TAP1 Gene
protein-coding GIFtS: 66
GCID: GC06M032812
|
|
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
(Previous symbol: ABCB2)
| |
Aliases
for TAP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Transporter 1, ATP-Binding Cassette, Sub-Family B (MDR/TAP)1 2 | | PSF-12 3 | | ABCB21 2 3 5 | | ATP-Binding Cassette Sub-Family B Member 22 3 | | PSF11 2 3 5 | | ABC172 | | RING41 2 3 5 | | TAP1*0102N2 | | D6S114E1 2 | | TAP1N2 | | Peptide Supply Factor 12 3 | | ABC Transporter, MHC 12 | | Peptide Transporter Involved In Antigen Processing 12 3 | | Antigen Peptide Transporter 12 | | Peptide Transporter PSF12 3 | | ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 22 | | Peptide Transporter TAP12 3 | | Transporter Associated With Antigen Processing2 | | Really Interesting New Gene 4 Protein2 3 | | Transporter, ATP-Binding Cassette, Major Histocompatibility Complex, 12 | | APT12 3 | | Y33 |
Export aliases for TAP1 gene to outside databasesPrevious GC identifers: GC06U990120 GC06M032810 GC06M032583 GC06M032859 GC06M032920 |
Summaries
for TAP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TAP1:
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 aredivided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of theMDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by thisgene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into themembrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosingspondylitis, insulin-dependent diabetes mellitus, and celiac disease. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: TAP1_HUMAN, Q03518Function: Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association withMHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely thebinding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachmentof herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by humancytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptidetranslocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAPinduced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts asa tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by humanEpstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum andsubsequent peptide loading by MHC class I molecules
Gene Wiki entry for TAP1
|
Genomic Views
for TAP1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167244.1 NT_167245.1 NT_167246.1 NT_167247.1
- NT_167248.1 NT_167249.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TAP1 gene promoter:
AML1a STAT3
Other transcription factors
Search SABiosciences Chromatin IP Primers for TAP1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TAP1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.32 HGNC cytogenetic band: 6p21.3TAP1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M032812: view genomic region
(about GC identifiers)
Start:
|
32,812,986 bp from pter |
End:
|
32,821,755 bp from pter |
Size:
|
8,770 bases |
Orientation:
|
minus strand |
6/7 alternative locations (see all 7):
| Chr6-,ALT_REF_LOCI_2 32,735,310-32,783,260 | Chr6-,ALT_REF_LOCI_1 32,796,593-32,813,655 | Chr6-,ALT_REF_LOCI_5 32,761,286-32,770,048 | | Chr6-,ALT_REF_LOCI_3 32,790,967-32,810,767 | Chr6-,ALT_REF_LOCI_4 32,889,841-32,898,603 | Chr6-,ALT_REF_LOCI_6 32,741,696-32,786,039 | |
|
Proteins
for TAP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: TAP1_HUMAN, Q03518 (See
protein sequence)Recommended Name: Antigen peptide transporter 1 Size: 808 amino acids; 87218 Da
Subunit: Heterodimer of TAP1 and TAP2. Interacts with Epstein-Barr virus BNLF2a. Interacts with PSMB5 and PSMB8
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The transmembrane segments seemto form a pore in the membrane
Caution: It is uncertain whether Met-1 or Met-61 is the initiator
Sequence caution: Sequence=CAA47025.1; Type=Erroneous initiation; Sequence=CAA60785.1; Type=Erroneous initiation;
1 PDB 3D structure from  and Proteopedia  for TAP1:1JJ7 (3D)
Secondary accessions: Q16149 Q96CP4Explore the universe of human proteins at neXtProt for TAP1: NX_Q03518
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q03518
TAP1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000584.2
ENSEMBL proteins: ENSP00000346206 ENSP00000401919 Reactome Protein details: Q03518
Human Recombinant Protein Products:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
TAP1 for ontologies About GeneDecksing
TAP1 Antibody Products:
Assay Products for TAP1: |
Protein
Domains /
Families
for TAP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TAP1 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry Q03518ProtoNet protein and cluster: Q03518 UniProtKB/Swiss-Prot: TAP1_HUMAN, Q03518Domain: The peptide-binding site is shared between the cytoplasmic loops of TAP1 and TAP2Similarity: Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamilySimilarity: Contains 1 ABC transmembrane type-1 domainSimilarity: Contains 1 ABC transporter domain |
