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FLASH GENE

Symbol

TAPBP

contributors: mct - updated : 26-03-2014

HGNC name	TAP binding protein (tapasin)
HGNC id	11566

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BLS1C Bare lymphocyte syndrome type I
Location	6p21.3      Physical location : 4.499.713 - 33.282.164
Synonym name	TAP-associated glycoprotein
Synonym symbol(s)	TPN, TAPA, TPSN, NGS17

DNA

TYPE	functioning gene
STRUCTURE	14.70 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	with two alternatively spliced forms : normal and truncated protein (Cojeman)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003190 8 splicing 3779 variant1 47.6 448 - Turnquist a 8 exons variant containing exons 4b & 5b (shorter than 4a & 5a respectively) encoding for a 428 amino acids mature peptide (45.6 kDa) NM_172208 4 splicing 2003 variant 2 30.8 299 - Turnquist a 4 exons variant containing exon 4a (longer than 4b and containing exons 5, 6 & 7) encoding for a 279 amino acids mature peptide (29.8 kDa) NM_172209 7 splicing 3518 variant 3 43.85 412 - Turnquist a 5 exons variant containing exon 4b (shorter than 4a) containing exon 5a (longer than 5b) lacking exons 6, 7 & 8 encoding for a 392 amino acids mature peptide (41.9 kDa)

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 stomach       moderately Endocrine pancreas       moderately Lymphoid/Immune lymph node       moderately Nervous nerve       highly Reproductive female system uterus cervix   highly   female system breast mammary gland   highly   female system ovary     moderately   female system uterus     moderately Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 20 amino acids signal peptide (1.9 kDa)
	a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum
	two core domains of different sizes loosely linked by a flexible region
	an immunoglobuline-like C1-type domain

conjugated

GlycoP

isoforms

Precursor

a 428 amino acids mature peptide (45.6 kDa)

HOMOLOGY

interspecies	homolog to rattus Tapbp (75.84 pc)
	homolog to murine Tapbp (75.17 pc)

Homologene

FAMILY	immunoglobulin superfamily
	member of the MHC class I

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,microsome
text	type 1 membrane glycoprotein

basic FUNCTION	transporter associated with antigen processing, involved in the assembly and function of multimeric MHC class I-TAP complexes, linking the heavy chain to TAP
	may be involved in the redox regulation of components during assembly and peptide loading
	not only required for stabilization of TAP but also for optimization of the spectrum of bound peptides
	has an intrinsic ability to recruit MHC class I molecules and promote assembly, but also uses generic folding factors to enhance MHC class I recruitment and assembly
	central role in the assembly of the peptide-loading complex by stabilizing TAP expression, determining peptide selection, and maintaining an appropriate MHC class I redox status
	TAP1 and TAP-associated glycoprotein (TAPBP) play important roles in regulating MHC class I expression

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

a component	complexing with HLA-I, TAP1, TAP2
	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

protein	interacting with E2F1, an essential transcription factor for tapasin
	truncated actin P binding

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BLS1C

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in breast cancer, melanoma, colorectal carcinoma, cervical cancer, small cell and non-small cell lung carcinoma, fibrosarcoma, as well as bladder cancer

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS