From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Lactosylceramide alpha-2,3-sialyltransferase is an enzyme that in humans is encoded by the ST3GAL5 gene .[ 5] [ 6]
Ganglioside GM3 is known to participate in the induction of cell differentiation , modulation of cell proliferation , maintenance of fibroblast morphology, signal transduction , and integrin-mediated cell adhesion . The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus . Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene.[ 6]
Mutations in this gene have also been associated to ‘Salt & Pepper’ syndrome : an autosomal recessive condition characterized by severe intellectual disability , epilepsy , scoliosis , choreoathetosis , dysmorphic facial features and altered dermal pigmentation . (doi: 10.1093/hmg/ddt434)
^ a b c GRCh38: Ensembl release 89: ENSG00000115525 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056091 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Ishii A, Ohta M, Watanabe Y, Matsuda K, Ishiyama K, Sakoe K, Nakamura M, Inokuchi J, Sanai Y, Saito M (Dec 1998). "Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase" . J Biol Chem . 273 (48): 31652–5. doi :10.1074/jbc.273.48.31652 PMID 9822625 . ^ a b "Entrez Gene: ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5" .
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806. doi :10.1101/gr.6.9.791 PMID 8889548 . Fukumoto S, Miyazaki H, Goto G, et al. (1999). "Expression cloning of mouse cDNA of CMP-NeuAc:Lactosylceramide alpha2,3-sialyltransferase, an enzyme that initiates the synthesis of gangliosides" . J. Biol. Chem . 274 (14): 9271–6. doi :10.1074/jbc.274.14.9271 PMID 10092602 . Kapitonov D, Bieberich E, Yu RK (2000). "Combinatorial PCR approach to homology-based cloning: cloning and expression of mouse and human GM3-synthase". Glycoconj. J . 16 (7): 337–50. doi :10.1023/A:1007091926413 . PMID 10619706 . S2CID 24374714 . Allende ML, Li J, Darling DS, et al. (2000). "Evidence supporting a late Golgi location for lactosylceramide to ganglioside GM3 conversion" . Glycobiology . 10 (10): 1025–32. doi :10.1093/glycob/10.10.1025 PMID 11030748 . Kim KW, Kim SW, Min KS, et al. (2001). "Genomic structure of human GM3 synthase gene (hST3Gal V) and identification of mRNA isoforms in the 5'-untranslated region". Gene . 273 (2): 163–71. doi :10.1016/S0378-1119(01)00595-9 . PMID 11595162 . Kim SW, Lee SH, Kim KS, et al. (2002). "Isolation and characterization of the promoter region of the human GM3 synthase gene". Biochim. Biophys. Acta . 1578 (1–3): 84–9. doi :10.1016/s0167-4781(02)00505-5 . PMID 12393190 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Zeng G, Gao L, Xia T, et al. (2003). "Characterization of the 5'-flanking fragment of the human GM3-synthase gene". Biochim. Biophys. Acta . 1625 (1): 30–5. doi :10.1016/s0167-4781(02)00573-0 . PMID 12527423 . Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment" . Genome Res . 13 (10): 2265–70. doi :10.1101/gr.1293003 . PMC 403697 PMID 12975309 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Chung TW, Choi HJ, Lee YC, Kim CH (2005). "Molecular mechanism for transcriptional activation of ganglioside GM3 synthase and its function in differentiation of HL-60 cells" . Glycobiology . 15 (3): 233–44. doi :10.1093/glycob/cwh156 PMID 15385432 . Simpson MA, Cross H, Proukakis C, et al. (2004). "Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase" . Nat. Genet . 36 (11): 1225–9. doi :10.1038/ng1460 PMID 15502825 . Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4" . Nature . 434 (7034): 724–31. Bibcode :2005Natur.434..724H . doi :10.1038/nature03466 PMID 15815621 . Berselli P, Zava S, Sottocornola E, et al. (2006). "Human GM3 synthase: a new mRNA variant encodes an NH2-terminal extended form of the protein". Biochim. Biophys. Acta . 1759 (7): 348–58. doi :10.1016/j.bbaexp.2006.07.001 . PMID 16934889 . Szabo R, Skropeta D, et al. (2017). "Advancement of Sialyltransferase Inhibitors: Therapeutic Challenges and Opportunities" . Med. Res. Rev . 37 (2): 210–270. doi :10.1002/med.21407 . PMID 27678392 . S2CID 26280291 .
