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
  • RING4 2 3 4
  • PSF1 2 3 4
  • 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
  • D6S114E 2 3
  • ABCB2 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 1 ATP-Binding Cassette Sub-Family B 3
  • Transporter Associated With Antigen Processing 3
  • ABC Transporter, MHC 1 3
  • TAP1*0102N 3
  • EC 7.4.2.- 4
  • ABC17 3
  • TAP1N 3
  • TAP1 5
  • 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
  • GC06M032867
  • GC06M032866
  • GC06M032860
  • GC06M032861
  • GC06M032862
  • GC06M032863
  • GC06M032864
  • GC06M032865

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 Measles and Phagosome. 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 ABCB9.

UniProtKB/Swiss-Prot Summary for TAP1 Gene

  • ABC transporter associated with antigen processing. In complex with TAP2 mediates unidirectional translocation of peptide antigens from cytosol to endoplasmic reticulum (ER) for loading onto MHC class I (MHCI) molecules (PubMed:25656091, PubMed:25377891). Uses the chemical energy of ATP to export peptides against the concentration gradient (PubMed:25377891). During the transport cycle alternates between 'inward-facing' state with peptide binding site facing the cytosol to 'outward-facing' state with peptide binding site facing the ER lumen. Peptide antigen binding to ATP-loaded TAP1-TAP2 induces a switch to hydrolysis-competent 'outward-facing' conformation ready for peptide loading onto nascent MHCI molecules. Subsequently ATP hydrolysis resets the transporter to the 'inward facing' state for a new cycle (PubMed:25377891, PubMed:25656091, PubMed:11274390). Typically transports intracellular peptide antigens of 8 to 13 amino acids that arise from cytosolic proteolysis via IFNG-induced immunoproteasome. Binds peptides with free N- and C-termini, the first three and the C-terminal residues being critical. Preferentially selects peptides having a highly hydrophobic residue at position 3 and hydrophobic or charged residues at the C-terminal anchor. Proline at position 2 has the most destabilizing effect (PubMed:7500034, PubMed:9256420, PubMed:11274390). As a component of the peptide loading complex (PLC), acts as a molecular scaffold essential for peptide-MHCI assembly and antigen presentation (PubMed:26611325, PubMed:1538751, PubMed:25377891).

Gene Wiki entry 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 Pubs

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 273.4 -0.1 -90 5.2 ZBTB10 MXD4 FEZF1 MNT DEK IKZF1 IRF2 HES1 ZFP64 ZNF217 PSMB9 TAP1 BRD2 VPS52 LEMD2 PSMB8 RXRB ATF6B HLA-DOB C4A
GH06J032939 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.3 -90.0 -89981 9.6 SP1 BCL11A IRF2 POLR2A CTCF BRCA1 SIN3A REST GABPA TRIM22 HLA-DMA BRD2 PSMB9 TAP1 TAP2 PSMB8 RING1 HLA-DMB HLA-DOB ENSG00000223837
GH06J032837 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.6 +11.6 11577 9.8 TBP ZBTB10 SP1 BCL11A CEBPA NR2C1 MNT DEK IRF2 ZNF217 PSMB9 PSMB8-AS1 PSMB8 TAP2 HLA-DMA TAP1 HLA-DRB1 HLA-DOB HLA-DQA1 ENSG00000250264
GH06J032965 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 -116.9 -116853 10.4 ZSCAN16 CHD2 ZBTB10 BCL11A MXD4 CEBPA NR2C1 MNT IKZF1 BRCA1 BRD2 HLA-DMA ENSG00000223837 NONHSAG045804.2 LEMD2 VPS52 RXRB ATF6B DAXX RING1
GH06J032175 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 +676.5 676456 5.9 CHD2 TBP ZBTB10 SP1 MXD4 CEBPA MNT IKZF1 SMAD5 HES1 RNF5 AGPAT1 HSALNG0049381 DDX39B BRD2 LY6G5B LSM2 ATF6B TNXB MSH5
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TAP1

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

Genomic Locations for TAP1 Gene

Latest Assembly
chr6:32,845,209-32,853,816
(GRCh38/hg38)
Size:
8,608 bases
Orientation:
Minus strand

