Property Summary

NCBI Gene PubMed Count 22
PubMed Score 26.95
PubTator Score 14.41

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma 1.500 1.2e-05
group 4 medulloblastoma -1.200 9.2e-04
medulloblastoma, large-cell -1.600 5.5e-04
tuberculosis -2.400 1.3e-06
pancreatic ductal adenocarcinoma liver m... -2.806 1.4e-03
active Crohn's disease 1.078 2.2e-03
interstitial cystitis -2.200 2.7e-06
lung adenocarcinoma 1.028 1.8e-03
inflammatory breast cancer -1.200 1.5e-03
Pick disease -1.100 8.5e-04
ovarian cancer 1.200 1.7e-02

Gene RIF (5)

PMID Text
27023786 The relationship between C-peptide concentrations and D5D enzyme activity estimates remained significant after adjusting for body mass index, waist circumference, and TNF-alpha.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20144677 The EGR3 may not play a major role in schizophrenia susceptibility in the Chinese Han population.
18660489 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDHALMKHPQFLK      1 - 70
NQVRREIKFTVQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELVVSIISFLFFTDMFIYWIHRG     71 - 140
LHHRLVYKRLHKPHHIWKIPTPFASHAFHPIDGFLQSLPYHIYPFIFPLHKVVYLSLYILVNIWTISIHD    141 - 210
GDFRVPQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSH    211 - 280
SGNGCKNEKLFNGEFTKTE                                                       281 - 299
//

Text Mined References (23)

PMID Year Title
27023786 2016 Relationship between Body Mass Index, C-Peptide, and Delta-5-Desaturase Enzyme Activity Estimates in Adult Males.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20144677 2010 No association between EGR gene family polymorphisms and schizophrenia in the Chinese population.
18660489 2008 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12812989 2003 Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12189593 2002 Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
11731337 2001 Molecular cloning and structural analysis of human sterol C5 desaturase.
10786622 2000 cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant.
10769175 2000 cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid.
10601301 1999 Cloning, expression, and fatty acid regulation of the human delta-5 desaturase.
10344195 1999 Delta7-sterol-C5-desaturase: molecular characterization and functional expression of wild-type and mutant alleles.
8976377 1996 Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase.
8466936 1993 Evidence that liver microsomes of human neonates desaturate essential fatty acids.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7961720 1994 Properties and kinetics of membrane-bound enzymes when both the enzyme and substrate are components of the same microsomal membrane. Studies on lathosterol 5-desaturase.
7770068 1995 Fatty acid delta 5 desaturation in rat liver cell nuclei.
7560069 1995 Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.