ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5)

2010-03-01  

Identity

HGNC
ST3GAL5
LOCATION
2p11.2
LOCUSID
8869
ALIAS
SATI,SIAT9,SIATGM3S,SPDRS,ST3Gal
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8869
MIM: 604402
HGNC: 10872
Ensembl: ENSG00000115525

Variants:

dbSNP: 8869
ClinVar: 8869
TCGA: ENSG00000115525
COSMIC: ST3GAL5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115525ENST00000306262E7EPY0
ENSG00000115525ENST00000377332A0A1X7SBT2
ENSG00000115525ENST00000393805Q9UNP4
ENSG00000115525ENST00000393805A0A0S2Z4S6
ENSG00000115525ENST00000393808Q9UNP4
ENSG00000115525ENST00000433665F8WEA8
ENSG00000115525ENST00000455892C9JYS9
ENSG00000115525ENST00000473122A0A1W2PPT1
ENSG00000115525ENST00000638178A0A0S2Z4Q7
ENSG00000115525ENST00000638227F8WEA8
ENSG00000115525ENST00000638258A0A1W2PPF6
ENSG00000115525ENST00000638288A0A1W2PR43
ENSG00000115525ENST00000638321A0A1W2PNV2
ENSG00000115525ENST00000638484F8WEA8
ENSG00000115525ENST00000638523A0A1W2PPQ6
ENSG00000115525ENST00000638542A0A1W2PR69
ENSG00000115525ENST00000638572Q9UNP4
ENSG00000115525ENST00000638659A0A1W2PP82
ENSG00000115525ENST00000638678A0A1W2PRY1
ENSG00000115525ENST00000638855A0A1W2PR69
ENSG00000115525ENST00000638885A0A1W2PRT0
ENSG00000115525ENST00000638956A0A1W2PQH5
ENSG00000115525ENST00000638986Q9UNP4
ENSG00000115525ENST00000638986A0A0S2Z4S6
ENSG00000115525ENST00000639119A0A1W2PR45
ENSG00000115525ENST00000639184A0A1W2PR43
ENSG00000115525ENST00000639202A0A1W2PRP8
ENSG00000115525ENST00000639305A0A1W2PRC6
ENSG00000115525ENST00000639311A0A1W2PP90
ENSG00000115525ENST00000639421F8WEA8
ENSG00000115525ENST00000639432Q9UNP4
ENSG00000115525ENST00000639432A0A0S2Z4S6
ENSG00000115525ENST00000639519A0A1W2PQ08
ENSG00000115525ENST00000639541A0A1W2PR24
ENSG00000115525ENST00000639608A0A1W2PRT0
ENSG00000115525ENST00000639690A0A1W2PQ40
ENSG00000115525ENST00000639820F8WEA8
ENSG00000115525ENST00000639945A0A1W2PR24
ENSG00000115525ENST00000639981A0A1W2PNZ0
ENSG00000115525ENST00000640024A0A1W2PP52
ENSG00000115525ENST00000640222A0A1W2PQM6
ENSG00000115525ENST00000640295F8WEA8
ENSG00000115525ENST00000640314A0A1W2PPG4
ENSG00000115525ENST00000640315A0A1W2PQQ6
ENSG00000115525ENST00000640322Q9UNP4
ENSG00000115525ENST00000640322A0A0S2Z4S6
ENSG00000115525ENST00000640378A0A1W2PQB4
ENSG00000115525ENST00000640418A0A1W2PQR0
ENSG00000115525ENST00000640425A0A1W2PRD9
ENSG00000115525ENST00000640572A0A1W2PQT6
ENSG00000115525ENST00000640594F8WEA8
ENSG00000115525ENST00000640763A0A1W2PQ22
ENSG00000115525ENST00000640835A0A1W2PNR4
ENSG00000115525ENST00000640849A0A1W2PQ01
ENSG00000115525ENST00000640903A0A1W2PPB0
ENSG00000115525ENST00000640982Q9UNP4
ENSG00000115525ENST00000640982A0A0S2Z4S6
ENSG00000115525ENST00000640992Q9UNP4
ENSG00000115525ENST00000640992A0A0S2Z4S6

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycosphingolipid biosynthesis - ganglio seriesKEGGko00604
Glycosphingolipid biosynthesis - ganglio seriesKEGGhsa00604
Metabolic pathwaysKEGGhsa01100
Glycosphingolipid biosynthesis, ganglio series, LacCer => GT3KEGGhsa_M00069
Glycosphingolipid biosynthesis, ganglio series, LacCer => GT3KEGGM00069
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Sialic acid metabolismREACTOMER-HSA-4085001

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
215716402011Regulation of human EGF receptor by lipids.96
155028252004Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.95
240266812014A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.38
206286242010Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".29
189742002009Ganglioside GM3 inhibits VEGF/VEGFR-2-mediated angiogenesis: direct interaction of GM3 with VEGFR-2.28
229901442013Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.27
245317162015Modification of sialylation is associated with multidrug resistance in human acute myeloid leukemia.20
184801572008Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts.16
197097452010Elevated mRNA level of hST6Gal I and hST3Gal V positively correlates with the high risk of pediatric acute leukemia.14
197593992010GM3 synthase overexpression results in reduced cell motility and in caveolin-1 upregulation in human ovarian carcinoma cells.13

Citation

Dessen P

ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51375/st3gal5