| Tbio | 3-ketodihydrosphingosine reductase |
Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS).
The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]
The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count |
|---|---|
| Lymphoma, Follicular | 20 |
| Disease | Target Count | P-value |
|---|---|---|
| Breast cancer | 3098 | 3.3e-07 |
| ovarian cancer | 8491 | 1.4e-04 |
| pilocytic astrocytoma | 3086 | 4.2e-04 |
| pancreatic ductal adenocarcinoma liver metastasis | 1795 | 7.4e-04 |
| Down syndrome | 548 | 3.3e-03 |
| invasive ductal carcinoma | 2950 | 3.5e-03 |
| Multiple myeloma | 1327 | 6.4e-03 |
| aldosterone-producing adenoma | 664 | 1.7e-02 |
| tuberculosis and treatment for 6 months | 686 | 2.6e-02 |
| gastric cancer | 436 | 3.7e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| follicular lymphoma | 17 | 3.029 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| gastric cancer | 1.100 | 3.7e-02 |
| Multiple myeloma | 1.568 | 6.4e-03 |
| pancreatic ductal adenocarcinoma liver m... | -1.957 | 7.4e-04 |
| tuberculosis and treatment for 6 months | -1.300 | 2.6e-02 |
| pilocytic astrocytoma | 1.300 | 4.2e-04 |
| aldosterone-producing adenoma | -1.141 | 1.7e-02 |
| Breast cancer | -1.200 | 3.3e-07 |
| invasive ductal carcinoma | -1.100 | 3.5e-03 |
| ovarian cancer | -2.100 | 1.4e-04 |
| Down syndrome | 1.100 | 3.3e-03 |
| PMID | Text | |
|---|---|---|
| 20855565 | Observational study of gene-disease association. (HuGE Navigator) | |
| 19773279 | Observational study of gene-disease association. (HuGE Navigator) | |
| 19019774 | FVT1 is significantly underexpressed by germinal center-type diffuse large B-cell lymphoma compared with non-germinal center-type DLBCL, follicular lymphoma, & normal tonsil control samples. Increased expression of FVT1 correlated with decreased survival. | |
| 18395445 | Data show that mutations in FVT1 do not contribute significantly to the cause of motor neuron diseases in the human population. | |
| 17420465 | Describes an Ala-175 to Thr mutation in the bovine ortholog that causes spinal muscular atrophy. This residue is conserved in several species, including human. | |
| 16711541 | Observational study of gene-disease association. (HuGE Navigator) | |
| 15328338 | FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane |
MLLLAAAFLVAFVLLLYMVSPLISPKPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFITLVARNEDKLL 1 - 70 QAKKEIEMHSINDKQVVLCISVDVSQDYNQVENVIKQAQEKLGPVDMLVNCAGMAVSGKFEDLEVSTFER 71 - 140 LMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGLFGFTAYSASKFAIRGLAEALQMEVKPYNVY 141 - 210 ITVAYPPDTDTPGFAEENRTKPLETRLISETTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCG 211 - 280 MAPVTSITEGLQQVVTMGLFRTIALFYLGSFDSIVRRCMMQREKSENADKTA 281 - 332 //
| PMID | Year | Title | |
|---|---|---|---|
| 20855565 | 2010 | Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. | |
| 19946888 | 2010 | Defining the membrane proteome of NK cells. | |
| 19773279 | 2009 | Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. | |
| 19027726 | 2009 | The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. | |
| 19019774 | 2008 | Expression of the follicular lymphoma variant translocation 1 gene in diffuse large B-cell lymphoma correlates with subtype and clinical outcome. | |
| 18395445 | 2008 | Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders. | |
| 17420465 | 2007 | A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy. | |
| 16711541 | [Assessment of five thrombophilic genetic polymorphisms among couples with habitual abortion]. | ||
| 16177791 | 2005 | DNA sequence and analysis of human chromosome 18. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 15364918 | 2004 | Lateral diffusion of inositol 1,4,5-trisphosphate receptor type 1 is regulated by actin filaments and 4.1N in neuronal dendrites. | |
| 15328338 | 2004 | FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane. | |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. | |
| 12960700 | 2003 | Uterine tumor resembling ovarian sex cord tumor: report of a case with t(X;6)(p22.3;q23.1) and t(4;18)(q21.1;q21.3). | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | |
| 8417785 | 1993 | FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma. | |
| 7949096 | 1994 | B-cell non-Hodgkin's lymphoma cell line (Karpas 1106) with complex translocation involving 18q21.3 but lacking BCL2 rearrangement and expression. |
