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ST8SIA1 Gene(Protein Coding)

ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 1

GCID:
GC12M022063
GIFtS:
59
Genes Participants
UDN Logo

Aliases for ST8SIA1 Gene

Aliases for ST8SIA1 Gene

  • ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 1 2 3 5
  • Sialyltransferase 8 (Alpha-N-Acetylneuraminate: Alpha-2,8-Sialytransferase, GD3 Synthase) A 2 3
  • ST8 Alpha-N-Acetylneuraminate Alpha-2,8-Sialyltransferase 1 2 3
  • Alpha-2,8-Sialyltransferase 8A 3 4
  • Sialyltransferase St8Sia I 3 4
  • Ganglioside GD3 Synthase 3 4
  • Ganglioside GT3 Synthase 3 4
  • EC 2.4.99.8 4 63
  • SIAT8-A 3 4
  • ST8SiaI 3 4
  • SIAT8A 3 4
  • SIAT8 3 4
  • Sialyltransferase 8A (Alpha-N-Acetylneuraminate: Alpha-2,8-Sialyltransferase, GD3 Synthase) 3
  • Ganglioside-Specific Alpha-2,8-Polysialyltransferase 3
  • Disialoganglioside (GD3) Synthase 3
  • Sialytransferase St8Sia I 3
  • Sialyltransferase 8A 4
  • ST8Sia I 2
  • GD3S 3

External Ids for ST8SIA1 Gene

Previous HGNC Symbols for ST8SIA1 Gene

  • SIAT8
  • SIAT8A

Previous GeneCards Identifiers for ST8SIA1 Gene

  • GC12M022246
  • GC12M022119

Summaries for ST8SIA1 Gene

Entrez Gene Summary for ST8SIA1 Gene

  • Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]

GeneCards Summary for ST8SIA1 Gene

ST8SIA1 (ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 1) is a Protein Coding gene. Among its related pathways are Glycosphingolipid biosynthesis - ganglio series and Glycosphingolipid biosynthesis - globo series. 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 ST8SIA6.

UniProtKB/Swiss-Prot for ST8SIA1 Gene

  • Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid.

Gene Wiki entry for ST8SIA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ST8SIA1 Gene

Genomics for ST8SIA1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ST8SIA1 Gene

Enhancers for ST8SIA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ST8SIA1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ST8SIA1 gene promoter:

Genomic Location for ST8SIA1 Gene

Chromosome:
12
Start:
22,063,773 bp from pter
End:
22,437,041 bp from pter
Size:
373,269 bases
Orientation:
Minus strand

Genomic View for ST8SIA1 Gene

Genes around ST8SIA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ST8SIA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ST8SIA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ST8SIA1 Gene

Proteins for ST8SIA1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ST8SIA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92185-SIA8A_HUMAN
    Recommended name:
    Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase
    Protein Accession:
    Q92185
    Secondary Accessions:
    • A8K4H6
    • Q17RL0
    • Q6PZN5
    • Q93064

    Protein attributes for ST8SIA1 Gene

    Size:
    356 amino acids
    Molecular mass:
    40519 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC37586.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA54891.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ST8SIA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ST8SIA1 Gene

Proteomics data for ST8SIA1 Gene at MOPED

Protein Expression for ST8SIA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ST8SIA1 Gene

Q92185:

Post-translational modifications for ST8SIA1 Gene

  • Glycosylation at Asn 71, Asn 119, Asn 214, and Asn 245
  • Modification sites at PhosphoSitePlus

Other Protein References for ST8SIA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for ST8SIA1 ("ST8 alpha-2,8-Sialyltransferase 8A/ST8SIA1")

Domains & Families for ST8SIA1 Gene

Gene Families for ST8SIA1 Gene

HGNC:

Protein Domains for ST8SIA1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ST8SIA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92185

UniProtKB/Swiss-Prot:

SIA8A_HUMAN :
  • Belongs to the glycosyltransferase 29 family.
Family:
  • Belongs to the glycosyltransferase 29 family.
genes like me logo Genes that share domains with ST8SIA1: view

Function for ST8SIA1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for ST8SIA1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CMP-N-acetylneuraminate + alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-R = CMP + alpha-N-acetylneuraminyl-(2->8)-alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-R.
UniProtKB/Swiss-Prot Function:
Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid.

