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 associat... See more...

Aliases for ST3GAL3 Gene

Aliases for ST3GAL3 Gene

  • ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3 2 3 5
  • ST3Gal III 2 3 4
  • CMP-N-Acetylneuraminate-Beta-1,4-Galactoside Alpha-2,3-Sialyltransferase 3 4
  • Sialyltransferase 6 (N-Acetyllactosaminide Alpha 2,3-Sialyltransferase) 2 3
  • N-Acetyllactosaminide Alpha-2,3-Sialyltransferase 2 4
  • Alpha 2,3-ST 3 3 4
  • ST3GalIII 3 4
  • SIAT6 3 4
  • ST3N 3 4
  • Sialyltransferase 6 (N-Acetyllacosaminide Alpha 2,3-Sialyltransferase) 3
  • Mental Retardation, Non-Syndromic, Autosomal Recessive, 12 2
  • Gal Beta-1,3(4) GlcNAc Alpha-2,3 Sialyltransferase 4
  • Gal Beta-1,3(4)GlcNAc Alpha-2,3 Sialyltransferase 3
  • 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
  • ST3GALII 3
  • ST3GAL3 5
  • EIEE15 3
  • MRT12 3

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 a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

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 Keratan sulfate/keratin metabolism. Gene Ontology (GO) annotations related to this gene include sialyltransferase activity and N-acetyllactosaminide alpha-2,3-sialyltransferase activity. An important paralog of this gene is ST3GAL5.

UniProtKB/Swiss-Prot Summary 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- and 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.

Gene Wiki entry for ST3GAL3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ST3GAL3 Gene

Genomics for ST3GAL3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ST3GAL3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J043705 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.8 1771 3.8 ARHGAP35 SP1 GATAD2A HNRNPL PRDM10 ZNF629 TFE3 KDM1A ZNF692 POLR2A KDM4A-AS1 ST3GAL3 DMAP1 SZT2 HYI ARTN ZNF691 P3H1 KDM4A SZT2-AS1
GH01J043912 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 604.7 +208.0 207997 4 TEAD4 PRDM10 PRDM1 ZIC2 ZNF600 NFE2 CEBPB ZNF316 ZBTB17 ZNF335 ST3GAL3 ARTN ST3GAL3-AS1 SZT2 CCDC24 B4GALT2 ENSG00000225721 SLC6A9 HSALNG0003123 piR-48759-011
GH01J043928 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 604.5 +224.0 223977 3.2 GATAD2A CTCF ZBTB33 PRDM10 ZNF629 ZNF692 JUND ZNF143 ZIC2 PKNOX1 ST3GAL3 ATP6V0B ARTN CCDC24 piR-48759-011 ENSG00000284989
GH01J043875 Promoter 0.5 EPDnew 600.1 +169.7 169749 0.1 ZIC2 ZSCAN5C ST3GAL3 RF00017-186 SHMT1P1 ARTN ENSG00000284989
GH01J043838 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.1 +132.3 132321 0.1 MIR6079 ST3GAL3 ARTN piR-31534-028 ENSG00000284989
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ST3GAL3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ST3GAL3

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

Genomic Locations for ST3GAL3 Gene

Genomic Locations for ST3GAL3 Gene
chr1:43,705,824-43,931,165
(GRCh38/hg38)
Size:
225,342 bases
Orientation:
Plus strand
chr1:44,171,495-44,396,831
(GRCh37/hg19)
Size:
225,337 bases
Orientation:
Plus strand

Genomic View for ST3GAL3 Gene

Genes around ST3GAL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ST3GAL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ST3GAL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ST3GAL3 Gene

Proteins for ST3GAL3 Gene

  • Protein details for ST3GAL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q11203-SIAT6_HUMAN
    Recommended name:
    CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase
    Protein Accession:
    Q11203
    Secondary Accessions:
    • A9Z1W2
    • D3DPX8
    • Q5T4W9
    • Q5T4X0
    • Q5T4X7
    • Q5T4X8
    • Q5T4X9
    • Q5T4Y0
    • Q5T4Y2
    • Q5T4Y3
    • Q5T4Y4
    • Q86UR6
    • Q86UR7
    • Q86UR8
    • Q86UR9
    • Q86US0
    • Q86US1
    • Q86US2
    • Q8IX41
    • Q8IX42
    • Q8IX43
    • Q8IX44
    • Q8IX45
    • Q8IX46
    • Q8IX47
    • Q8IX48
    • Q8IX49
    • Q8IX50
    • Q8IX51
    • Q8IX52
    • Q8IX53
    • Q8IX54
    • Q8IX55
    • Q8IX56
    • Q8IX57
    • Q8IX58

