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

Identity

Alias (NCBI)ABC17
ABCB2
APT1
D6S114E
PSF-1
PSF1
RING4
TAP1*0102N
TAP1N
HGNC (Hugo) TAP1
HGNC Alias symbPSF1
RING4
D6S114E
HGNC Previous nameABCB2
HGNC Previous nametransporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
LocusID (NCBI) 6890
Atlas_Id 42469
Location 6p21.32  [Link to chromosome band 6p21]
Location_base_pair Starts at 32845209 and ends at 32852761 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    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]  chr6:32845209-32852761 [Contig_View]  TAP1 [Vega]
ICGC DataPortalENSG00000168394
TCGA cBioPortalTAP1
AceView (NCBI)TAP1
Genatlas (Paris)TAP1
SOURCE (Princeton)TAP1
Genetics Home Reference (NIH)TAP1
Genomic and cartography
GoldenPath hg38 (UCSC)TAP1  -     chr6:32845209-32852761 -  6p21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TAP1  -     6p21.32   [Description]    (hg19-Feb_2009)
GoldenPathTAP1 - 6p21.32 [CytoView hg19]  TAP1 - 6p21.32 [CytoView hg38]
ImmunoBaseENSG00000168394
Genome Data Viewer NCBITAP1 [Mapview hg19]  
OMIM170260   604571   
Gene and transcription
Genbank (Entrez)AB012644 AH007357 AK093980 AK123494 AK130176
RefSeq transcript (Entrez)NM_000593 NM_001292022
Consensus coding sequences : CCDS (NCBI)TAP1
Gene ExpressionTAP1 [ NCBI-GEO ]   TAP1 [ EBI - ARRAY_EXPRESS ]   TAP1 [ SEEK ]   TAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)TAP1 [ Firebrowse - Broad ]
GenevisibleExpression of TAP1 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
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    Type_I_exporter   
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
PDB (RSDB)1JJ7    5U1D   
PDB Europe1JJ7    5U1D   
PDB (PDBSum)1JJ7    5U1D   
PDB (IMB)1JJ7    5U1D   
Structural Biology KnowledgeBase1JJ7    5U1D   
SCOP (Structural Classification of Proteins)1JJ7    5U1D   
CATH (Classification of proteins structures)1JJ7    5U1D   
SuperfamilyQ03518
AlphaFold pdb e-kbQ03518   
Human Protein Atlas [tissue]ENSG00000168394-TAP1 [tissue]
HPRD01359
Protein Interaction databases
DIP (DOE-UCLA)Q03518
IntAct (EBI)Q03518
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  defense response  protein transport  ABC-type peptide antigen transporter activity  ABC-type peptide antigen transporter activity  ABC-type peptide antigen transporter activity  ABC-type peptide transporter activity  peptide transport  peptide transport  membrane  integral component of membrane  integral component of membrane  antigen processing and presentation of endogenous peptide antigen via MHC class I  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  centriolar satellite  MHC class I protein binding  peptide antigen binding  peptide antigen binding  ATPase-coupled transmembrane transporter activity  protein homodimerization activity  MHC class I peptide loading complex  MHC class I peptide loading complex  TAP complex  ADP binding  metal ion binding  cytosol to endoplasmic reticulum transport  TAP1 binding  TAP1 binding  TAP2 binding  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  defense response  protein transport  ABC-type peptide antigen transporter activity  ABC-type peptide antigen transporter activity  ABC-type peptide antigen transporter activity  ABC-type peptide transporter activity  peptide transport  peptide transport  membrane  integral component of membrane  integral component of membrane  antigen processing and presentation of endogenous peptide antigen via MHC class I  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  centriolar satellite  MHC class I protein binding  peptide antigen binding  peptide antigen binding  ATPase-coupled transmembrane transporter activity  protein homodimerization activity  MHC class I peptide loading complex  MHC class I peptide loading complex  TAP complex  ADP binding  metal ion binding  cytosol to endoplasmic reticulum transport  TAP1 binding  TAP1 binding  TAP2 binding  transmembrane transport  peptide transmembrane transporter activity  peptide transmembrane transporter activity  vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane  
Pathways : BIOCARTAAntigen Processing and Presentation [Genes]   
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
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
MonarchTAP1
1000_GenomesTAP1 
Exome Variant ServerTAP1
GNOMAD BrowserENSG00000168394
Varsome BrowserTAP1
ACMGTAP1 variants
VarityQ03518
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]  
Somatic Mutations in Cancer : COSMIC3DTAP1
Mutations and Diseases : HGMDTAP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTAP1
DgiDB (Drug Gene Interaction Database)TAP1
DoCM (Curated mutations)TAP1
CIViC (Clinical Interpretations of Variants in Cancer)TAP1
Cancer3DTAP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM170260    604571   
Orphanet10349   
DisGeNETTAP1
MedgenTAP1
Genetic Testing Registry TAP1
NextProtQ03518 [Medical]
GENETestsTAP1
Target ValidationTAP1
Huge Navigator TAP1 [HugePedia]
ClinGenTAP1
Clinical trials, drugs, therapy
MyCancerGenomeTAP1
Protein Interactions : CTDTAP1
Pharm GKB GenePA35021
PharosQ03518
Clinical trialTAP1
Miscellaneous
canSAR (ICR)TAP1
HarmonizomeTAP1
DataMed IndexTAP1
Probes
Litterature
PubMed259 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:34:14 CEST 2021

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