ST3GAL5

ST3GAL5
Identifiers
Aliases	ST3GAL5 , SATI, SIAT9, SIATGM3S, ST3GalV, ST3 beta-galactoside alpha-2,3-sialyltransferase 5, SPDRS, ST3Gal V
External IDs	OMIM: 604402 MGI: 1339963 HomoloGene: 2893 GeneCards: ST3GAL5
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p11.2 Start 85,837,120 bp [1] End 85,905,199 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6|6 C1 Start 72,074,576 bp [2] End 72,131,555 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Right adrenal gland Left adrenal gland right lobe of thyroid gland left lobe of thyroid gland middle temporal gyrus putamen Brodmann area 9 prefrontal cortex corpus callosum nucleus accumbens Top expressed in adrenal gland soleus muscle blood superior frontal gyrus temporal muscle sternocleidomastoid muscle primary motor cortex cingulate gyrus cerebellar cortex entorhinal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity lactosylceramide alpha-2,3-sialyltransferase activity glycosyltransferase activity neolactotetraosylceramide alpha-2,3-sialyltransferase activity sialyltransferase activity beta-galactoside (CMP) alpha-2,3-sialyltransferase activity Cellular component integral component of membrane Golgi apparatus membrane integral component of plasma membrane Golgi membrane Biological process glycosphingolipid biosynthetic process protein glycosylation oligosaccharide metabolic process sialylation protein N-linked glycosylation via asparagine ganglioside biosynthetic process carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8869 20454 Ensembl ENSG00000115525 ENSMUSG00000056091 UniProt Q9UNP4 O88829 RefSeq (mRNA) NM_001042437 NM_003896 NM_001354226 NM_001354227 NM_001354233 NM_001354234 NM_001354238 NM_001354247 NM_001354248 NM_001354223 NM_001354224 NM_001354229 NM_001363847 NM_001035228 NM_011375 RefSeq (protein) NP_001035902 NP_003887 NP_001341155 NP_001341156 NP_001341162 NP_001341163 NP_001341167 NP_001341176 NP_001341177 NP_001341152 NP_001341153 NP_001341158 NP_001350776 NP_001030305 NP_035505 Location (UCSC) Chr 2: 85.84 – 85.91 Mb Chr 6: 72.07 – 72.13 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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)

References

1. GRCh38: Ensembl release 89: ENSG00000115525 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000056091 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5".

Further reading

• 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.