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Aliases for ST8SIA5 Gene

Aliases for ST8SIA5 Gene

  • ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 5 2 3 5
  • SIAT8E 2 3 4
  • Sialyltransferase St8Sia V 3 4
  • SIAT8-E 3 4
  • ST8SiaV 3 4
  • ST8 Alpha-N-Acetylneuraminate Alpha-2,8-Sialyltransferase 5 3
  • Sialyltransferase 8E (Alpha-2, 8-Polysialytransferase) 3
  • Alpha-2,8-Sialyltransferase 8E 3
  • Sialyltransferase 8E 4
  • EC 2.4.99.- 4
  • ST8Sia V 2

External Ids for ST8SIA5 Gene

Previous HGNC Symbols for ST8SIA5 Gene

  • SIAT8E

Previous GeneCards Identifiers for ST8SIA5 Gene

  • GC18M042514
  • GC18M044259
  • GC18M041116

Summaries for ST8SIA5 Gene

Entrez Gene Summary for ST8SIA5 Gene

  • The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]

GeneCards Summary for ST8SIA5 Gene

ST8SIA5 (ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 5) is a Protein Coding gene. Diseases associated with ST8SIA5 include Spastic Paraplegia 26, Autosomal Recessive. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. 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 ST8SIA6.

UniProtKB/Swiss-Prot for ST8SIA5 Gene

  • May be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b and GT3 from GD1a, GT1b, GM1b and GD3 respectively.

Additional gene information for ST8SIA5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ST8SIA5 Gene

Genomics for ST8SIA5 Gene

GeneHancer (GH) Regulatory Elements for ST8SIA5 Gene

Promoters and enhancers for ST8SIA5 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
GH18I046754 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.8 +2.9 2894 3.9 CTCF KLF1 SUZ12 ZNF704 ZNF76 ZNF335 ZFHX2 POLR2A ZBTB48 PATZ1 LOC105372097 ST8SIA5 PIAS2 HDHD2 IER3IP1 RPS21P6
GH18I046710 Enhancer 1 ENCODE dbSUPER 19.4 +47.3 47289 2.7 HDAC1 PKNOX1 ATF1 TAF9B TCF12 GATA2 ZNF366 ATF7 CREM ZNF148 ST8SIA5 PIAS2 RPS21P6 LOC105372096
GH18I046675 Enhancer 0.8 ENCODE dbSUPER 10.6 +82.6 82609 3.2 CTCF ZNF792 JUN MZF1 FEZF1 ZFHX2 ZNF26 FOXP2 EGR2 HAUS1 ST8SIA5 LOC105372096 RPS21P6
GH18I046671 Enhancer 0.4 dbSUPER 10.1 +86.7 86681 1.2 RFX1 MAX ST8SIA5 LOC105372096 RPS21P6
GH18I046718 Enhancer 0.8 Ensembl ENCODE dbSUPER 4.9 +40.4 40376 1.6 JUND ZNF366 JUN ST8SIA5 RPS21P6 LOC105372096
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ST8SIA5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ST8SIA5 gene promoter:

Genomic Locations for ST8SIA5 Gene

Genomic Locations for ST8SIA5 Gene
chr18:46,667,821-46,759,257
(GRCh38/hg38)
Size:
91,437 bases
Orientation:
Minus strand
chr18:44,259,081-44,339,220
(GRCh37/hg19)

Genomic View for ST8SIA5 Gene

Genes around ST8SIA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ST8SIA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ST8SIA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ST8SIA5 Gene

Proteins for ST8SIA5 Gene

  • Protein details for ST8SIA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15466-SIA8E_HUMAN
    Recommended name:
    Alpha-2,8-sialyltransferase 8E
    Protein Accession:
    O15466
    Secondary Accessions:
    • B7Z1K9
    • Q6IAW7

    Protein attributes for ST8SIA5 Gene

    Size:
    376 amino acids
    Molecular mass:
    43895 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ST8SIA5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ST8SIA5 Gene

Post-translational modifications for ST8SIA5 Gene

  • Glycosylation at isoforms=256, isoforms=296, isoforms=2241, and posLast=284284

No data available for DME Specific Peptides for ST8SIA5 Gene

Domains & Families for ST8SIA5 Gene

Gene Families for ST8SIA5 Gene

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

Protein Domains for ST8SIA5 Gene

Graphical View of Domain Structure for InterPro Entry

O15466

UniProtKB/Swiss-Prot:

SIA8E_HUMAN :
  • Belongs to the glycosyltransferase 29 family.
Family:
  • Belongs to the glycosyltransferase 29 family.
genes like me logo Genes that share domains with ST8SIA5: view

Function for ST8SIA5 Gene

Molecular function for ST8SIA5 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b and GT3 from GD1a, GT1b, GM1b and GD3 respectively.