Function
for TAP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: TAP1_HUMAN, Q03518Function: Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association withMHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely thebinding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachmentof herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by humancytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptidetranslocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAPinduced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts asa tapasin inhibitor, preventing MHC class I/TAP association. Expression of TAP1 is down-regulated by humanEpstein-Barr virus vIL-10 protein, thereby affecting the transport of peptides into the endoplasmic reticulum andsubsequent peptide loading by MHC class I moleculesInduction: By IFNG/IFN-gamma
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TAP1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TAP1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: TAP1 (NM_000593) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TAP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TAP1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAP1 |
Gene Ontology (GO): 5/15 molecular function terms (GO ID links to tree view) (see all 15): About this table
TAP1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for TAP1:
Animal Models:
Mouse knock-outs for TAP1: Tap1tm1Arp Tap1tm1Hpl
7 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Tap1):
TAP1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for TAP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Immune System | | | 2 | Immune response Antigen presentation by MHC class I | | | 3 | Development Thrombopoetin signaling via JAK-STAT pathway | | | 4 | Ubiquitinated Orc1 is degraded by the proteasome | | | 5 | Type II interferon signaling (IFNG) | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for TAP1
2  GeneGo (Thomson Reuters) Pathways for TAP1
2  BioSystems Pathways for TAP1
5/6 
Reactome Pathways for TAP1 (see all 6)
4 
Kegg Pathways (Kegg details for TAP1):
TAP1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TAP1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/36 Interacting proteins for TAP1 (Q035181, 2, 3 ENSP000003462064) via UniProtKB, MINT, STRING, and/or I2D (see all 36)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| TAP2 | Q035191, 2, 3, ENSP000003640344 | EBI-780739,EBI-780781 MINT-2838330 I2D:
score=5 STRING: ENSP00000364034 | | CALR | P277971, 3, ENSP000003208664 | EBI-780739,EBI-1049597 I2D:
score=2 STRING: ENSP00000320866 | | NUPL2 | O155042, 3, ENSP000002587424 | MINT-7033725 I2D:
score=1 STRING: ENSP00000258742 | | P4HB | P072371, 3 | EBI-780739,EBI-395883 I2D:
score=2 | | THOC5 | Q137692, 3, ENSP000003809694 | MINT-7040083 MINT-7040151 MINT-7033707 MINT-7040125 MINT-7040261 I2D:
score=1 STRING: ENSP00000380969 |
About this table
Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001916 | positive regulation of T cell mediated cytotoxicity |
IBA | -- | | 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 | ATP catabolic process |
-- | -- | | GO:0006952 | defense response |
IEA | -- |
TAP1 for ontologies About GeneDecksing
|
Drugs & Compounds
for TAP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
TAP1 for compounds About GeneDecksing
 Browse Tocris compounds for TAP1
1 HMDB Compound for TAP1 About this table
2 DrugBank Compounds for TAP1 About this table
8 Novoseek chemical compound relationships for TAP1 gene About this table
Search CenterWatch for drugs/clinical trials and news about TAP1
|
Transcripts
for TAP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TAP1 gene: NM_000593.5 Unigene Cluster for TAP1: Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) Hs.352018 [show with all ESTs]Unigene Representative Sequence: BC0018494 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000486332 ENST00000354258(uc003ocg.3) ENST00000487296 ENST00000425148(uc011dqi.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TAP1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TAP1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: TAP1 (NM_000593) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TAP1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TAP1 |
