies. (PMID: 20141545) Layouni S. … Dogui M. (Int. J. Immunogenet. 2010) 3 23
  5. The CRAL/TRIO and GOLD domain protein TAP-1 regulates RAF-1 activation. (PMID: 20230813) Johnson K.G. … Kornfeld K. (Dev. Biol. 2010) 3 23

Products for TAP1 Gene

Sources for TAP1 Gene

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