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 ... See more...

Aliases for TAP1 Gene

Aliases for TAP1 Gene

  • Transporter 1, ATP Binding Cassette Subfamily B Member 2 3 5
  • Transporter 1, ATP-Binding Cassette, Sub-Family B (MDR/TAP) 2 3
  • 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
  • Antigen Peptide Transporter 1 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
  • GC06M032868
  • GC06M032869
  • GC06M032860
  • GC06M032861
  • GC06M032862
  • GC06M032863
  • GC06M032864
  • GC06M032865
  • GC06M032866

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 Subfamily B Member) is a Protein Coding gene. Diseases associated with TAP1 include Immunodeficiency By Defective Expression Of Mhc Class I and Bare Lymphocyte Syndrome, Type I. Among its related pathways are Phagosome and Development_Thrombopoetin signaling via JAK-STAT pathway. Gene Ontology (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 TAP2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for TAP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TAP1 Gene

Genomics for TAP1 Gene

GeneHancer (GH) Regulatory Elements for TAP1 Gene

Promoters and enhancers for TAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J032851 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 781.5 +0.1 72 5.2 ZBTB40 CTCF MLX RBPJ POLR2A ATF1 CREB1 MIXL1 NFYC RELA PSMB9 TAP1 BRD2 LEMD2 ATF6B VPS52 SKIV2L PSMB8 WDR46 TAP2
GH06J032965 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 33.3 -116.7 -116691 10.4 ZNF785 ZNF24 ZBTB40 CTCF SREBF1 ZBTB6 FOXA1 LCORL RBPJ SMARCE1 BRD2 HLA-DMA ENSG00000223837 NONHSAG045804.2 LEMD2 VPS52 RXRB ATF6B DAXX RING1
GH06J033247 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas 31.8 -395.5 -395530 3.4 ZBTB40 SP1 CTCF ZBTB6 FOXA1 MLX RBPJ SMARCE1 POLR2A ATF1 HCG25 lnc-VPS52-1 DAXX WDR46 BRD2 TAP1 LEMD2 RGL2 ITPR3 RPS18
GH06J033423 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 23.7 -575.4 -575352 10.7 SP1 ZBTB40 CTCF ZBTB6 SMARCE1 RBPJ POLR2A USF2 NR2F1 NR2F6 DAXX BRD2 LEMD2 WDR46 HCG25 RING1 VPS52 RXRB RPS18 KIFC1
GH06J032175 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 23.6 +676.6 676618 5.9 ZNF785 ZBTB40 SP1 LCORL MLX RBPJ SMARCE1 POLR2A MCM5 TCF7L2 RNF5 AGPAT1 BRD2 DDX39B LSM2 LY6G5B GPANK1 ATF6B BAG6 TNXB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TAP1 gene promoter:
  • AML1a
  • STAT3

Genomic Locations for TAP1 Gene

Genomic Locations for TAP1 Gene
chr6:32,845,209-32,853,978
(GRCh38/hg38)
Size:
8,770 bases
Orientation:
Minus strand
chr6:32,812,986-32,821,755
(GRCh37/hg19)
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 HLA-A*02-B2M complex; this interaction is obligatory for the loading of peptide epitopes delivered to the ER by TAP1-TAP2 transporter (PubMed:8805302, PubMed:8630735). Interacts with PSMB5 and PSMB8 (PubMed:15488952). Similarly to classical MHC class I assembly, HLA-E-B2M complex binds TAP1-TAP2 heterodimer and CALR before the peptide loading (PubMed:9427624). Interacts with HLA-F (PubMed:10605026). Interacts with PSMB5 and PSMB8 (PubMed:15488952).
    • (Microbial infection) Interacts with Epstein-Barr virus BNLF2a.
    • (Microbial infection) Interacts with herpes simplex virus ICP47.
    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

Post-translational modifications for TAP1 Gene

  • Ubiquitination at Lys449
  • Modification sites at PhosphoSitePlus

Other Protein References for TAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TAP1 Gene

Domains & Families for TAP1 Gene

Gene Families for TAP1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for TAP1 Gene

GenScript: Design optimal peptide antigens:
  • TAP1N (O94774_HUMAN)
  • TAP1 (Q12847_HUMAN)
  • TAP1 (Q12848_HUMAN)
  • TAP1 protein (Q13013_HUMAN)
  • TAP1 protein (Q16148_HUMAN)

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.
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.