Additional cDNA sequence: AB012644.1 AK123494.1 AK130176.1 AK302340.1 AK313762.1 AY523970.1 AY523971.2 BC001849.1 BC014081.2 BX648013.1 L21204.1 L21205.1 L21206.1 L21207.1 L21208.1 S70266.1 X57521.1 X57522.1 19 DOTS entries: DT.97848033 DT.121353423 DT.100710765 DT.97861334 DT.100889868 DT.70100916 DT.98083166 DT.121353411 DT.100889871 DT.100889883 DT.92030517 DT.95261987 DT.121353477 DT.97848102 DT.121353435 DT.448230 DT.92450191 DT.92450201 DT.95149859 24/385 AceView cDNA sequences (see all 385): BQ014862 AX748392 BU541495 F08426 AB012644 F03036 CR596099 CA447978 BX642395 BQ927244 BM559111 AL554969 H88388 BM840943 AW295947 CA436543 BU156286 BQ887177 L21208 BQ573947 C01588 BU170375 CD364700 AA346259
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for TAP1 (see all 7) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for TAP1
|
Expression
for TAP1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TAP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGCAGGCTC
About this image
See TAP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TAP1
SOURCE GeneReport for Unigene cluster: Hs.352018
SABiosciences Expression via Pathway-Focused PCR Arrays including TAP1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TAP1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TAP1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TAP1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TAP1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAP1 |
Orthologs
for TAP1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for TAP1 gene from 7/17 species (see all 17) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
TAP11 |
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) |
59.02(n)
48.86(a) |
|
427727 NM_001135968.1 NP_001129440.1 |
lizard
(Anolis carolinensis) |
Reptilia |
---- |
-- |
56(a)54(a) |
1 ↔ many1 ↔ many |
GL344125.1(75566-82292) GL344452.1(862-11931) |
African clawed frog
(Xenopus laevis) |
Amphibia |
AY204551.12 |
-- |
69.22(n) |
|
AY204551.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
LOC1003330431 |
antigen peptide transporter 1-like |
56.14(n)
49.55(a) |
|
100333043 XM_002665007.1 XP_002665053.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
haf-86haf-76 |
HAlF transporter (PGP related) family member (haf-...HAlF transporter (PGP related) family member (haf-... |
27(a)22(a) |
possible orthologpossible ortholog |
IV(14694001-14699909) V(14773342-14777316) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
ATTAP16 |
ABC transporter B family member 26 |
26(a) |
1 → many |
1(26621961-26626503) |
rice
(Oryza sativa) |
Liliopsida |
-- |
antigen peptide transporter-like 1, chloroplast pr... |
34(a) |
1 → many |
1(39702262-39707007) |
ENSEMBL Gene Tree for TAP1 (if available)
TreeFam Gene Tree for TAP1 (if available) |
Paralogs
for TAP1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TAP1 gene
- TAP22 ENSG000002502642 ABCB102 ABCB92 ABCB82
18/29 SIMAP similar genes for TAP1 using alignment to 13 protein entries: TAP1_HUMAN (see all proteins)
(see all similar genes):TAP1*0102N ABCB5 ABCB6 ABCC2 ABCC4 ABCC1
DKFZp781G125 MRP3 ABCB4 ABCB1 ABCB7 ABCB9
ABCC8 ABCB11 ABCC6 ABCB8 TAP2-G ABCC3
TAP1 for paralogs About GeneDecksing
|
Genomic Variants
for TAP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
UniProtKB/Swiss-Prot: TAP1_HUMAN, Q03518Polymorphism: There are five common alleles; TAP1*01:01 (PSF1A), TAP1*02:01 (PSF1B), TAP1*03:01 (PSF1C), TAP1*01:04 andTAP1*x. The sequence of TAP1*01:01 is shown here
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TAP1 (32812986 - 32821755 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TAP1: --
Human Gene Mutation Database (HGMD): TAP1
Locus Specific Mutation Databases (LSDB): TAP1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TAP1 |
|
Disorders
/ Diseases
for TAP1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TAP1 for disorders About GeneDecksing
OMIM gene information: 170260
OMIM disorders: 604571
UniProtKB/Swiss-Prot: TAP1_HUMAN, Q03518
Defects in TAP1 are a cause of bare lymphocyte syndrome type 1 (BLS1) [MIM:604571]; also called HLA class Ideficiency. BLS1 is a class I antigen deficiency that is not accompanied by particular pathologic manifestationsduring the first years of life. Systemic infections have not been described. Chronic bacterial infections, oftenbeginning in the first decade of life, are restricted to the respiratory tract
20/105  diseases for TAP1 (see all 105): About MalaCardsankylosing spondylitis diabetes mellitus spondylitis open-angle glaucoma
mhc class i deficiency primary open angle glaucoma bare lymphocyte syndrome recurrent respiratory papillomatosis
west nile virus posterior uveal melanoma juvenile myoclonic epilepsy idiopathic generalized epilepsy
dengue hemorrhagic fever generalized epilepsy pre-eclampsia celiac disease