    Protein attributes for ST3GAL3 Gene

    Size:
    375 amino acids
    Molecular mass:
    42171 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform B1+32]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform B4+173]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform B5+173]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform B10]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform C9]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform E1]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform E3+32]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

neXtProt entry for ST3GAL3 Gene

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

Other Protein References for ST3GAL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ST3GAL3 Gene

Domains & Families for ST3GAL3 Gene

Gene Families for ST3GAL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ST3GAL3 Gene

InterPro:
Blocks:
  • Glycosyl transferase, family 29
ProtoNet:

Suggested Antigen Peptide Sequences for ST3GAL3 Gene

GenScript: Design optimal peptide antigens:
  • ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (Q5T4W8_HUMAN)
  • ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (Q5T4Y1_HUMAN)
  • Gal beta 1,3(4) GlcNAc alpha 2,3-sialyltransferase (Q96L53_HUMAN)
  • Sialyltransferase 6 (SIAT6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q11203

UniProtKB/Swiss-Prot:

SIAT6_HUMAN :
  • Belongs to the glycosyltransferase 29 family.
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 Function:
Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + CMP-N-acetyl-beta-neuraminate = an N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + CMP + H(+); Xref=Rhea:RHEA:52316, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:133507, ChEBI:CHEBI:136545; EC=2.4.99.6; Evidence={ECO:0000250|UniProtKB:P97325};.

Enzyme Numbers (IUBMB) for ST3GAL3 Gene

Phenotypes From GWAS Catalog 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 TAS,IEA --
GO:0008373 sialyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ST3GAL3: view
genes like me logo Genes that share phenotypes with ST3GAL3: view

Human Phenotype Ontology for ST3GAL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ST3GAL3 Gene

MGI Knock Outs for ST3GAL3:

Animal Model Products

  • Taconic Biosciences Mouse Models for ST3GAL3

CRISPR Products

miRNA for ST3GAL3 Gene

miRTarBase miRNAs that target ST3GAL3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST3GAL3

Clone Products

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ST3GAL3 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 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:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ST3GAL3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ST3GAL3 Gene

Pathways & Interactions 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 top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000262915 Q11203-SIAT6_HUMAN for ST3GAL3 Gene via STRING IID

SIGNOR curated interactions for ST3GAL3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ST3GAL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IBA 21873635
GO:0016266 O-glycan processing TAS --
GO:0018146 keratan sulfate biosynthetic process TAS --
GO:0097503 sialylation IEA --
genes like me logo Genes that share ontologies with ST3GAL3: view

Drugs & Compounds for ST3GAL3 Gene

(2) Drugs for ST3GAL3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine monophosphate Experimental Pharma 0

(3) Additional Compounds for ST3GAL3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytidine monophosphate N-acetylneuraminic acid
  • CMP-beta-Neu5ac
  • CMP-N-Acetylneuraminate
  • CMP-Sialic acid
  • CYTIDINE-5'-monophosphATE-5-N-acetylneuraminIC ACID
  • CMP-b-Neu5ac
22-12-8
genes like me logo Genes that share compounds with ST3GAL3: view

Transcripts for ST3GAL3 Gene

mRNA/cDNA for ST3GAL3 Gene

23 REFSEQ mRNAs :
38 NCBI additional mRNA sequence :
85 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST3GAL3

Clone 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

Expression for ST3GAL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x4.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ST3GAL3 Gene



Protein tissue co-expression partners for ST3GAL3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ST3GAL3

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.

Evidence on tissue expression from TISSUES for ST3GAL3 Gene

  • Nervous system(4.7)
  • Eye(2.9)
  • Heart(2.6)
  • Intestine(2.5)
  • Lung(2.5)
  • Liver(2.5)
  • Muscle(2.4)
  • Lymph node(2.3)
  • Spleen(2.2)
  • Pancreas(2.1)
  • Kidney(2.1)
  • Skin(2.1)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ST3GAL3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ST3GAL3: view

No data available for Protein differential expression in normal tissues for ST3GAL3 Gene

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 30 31
  • 99.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SIAT6 31
  • 99 (a)
OneToOne
ST3GAL3 30
  • 92.51 (n)
Mouse
(Mus musculus)
Mammalia St3gal3 30 17 31
  • 91.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia St3gal3 30
  • 90.91 (n)
Dog
(Canis familiaris)
Mammalia ST3GAL3 30 31
  • 90.01 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ST3GAL3 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ST3GAL3 30 31
  • 77.52 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ST3GAL3 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia st3gal3 30
  • 70.85 (n)
Str.781 30
African clawed frog
(Xenopus laevis)
Amphibia st3Gal-III 30
Zebrafish
(Danio rerio)
Actinopterygii st3gal3b 30 31
  • 66.57 (n)
OneToMany
st3gal3a 31
  • 63 (a)
OneToMany
zgc63978 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9175 30
Species where no ortholog for ST3GAL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ST3GAL3: view image

