Human Gene ST8SIA5 (ENST00000538168.5) from GENCODE V44
  Description: Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), transcript variant 1, mRNA. (from RefSeq NM_001307986)
RefSeq Summary (NM_001307986): 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].
Gencode Transcript: ENST00000538168.5
Gencode Gene: ENSG00000101638.14
Transcript (Including UTRs)
   Position: hg38 chr18:46,667,821-46,756,809 Size: 88,989 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr18:46,680,042-46,756,508 Size: 76,467 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:46,667,821-46,756,809)mRNA (may differ from genome)Protein (412 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHGNC
LynxMGIneXtProtOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SIA8E_HUMAN
DESCRIPTION: RecName: Full=Alpha-2,8-sialyltransferase 8E; EC=2.4.99.-; AltName: Full=Sialyltransferase 8E; Short=SIAT8-E; AltName: Full=Sialytransferase St8Sia V; Short=ST8SiaV;
FUNCTION: May be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b and GT3 from GD1a, GT1b, GM1b and GD3 respectively.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (Potential).
TISSUE SPECIFICITY: Expressed in fetal and adult brain, adult heart and skeletal muscle.
SIMILARITY: Belongs to the glycosyltransferase 29 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST8SIA5";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=ST8Sia V; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_640";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ST8SIA5
Diseases sorted by gene-association score: spastic paraplegia 26, autosomal recessive (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.84 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 66.92 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -137.70301-0.457 Picture PostScript Text
3' UTR -4417.3012221-0.361 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001675 - Glyco_trans_29
IPR012163 - Sialyl_trans

Pfam Domains:
PF00777 - Glycosyltransferase family 29 (sialyltransferase)

ModBase Predicted Comparative 3D Structure on O15466
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity
GO:0005515 protein binding
GO:0008373 sialyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006486 protein glycosylation
GO:0006688 glycosphingolipid biosynthetic process
GO:0097503 sialylation

