ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM, Mar 2008] See more...

Aliases for ST8SIA3 Gene

Aliases for ST8SIA3 Gene

  • ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 3 2 3 4 5
  • SIAT8C 2 3 4
  • Sia-Alpha-2,3-Gal-Beta-1,4-GlcNAc-R:Alpha 2,8-Sialyltransferase 3 4
  • Alpha-2,8-Sialyltransferase III 3 4
  • Alpha-2,8-Sialyltransferase 8C 3 4
  • Sialyltransferase St8Sia III 3 4
  • ST8SiaIII 3 4
  • SIAT8-C 3 4
  • Sialyltransferase 8C (Alpha2,3Galbeta1,4GlcNAcalpha 2,8-Sialyltransferase) 3
  • ST8 Alpha-N-Acetylneuraminate Alpha-2,8-Sialyltransferase 3 3
  • Sialytransferase St8Sia III 3
  • Sialyltransferase 8C 4
  • EC 2.4.99.- 4
  • ST8Sia III 2
  • ST8SIA3 5

External Ids for ST8SIA3 Gene

Previous HGNC Symbols for ST8SIA3 Gene

  • SIAT8C

Previous GeneCards Identifiers for ST8SIA3 Gene

  • GC18P053170
  • GC18P055019
  • GC18P051730

Summaries for ST8SIA3 Gene

Entrez Gene Summary for ST8SIA3 Gene

  • ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ST8SIA3 Gene

ST8SIA3 (ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 3) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include sialyltransferase activity and alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity. An important paralog of this gene is ST8SIA2.

UniProtKB/Swiss-Prot Summary for ST8SIA3 Gene

  • Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto the terminal sialic acid of an acceptor through alpha-2,8-linkages. Is active with alpha-2,3-linked, alpha-2,6-linked and alpha-2,8-linked sialic acid of N-linked oligosaccharides of glycoproteins and glycolipids. Displays preference for substrates with alpha-2,3-linked terminal sialic acid. It can form polysialic acid in vitro directly on alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid.

Additional gene information for ST8SIA3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ST8SIA3 Gene

Genomics for ST8SIA3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ST8SIA3 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
GH18J057353 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.7 744 2.6 TEAD4 REST TFE3 NFKBIZ KDM1A PRDM1 ZIC2 POLR2A ZNF501 EZH2 ST8SIA3 lnc-ONECUT2-1 LINC02565 ONECUT2
GH18J057426 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.5 +84.2 84198 20.2 RNF2 HNRNPL GATAD2A CTCF TEAD4 PRDM10 REST SOX13 KDM1A ZNF692 ONECUT2 ST8SIA3 LOC112267870 LINC02565 ENSG00000277837 FECH
GH18J057447 Enhancer 1 Ensembl ENCODE dbSUPER 10.8 +94.9 94944 1 CTCF REST ZNF143 ZIC2 EZH2 RAD21 UBTF ZNF766 HDAC2 ZNF316 ST8SIA3 LOC112267870 ONECUT2 lnc-ONECUT2-2 FECH
GH18J056889 Enhancer 1.1 FANTOM5 Ensembl ENCODE 10 -461.8 -461756 4 ATF7 FOXA1 PRDM1 ETS1 SP1 JUND CEBPB FOXA2 JUN FOS ST8SIA3 WDR7 ENSG00000267146 MF281430-035 TXNL1 BOD1L2
GH18J057050 Enhancer 1 Ensembl ENCODE 10 -301.2 -301208 2.3 CTCF IKZF1 RELA PKNOX1 REST RAD21 TCF12 IKZF2 SP1 HDAC1 LOC105372136 ST8SIA3 WDR7 LC027889 BOD1L2 TXNL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ST8SIA3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ST8SIA3

Top Transcription factor binding sites by QIAGEN in the ST8SIA3 gene promoter:
  • aMEF-2
  • AP-1
  • AREB6
  • FOXJ2
  • HOXA9
  • HOXA9B
  • MEF-2A
  • Meis-1
  • Meis-1a
  • p53

Genomic Locations for ST8SIA3 Gene

Genomic Locations for ST8SIA3 Gene
chr18:57,352,557-57,371,731
(GRCh38/hg38)
Size:
19,175 bases
Orientation:
Plus strand
chr18:55,018,044-55,038,962
(GRCh37/hg19)
Size:
20,919 bases
Orientation:
Plus strand

Genomic View for ST8SIA3 Gene

Genes around ST8SIA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ST8SIA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ST8SIA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ST8SIA3 Gene

Proteins for ST8SIA3 Gene

  • Protein details for ST8SIA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43173-SIA8C_HUMAN
    Recommended name:
    Sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase
    Protein Accession:
    O43173
    Secondary Accessions:
    • A8K0F2
    • Q6B085
    • Q9NS41

    Protein attributes for ST8SIA3 Gene

    Size:
    380 amino acids
    Molecular mass:
    43970 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ST8SIA3 Gene

neXtProt entry for ST8SIA3 Gene

Post-translational modifications for ST8SIA3 Gene

  • Glycosylation at Asn93, Asn113, Asn160, and Asn206
  • Modification sites at PhosphoSitePlus

Other Protein References for ST8SIA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ST8SIA3 Gene

Domains & Families for ST8SIA3 Gene

Gene Families for ST8SIA3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ST8SIA3 Gene

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

Suggested Antigen Peptide Sequences for ST8SIA3 Gene

GenScript: Design optimal peptide antigens:
  • Sialytransferase St8Sia III (SIA8C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43173

UniProtKB/Swiss-Prot:

SIA8C_HUMAN :
  • Belongs to the glycosyltransferase 29 family.
Family:
  • Belongs to the glycosyltransferase 29 family.
genes like me logo Genes that share domains with ST8SIA3: view

Function for ST8SIA3 Gene

Molecular function for ST8SIA3 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto the terminal sialic acid of an acceptor through alpha-2,8-linkages. Is active with alpha-2,3-linked, alpha-2,6-linked and alpha-2,8-linked sialic acid of N-linked oligosaccharides of glycoproteins and glycolipids. Displays preference for substrates with alpha-2,3-linked terminal sialic acid. It can form polysialic acid in vitro directly on alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid.

