TAPBP
entrez
6892
canonical
uniprot
O15533
canonical
ensembl
ENSG00000112493
resolver
ensembl
ENSG00000206208
resolver
ensembl
ENSG00000206281
resolver
ensembl
ENSG00000231925
resolver
ensembl
ENSG00000236490
resolver
ensp
ENSP00000363700
resolver
ensp
ENSP00000372542
resolver
ensp
ENSP00000372684
resolver
ensp
ENSP00000372685
resolver
ensp
ENSP00000378546
resolver
ensp
ENSP00000395701
resolver
ensp
ENSP00000402087
resolver
ensp
ENSP00000404833
resolver
ensp
ENSP00000407195
resolver
ensp
ENSP00000419659
resolver
ensp
ENSP00000447665
resolver
ensp
ENSP00000514506
resolver
ensp
ENSP00000651260
resolver
enst
ENST00000374572
resolver
enst
ENST00000383065
resolver
enst
ENST00000383197
resolver
enst
ENST00000383198
resolver
enst
ENST00000395114
resolver
enst
ENST00000417059
resolver
enst
ENST00000426633
resolver
enst
ENST00000456807
resolver
enst
ENST00000489157
resolver
enst
ENST00000551943
resolver
enst
ENST00000699657
resolver
genesymbol
TAPBP
resolver
genesymbol_syn
NGS17
resolver
genesymbol_syn
TAPA
resolver
hgnc
HGNC:11566
resolver
uniprot
A0A0A0MSV9
resolver
uniprot
A0A0A0MT98
resolver
uniprot
A0A8V8TQC5
resolver
uniprot
A2AB91
resolver
uniprot
A2ABC0
resolver
uniprot
B0V003
resolver
uniprot
B0V0A6
resolver
uniprot
B2ZUA4
resolver
uniprot
E9PGM2
resolver
uniprot
O15210
resolver
uniprot
O15272
resolver
uniprot
Q5STJ8
resolver
uniprot
Q5STK6
resolver
uniprot
Q5STQ5
resolver
uniprot
Q5STQ6
resolver
uniprot
Q66K65
resolver
uniprot
Q96KK7
resolver
uniprot
Q9HAN8
resolver
uniprot
Q9UEE0
resolver
uniprot
Q9UEE4
resolver
uniprot
Q9UIZ6
resolver
uniprot
Q9Y6K2
resolver
uniprot_entry
A0A0A0MSV9_HUMAN
resolver
uniprot_entry
A0A0A0MT98_HUMAN
resolver
uniprot_entry
A0A8V8TQC5_HUMAN
resolver
uniprot_entry
TPSN_HUMAN
resolver
uniprot_sec
A2AB91
resolver
uniprot_sec
A2ABC0
resolver
uniprot_sec
B0V003
resolver
uniprot_sec
B0V0A6
resolver
uniprot_sec
B2ZUA4
resolver
uniprot_sec
E9PGM2
resolver
uniprot_sec
O15210
resolver
uniprot_sec
O15272
resolver
uniprot_sec
Q5STJ8
resolver
uniprot_sec
Q5STK6
resolver
uniprot_sec
Q5STQ5
resolver
uniprot_sec
Q5STQ6
resolver
uniprot_sec
Q66K65
resolver
uniprot_sec
Q96KK7
resolver
uniprot_sec
Q9HAN8
resolver
uniprot_sec
Q9UEE0
resolver
uniprot_sec
Q9UEE4
resolver
uniprot_sec
Q9UIZ6
resolver
uniprot_sec
Q9Y6K2
resolver
amino_acid_sequence
MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHDPAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLRPQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQHLGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPTVQPFQEGTYLATIHLPYLQGQVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLSALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSAFLLLGLFKALGWAAVYLSTCKDSKKKAE
uniprot
proteins
disease_involvement
DISEASE: MHC class I deficiency 3 (MHC1D3) [MIM:620814]: An autosomal recessive disorder characterized by glomerulonephritis and markedly reduced cell surface expression of class I HLA antigens. Additional features are herpes zoster infection and polyps of the stomach and colon. {ECO:0000269|PubMed:12149238}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading). {ECO:0000269|PubMed:10636848, ECO:0000269|PubMed:12582157, ECO:0000269|PubMed:21263072, ECO:0000269|PubMed:26611325}.
uniprot
proteins
mass_dalton
47571
uniprot
proteins
mutagenesis
MUTAGEN 115; /note="C->A: Abolishes the recruitment of PDIA3, CALR and B2M to the peptide-loading complex."; /evidence="ECO:0000269|PubMed:21263072"; MUTAGEN 205; /note="E->K: Decreases cell surface expression of MR1-metabolite antigen complex; when associated with E-207, S-209 and S-281."; /evidence="ECO:0000269|PubMed:32958637"; MUTAGEN 207; /note="R->E: Decreases cell surface expression of MR1-metabolite antigen complex; when associated with E-205, S-209 and S-281."; /evidence="ECO:0000269|PubMed:32958637"; MUTAGEN 209; /note="Q->S: Decreases cell surface expression of MR1-metabolite antigen complex; when associated with E-205, S-207 and S-281."; /evidence="ECO:0000269|PubMed:32958637"; MUTAGEN 253; /note="N->Q: Reduces the recruitment of PDIA3 to TAP1-TAP2 transporter."; /evidence="ECO:0000269|PubMed:21263072"; MUTAGEN 270; /note="L->K: Decreases cell surface expression of MR1-metabolite antigen complex."; /evidence="ECO:0000269|PubMed:32958637"; MUTAGEN 281; /note="Q->S: Decreases cell surface expression of MR1-metabolite antigen complex; when associated with E-205, S-207 and S-209."; /evidence="ECO:0000269|PubMed:32958637"; MUTAGEN 428; /note="K->D: Restores interaction with TAP1-TAP2; when associated with TAP1 K-92 or TAP2 K-16."; /evidence="ECO:0000269|PubMed:26611325
uniprot
proteins
pubmed
10088603
uniprot
proteins
pubmed
10382748
uniprot
proteins
pubmed
10636848
uniprot
proteins
pubmed
12149238
uniprot
proteins
pubmed
12582157
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14668790
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19119025
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
20600451
uniprot
proteins
pubmed
21263072
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22638925
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26611325
uniprot
proteins
pubmed
32958637
uniprot
proteins
pubmed
9238042
uniprot
proteins
pubmed
9271576
uniprot
proteins
pubmed
9521053
uniprot
proteins
pubmed
9545376
uniprot
proteins
pubmed
9802609
uniprot
proteins
sequence_length
448
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 415..435; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins