ST3GAL5

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ST3GAL5
Identifiers
AliasesST3GAL5, SATI, SIAT9, SIATGM3S, ST3GalV, ST3 beta-galactoside alpha-2,3-sialyltransferase 5, SPDRS, ST3Gal V
External IDsMGI: 1339963 HomoloGene: 2893 GeneCards: ST3GAL5
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for ST3GAL5
Genomic location for ST3GAL5
Band2p11.2Start85,837,120 bp[1]
End85,905,199 bp[1]
RNA expression pattern
PBB GE ST3GAL5 203217 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001035228
NM_011375

RefSeq (protein)

NP_001030305
NP_035505

Location (UCSC)Chr 2: 85.84 – 85.91 MbChr 6: 72.1 – 72.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115525 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056091 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  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. ^ a b "Entrez Gene: ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5".

Further reading[edit]