Enzyme Numbers (IUBMB) for ST8SIA5 Gene

Gene Ontology (GO) - Molecular Function for ST8SIA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0008373 sialyltransferase activity TAS,IEA 9199191
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ST8SIA5: view
genes like me logo Genes that share phenotypes with ST8SIA5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ST8SIA5 Gene

Localization for ST8SIA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ST8SIA5 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 ST8SIA5 gene
Compartment Confidence
golgi apparatus 5
extracellular 3
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Midbody (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ST8SIA5 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 ST8SIA5: view

Pathways & Interactions for ST8SIA5 Gene

genes like me logo Genes that share pathways with ST8SIA5: view

UniProtKB/Swiss-Prot O15466-SIA8E_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for ST8SIA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 9199191
GO:0006486 protein glycosylation IEA --
GO:0006688 glycosphingolipid biosynthetic process TAS 9199191
GO:0097503 sialylation IEA --
genes like me logo Genes that share ontologies with ST8SIA5: view

No data available for SIGNOR curated interactions for ST8SIA5 Gene

Drugs & Compounds for ST8SIA5 Gene

No Compound Related Data Available

Transcripts for ST8SIA5 Gene

Unigene Clusters for ST8SIA5 Gene

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ST8SIA5 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12
SP1: - -
SP2: - - - -
SP3: - - - - -
SP4: - -
SP5:

Relevant External Links for ST8SIA5 Gene

GeneLoc Exon Structure for
ST8SIA5
ECgene alternative splicing isoforms for
ST8SIA5

Expression for ST8SIA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ST8SIA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ST8SIA5 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.5), Adrenal Gland (x7.4), Brain - Cerebellum (x7.1), and Brain - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for ST8SIA5 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ST8SIA5 Gene



Protein tissue co-expression partners for ST8SIA5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ST8SIA5 Gene:

ST8SIA5

SOURCE GeneReport for Unigene cluster for ST8SIA5 Gene:

Hs.465025

mRNA Expression by UniProt/SwissProt for ST8SIA5 Gene:

O15466-SIA8E_HUMAN
Tissue specificity: Expressed in fetal and adult brain, adult heart and skeletal muscle.

Evidence on tissue expression from TISSUES for ST8SIA5 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with ST8SIA5: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ST8SIA5 Gene

Orthologs for ST8SIA5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ST8SIA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ST8SIA5 33 34
  • 99.2 (n)
cow
(Bos Taurus)
Mammalia ST8SIA5 33 34
  • 94.24 (n)
dog
(Canis familiaris)
Mammalia ST8SIA5 33 34
  • 93.6 (n)
rat
(Rattus norvegicus)
Mammalia St8sia5 33
  • 86.79 (n)
mouse
(Mus musculus)
Mammalia St8sia5 33 16 34
  • 85.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ST8SIA5 34
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ST8SIA5 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ST8SIA5 33 34
  • 80.94 (n)
lizard
(Anolis carolinensis)
Reptilia ST8SIA5 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia st8sia5 33
  • 77.03 (n)
zebrafish
(Danio rerio)
Actinopterygii st8sia5 33 34
  • 71.85 (n)
Species where no ortholog for ST8SIA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 ST8SIA5 Gene

ENSEMBL:
Gene Tree for ST8SIA5 (if available)
TreeFam:
Gene Tree for ST8SIA5 (if available)

Paralogs for ST8SIA5 Gene

Paralogs for ST8SIA5 Gene

(7) SIMAP similar genes for ST8SIA5 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for ST8SIA5 Gene

genes like me logo Genes that share paralogs with ST8SIA5: view

Variants for ST8SIA5 Gene

Sequence variations from dbSNP and Humsavar for ST8SIA5 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000000329 -- 46,694,971(-) C/G intron_variant
rs1000001131 -- 46,734,632(-) G/A intron_variant
rs1000003879 -- 46,710,404(-) TTTCTTTCTTTCTTTTT/T intron_variant
rs1000033780 -- 46,734,373(-) C/A intron_variant
rs1000036476 -- 46,710,147(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ST8SIA5 Gene

Variant ID Type Subtype PubMed ID
nsv9629 CNV gain+loss 18304495
nsv953536 CNV deletion 24416366
nsv515609 CNV gain 19592680
nsv509692 CNV insertion 20534489
nsv428355 CNV gain 18775914
esv3642441 CNV gain 21293372
esv3642438 CNV gain 21293372
esv3397234 CNV duplication 20981092
esv3303000 CNV tandem duplication 20981092
esv25184 CNV gain 19812545
dgv614e214 CNV gain 21293372
dgv3345n100 CNV gain 25217958

Variation tolerance for ST8SIA5 Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.99; 36.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ST8SIA5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ST8SIA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ST8SIA5 Gene

Disorders for ST8SIA5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ST8SIA5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spastic paraplegia 26, autosomal recessive
  • spg26
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ST8SIA5

genes like me logo Genes that share disorders with ST8SIA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ST8SIA5 Gene

Publications for ST8SIA5 Gene

  1. Molecular cloning and expression of human alpha2,8-sialyltransferase (hST8Sia V). (PMID: 9199191) Kim YJ … Lee YC (Biochemical and biophysical research communications 1997) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for ST8SIA5 Gene

Sources for ST8SIA5 Gene

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