| Tbio | Probable lysosomal cobalamin transporter |
Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV).
This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]
This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 1 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder) | 1 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 2.2e-10 |
| lung adenocarcinoma | 2716 | 1.5e-08 |
| medulloblastoma, large-cell | 6241 | 2.8e-06 |
| inflammatory breast cancer | 286 | 8.0e-04 |
| Multiple myeloma | 1332 | 1.0e-03 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 7.2e-03 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 1.2e-02 |
| Disease | log2 FC | p |
|---|---|---|
| inflammatory breast cancer | -1.100 | 8.0e-04 |
| intraductal papillary-mucinous carcinoma... | -1.100 | 1.2e-02 |
| lung adenocarcinoma | -1.100 | 1.5e-08 |
| medulloblastoma, large-cell | -1.700 | 2.8e-06 |
| Multiple myeloma | 1.621 | 1.0e-03 |
| ovarian cancer | -2.600 | 2.2e-10 |
| pancreatic ductal adenocarcinoma liver m... | -2.317 | 7.2e-03 |
MATSGAASAELVIGWCIFGLLLLAILAFCWIYVRKYQSRRESEVVSTITAIFSLAIALITSALLPVDIFL 1 - 70 VSYMKNQNGTFKDWANANVSRQIEDTVLYGYYTLYSVILFCVFFWIPFVYFYYEEKDDDDTSKCTQIKTA 71 - 140 LKYTLGFVVICALLLLVGAFVPLNVPNNKNSTEWEKVKSLFEELGSSHGLAALSFSISSLTLIGMLAAIT 141 - 210 YTAYGMSALPLNLIKGTRSAAYERLENTEDIEEVEQHIQTIKSKSKDGRPLPARDKRALKQFEERLRTLK 211 - 280 KRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDSGFIIFGANLSN 281 - 350 PLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLI 351 - 420 VLHTSYMIYSLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRTYLFLHKFWFF 421 - 490 SAAYYFGNWAFLGVFLIGLIVSCCKGKKSVIEGVDEDSDISDDEPSVYSA 491 - 540 //
