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Aliases for ST3GAL3 Gene

Aliases for ST3GAL3 Gene

  • ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3 2 3
  • ST3Gal III 2 3 4
  • SIAT6 3 4 6
  • Sialyltransferase 6 (N-Acetyllacosaminide Alpha 2,3-Sialyltransferase) 2 3
  • Mental Retardation, Non-Syndromic, Autosomal Recessive, 12 2 3
  • Alpha 2,3-ST 3 3 4
  • ST3GalIII 3 4
  • ST3GALII 3 6
  • EIEE15 3 6
  • MRT12 3 6
  • ST3N 3 4
  • CMP-N-Acetylneuraminate-Beta-1,4-Galactoside Alpha-2,3-Sialyltransferase 3
  • Gal Beta-1,3(4) GlcNAc Alpha-2,3 Sialyltransferase 4
  • Gal Beta-1,3(4)GlcNAc Alpha-2,3 Sialyltransferase 3
  • N-Acetyllactosaminide Alpha-2,3-Sialyltransferase 4
  • Beta-Galactoside Alpha-2,3-Sialyltransferase 3 4
  • Alpha 2,3-Sialyltransferase III 3
  • Alpha-2,3-Sialyltransferase II 3
  • Sialyltransferase 6 4
  • EC 2.4.99.6 4

External Ids for ST3GAL3 Gene

Previous HGNC Symbols for ST3GAL3 Gene

  • SIAT6
  • MRT12

Previous GeneCards Identifiers for ST3GAL3 Gene

  • GC01P043844
  • GC01P043946
  • GC01P044173
  • GC01P042293

Summaries for ST3GAL3 Gene

Entrez Gene Summary for ST3GAL3 Gene

  • The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

GeneCards Summary for ST3GAL3 Gene

ST3GAL3 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3) is a Protein Coding gene. Diseases associated with ST3GAL3 include epileptic encephalopathy, early infantile, 15 and west syndrome. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include beta-galactoside (CMP) alpha-2,3-sialyltransferase activity and N-acetyllactosaminide alpha-2,3-sialyltransferase activity. An important paralog of this gene is ST3GAL4.

UniProtKB/Swiss-Prot for ST3GAL3 Gene

  • Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- or NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc (By similarity).

Gene Wiki entry for ST3GAL3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ST3GAL3 Gene

Genomics for ST3GAL3 Gene

Regulatory Elements for ST3GAL3 Gene

Transcription factor binding sites by QIAGEN in the ST3GAL3 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ST3GAL3 Gene

Start:
43,705,824 bp from pter
End:
43,931,165 bp from pter
Size:
225,342 bases
Orientation:
Plus strand

Genomic View for ST3GAL3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ST3GAL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ST3GAL3 Gene

Proteins for ST3GAL3 Gene

neXtProt entry for ST3GAL3 Gene

Proteomics data for ST3GAL3 Gene at MOPED

Post-translational modifications for ST3GAL3 Gene

  • The soluble form derives from the membrane form by proteolytic processing
  • Glycosylation at Asn80 and Asn171
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ST3GAL3 Gene

Domains for ST3GAL3 Gene

Gene Families for ST3GAL3 Gene

HGNC:
  • ST3G :Sialyltransferases

Protein Domains for ST3GAL3 Gene

Graphical View of Domain Structure for InterPro Entry

Q11203

UniProtKB/Swiss-Prot:

SIAT6_HUMAN :
  • Q11203
Family:
  • Belongs to the glycosyltransferase 29 family.
genes like me logo Genes that share domains with ST3GAL3: view

Function for ST3GAL3 Gene

Molecular function for ST3GAL3 Gene

UniProtKB/Swiss-Prot CatalyticActivity: CMP-N-acetylneuraminate + beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-glycoprotein = CMP + alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-glycoprotein
UniProtKB/Swiss-Prot Function: Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- or NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc (By similarity).

