| 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 |
|---|---|
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder) | 1 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8492 | 2.24604780169024E-10 |
| lung adenocarcinoma | 2714 | 1.45115232279741E-8 |
| medulloblastoma, large-cell | 6234 | 2.77074332100079E-6 |
| inflammatory breast cancer | 404 | 7.96037242884382E-4 |
| Multiple myeloma | 1328 | 0.00100630465174485 |
| pancreatic ductal adenocarcinoma liver metastasis | 1795 | 0.00717454335133454 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2988 | 0.0117137334093317 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Methylmalonic acidemia | 39 | 5.301 | 2.7 |
| Subclavian artery aneurysm | 7 | 4.402 | 2.2 |
| Homocystinuria | 23 | 4.374 | 2.2 |
| Vitamin B12 deficiency | 20 | 4.207 | 2.1 |
| Anisakiasis | 3 | 3.466 | 1.7 |
| Megaloblastic anemia | 18 | 3.114 | 1.6 |
| Disease | Target Count |
|---|---|
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 1 |
| Disease | Target Count |
|---|---|
| Methylmalonic aciduria and homocystinuria type cblF | 1 |
| Disease | log2 FC | p |
|---|---|---|
| Multiple myeloma | 1.621 | 0.001 |
| medulloblastoma, large-cell | -1.700 | 0.000 |
| pancreatic ductal adenocarcinoma liver m... | -2.317 | 0.007 |
| intraductal papillary-mucinous carcinoma... | -1.100 | 0.012 |
| lung adenocarcinoma | -1.100 | 0.000 |
| inflammatory breast cancer | -1.100 | 0.001 |
| ovarian cancer | -2.600 | 0.000 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA EggNOG Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Chicken | OMA EggNOG Inparanoid |
| Anole lizard | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| Zebrafish | OMA Inparanoid |
| PMID | Text |
|---|---|
| 25535791 | Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC. |
| 24078630 | LMBD1 plays an imperative role in mediating and regulating the endocytosis of the IR. |
| 23175358 | These data indicate that by forming complexes with lamin A/C and nucleoporins, NESI facilitates the CRM1-independent nuclear export of large hepatitis delta antigen. |
| 21303734 | novel mutations in LMBRD1 in three patients |
| 20446115 | LMBRD1: the gene for the cblF defect of vitamin B metabolism. |
| 20127417 | a LMBRD1 mutation causes the cblF defect of vitamin B(12) metabolism in a Turkish patient [case report] |
| 19136951 | LMBRD1 is the gene underlying the cblF defect of cobalamin metabolism and suggests that LMBD1 is a lysosomal membrane exporter for cobalamin. |
MATSGAASAELVIGWCIFGLLLLAILAFCWIYVRKYQSRRESEVVSTITAIFSLAIALITSALLPVDIFL 1 - 70 VSYMKNQNGTFKDWANANVSRQIEDTVLYGYYTLYSVILFCVFFWIPFVYFYYEEKDDDDTSKCTQIKTA 71 - 140 LKYTLGFVVICALLLLVGAFVPLNVPNNKNSTEWEKVKSLFEELGSSHGLAALSFSISSLTLIGMLAAIT 141 - 210 YTAYGMSALPLNLIKGTRSAAYERLENTEDIEEVEQHIQTIKSKSKDGRPLPARDKRALKQFEERLRTLK 211 - 280 KRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDSGFIIFGANLSN 281 - 350 PLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLI 351 - 420 VLHTSYMIYSLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRTYLFLHKFWFF 421 - 490 SAAYYFGNWAFLGVFLIGLIVSCCKGKKSVIEGVDEDSDISDDEPSVYSA 491 - 540 //
| PMID | Year | Title |
|---|---|---|
| 27456980 | 2016 | Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1. |
| 25535791 | Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4. | |
| 24078630 | 2013 | LMBD1 protein serves as a specific adaptor for insulin receptor internalization. |
| 23175358 | 2013 | Nuclear export signal-interacting protein forms complexes with lamin A/C-Nups to mediate the CRM1-independent nuclear export of large hepatitis delta antigen. |
| 21303734 | 2011 | Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism. |
| 20446115 | 2011 | LMBRD1: the gene for the cblF defect of vitamin B?? metabolism. |
| 20339536 | 2010 | Genome-wide association of lipid-lowering response to statins in combined study populations. |
| 20127417 | 2010 | A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient. |
| 20068231 | 2010 | Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. |
| 19946888 | 2010 | Defining the membrane proteome of NK cells. |
| More... |
