ST3GAL5

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ST3 beta-galactoside alpha-2,3-sialyltransferase 5
Identifiers
Symbols ST3GAL5 ; SATI; SIAT9; SIATGM3S; ST3GalV
External IDs OMIM604402 MGI1339963 HomoloGene2893 GeneCards: ST3GAL5 Gene
EC number 2.4.99.9
RNA expression pattern
PBB GE ST3GAL5 203217 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8869 20454
Ensembl ENSG00000115525 ENSMUSG00000056091
UniProt Q9UNP4 O88829
RefSeq (mRNA) NM_001042437 NM_001035228
RefSeq (protein) NP_001035902 NP_001030305
Location (UCSC) Chr 2:
86.07 – 86.12 Mb
Chr 6:
72.1 – 72.15 Mb
PubMed search [1] [2]

Lactosylceramide alpha-2,3-sialyltransferase is an enzyme that in humans is encoded by the ST3GAL5 gene.[1][2]

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.[2]

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

Further reading[edit]