Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TAP1 (transporter 1, ATP binding cassette subfamily B member)

Identity

Alias_namesABCB2
transporter 1
Alias_symbol (synonym)PSF1
RING4
D6S114E
Other aliasABC17
APT1
PSF-1
TAP1*0102N
TAP1N
HGNC (Hugo) TAP1
LocusID (NCBI) 6890
Atlas_Id 42469
Location 6p21.32  [Link to chromosome band 6p21]
Location_base_pair Starts at 32845209 and ends at 32852787 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PAFAH1B1 (17p13.3) / TAP1 (6p21.32)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TAP1   43
LRG (Locus Reference Genomic)LRG_166
Cards
Entrez_Gene (NCBI)TAP1  6890  transporter 1, ATP binding cassette subfamily B member
AliasesABC17; ABCB2; APT1; D6S114E; 
PSF-1; PSF1; RING4; TAP1*0102N; TAP1N
GeneCards (Weizmann)TAP1
Ensembl hg19 (Hinxton)ENSG00000168394 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168394 [Gene_View]  ENSG00000168394 [Sequence]  chr6:32845209-32852787 [Contig_View]  TAP1 [Vega]
ICGC DataPortalENSG00000168394
TCGA cBioPortalTAP1
AceView (NCBI)TAP1
Genatlas (Paris)TAP1
WikiGenes6890
SOURCE (Princeton)TAP1
Genetics Home Reference (NIH)TAP1
Genomic and cartography
GoldenPath hg38 (UCSC)TAP1  -     chr6:32845209-32852787 -  6p21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TAP1  -     6p21.32   [Description]    (hg19-Feb_2009)
EnsemblTAP1 - 6p21.32 [CytoView hg19]  TAP1 - 6p21.32 [CytoView hg38]
Mapping of homologs : NCBITAP1 [Mapview hg19]  TAP1 [Mapview hg38]
OMIM170260   604571   
Gene and transcription
Genbank (Entrez)AB012644 AH007357 AK093980 AK123494 AK130176
RefSeq transcript (Entrez)NM_000593 NM_001292022
RefSeq genomic (Entrez)NC_000006 NG_011759 NT_113891 NT_167244 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)TAP1
Cluster EST : UnigeneHs.731555 [ NCBI ]
CGAP (NCI)Hs.731555
Alternative Splicing GalleryENSG00000168394
Gene ExpressionTAP1 [ NCBI-GEO ]   TAP1 [ EBI - ARRAY_EXPRESS ]   TAP1 [ SEEK ]   TAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)TAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6890
GTEX Portal (Tissue expression)TAP1
Human Protein AtlasENSG00000168394-TAP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ03518   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ03518  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ03518
Splice isoforms : SwissVarQ03518
PhosPhoSitePlusQ03518
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC1_TM_dom    ABC1_TM_sf    ABC_Tap-like    ABC_transporter-like    ABC_transporter_CS    P-loop_NTPase    Tap1/ABCB2   
Domain families : Pfam (Sanger)ABC_membrane (PF00664)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00664    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)TAP1
DMDM Disease mutations6890
Blocks (Seattle)TAP1
PDB (SRS)1JJ7    5U1D   
PDB (PDBSum)1JJ7    5U1D   
PDB (IMB)1JJ7    5U1D   
PDB (RSDB)1JJ7    5U1D   
Structural Biology KnowledgeBase1JJ7    5U1D   
SCOP (Structural Classification of Proteins)1JJ7    5U1D   
CATH (Classification of proteins structures)1JJ7    5U1D   
SuperfamilyQ03518
Human Protein Atlas [tissue]ENSG00000168394-TAP1 [tissue]
Peptide AtlasQ03518
HPRD01359
IPIIPI00646625   IPI00876958   IPI00894417   
Protein Interaction databases
DIP (DOE-UCLA)Q03518
IntAct (EBI)Q03518
FunCoupENSG00000168394
BioGRIDTAP1
STRING (EMBL)TAP1
ZODIACTAP1
Ontologies - Pathways
QuickGOQ03518
