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sialyltransferase 9; CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; alpha-2,3-sialyltransferase V; ganglioside GM3 synthase (SIAT9, ST3GAL5, ST3GALV)
Function:
- catalyzes the formation of ganglioside GM3
CMP-N-acetylneuraminate +
beta-D-galactosyl-1,4-beta-D-glucosylceramide
CMP + alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4- beta-D-glucosylceramide
Structure:
- N-glycosylated
- belongs to the glycosyltransferase 29 family
Compartment: Golgi membrane
Alternative splicing: named isoforms=3
Expression:
- ubiquitous
- high expression in brain, skeletal muscle, placenta, & testis
Pathology:
- defects in ST3GAL5 are the cause of Amish infantile epilepsy syndrome
General
glycoprotein
membrane protein
sialyltransferase
Properties
SIZE: MW = 42 kD
entity length = 362 aa
COMPARTMENT: golgi
MOTIF: transmembrane domain {6-26}
catalytic domain
SITE: 27-362
MOTIF: N-glycosylation site {N30}
cysteine residue {C139}
MODIFICATION: cysteine residue {C297}
N-glycosylation site {N180}
cysteine residue {C297}
MODIFICATION: cysteine residue {C139}
N-glycosylation site {N334}
Database Correlations
OMIM 604402
MORBIDMAP 604402
UniProt Q9UNP4
Pfam PF00777
Entrez Gene 8869
ENZYME 2.4.99.9
References
- OMIM :accession 604402
- UniProt :accession Q9UNP4
- GGDB; Note: glycogene database
http://ggdb.muse.aist.go.jp/GGDB/index.jsp