Previous Assembly
chr6:32,812,986-32,821,481
(GRCh37/hg19 by Entrez Gene)
Size:
8,496 bases
Orientation:
Minus strand

chr6:32,812,986-32,821,755
(GRCh37/hg19 by Ensembl)
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
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Heterodimer of TAP1 and TAP2 (TAP1-TAP2) (PubMed:1538751). A component of the peptide loading complex (PLC), interacts via TAPBP with MHCI heterodimer; this interaction mediates peptide-MHCI assembly (PubMed:26611325). Recruits TAPBP in a 1:1 stoichiometry (PubMed:22638925). Interacts with classical MHCI such as HLA-A*02-B2M; this interaction is obligatory for the loading of peptide epitopes (PubMed:8805302, PubMed:8630735). Interacts with non-classical MHCI molecules including HLA-E-B2M and HLA-F-B2M as well as PLC component CALR before the peptide loading (PubMed:9427624, PubMed:10605026). Interacts with PSMB5 and PSMB8 (PubMed:15488952).
    • (Microbial infection) Interacts with Epstein-Barr virus BNLF2a.
    • (Microbial infection) Interacts with herpes simplex virus US12/ICP47.
    • (Microbial infection) Interacts with adenovirus E3-19K glycoprotein, which binds TAP1-TAP2 and acts as a TAPBP inhibitor, preventing TAP1-TAP2 association with MHCI.
    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

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 intracellular proteins
  • 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.
  • The nucleotide-binding domain (NBD) mediates ATP hydrolysis coupled to peptide translocation. Two ATP molecules are accommodated at distinct nucleotide binding sites (NBS) at TAP1-TAP2 dimer interface. Each NBS is formed by Walker A (GxxGxGKST) and Q-loop motifs from NBD of one subunit, while the NBD from the second subunit completes the active site by contributing the C loop motif (LSGGQ). Each ATP molecule is coordinated via the beta- and gamma-phosphates to a Mg2+ ion, which is necessary for ATP hydrolysis.
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:
ABC transporter associated with antigen processing. In complex with TAP2 mediates unidirectional translocation of peptide antigens from cytosol to endoplasmic reticulum (ER) for loading onto MHC class I (MHCI) molecules (PubMed:25656091, PubMed:25377891). Uses the chemical energy of ATP to export peptides against the concentration gradient (PubMed:25377891). During the transport cycle alternates between 'inward-facing' state with peptide binding site facing the cytosol to 'outward-facing' state with peptide binding site facing the ER lumen. Peptide antigen binding to ATP-loaded TAP1-TAP2 induces a switch to hydrolysis-competent 'outward-facing' conformation ready for peptide loading onto nascent MHCI molecules. Subsequently ATP hydrolysis resets the transporter to the 'inward facing' state for a new cycle (PubMed:25377891, PubMed:25656091, PubMed:11274390). Typically transports intracellular peptide antigens of 8 to 13 amino acids that arise from cytosolic proteolysis via IFNG-induced immunoproteasome. Binds peptides with free N- and C-termini, the first three and the C-terminal residues being critical. Preferentially selects peptides having a highly hydrophobic residue at position 3 and hydrophobic or charged residues at the C-terminal anchor. Proline at position 2 has the most destabilizing effect (PubMed:7500034, PubMed:9256420, PubMed:11274390). As a component of the peptide loading complex (PLC), acts as a molecular scaffold essential for peptide-MHCI assembly and antigen presentation (PubMed:26611325, PubMed:1538751, PubMed:25377891).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a peptide antigen(in) + ATP + H2O = a peptide antigen(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:65972, Rhea:RHEA-COMP:16941, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:166823, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:11274390, ECO:0000269|PubMed:25377891, ECO:0000269|PubMed:25656091};.
UniProtKB/Swiss-Prot Induction:
Up-regulated by IFNG (PubMed:1946428). Down-regulated by IL10 (PubMed:9310490).
UniProtKB/Swiss-Prot Induction:
(Microbial infection) Down-regulated by BCRF1/viral IL10.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.3 mM for ATP {ECO:0000269|PubMed:11274390}; KM=0.099 mM for ATP {ECO:0000269|PubMed:25377891}; Vmax=2 umol/min/mg enzyme {ECO:0000269|PubMed:11274390};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited at high ER lumenal peptide concentrations.
UniProtKB/Swiss-Prot EnzymeRegulation:
(Microbial infection) Inhibited by herpes simplex virus US12/ICP47 protein, which blocks the peptide-binding site of TAP1-TAP2.
UniProtKB/Swiss-Prot EnzymeRegulation:
(Microbial infection) Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of TAP1-TAP2 complex and inhibits peptide translocation by specifically blocking ATP-binding and preventing TAP1-TAP2 conformational rearrangement induced by peptide binding.