Ontology : AmiGOadaptive immune response  antigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  protein binding  ATP binding  ATP binding  endoplasmic reticulum  endoplasmic reticulum membrane  microtubule organizing center  defense response  protein transport  peptide antigen-transporting ATPase activity  peptide transport  membrane  integral component of membrane  integral component of membrane  viral process  antigen processing and presentation of endogenous peptide antigen via MHC class I  MHC class Ib protein binding  integral component of endoplasmic reticulum membrane  phagocytic vesicle membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  MHC class I protein binding  peptide antigen binding  ATPase activity, coupled to transmembrane movement of substances  protein homodimerization activity  TAP complex  ADP binding  cytosol to ER transport  TAP1 binding  TAP2 binding  transmembrane transport  transmembrane transport  peptide transmembrane transporter activity  peptide transmembrane transporter activity  vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane  
Ontology : EGO-EBIadaptive immune response  antigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  protein binding  ATP binding  ATP binding  endoplasmic reticulum  endoplasmic reticulum membrane  microtubule organizing center  defense response  protein transport  peptide antigen-transporting ATPase activity  peptide transport  membrane  integral component of membrane  integral component of membrane  viral process  antigen processing and presentation of endogenous peptide antigen via MHC class I  MHC class Ib protein binding  integral component of endoplasmic reticulum membrane  phagocytic vesicle membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  MHC class I protein binding  peptide antigen binding  ATPase activity, coupled to transmembrane movement of substances  protein homodimerization activity  TAP complex  ADP binding  cytosol to ER transport  TAP1 binding  TAP2 binding  transmembrane transport  transmembrane transport  peptide transmembrane transporter activity  peptide transmembrane transporter activity  vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane  
Pathways : KEGGABC transporters    Phagosome    Antigen processing and presentation    Herpes simplex infection    Primary immunodeficiency   
NDEx NetworkTAP1
Atlas of Cancer Signalling NetworkTAP1
Wikipedia pathwaysTAP1
Orthology - Evolution
OrthoDB6890
GeneTree (enSembl)ENSG00000168394
Phylogenetic Trees/Animal Genes : TreeFamTAP1
HOVERGENQ03518
HOGENOMQ03518
Homologs : HomoloGeneTAP1
Homology/Alignments : Family Browser (UCSC)TAP1
Gene fusions - Rearrangements
Fusion : QuiverTAP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TAP1
dbVarTAP1
ClinVarTAP1
1000_GenomesTAP1 
Exome Variant ServerTAP1
ExAC (Exome Aggregation Consortium)ENSG00000168394
GNOMAD BrowserENSG00000168394
Varsome BrowserTAP1
Genetic variants : HAPMAP6890
Genomic Variants (DGV)TAP1 [DGVbeta]
DECIPHERTAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTAP1 
Mutations
ICGC Data PortalTAP1 
TCGA Data PortalTAP1 
Broad Tumor PortalTAP1
OASIS PortalTAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTAP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)TBsLVD Tuberculosis susceptibility Locus Variation Database
BioMutasearch TAP1
DgiDB (Drug Gene Interaction Database)TAP1
DoCM (Curated mutations)TAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TAP1 (select a term)
intoGenTAP1
Cancer3DTAP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM170260    604571   
Orphanet10349   
DisGeNETTAP1
MedgenTAP1
Genetic Testing Registry TAP1
NextProtQ03518 [Medical]
TSGene6890
GENETestsTAP1
Target ValidationTAP1
Huge Navigator TAP1 [HugePedia]
snp3D : Map Gene to Disease6890
BioCentury BCIQTAP1
ClinGenTAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6890
Chemical/Pharm GKB GenePA35021
Clinical trialTAP1
Miscellaneous
canSAR (ICR)TAP1 (select the gene name)
Probes
Litterature
PubMed241 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTAP1
EVEXTAP1
GoPubMedTAP1
iHOPTAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 27 11:56:20 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.