Enzyme Numbers (IUBMB) for ST3GAL3 Gene

Gene Ontology (GO) - Molecular Function for ST3GAL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003836 beta-galactoside (CMP) alpha-2,3-sialyltransferase activity IEA --
GO:0008118 N-acetyllactosaminide alpha-2,3-sialyltransferase activity IEA --
GO:0008373 sialyltransferase activity --
genes like me logo Genes that share ontologies with ST3GAL3: view

Phenotypes for ST3GAL3 Gene

MGI mutant phenotypes for ST3GAL3:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with ST3GAL3: view

Animal Models for ST3GAL3 Gene

MGI Knock Outs for ST3GAL3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ST3GAL3

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for ST3GAL3 Gene

Localization for ST3GAL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ST3GAL3 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted. Note=Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ST3GAL3 Gene COMPARTMENTS Subcellular localization image for ST3GAL3 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
lysosome 1

Gene Ontology (GO) - Cellular Components for ST3GAL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0030173 integral component of Golgi membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with ST3GAL3: view

Pathways for ST3GAL3 Gene

genes like me logo Genes that share pathways with ST3GAL3: view

UniProtKB/Swiss-Prot Q11203-SIAT6_HUMAN

  • Pathway: Protein modification; protein glycosylation

Interacting Proteins for ST3GAL3 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000262915%0d%0a9606.ENSP00000302716%0d%0a9606.ENSP00000396774%0d%0a9606.ENSP00000381008%0d%0a9606.ENSP00000328983%0d%0a9606.ENSP00000375748%0d%0a
Selected Interacting proteins: Q11203-SIAT6_HUMAN ENSP00000262915 for ST3GAL3 Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for ST3GAL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006486 protein glycosylation --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006493 protein O-linked glycosylation TAS --
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with ST3GAL3: view

Compounds for ST3GAL3 Gene

(2) HMDB Compounds for ST3GAL3 Gene

Compound Synonyms Cas Number PubMed IDs
Cytidine monophosphate
  • 5'-CMP
63-37-6
Cytidine monophosphate N-acetylneuraminic acid
  • CMP-N-acetylneuraminate
22-12-8

(3) Novoseek inferred chemical compound relationships for ST3GAL3 Gene

Compound -log(P) Hits PubMed IDs
sialic acid 71.9 2
galactose 36.8 1
polysaccharide 31.5 3
genes like me logo Genes that share compounds with ST3GAL3: view

Transcripts for ST3GAL3 Gene

Unigene Clusters for ST3GAL3 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ST3GAL3

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ST3GAL3 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - - - - -
SP11: - - - - - - - - - - - -
SP12: - - - - - - - - - -
SP13: - - - - - - - - -
SP14: - - - - - - - - -
SP15: - - - - - - - - -
SP16: - - - - - - - - - - -
SP17: - - - - - - - - - - - - - -
SP18: - - - - - - - - -
SP19: - - - -
SP20: - - - - - - - - - - - - -
SP21: - - - - -
SP22:
SP23: - - - - -
SP24:
SP25: - - -
SP26:
SP27:

ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b · 23c
SP1: - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - - - -
SP7: - - - - -
SP8: - - - - -
SP9: - - - - - - - -
SP10: - - - - -
SP11: - - - - -
SP12: - - - - - - - -
SP13:
SP14: - - - - - - - - -
SP15:
SP16: - - - - - - - -
SP17: - - - -
SP18: -
SP19:
SP20: - - - - - - - -
SP21:
SP22: - -
SP23:
SP24: - -
SP25:
SP26:
SP27:

Relevant External Links for ST3GAL3 Gene

GeneLoc Exon Structure for
ST3GAL3
ECgene alternative splicing isoforms for
ST3GAL3

Expression for ST3GAL3 Gene

mRNA expression in normal human tissues for ST3GAL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ST3GAL3 Gene

This gene is overexpressed in Muscle - Skeletal (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ST3GAL3 Gene

SOURCE GeneReport for Unigene cluster for ST3GAL3 Gene Hs.597915

mRNA Expression by UniProt/SwissProt for ST3GAL3 Gene

Q11203-SIAT6_HUMAN
Tissue specificity: Highly expressed in adult skeletal muscle and in all fetal tissues examined and to a much lesser extent in placenta, lung and liver
genes like me logo Genes that share expressions with ST3GAL3: view

