ST3GAL5: Difference between revisions

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{{Infobox_gene}}
{{Infobox_gene}}
'''Lactosylceramide alpha-2,3-sialyltransferase''' is an [[enzyme]] that in humans is encoded by the ''ST3GAL5'' [[gene]].<ref name="pmid9822625">{{cite journal | vauthors = Ishii A, Ohta M, Watanabe Y, Matsuda K, Ishiyama K, Sakoe K, Nakamura M, Inokuchi J, Sanai Y, Saito M | title = Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase | journal = J Biol Chem | volume = 273 | issue = 48 | pages = 31652–5 |date=Dec 1998 | pmid = 9822625 | pmc =  | doi =10.1074/jbc.273.48.31652  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8869| accessdate = }}</ref>
'''Lactosylceramide alpha-2,3-sialyltransferase''' is an [[enzyme]] that in humans is encoded by the ''ST3GAL5'' [[gene]].<ref name="pmid9822625">{{cite journal | vauthors = Ishii A, Ohta M, Watanabe Y, Matsuda K, Ishiyama K, Sakoe K, Nakamura M, Inokuchi J, Sanai Y, Saito M | title = Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase | journal = J Biol Chem | volume = 273 | issue = 48 | pages = 31652–5 |date=Dec 1998 | pmid = 9822625 | pmc =  | doi =10.1074/jbc.273.48.31652  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8869| accessdate = }}</ref>
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{{PBB_Summary
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| section_title =  
| summary_text = 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.<ref name="entrez" />
| summary_text = [[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.<ref name="entrez" />
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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)
[[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 [[skin pigmentation|dermal pigmentation]]. (doi: 10.1093/hmg/ddt434)


==References==
==References==

Latest revision as of 21:51, 20 February 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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n/a

RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  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. 2.0 2.1 "Entrez Gene: ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5".

Further reading