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

2003-02-01 Affiliation

Identity

HGNC

TAP1

LOCATION

6p21.32

LOCUSID

6890

ALIAS

ABC17,ABCB2,APT1,D6S114E,PSF-1,PSF1,RING4,TAP1*0102N,TAP1N

FUSION GENES

Show Gene Fusions

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

Other Information

Locus ID:

NCBI: 6890
MIM: 170260
HGNC: 43
Ensembl: ENSG00000168394

Variants:

dbSNP: 6890
ClinVar: 6890
TCGA: ENSG00000168394
COSMIC: TAP1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000168394	ENST00000354258	Q03518
ENSG00000168394	ENST00000354258	A0A0S2Z5A6
ENSG00000168394	ENST00000643049	A0A0S2Z4R8

Expression (GTEx)

100

150

200

250

300

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
ABC transporters	KEGG	ko02010
Antigen processing and presentation	KEGG	ko04612
Primary immunodeficiency	KEGG	ko05340
ABC transporters	KEGG	hsa02010
Antigen processing and presentation	KEGG	hsa04612
Primary immunodeficiency	KEGG	hsa05340
Phagosome	KEGG	ko04145
Phagosome	KEGG	hsa04145
Herpes simplex infection	KEGG	ko05168
Herpes simplex infection	KEGG	hsa05168
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Class I MHC mediated antigen processing & presentation	REACTOME	R-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHC	REACTOME	R-HSA-983170
Antigen processing-Cross presentation	REACTOME	R-HSA-1236975
ER-Phagosome pathway	REACTOME	R-HSA-1236974

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
17703412	2007	Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.	100
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19851445	2009	High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.	51
22002058	2011	The unfolded protein response (UPR)-activated transcription factor X-box-binding protein 1 (XBP1) induces microRNA-346 expression that targets the human antigen peptide transporter 1 (TAP1) mRNA and governs immune regulatory genes.	47
14679198	2004	Functional dissection of the transmembrane domains of the transporter associated with antigen processing (TAP).	43
12857899	2003	Upregulation of major histocompatibility complex class I on liver cells by hepatitis C virus core protein via p53 and TAP1 impairs natural killer cell cytotoxicity.	42
19247692	2009	Analyses of associations with asthma in four asthma population samples from Canada and Australia.	39
19297616	2009	Structural arrangement of the transmission interface in the antigen ABC transport complex TAP.	36
20673868	2010	A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).	36
21207025	2011	Deficiency of activated STAT1 in head and neck cancer cells mediates TAP1-dependent escape from cytotoxic T lymphocytes.	36

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42469/tap1