Enzyme Numbers (IUBMB) for ST8SIA1 Gene

Gene Ontology (GO) - Molecular Function for ST8SIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity IEA,TAS --
genes like me logo Genes that share ontologies with ST8SIA1: view

Phenotypes for ST8SIA1 Gene

MGI mutant phenotypes for ST8SIA1:
inferred from 2 alleles
GenomeRNAi human phenotypes for ST8SIA1:
genes like me logo Genes that share phenotypes with ST8SIA1: view

Animal Models for ST8SIA1 Gene

MGI Knock Outs for ST8SIA1:

Animal Model Products

miRNA for ST8SIA1 Gene

miRTarBase miRNAs that target ST8SIA1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ST8SIA1 Gene

Localization for ST8SIA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ST8SIA1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ST8SIA1 Gene COMPARTMENTS Subcellular localization image for ST8SIA1 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ST8SIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
genes like me logo Genes that share ontologies with ST8SIA1: view

Pathways & Interactions for ST8SIA1 Gene

genes like me logo Genes that share pathways with ST8SIA1: view

UniProtKB/Swiss-Prot Q92185-SIA8A_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.
  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for ST8SIA1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000379353%0d%0a9606.ENSP00000358565%0d%0a9606.ENSP00000377717%0d%0a9606.ENSP00000366549%0d%0a9606.ENSP00000318142%0d%0a9606.ENSP00000252675%0d%0a
Selected Interacting proteins: ENSP00000379353 for ST8SIA1 Gene via STRING

Gene Ontology (GO) - Biological Process for ST8SIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 8195250
GO:0006486 protein glycosylation IEA --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with ST8SIA1: view

No data available for SIGNOR curated interactions for ST8SIA1 Gene

Drugs & Compounds for ST8SIA1 Gene

Products:

  1. Drug

(61) Additional Compounds for ST8SIA1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
 63-37-6
Cytidine monophosphate N-acetylneuraminic acid
  • CMP-N-Acetylneuraminate
  • CMP-N-Acylneuraminate
  • CMP-NeuNAc
  • Cytidine 5'-monophosphate N-acetylneuraminic acid
  • Cytidine Monophosphate N-Acetylneuraminate
 22-12-8
Ganglioside GD3 (d18:1/12:0)
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-delta-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • Ganglioside GD3
  • Ganglioside Glac2
  • GD3
 104443-61-0
Ganglioside GD3 (d18:1/16:0)
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-delta-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • Ganglioside GD3
  • Ganglioside Glac2
  • GD3
 104443-61-0
Ganglioside GD3 (d18:1/20:0)
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-delta-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • Ganglioside GD3
  • Ganglioside Glac2
  • GD3
 104443-61-0
genes like me logo Genes that share compounds with ST8SIA1: view

Transcripts for ST8SIA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ST8SIA1 Gene

(4) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(61) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ST8SIA1 Gene

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ST8SIA1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d
SP1: - - -
SP2: - - - -
SP3:
SP4: -
SP5:

Relevant External Links for ST8SIA1 Gene

GeneLoc Exon Structure for
ST8SIA1
ECgene alternative splicing isoforms for
ST8SIA1

Expression for ST8SIA1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for ST8SIA1 Gene

mRNA expression in normal human tissues for ST8SIA1 Gene
mRNA expression by BioGPS for ST8SIA1 GenemRNA expression by GTEx for ST8SIA1 Gene

mRNA differential expression in normal tissues according to GTEx for ST8SIA1 Gene

This gene is overexpressed in Brain - Cerebellum (x4.0) and Brain - Cerebellar Hemisphere (x4.0).

Protein differential expression in normal tissues from HIPED for ST8SIA1 Gene

This gene is overexpressed in Plasma (42.0) and Heart (27.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ST8SIA1 Gene



SOURCE GeneReport for Unigene cluster for ST8SIA1 Gene Hs.408614

mRNA Expression by UniProt/SwissProt for ST8SIA1 Gene

Q92185-SIA8A_HUMAN
Tissue specificity: Strongly expressed in melanoma cell lines, adult and fetal brain and to a lesser extent in adult and fetal lung.
genes like me logo Genes that share expression patterns with ST8SIA1: view

Protein tissue co-expression partners for ST8SIA1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ST8SIA1 Gene