In Situ Assay Products

Orthologs for ST3GAL3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ST3GAL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ST3GAL3 35
  • 99.64 (n)
  • 99.47 (a)
ST3GAL3 36
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SIAT6 36
  • 99 (a)
OneToOne
ST3GAL3 35
  • 92.51 (n)
  • 96.79 (a)
dog
(Canis familiaris)
Mammalia ST3GAL3 35
  • 90.01 (n)
  • 92.88 (a)
ST3GAL3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia St3gal3 35
  • 91.8 (n)
  • 96.52 (a)
St3gal3 16
St3gal3 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ST3GAL3 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia St3gal3 35
  • 90.91 (n)
  • 96.52 (a)
chicken
(Gallus gallus)
Aves ST3GAL3 35
  • 77.52 (n)
  • 87.95 (a)
ST3GAL3 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ST3GAL3 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia st3Gal-III 35
tropical clawed frog
(Silurana tropicalis)
Amphibia st3gal3 35
  • 70.85 (n)
  • 82.05 (a)
Str.781 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9175 35
zebrafish
(Danio rerio)
Actinopterygii st3gal3a 36
  • 63 (a)
OneToMany
st3gal3b 35
  • 66.57 (n)
  • 70.71 (a)
st3gal3b 36
  • 63 (a)
OneToMany
zgc63978 35
Species with no ortholog for ST3GAL3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ST3GAL3 Gene

ENSEMBL:
Gene Tree for ST3GAL3 (if available)
TreeFam:
Gene Tree for ST3GAL3 (if available)

Paralogs for ST3GAL3 Gene

Paralogs for ST3GAL3 Gene

Selected SIMAP similar genes for ST3GAL3 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ST3GAL3: view

Variants for ST3GAL3 Gene

Sequence variations from dbSNP and Humsavar for ST3GAL3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs6801 -- 43,930,974(+) CTGAT(C/G)CATAG utr-variant-3-prime, nc-transcript-variant
rs37452 -- 43,831,901(-) AGGCA(G/T)ATGGG intron-variant
rs37453 -- 43,829,375(-) GAGAG(C/T)GGAGG intron-variant
rs37454 -- 43,828,739(-) ttttg(G/T)ttttt intron-variant
rs37455 -- 43,828,556(-) ggttg(C/T)tttct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ST3GAL3 Gene

Variant ID Type Subtype PubMed ID
esv271803 CNV Insertion 20981092
esv272953 CNV Insertion 20981092
nsv721 CNV Insertion 18451855
esv29502 CNV Gain 19812545
esv268603 CNV Insertion 20981092
dgv30e201 CNV Deletion 23290073
esv1002363 CNV Gain 20482838
esv2747630 CNV Deletion 23290073
esv2674865 CNV Deletion 23128226
esv2678921 CNV Deletion 23128226
esv2747641 CNV Deletion 23290073
esv2670602 CNV Deletion 23128226
esv1721659 CNV Deletion 17803354
esv2747652 CNV Deletion 23290073
esv1735166 CNV Deletion 17803354
esv2747663 CNV Deletion 23290073
esv2747674 CNV Deletion 23290073
nsv870942 CNV Loss 21882294

Relevant External Links for ST3GAL3 Gene

HapMap Linkage Disequilibrium report
ST3GAL3
Human Gene Mutation Database (HGMD)
ST3GAL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ST3GAL3 Gene

Disorders for ST3GAL3 Gene

(2) OMIM Diseases for ST3GAL3 Gene (606494)

UniProtKB/Swiss-Prot

SIAT6_HUMAN
  • Mental retardation, autosomal recessive 12 (MRT12) [MIM:611090]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21907012}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epileptic encephalopathy, early infantile, 15 (EIEE15) [MIM:615006]: A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome. {ECO:0000269 PubMed:23252400}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) Novoseek inferred disease relationships for ST3GAL3 Gene

Disease -log(P) Hits PubMed IDs
gastric cancer 11.2 2
carcinoma 0.853 2
tumors 0 2
cancer 0 1

Relevant External Links for ST3GAL3

Genetic Association Database (GAD)
ST3GAL3
Human Genome Epidemiology (HuGE) Navigator
ST3GAL3
genes like me logo Genes that share disorders with ST3GAL3: view

Publications for ST3GAL3 Gene

  1. Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha 2,3- sialyltransferase. (PMID: 8333853) Kitagawa H. … Paulson J.C. (Biochem. Biophys. Res. Commun. 1993) 2 3 4
  2. ST3GAL3 mutations impair the development of higher cognitive functions. (PMID: 21907012) Hu H. … Kuss A.W. (Am. J. Hum. Genet. 2011) 2 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  4. A genome-wide association study of aging. (PMID: 21782286) Walter S. … Franceschini N. (Neurobiol. Aging 2011) 3 48
  5. West syndrome caused by ST3Gal-III deficiency. (PMID: 23252400) Edvardson S. … Elpeleg O. (Epilepsia 2013) 3 4

Products for ST3GAL3 Gene

Sources for ST3GAL3 Gene

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