| Tbio | Tapasin |
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).
This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Bare Lymphocyte Syndrome, Type I | 4 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| juvenile dermatomyositis | 1187 | 9.9e-11 |
| ovarian cancer | 8520 | 4.0e-07 |
| Atopic dermatitis | 952 | 1.6e-05 |
| osteosarcoma | 7950 | 8.4e-05 |
| psoriasis | 6694 | 2.1e-04 |
| lung cancer | 4740 | 1.1e-03 |
| oligodendroglioma | 2850 | 1.7e-03 |
| astrocytoma | 1146 | 2.0e-03 |
| glioblastoma | 5792 | 3.4e-03 |
| COPD | 118 | 4.7e-03 |
| ependymoma | 4679 | 5.7e-03 |
| esophageal adenocarcinoma | 737 | 1.8e-02 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 2.4e-02 |
| acute myeloid leukemia | 783 | 3.0e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Rheumatoid arthritis | 1191 | 0.0 | 1.2 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| MHC class I deficiency | 5 | 4.226 | 2.1 |
| Disease | Target Count |
|---|---|
| Bare lymphocyte syndrome type 1 | 4 |
| Disease | log2 FC | p |
|---|---|---|
| acute myeloid leukemia | 1.200 | 3.0e-02 |
| astrocytoma | 1.900 | 2.0e-03 |
| Atopic dermatitis | 1.400 | 1.6e-05 |
| COPD | -1.200 | 4.7e-03 |
| ependymoma | 1.200 | 5.7e-03 |
| esophageal adenocarcinoma | 1.200 | 1.8e-02 |
| glioblastoma | 1.300 | 3.4e-03 |
| intraductal papillary-mucinous carcinoma... | 1.100 | 2.4e-02 |
| juvenile dermatomyositis | 1.486 | 9.9e-11 |
| lung cancer | -1.300 | 1.1e-03 |
| oligodendroglioma | 1.300 | 1.7e-03 |
| osteosarcoma | 1.081 | 8.4e-05 |
| ovarian cancer | 2.800 | 4.0e-07 |
| psoriasis | -1.600 | 2.1e-04 |
MKSLSLLLAVALGLATAVSAGPAVIECWFVEDASGKGLAKRPGALLLRQGPGEPPPRPDLDPELYLSVHD 1 - 70 PAGALQAAFRRYPRGAPAPHCEMSRFVPLPASAKWASGLTPAQNCPRALDGAWLMVSISSPVLSLSSLLR 71 - 140 PQPEPQQEPVLITMATVVLTVLTHTPAPRVRLGQDALLDLSFAYMPPTSEAASSLAPGPPPFGLEWRRQH 141 - 210 LGKGHLLLAATPGLNGQMPAAQEGAVAFAAWDDDEPWGPWTGNGTFWLPRVQPFQEGTYLATIHLPYLQG 211 - 280 QVTLELAVYKPPKVSLMPATLARAAPGEAPPELLCLVSHFYPSGGLEVEWELRGGPGGRSQKAEGQRWLS 281 - 350 ALRHHSDGSVSLSGHLQPPPVTTEQHGARYACRIHHPSLPASGRSAEVTLEVAGLSGPSLEDSVGLFLSA 351 - 420 FLLLGLFKALGWAAVYLSTCKDSKKKAE 421 - 448 //