Orthologs for ST8SIA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ST8SIA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia ST8SIA1 35
  • 92.79 (n)
  • 96.07 (a)
ST8SIA1 36
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ST8SIA1 35
  • 94.01 (n)
  • 98.31 (a)
ST8SIA1 36
  • 98 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia St8sia1 35
  • 87.42 (n)
  • 91.83 (a)
St8sia1 16
St8sia1 36
  • 92 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia ST8SIA1 35
  • 99.44 (n)
  • 99.44 (a)
ST8SIA1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia St8sia1 35
  • 87.04 (n)
  • 91.27 (a)
oppossum
(Monodelphis domestica)
 Mammalia ST8SIA1 36
  • 72 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ST8SIA1 35
  • 79.57 (n)
  • 82.11 (a)
ST8SIA1 36
  • 82 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ST8SIA1 36
  • 81 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia LOC398735 35
zebrafish
(Danio rerio)
 Actinopterygii LOC100333872 35
  • 66.46 (n)
  • 65.11 (a)
st8sia1 36
  • 62 (a)
 OneToMany
st8sia1 36
  • 62 (a)
 OneToMany
Species with no ortholog for ST8SIA1:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ST8SIA1 Gene

ENSEMBL:
Gene Tree for ST8SIA1 (if available)
TreeFam:
Gene Tree for ST8SIA1 (if available)

Paralogs for ST8SIA1 Gene

Paralogs for ST8SIA1 Gene

(8) SIMAP similar genes for ST8SIA1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ST8SIA1: view

Variants for ST8SIA1 Gene

Sequence variations from dbSNP and Humsavar for ST8SIA1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1960265 -- 22,276,941(+) CTACA(C/T)TGGCT intron-variant
rs1985103 -- 22,281,907(+) ggagg(C/T)ggagg intron-variant
rs1987940 -- 22,276,435(+) GAGCA(A/C)CCCCC intron-variant
rs2009625 -- 22,172,311(-) GCAAA(A/G)TGGCA intron-variant
rs2012613 -- 22,273,488(-) TTTCA(C/T)TGAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ST8SIA1 Gene

Variant ID Type Subtype PubMed ID
essv14178 CNV CNV 17122850
dgv482e1 CNV Complex 17122850
nsv482978 CNV Loss 15286789
nsv521274 CNV Loss 19592680
esv33913 CNV Gain 17666407
esv269014 CNV Insertion 20981092
nsv435637 CNV Deletion 17901297
esv23565 CNV Loss 19812545
essv12236 CNV CNV 17122850

Variation tolerance for ST8SIA1 Gene

Residual Variation Intolerance Score: 37.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.81% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ST8SIA1 Gene

Disorders for ST8SIA1 Gene

Relevant External Links for ST8SIA1

Genetic Association Database (GAD)
ST8SIA1
Human Genome Epidemiology (HuGE) Navigator
ST8SIA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ST8SIA1

No disorders were found for ST8SIA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ST8SIA1 Gene

Publications for ST8SIA1 Gene

  1. Variants of ST8SIA1 are associated with risk of developing multiple sclerosis. (PMID: 18612409) Husain S. … Vitale E. (PLoS ONE 2008) 3 23 48 67
  2. Gene expression of ceramide kinase, galactosyl ceramide synthase and ganglioside GD3 synthase is associated with prognosis in breast cancer. (PMID: 19125296) RuckhAoberle E. … Kaufmann M. (J. Cancer Res. Clin. Oncol. 2009) 3 23
  3. Variants in ST8SIA1 do not play a major role in susceptibility to multiple sclerosis in Canadian families. (PMID: 19428123) Ramagopalan S.V. … Ebers G.C. (J. Neuroimmunol. 2009) 3 23
  4. Chromosome mapping of the GD3 synthase gene (SIAT8) in human and mouse. (PMID: 8786103) Matsuda Y. … Sanai Y. (Genomics 1996) 3 23
  5. Isolation of GD3 synthase gene by expression cloning of GM3 alpha- 2,8-sialyltransferase cDNA using anti-GD2 monoclonal antibody. (PMID: 7937974) Haraguchi M. … Furukawa K. (Proc. Natl. Acad. Sci. U.S.A. 1994) 3 23

Products for ST8SIA1 Gene

Sources for ST8SIA1 Gene

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