Paralogs for ST3GAL3 Gene

(5) SIMAP similar genes for ST3GAL3 Gene using alignment to 6 proteins:

  • SIAT6_HUMAN
  • E9PJI3_HUMAN
  • E9PJX2_HUMAN
  • E9PNN5_HUMAN
  • H0YEP7_HUMAN
  • L8E8A4_HUMAN
genes like me logo Genes that share paralogs with ST3GAL3: view

Variants for ST3GAL3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ST3GAL3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
647079 Uncertain Significance: Early infantile epileptic encephalopathy 43,898,277(+) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
651340 Uncertain Significance: Early infantile epileptic encephalopathy 43,792,128(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
652316 Uncertain Significance: Early infantile epileptic encephalopathy 43,899,629(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
652603 Uncertain Significance: Early infantile epileptic encephalopathy 43,899,620(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
660476 Uncertain Significance: Early infantile epileptic encephalopathy 43,920,848(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ST3GAL3 Gene

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

Variant ID Type Subtype PubMed ID
dgv20e201 CNV deletion 23290073
dgv254n54 CNV gain+loss 21841781
dgv255n54 CNV gain+loss 21841781
esv1002363 CNV gain 20482838
esv1721659 CNV deletion 17803354
esv1735166 CNV deletion 17803354
esv2670602 CNV deletion 23128226
esv2674865 CNV deletion 23128226
esv2678921 CNV deletion 23128226
esv2747630 CNV deletion 23290073
esv2747641 CNV deletion 23290073
esv2747652 CNV deletion 23290073
esv2747663 CNV deletion 23290073
esv2747674 CNV deletion 23290073
esv29502 CNV gain 19812545
esv3304324 CNV mobile element insertion 20981092
esv3444496 CNV insertion 20981092
nsv1077623 CNV insertion 25765185
nsv1112531 CNV deletion 24896259
nsv1118117 CNV deletion 24896259
nsv1121763 CNV deletion 24896259
nsv1125461 CNV tandem duplication 24896259
nsv546129 CNV gain 21841781
nsv546130 CNV loss 21841781
nsv546132 CNV gain 21841781
nsv546133 CNV gain 21841781
nsv546134 CNV gain 21841781
nsv546136 CNV gain+loss 21841781
nsv546139 CNV loss 21841781
nsv546140 CNV loss 21841781
nsv721 CNV insertion 18451855
nsv945910 CNV duplication 23825009
nsv950703 CNV deletion 24416366

Variation tolerance for ST3GAL3 Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ST3GAL3 Gene

Human Gene Mutation Database (HGMD)
ST3GAL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ST3GAL3

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

Disorders for ST3GAL3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ST3GAL3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 15
  • eiee15
west syndrome
  • epileptic encephalopathy, early infantile, 1
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
lennox-gastaut syndrome
  • lgs
gastrointestinal carcinoma
  • gastrointestinal neoplasms
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for ST3GAL3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ST3GAL3: view

No data available for Genatlas for ST3GAL3 Gene

Publications for ST3GAL3 Gene

  1. ST3GAL3 mutations impair the development of higher cognitive functions. (PMID: 21907012) Hu H … Kuss AW (American journal of human genetics 2011) 2 3 4
  2. Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha 2,3-sialyltransferase. (PMID: 8333853) Kitagawa H … Paulson JC (Biochemical and biophysical research communications 1993) 2 3 4
  3. West syndrome caused by ST3Gal-III deficiency. (PMID: 23252400) Edvardson S … Elpeleg O (Epilepsia 2013) 3 4
  4. A genome-wide association study of aging. (PMID: 21782286) Walter S … Franceschini N (Neurobiology of aging 2011) 3 41
  5. Differential expression of alpha-2,3-sialyltransferases and alpha-1,3/4-fucosyltransferases regulates the levels of sialyl Lewis a and sialyl Lewis x in gastrointestinal carcinoma cells. (PMID: 19781661) Carvalho AS … Reis CA (The international journal of biochemistry & cell biology 2010) 3 23

Products for ST3GAL3 Gene

  • Signalway Proteins for ST3GAL3

Sources for ST3GAL3 Gene