Property Summary

NCBI Gene PubMed Count 16
PubMed Score 12.47
PubTator Score 9.43

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
gastric cancer 1.100 0.037
Multiple myeloma 1.568 0.006
pancreatic ductal adenocarcinoma liver m... -1.957 0.001
tuberculosis and treatment for 6 months -1.300 0.026
pilocytic astrocytoma 1.300 0.000
aldosterone-producing adenoma -1.141 0.017
Breast cancer -1.200 0.000
invasive ductal carcinoma -1.100 0.004
ovarian cancer -2.100 0.000
Down syndrome 1.100 0.003

Synonym

Accession Q06136 B2R5Y1 B4DMX0 KDS reductase
Symbols DHSR
FVT1
SDR35C1

Gene

PANTHER Protein Class (2)

Gene RIF (7)

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

AA Sequence

MLLLAAAFLVAFVLLLYMVSPLISPKPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFITLVARNEDKLL      1 - 70
QAKKEIEMHSINDKQVVLCISVDVSQDYNQVENVIKQAQEKLGPVDMLVNCAGMAVSGKFEDLEVSTFER     71 - 140
LMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGLFGFTAYSASKFAIRGLAEALQMEVKPYNVY    141 - 210
ITVAYPPDTDTPGFAEENRTKPLETRLISETTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCG    211 - 280
MAPVTSITEGLQQVVTMGLFRTIALFYLGSFDSIVRRCMMQREKSENADKTA                      281 - 332
//

Text Mined References (17)

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).
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