Enzyme Numbers (IUBMB) for ST8SIA3 Gene

Phenotypes From GWAS Catalog for ST8SIA3 Gene

Gene Ontology (GO) - Molecular Function for ST8SIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity IDA 9826427
GO:0008373 sialyltransferase activity IEA,IDA 26192331
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0033691 sialic acid binding IC 9826427
genes like me logo Genes that share ontologies with ST8SIA3: view
genes like me logo Genes that share phenotypes with ST8SIA3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST8SIA3

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ST8SIA3 Gene

Localization for ST8SIA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ST8SIA3 Gene

Golgi apparatus membrane. Single-pass type II membrane protein.

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 ST8SIA3 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 2
extracellular 2
endoplasmic reticulum 2
lysosome 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ST8SIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
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 ST8SIA3: view

Pathways & Interactions for ST8SIA3 Gene

genes like me logo Genes that share pathways with ST8SIA3: view

UniProtKB/Swiss-Prot O43173-SIA8C_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for ST8SIA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001574 ganglioside biosynthetic process IDA 10766765
GO:0006486 protein glycosylation IEA --
GO:0006491 N-glycan processing IDA 10766765
GO:0006688 glycosphingolipid biosynthetic process TAS 9073076
GO:0009100 glycoprotein metabolic process IDA 9826427
genes like me logo Genes that share ontologies with ST8SIA3: view

No data available for SIGNOR curated interactions for ST8SIA3 Gene

Drugs & Compounds for ST8SIA3 Gene

No Compound Related Data Available

Transcripts for ST8SIA3 Gene

mRNA/cDNA for ST8SIA3 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 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 ST8SIA3

Alternative Splicing Database (ASD) splice patterns (SP) for ST8SIA3 Gene

No ASD Table

Relevant External Links for ST8SIA3 Gene

GeneLoc Exon Structure for
ST8SIA3

Expression for ST8SIA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ST8SIA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ST8SIA3 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x7.3), Brain - Caudate (basal ganglia) (x6.7), Brain - Nucleus accumbens (basal ganglia) (x6.7), Brain - Frontal Cortex (BA9) (x4.8), Brain - Anterior cingulate cortex (BA24) (x4.2), and Brain - Cortex (x4.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ST8SIA3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ST8SIA3

SOURCE GeneReport for Unigene cluster for ST8SIA3 Gene:

Hs.23172

mRNA Expression by UniProt/SwissProt for ST8SIA3 Gene:

O43173-SIA8C_HUMAN
Tissue specificity: Expressed in fetal and adult brain and fetal liver.

Evidence on tissue expression from TISSUES for ST8SIA3 Gene

  • Nervous system(4.8)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with ST8SIA3: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ST8SIA3 Gene

Orthologs for ST8SIA3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ST8SIA3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ST8SIA3 30 31
  • 99.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ST8SIA3 30 31
  • 96.14 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ST8SIA3 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ST8SIA3 30 31
  • 92.35 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia St8sia3 30 17 31
  • 92.28 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia St8sia3 30
  • 91.67 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ST8SIA3 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SIAT8C 31
  • 95 (a)
OneToMany
-- 31
  • 93 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia ST8SIA3 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia st8sia3 30
  • 78.25 (n)
Zebrafish
(Danio rerio)
Actinopterygii st8sia3 30 31
  • 72.1 (n)
OneToOne
Species where no ortholog for ST8SIA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 ST8SIA3 Gene

ENSEMBL:
Gene Tree for ST8SIA3 (if available)
TreeFam:
Gene Tree for ST8SIA3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ST8SIA3: view image

Paralogs for ST8SIA3 Gene

Paralogs for ST8SIA3 Gene

(6) SIMAP similar genes for ST8SIA3 Gene using alignment to 2 proteins:

  • SIA8C_HUMAN
  • K7EQB3_HUMAN
genes like me logo Genes that share paralogs with ST8SIA3: view

Variants for ST8SIA3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ST8SIA3 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs3745060 - p.Lys91Thr

Additional dbSNP identifiers (rs#s) for ST8SIA3 Gene

Structural Variations from Database of Genomic Variants (DGV) for ST8SIA3 Gene

Variant ID Type Subtype PubMed ID
esv2677142 CNV deletion 23128226
esv3349412 CNV duplication 20981092
nsv953551 CNV deletion 24416366

Variation tolerance for ST8SIA3 Gene

Residual Variation Intolerance Score: 30.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.41; 88.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ST8SIA3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ST8SIA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ST8SIA3 Gene

Disorders for ST8SIA3 Gene

Additional Disease Information for ST8SIA3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for ST8SIA3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ST8SIA3 Gene

Publications for ST8SIA3 Gene

  1. Differential biosynthesis of polysialic acid on neural cell adhesion molecule (NCAM) and oligosaccharide acceptors by three distinct alpha 2,8-sialyltransferases, ST8Sia IV (PST), ST8Sia II (STX), and ST8Sia III. (PMID: 10766765) Angata K … Fukuda M (The Journal of biological chemistry 2000) 3 4 23
  2. Structure of human ST8SiaIII sialyltransferase provides insight into cell-surface polysialylation. (PMID: 26192331) Volkers G … Strynadka NC (Nature structural & molecular biology 2015) 3 4
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for ST8SIA3 Gene

Sources for ST8SIA3 Gene