Phenotypes From GWAS Catalog for TAP1 Gene

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 IEA,IMP 15793001
GO:0015433 peptide antigen-transporting ATPase activity IEA --
GO:0015440 peptide-transporting ATPase activity IBA 21873635
GO:0016887 ATPase activity IEA --
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:
  • Tap1 Tap1<tm1Hpl>
  • Tap1 Tap1<tm2b(EUCOMM)Hmgu>
  • Tap1 Tap1<tm1Arp>

Animal Model Products

CRISPR Products

miRNA for TAP1 Gene

miRTarBase miRNAs that target TAP1

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TAP1 gene
Compartment Confidence
endoplasmic reticulum 5
cytoskeleton 4
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Microtubule organizing center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005815 microtubule organizing center IDA --
GO:0016020 membrane HDA 19946888
GO:0016021 integral component of membrane IDA,IBA 8955196
genes like me logo Genes that share ontologies with TAP1: view

Pathways & Interactions for TAP1 Gene

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

SIGNOR curated interactions for TAP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
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,IEA --
GO:0006952 defense response IEA --
genes like me logo Genes that share ontologies with TAP1: view

Drugs & Compounds for TAP1 Gene

(6) Drugs for TAP1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lapatinib Approved, 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 312
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 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

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TAP1 Gene



Protein tissue co-expression partners for TAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TAP1 Gene:

TAP1

SOURCE GeneReport for Unigene cluster for TAP1 Gene:

Hs.352018

Evidence on tissue expression from TISSUES for TAP1 Gene

  • Blood(4.6)
  • Nervous system(4)
  • Lung(2.4)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TAP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • middle ear
  • mouth
  • nose
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with TAP1: view

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
chimpanzee
(Pan troglodytes)
Mammalia TAP1 33 32
  • 98.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TAP1 33 32
  • 82.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TAP1 33 32
  • 80.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tap1 17 33 32
  • 79.31 (n)
rat
(Rattus norvegicus)
Mammalia Tap1 32
  • 78.65 (n)
oppossum
(Monodelphis domestica)
Mammalia TAP1 33
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TAP1 33
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAP1 33 32
  • 59.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 56 (a)
OneToMany
-- 33
  • 54 (a)
OneToMany
-- 33
  • 54 (a)
OneToMany
-- 33
  • 34 (a)
OneToMany
-- 33
  • 26 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488534 32
  • 54.72 (n)
zebrafish
(Danio rerio)
Actinopterygii tap1 33 32
  • 59.01 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8100 32
worm
(Caenorhabditis elegans)
Secernentea haf-8 33
  • 29 (a)
ManyToMany
haf-9 33
  • 29 (a)
ManyToMany
haf-4 33
  • 28 (a)
ManyToMany
haf-2 33
  • 27 (a)
ManyToMany
haf-7 33
  • 25 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDL1 33
  • 25 (a)
ManyToMany
MDL2 33
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2338 33
  • 28 (a)
ManyToMany
-- 33
  • 28 (a)
ManyToMany
Species where no ortholog for TAP1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TAP1: view image

Paralogs for TAP1 Gene

(29) SIMAP similar genes for TAP1 Gene using alignment to 12 proteins:

  • TAP1_HUMAN
  • F5H648_HUMAN
  • L8E792_HUMAN
  • Q12847_HUMAN
  • Q12848_HUMAN
  • Q13013_HUMAN
  • Q16148_HUMAN
  • Q53WZ1_HUMAN
  • Q69DM1_HUMAN
  • Q6QWC0_HUMAN
  • Q6QWC1_HUMAN
  • Q8TD77_HUMAN
genes like me logo Genes that share paralogs with TAP1: view

Variants for TAP1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TAP1 Gene

TAP1_HUMAN-Q03518
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 Variation AA Info Type
rs1010241068 uncertain-significance, Bare lymphocyte syndrome type 1 32,853,227(-) G/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs1057141 benign, PEPTIDE TRANSPORTER PSF1 POLYMORPHISM, not specified, - 32,850,997(-) T/C coding_sequence_variant, missense_variant
rs1057149 benign, Bare lymphocyte syndrome type 1, -, - 32,847,165(-) C/T coding_sequence_variant, missense_variant
rs1135216 benign, PEPTIDE TRANSPORTER PSF1 POLYMORPHISM, not specified, - 32,847,198(-) T/C coding_sequence_variant, missense_variant
rs113585939 benign, Bare lymphocyte syndrome type 1 32,853,656(-) C/G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
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)

Additional Variant Information for TAP1 Gene

Human Gene Mutation Database (HGMD)
TAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAP1

SNP Genotyping and Copy Number Assay Products

Disorders for TAP1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for TAP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency by defective expression of mhc class i
  • mhc class i deficiency
bare lymphocyte syndrome, type i
  • bls, type i
herpes simplex
  • herpesvirus hominis disease
spondylitis
orbital melanoma
- 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.

Additional Disease Information for TAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4 23 56
  2. BRD2 and TAP-1 genes and juvenile myoclonic epilepsy. (PMID: 19953286) Layouni S … Dogui M (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2010) 3 23 43 56
  3. Dimorphism of TAP-1 gene in Caucasian with juvenile myoclonic epilepsy and in Tunisian with idiopathic generalized epilepsies. (PMID: 20141545) Layouni S … Dogui M (International journal of immunogenetics 2010) 3 23 43 56
  4. No association of TAP1 and TAP2 genes polymorphism with risk of cervical cancer in north Indian population. (PMID: 19263211) Kordi Tamandani DM … Suri V (Journal of assisted reproduction and genetics 2009) 3 23 43 56
  5. Determination of TAP1 and TAP2 polymorphism in the Chinese Han population by real-time TaqMan polymerase chain reaction. (PMID: 18764808) Feng ML … Liu DZ (Tissue antigens 2008) 3 23 43 56

Products for TAP1 Gene