ST3GAL5

From Wikipedia, the free encyclopedia

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

Identifiers

ST3GAL5; SIAT9; SIATGM3S; ST3GalV

External IDs

OMIM: 604402 MGI: 1339963 HomoloGene: 2893

Gene ontology
Molecular Function:	• neolactotetraosylceramide alpha-2,3-sialyltransferase activity • sialyltransferase activity • lactosylceramide alpha-2,3-sialyltransferase activity
Cellular Component:	• Golgi membrane • integral to plasma membrane • membrane • integral to Golgi membrane
Biological Process:	• ganglioside biosynthetic process • carbohydrate metabolic process • protein amino acid glycosylation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001042437 (mRNA)
NP_001035902 (protein)

NM_001035228 (mRNA)
NP_001030305 (protein)

Location

Chr 2: 85.92 - 85.97 Mb

Chr 6: 72.03 - 72.08 Mb

Pubmed search

[1]

[2]

ST3 beta-galactoside alpha-2,3-sialyltransferase 5, also known as ST3GAL5, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5.

[edit] Further reading

Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791-806. PMID 8889548.
Ishii A, Ohta M, Watanabe Y, et al. (1998). "Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase.". J. Biol. Chem. 273 (48): 31652-5. PMID 9822625.
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. 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. PMID 10619706.
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. 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. 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. 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. doi:10.1073/pnas.242603899. 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. 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. 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. 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.