capillary hemangioma alveolar echinococcosis allergic rhinitis echinococcosis
5 diseases from the University of Copenhagen DISEASES database for TAP1:Schizophrenia Hyperuricemia Carcinoma Capillary hemangioma
Perineurioma 10/51 Novoseek disease relationships for TAP1 gene (see all 51) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hla class i deficiency |
73.9 |
1 |
10074495 (1) |
| diabetes mellitus insulin-dependent |
47.6 |
7 |
9458110 (2), 9599304 (1), 1570316 (1), 1300236 (1) (see all 6) |
| cervical carcinoma |
44.3 |
14 |
8270878 (2), 11713591 (2), 17382375 (2), 19263211 (1) (see all 9) |
| melanoma |
40.4 |
28 |
12777979 (5), 11241306 (3), 17278102 (2), 17999701 (2) (see all 11) |
| tumors |
38.7 |
52 |
9426698 (4), 11340574 (3), 8803612 (3), 17278102 (3) (see all 24) |
| genetic susceptibility |
38.6 |
2 |
17982230 (1), 9844767 (1) |
| autoimmune diseases |
36.9 |
1 |
8635653 (1) |
| allelic loss |
30.9 |
1 |
18408926 (1) |
| cervical cancer |
29.8 |
9 |
18650831 (3), 19263211 (2), 18248301 (1), 8198988 (1) (see all 5) |
| spondylitis ankylosing |
28.6 |
4 |
8770637 (2), 1570316 (1), 11096258 (1) |
Genetic Association Database (GAD): TAP1
Human Genome Epidemiology (HuGE) Navigator: TAP1 (96 documents)
Export disorders for TAP1 gene to outside databases
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Publications
for TAP1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TAP1 gene, integrated from 9 sources (see all 391):
(articles sorted by number of sources associating them with TAP1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region. (PubMed id 1946428)1, 2, 3, 9 Bahram S.... Spies T. (1991)
- Novel TAP1 polymorphisms in indigenous Zimbabweans: their potential implications on TAP function and in human diseases. (PubMed id 12878362)1, 2, 4 Lajoie J.... Roger M. (2003)
- TAP1 polymorphisms in several human ethnic groups: characteristics, evolution, and genotyping strategies. (PubMed id 11250043)1, 2, 4 Tang J.... Kaslow R.A. (2001)
- TAP1 gene AccI polymorphism is associated with atopic bronchial asthma. (PubMed id 12640628)1, 4, 9 Hang L.W....Tsai F.J. (2003)
- TAP1 and TAP2 polymorphisms and their linkage disequilibrium with HLA-DR, -DP, and -DQ in an eastern Andalusian population. (PubMed id 16216677)1, 4, 9 Alvarado-Guerri R....Lopez-Nevot M.A. (2005)
- TAP1 and TAP2 polymorphisms analysis in northwestern Colombian patients with systemic lupus erythematosus. (PubMed id 12634240)1, 4, 9 Correa P.A....Anaya J.M. (2003)
- Lack of association between gene polymorphism of transporters associated with antigen processing and allergic rhinitis in a Japanese population. (PubMed id 12018331)1, 4, 9 Takeuchi K....Sakakura Y. (2002)
- The human cytomegalovirus gene product US6 inhibits ATP binding by TAP. (PubMed id 11157746)1, 2, 9 Hewitt E.W.... Lehner P.J. (2001)
- Polymorphisms of transporter associated with antigen processing type 1 (TAP1), proteasome subunit beta type 9 (PSMB9) and their common promoter in African children with different manifestations of malaria. (PubMed id 15686587)1, 4, 9 Niesporek S....May J. (2005)
- Polymorphism of transporter associated with antigen presentation 1 as a potential determinant for severity of disease in recurrent respiratory papillomatosis caused by human papillomavirus types 6 and 11. (PubMed id 14976605)1, 4, 9 Vambutas A....Steinberg B.M. (2004)
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External Searches for TAP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing TAP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing TAP1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TAP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for TAP1 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for TAP1 | Genetics and Cytogenetics in Oncology and Haematology | | TAP1base | http://bioinf.uta.fi/TAP1base/ | | ABCMdb | http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q03518 |
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About This Section
| Patent Information for TAP1 gene:
Search GeneIP for patents involving TAP1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for TAP1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for TAP1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TAP1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TAP1 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for TAP1 | | OriGene 3'-UTR Clone for TAP1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TAP1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TAP1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAP1 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TAP1 |
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