Enzyme Numbers (IUBMB) for TAP1 Gene

Phenotypes From GWAS Catalog for TAP1 Gene

Gene Ontology (GO) - Molecular Function for TAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 12213826
GO:0005524 ATP binding IEA,IMP 15793001
GO:0015433 peptide antigen-transporting ATPase activity IEA,IMP 25656091
GO:0015440 peptide-transporting ATPase activity IBA 21873635
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>

miRNA for TAP1 Gene

miRTarBase miRNAs that target TAP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAP1

No data available for 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
plasma membrane 4
cytoskeleton 4
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Centriolar satellite (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane HDA 19946888
GO:0016021 integral component of membrane IEA,IDA 8955196
GO:0030176 integral component of endoplasmic reticulum membrane IEA,IDA 7673167
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

Pathways by source for TAP1 Gene

2 GeneGo (Thomson Reuters) pathways for TAP1 Gene
  • Development_Thrombopoetin signaling via JAK-STAT pathway
  • Immune response Antigen presentation by MHC class I
1 Cell Signaling Technology pathway for TAP1 Gene

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 IEA,TAS --
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 315
ATP Investigational 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

2 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAP1

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

Expression for TAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TAP1

SOURCE GeneReport for Unigene cluster for TAP1 Gene:

Hs.352018

mRNA Expression by UniProt/SwissProt for TAP1 Gene:

Q03518-TAP1_HUMAN
Tissue specificity: Higly expressed in professional APCs monocytes and dendritic cells as well as in lymphocyte subsets T cells, B cells and NK cells.

Evidence on tissue expression from TISSUES for TAP1 Gene

  • Blood(4.7)
  • Nervous system(4.2)
  • Intestine(2.8)
  • Lung(2.8)
  • Skin(2.7)
  • Spleen(2.5)
  • Kidney(2.3)
  • Liver(2.2)
  • Lymph node(2.1)

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

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 30 31
  • 98.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TAP1 30 31
  • 82.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TAP1 30 31
  • 80.9 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tap1 30 17 31
  • 79.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tap1 30
  • 78.65 (n)
Oppossum
(Monodelphis domestica)
Mammalia TAP1 31
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TAP1 31
  • 47 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TAP1 30 31
  • 59.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 56 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
-- 31
  • 34 (a)
OneToMany
-- 31
  • 26 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488534 30
  • 54.72 (n)
Zebrafish
(Danio rerio)
Actinopterygii tap1 30 31
  • 59.01 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8100 30
Worm
(Caenorhabditis elegans)
Secernentea haf-8 31
  • 29 (a)
ManyToMany
haf-9 31
  • 29 (a)
ManyToMany
haf-4 31
  • 28 (a)
ManyToMany
haf-2 31
  • 27 (a)
ManyToMany
haf-7 31
  • 25 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDL1 31
  • 25 (a)
ManyToMany
MDL2 31
  • 25 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2338 31
  • 28 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
Species where no ortholog for TAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TAP1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
834634 Uncertain Significance: Bare lymphocyte syndrome type 1 32,850,498(-) C/T
NM_000593.6(TAP1):c.1070G>A (p.Arg357Gln)
MISSENSE
839821 Pathogenic: Bare lymphocyte syndrome type 1 32,848,654(-) G/A
NM_000593.6(TAP1):c.1564C>T (p.Gln522Ter)
NONSENSE
840001 Uncertain Significance: Bare lymphocyte syndrome type 1 32,853,656(-) C/G
NM_000593.6(TAP1):c.-20G>C
MISSENSE_VARIANT,FIVE_PRIME_UTR
841075 Uncertain Significance: Bare lymphocyte syndrome type 1 32,848,662(-) A/G
NM_000593.6(TAP1):c.1556T>C (p.Leu519Ser)
MISSENSE
842574 Uncertain Significance: Bare lymphocyte syndrome type 1 32,847,633(-) G/C
NM_000593.6(TAP1):c.1783C>G (p.Leu595Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TAP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

Disorders for TAP1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for TAP1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency by defective expression of mhc class i
  • bare lymphocyte syndrome type 1
bare lymphocyte syndrome, type i
  • bls, type i
herpes simplex
  • herpesvirus hominis disease
spondylitis
idiopathic bronchiectasis
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for TAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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 41
  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 41
  4. Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC. (PMID: 19387463) Ramos PS … Moser KL (Genes and immunity 2009) 3 23 41
  5. Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis. (PMID: 19404951) Maksymowych WP … Rahman P (Arthritis and rheumatism 2009) 3 23 41

Products for TAP1 Gene