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FLASH GENE

Symbol

TAP1

contributors: mct - updated : 01-12-2016

HGNC name	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
HGNC id	43

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BLS1B bare lymphocyte syndrome type IB
Location	6p21.32      Physical location : 4.045.093 - 32.821.748
Synonym name	antigen peptide transporter 1
	transporter associated with antigen processing 1
Synonym symbol(s)	CIM, HAM1, MTP1, RING4, ABCB2, PSF1, ABC17, ATP1, TAP1N, D6S114E, MDR/TAP

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	located in the major histocompatibility complex class II region
STRUCTURE	8.76 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	nonfunctiomnal TAP1 promoter polymorphism in tumors

MAPPING

cloned

Y

linked

Y

status

confirmed

Map

see RING@

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000593 11 - 2974 NP_000584 - 808 - 1992 1453454 NM_001292022 11 - 2234 NP_001278951 - 547 - 1992 1453454

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       highly Lymphoid/Immune lymph node       moderately   spleen       highly   thymus       highly Reproductive female system uterus cervix   moderately Urinary bladder       highly

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal transmembrane domain (six segments), and three tapasin binding sites, two of which are located in the N-terminal domains of TAP1 and TAP2
	the third tapasin binding site is present in the core transmembrane (TM) domain of TAP1 and is used only by the unassembled subunits
	a nucleotide binding domain
	a C terminal ABC ATPase domain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	homolog to rattus Tap1 (72.60 pc)
	homolog to murine Tap1 (73.06 pc)

Homologene

FAMILY	ATP binding cassette superfamily
	subfamily B (MDR/TAP)

CATEGORY

immunity/defense , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	transporting cytosolic peptides, generated by the proteasome, to the ER lumen for loading onto MHC class I molecules
	involved in multidrug resistance
	playing a key role in antigen processing and presentation
	transporter associated with antigen processing (TAP1 and TAP2) represents a focal point in the immune recognition of virally or malignantly transformed cells by translocating proteasomal degradation products into the endoplasmic reticulum-lumen for loading of MHC class I molecules
	TAP1, TAP2 binds to peptide-receptive MHC class I molecules to form the MHC class I peptide-loading complex (PLC)
	normal influx of TAP1, TAP2-transported peptides in the ER during routine processing creates an efficient barrier for peptides from alternative processing routes
	TAP1, TAP2 translocates cellular peptides across the endoplasmic reticulum membrane in an ATP hydrolysis-dependent manner
	TAP1 and TAP-associated glycoprotein (TAPBP) play important roles in regulating MHC class I expression

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component with TAP2 of a heterodimer, component of a functional peptide-transporting complex with HLA-I and TAPBP
	ER-resident peptide-loading complex (PLC) consists of the transporter associated with antigen processing (TAP1 and TAP2), assembled with the auxiliary factors TAPBP and MHC I
	TAP1, TAP2/TAPBP complex formation is driven by hydrophobic interactions via leucine zipper-like motifs

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	MHC-linked transporter associated with antigen processing 1
	ABCB3

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BLS1B

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   correlated with a more aggressive phenotype as well as worse prognosis in hepatocellular carcinoma patients

Susceptibility

to ankylosing spondytitis to alopecia areata (AA)

Variant & Polymorphism SNP	association between a promoter SNP (rs2071480) and susceptibility to AA

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive liver inhibition of TAP1 might provide new therapeutic approaches for HCC

ANIMAL & CELL MODELS