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK090499 - Homo sapiens cDNA FLJ33180 fis, clone ADRGL2003638.
AX746482 - Sequence 7 from Patent EP1308459.
AK054755 - Homo sapiens cDNA FLJ30193 fis, clone BRACE2001340.
JD372299 - Sequence 353323 from Patent EP1572962.
JD276473 - Sequence 257497 from Patent EP1572962.
JD467283 - Sequence 448307 from Patent EP1572962.
JD480727 - Sequence 461751 from Patent EP1572962.
JD374197 - Sequence 355221 from Patent EP1572962.
JD230706 - Sequence 211730 from Patent EP1572962.
JD339012 - Sequence 320036 from Patent EP1572962.
JD114406 - Sequence 95430 from Patent EP1572962.
JD355369 - Sequence 336393 from Patent EP1572962.
AK095045 - Homo sapiens cDNA FLJ37726 fis, clone BRHIP2019819.
JD103727 - Sequence 84751 from Patent EP1572962.
JD282850 - Sequence 263874 from Patent EP1572962.
JD126741 - Sequence 107765 from Patent EP1572962.
JD276298 - Sequence 257322 from Patent EP1572962.
JD518845 - Sequence 499869 from Patent EP1572962.
JD352906 - Sequence 333930 from Patent EP1572962.
JD318067 - Sequence 299091 from Patent EP1572962.
JD072879 - Sequence 53903 from Patent EP1572962.
JD070637 - Sequence 51661 from Patent EP1572962.
JD535474 - Sequence 516498 from Patent EP1572962.
JD355680 - Sequence 336704 from Patent EP1572962.
JD503013 - Sequence 484037 from Patent EP1572962.
JD267235 - Sequence 248259 from Patent EP1572962.
JD152964 - Sequence 133988 from Patent EP1572962.
JD133276 - Sequence 114300 from Patent EP1572962.
JD416680 - Sequence 397704 from Patent EP1572962.
JD321219 - Sequence 302243 from Patent EP1572962.
JD281406 - Sequence 262430 from Patent EP1572962.
JD491995 - Sequence 473019 from Patent EP1572962.
JD160759 - Sequence 141783 from Patent EP1572962.
JD562375 - Sequence 543399 from Patent EP1572962.
JD353676 - Sequence 334700 from Patent EP1572962.
JD342928 - Sequence 323952 from Patent EP1572962.
JD528964 - Sequence 509988 from Patent EP1572962.
JD171551 - Sequence 152575 from Patent EP1572962.
JD360036 - Sequence 341060 from Patent EP1572962.
JD049444 - Sequence 30468 from Patent EP1572962.
JD064897 - Sequence 45921 from Patent EP1572962.
JD471173 - Sequence 452197 from Patent EP1572962.
JD518556 - Sequence 499580 from Patent EP1572962.
JD502409 - Sequence 483433 from Patent EP1572962.
JD085256 - Sequence 66280 from Patent EP1572962.
JD057100 - Sequence 38124 from Patent EP1572962.
JD526470 - Sequence 507494 from Patent EP1572962.
JD213472 - Sequence 194496 from Patent EP1572962.
JD341579 - Sequence 322603 from Patent EP1572962.
AK094273 - Homo sapiens cDNA FLJ36954 fis, clone BRACE2005800, highly similar to Alpha-2,8-sialyltransferase 8E (EC 2.4.99.-).
AK056270 - Homo sapiens cDNA FLJ31708 fis, clone NT2RI2006271, highly similar to Alpha-2,8-sialyltransferase 8E (EC 2.4.99.-).
AK130126 - Homo sapiens cDNA FLJ26616 fis, clone MPB06888, highly similar to Homo sapiens sialyltransferase 8E (alpha-2, 8-polysialyltransferase) (SIAT8E).
JD521864 - Sequence 502888 from Patent EP1572962.
U91641 - Human alpha2,8-sialyltransferase mRNA, complete cds.
BC108910 - Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5, mRNA (cDNA clone MGC:119670 IMAGE:40011279), complete cds.
BC108911 - Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5, mRNA (cDNA clone MGC:119671 IMAGE:40011281), complete cds.
JD317866 - Sequence 298890 from Patent EP1572962.
JD438200 - Sequence 419224 from Patent EP1572962.
JD453026 - Sequence 434050 from Patent EP1572962.
AK293608 - Homo sapiens cDNA FLJ60231 complete cds, highly similar to Alpha-2,8-sialyltransferase 8E (EC 2.4.99.-).
JD189069 - Sequence 170093 from Patent EP1572962.
JD542445 - Sequence 523469 from Patent EP1572962.
JD460417 - Sequence 441441 from Patent EP1572962.
JD492585 - Sequence 473609 from Patent EP1572962.
JD483155 - Sequence 464179 from Patent EP1572962.
JD241469 - Sequence 222493 from Patent EP1572962.
JD552028 - Sequence 533052 from Patent EP1572962.
JD327120 - Sequence 308144 from Patent EP1572962.
AK298881 - Homo sapiens cDNA FLJ52727 complete cds, highly similar to Alpha-2,8-sialyltransferase 8E (EC 2.4.99.-).
JD525556 - Sequence 506580 from Patent EP1572962.
JD467153 - Sequence 448177 from Patent EP1572962.
JD405752 - Sequence 386776 from Patent EP1572962.
JD482984 - Sequence 464008 from Patent EP1572962.
JD408306 - Sequence 389330 from Patent EP1572962.
KJ893706 - Synthetic construct Homo sapiens clone ccsbBroadEn_03100 ST8SIA5 gene, encodes complete protein.
CR457037 - Homo sapiens full open reading frame cDNA clone RZPDo834C0218D for gene SIAT8E, sialyltransferase 8E (alpha-2, 8-polysialyltransferase); complete cds, incl. stopcodon.
AK310764 - Homo sapiens cDNA, FLJ17806.
JD461217 - Sequence 442241 from Patent EP1572962.
JD393205 - Sequence 374229 from Patent EP1572962.
JD044913 - Sequence 25937 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00604 - Glycosphingolipid biosynthesis - ganglio series
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein O15466 (Reactome details) participates in the following event(s):

R-HSA-4084978 ST8SIA1-6 transfer Neu5Ac to terminal Neu5Ac residues
R-HSA-4085001 Sialic acid metabolism
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000538168.1, ENST00000538168.2, ENST00000538168.3, ENST00000538168.4, NM_001307986, O15466, Q6IAW7, SIA8E_HUMAN, SIAT8E, uc010xcy.1, uc010xcy.2
UCSC ID: ENST00000538168.5
RefSeq Accession: NM_001307986
Protein: O15466 (aka SIA8E_HUMAN or SI8E_HUMAN)
CCDS: CCDS77184.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.