Property Summary

NCBI Gene PubMed Count 16
PubMed Score 34.56
PubTator Score 197.86

Knowledge Summary

Patent

No data available

Gene RIF (7)

PMID Text
23160995 This study highlights a close interaction between CLN5/CLN8 proteins, and their role in sphingolipid metabolism. Our findings suggest that CLN5p/CLN8p most likely are positive modulators of CerS1 and/or CerS2.
22180294 Moreover, an alternatively spliced variant CerS1 mRNA (CerS1-2) was detected mainly in cancer cells or primary tumour tissues compared to controls, which was targeted by miR-574-5p for degradation
20569235 The variation in LASS1 is functional, causing enhanced expression of the gene, and it contributes to healthy aging and greater survival in the tenth decade of life.
20569235 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19800881 The study suggests that diverse stresses initiate responses through different signaling pathways, which ultimately converge to regulate CerS1 localization.
15317812 LAG1 and C18-ceramide have roles in the regulation of growth of HNSCC
12105227 regulates N-stearoyl-sphinganine (C18-(dihydro)ceramide) synthesis in a fumonisin B1-independent manner in mammalian cel

AA Sequence

MAAAGPAAGPTGPEPMPSYAQLVQRGWGSALAAARGCTDCGWGLARRGLAEHAHLAPPELLLLALGALGW      1 - 70
TALRSAATARLFRPLAKRCCLQPRDAAKMPESAWKFLFYLGSWSYSAYLLFGTDYPFFHDPPSVFYDWTP     71 - 140
GMAVPRDIAAAYLLQGSFYGHSIYATLYMDTWRKDSVVMLLHHVVTLILIVSSYAFRYHNVGILVLFLHD    141 - 210
ISDVQLEFTKLNIYFKSRGGSYHRLHALAADLGCLSFGFSWFWFRLYWFPLKVLYATSHCSLRTVPDIPF    211 - 280
YFFFNALLLLLTLMNLYWFLYIVAFAAKVLTGQVHELKDLREYDTAEAQSLKPSKAEKPLRNGLVKDKRF    281 - 350
//

Text Mined References (18)

PMID Year Title
24782409 2014 Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
23160995 2012 CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22180294 2012 Concerted functions of HDAC1 and microRNA-574-5p repress alternatively spliced ceramide synthase 1 expression in human cancer cells.
20569235 2010 HRAS1 and LASS1 with APOE are associated with human longevity and healthy aging.
19800881 2010 Stress-induced ER to Golgi translocation of ceramide synthase 1 is dependent on proteasomal processing.
18541923 2008 2-Hydroxy-ceramide synthesis by ceramide synthase family: enzymatic basis for the preference of FA chain length.
17699106 2007 (Dihydro)ceramide synthase 1 regulated sensitivity to cisplatin is associated with the activation of p38 mitogen-activated protein kinase and is abrogated by sphingosine kinase 1.
17548428 2007 Mechanisms of ceramide-mediated repression of the human telomerase reverse transcriptase promoter via deacetylation of Sp3 by histone deacetylase 1.
15823095 2005 Mammalian Lass6 and its related family members regulate synthesis of specific ceramides.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15317812 2004 Defects in cell growth regulation by C18:0-ceramide and longevity assurance gene 1 in human head and neck squamous cell carcinomas.
15057824 2004 The DNA sequence and biology of human chromosome 19.
12869556 2003 Human homologues of LAG1 reconstitute Acyl-CoA-dependent ceramide synthesis in yeast.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12105227 2002 Upstream of growth and differentiation factor 1 (uog1), a mammalian homolog of the yeast longevity assurance gene 1 (LAG1), regulates N-stearoyl-sphinganine (C18-(dihydro)ceramide) synthesis in a fumonisin B1-independent manner in mammalian cells.
9872981 1998 Homologs of the yeast longevity gene LAG1 in Caenorhabditis elegans and human.
2034669 1991 Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure.