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

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6890
Gene name Gene Name - the full gene name approved by the HGNC.
Transporter 1, ATP binding cassette subfamily B member
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TAP1
Synonyms (NCBI Gene) Gene synonyms aliases
ABC17, ABCB2, APT1, D6S114E, MHC1D1, PSF-1, PSF1, RING4, TAP1*0102N, TAP1N
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MHC1D1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.32
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs2228106 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs56366814 G>A Conflicting-interpretations-of-pathogenicity Intron variant
rs121917702 C>T Pathogenic, likely-benign Missense variant, coding sequence variant
rs1470217821 G>C Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(67)
miRTarBase ID miRNA Experiments Reference
MIRT006669 hsa-miR-346 Immunocytochemistry, In situ hybridization, qRT-PCR, Western blot 22002058
MIRT735979 hsa-miR-200a-5p Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR 32923135
MIRT756196 hsa-miR-330-3p Luciferase reporter assay, qRT-PCR 36119061
MIRT1411097 hsa-miR-1253 CLIP-seq
MIRT1411098 hsa-miR-1321 CLIP-seq
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(6)
Transcription factor Regulation Reference
IRF1 Activation 18694960
IRF1 Unknown 9632673
IRF2 Activation 15778351
NFKB1 Unknown 18694960
RELA Unknown 18694960
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(46)
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002474 Process Antigen processing and presentation of peptide antigen via MHC class I TAS
GO:0002479 Process Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
GO:0005515 Function Protein binding IPI 12213826, 15793001, 16828748, 17055437, 18802093, 19165146, 19201886, 19297616, 22810586, 26789246, 28514442, 30833792, 32296183
GO:0005524 Function ATP binding IDA 7673167, 11133832
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
170260 43 ENSG00000168394
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Q03518
Protein name Antigen peptide transporter 1 (APT1) (EC 7.4.2.14) (ATP-binding cassette sub-family B member 2) (Peptide supply factor 1) (Peptide transporter PSF1) (PSF-1) (Peptide transporter TAP1) (Peptide transporter involved in antigen processing 1) (Really interest
Protein 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:25377891, PubMed:
PDB 1JJ7 , 5U1D , 8T46 , 8T4E , 8T4F , 8T4G , 8T4H , 8T4I , 8T4J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00664 ABC_membrane 247 → 518 ABC transporter transmembrane region Family
PF00005 ABC_tran 581 → 731 ABC transporter Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in professional APCs monocytes and dendritic cells as well as in lymphocyte subsets T cells, B cells and NK cells. {ECO:0000269|PubMed:25656091, ECO:0000269|PubMed:9310490}.
Sequence 
MAELLASAGSACSWDFPRAPPSFPPPAASRGGLGGTRSFRPHRGAESPRPGRDRDGVRVP
MASSRCPAPRGCRCLPGASLAWLGTVLLLLADWVLLRTALPRIFSLLVPTALPLLRVWAV
GLSRWAVLWLGACGVLRATVGSKSENAGAQGWLAALKPLAAALGLALPGLALFRELISWG
APGSADSTRLLHWGSHPTAFVVSYAAALPAAALWHKLGSLWVPGGQGGSGNPVRRLLGCL
GSETRRLSLFLVLVVLSSLGEMAIPFFTGRLTDWILQDGSADTFTRNLTLMSILTIASAV
LEFVGDGIYNNTMGHVHSHLQGEVFGAVLRQETEFFQQNQTGNIMSRVTEDTSTLSDSLS
ENLSLFLWYLVRGLCLLGIMLWGSVSLTMVTLITLPLLFLLPKKVGKWYQLLEVQVRESL
AKSSQVAIEALSAMPTVRSFANEEGEAQKFREKLQEIKTLNQKEAVAYAVNSWTTSISGM
LLKVGILYIGGQLVTSGAVSSGNLVTFVLYQMQFTQAVEVLLSIYPRVQKAVGSSEKIFE
YLDRTPRCPPSGLLTPLHLEGLVQFQDVSFAYPNRPDVLVLQGLTFTLRPGEVTALVGPN
GSGKSTVAALLQNLYQPTGGQLLLDGKPLPQYEHRYLHRQVAAVGQEPQVFGRSLQENIA
YGLTQKPTMEEITAAAVKSGAHSFISGLPQGYDTEVDEAGSQLSGGQRQAVALARALIRK
PCVLILDDATSALDANSQLQVEQLLYESPERYSRSVLLITQHLSLVEQADHILFLEGGAI
REGGTHQQLMEKKGCYWAMVQAPADAPE
Sequence length 808
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Show/Hide Text Mining Associations (97)
Associations from Text Mining
Disease Name Relationship Type References
Alopecia Areata Associate 26782532
Aneuploidy Associate 36619767
Asthma Associate 12640628, 32867763
Autoimmune Diseases Associate 24175803, 28700671
Bare Lymphocyte Syndrome Type I Associate 10074495, 18668571
Basal Ganglia Diseases Associate 8611711
Biliary Atresia Associate 33128234
Breast Neoplasms Stimulate 11513878
Breast Neoplasms Associate 29091951, 31883395
Breast Neoplasms Inhibit 34313250