ST3GAL5
entrez
8869
canonical
uniprot
Q9UNP4
canonical
ensembl
ENSG00000115525
resolver
ensp
ENSP00000377394
resolver
ensp
ENSP00000377397
resolver
ensp
ENSP00000491316
resolver
ensp
ENSP00000491853
resolver
ensp
ENSP00000492045
resolver
ensp
ENSP00000492299
resolver
ensp
ENSP00000701636
resolver
enst
ENST00000639119
resolver
genesymbol
ST3GAL5
resolver
genesymbol_syn
SIAT9
resolver
hgnc
HGNC:10872
resolver
uniprot
A0A0S2Z4S6
resolver
uniprot
A0A1W2PR45
resolver
uniprot
B3KM82
resolver
uniprot
D6W5L9
resolver
uniprot
O94902
resolver
uniprot
Q53QU1
resolver
uniprot
Q6NZX4
resolver
uniprot
Q6YFL1
resolver
uniprot_entry
A0A0S2Z4S6_HUMAN
resolver
uniprot_entry
A0A1W2PR45_HUMAN
resolver
uniprot_entry
SIAT9_HUMAN
resolver
uniprot_sec
B3KM82
resolver
uniprot_sec
D6W5L9
resolver
uniprot_sec
O94902
resolver
uniprot_sec
Q53QU1
resolver
uniprot_sec
Q6NZX4
resolver
uniprot_sec
Q6YFL1
resolver
amino_acid_sequence
MRTKAAGCAERRPLQPRTEAAAAPAGRAMPSEYTYVKLRSDCSRPSLQWYTRAQSKMRRPSLLLKDILKCTLLVFGVWILYILKLNYTTEECDMKKMHYVDPDHVKRAQKYAQQVLQKECRPKFAKTSMALLFEHRYSVDLLPFVQKAPKDSEAESKYDPPFGFRKFSSKVQTLLELLPEHDLPEHLKAKTCRRCVVIGSGGILHGLELGHTLNQFDVVIRLNSAPVEGYSEHVGNKTTIRMTYPEGAPLSDLEYYSNDLFVAVLFKSVDFNWLQAMVKKETLPFWVRLFFWKQVAEKIPLQPKHFRILNPVIIKETAFDILQYSEPQSRFWGRDKNVPTIGVIAVVLATHLCDEVSLAGFGYDLNQPRTPLHYFDSQCMAAMNFQTMHNVTTETKFLLKLVKEGVVKDLSGGIDREF
uniprot
proteins
disease_involvement
DISEASE: Salt and pepper developmental regression syndrome (SPDRS) [MIM:609056]: A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities. {ECO:0000269|PubMed:15502825}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.3.9
uniprot
proteins
function
FUNCTION: Transfers the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the non-reducing terminal galactose (Gal) of glycosphingolipids forming gangliosides (important molecules involved in the regulation of multiple cellular processes, including cell proliferation and differentiation, apoptosis, embryogenesis, development, and oncogenesis) (PubMed:16934889, PubMed:9822625). Mainly involved in the biosynthesis of ganglioside GM3 but can also use different glycolipids as substrate acceptors such as D-galactosylceramide (GalCer), asialo-GM2 (GA2) and asialo-GM1 (GA1), although less preferentially than beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer (LacCer) (PubMed:16934889). {ECO:0000269|PubMed:16934889, ECO:0000269|PubMed:9822625}.
uniprot
proteins
mass_dalton
47990
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis. {ECO:0000305|PubMed:16934889, ECO:0000305|PubMed:9822625}.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:16934889}.
uniprot
proteins
protein_family
Glycosyltransferase 29 family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15502825
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16934889
uniprot
proteins
pubmed
9822625
uniprot
proteins
sequence_length
418
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 62..82; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins