Description: Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA. RefSeq Summary (NM_005668): The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr5:100,142,639-100,238,987 Size: 96,349 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr5:100,147,551-100,238,659 Size: 91,109 Coding Exon Count: 5
ID:SIA8D_HUMAN DESCRIPTION: RecName: Full=CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase; EC=2.4.99.-; AltName: Full=Alpha-2,8-sialyltransferase 8D; AltName: Full=Polysialyltransferase-1; AltName: Full=Sialyltransferase 8D; Short=SIAT8-D; AltName: Full=Sialytransferase St8Sia IV; Short=ST8SiaIV; FUNCTION: Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells. PATHWAY: Protein modification; protein glycosylation. SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (Potential). TISSUE SPECIFICITY: Highly expressed in fetal brain, lung and kidney and in adult heart, spleen and thymus. Present to a lesser extent in adult brain, placenta, lung, large and small intestine and peripheral blood leukocytes. 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=ST8SIA4"; WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=ST8Sia IV; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_639";
Albuminuria Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics.
[PubMed 17903292]
Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
Blood Pressure Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics.
[PubMed 17903302]
These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
Blood Pressure Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics.
[PubMed 17903303]
The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
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.
Pfam Domains: PF00777 - Glycosyltransferase family 29 (sialyltransferase)
ModBase Predicted Comparative 3D Structure on Q92187
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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.
Biological Process: GO:0001574 ganglioside biosynthetic process GO:0006464 cellular protein modification process GO:0006486 protein glycosylation GO:0006491 N-glycan processing GO:0007399 nervous system development GO:0009311 oligosaccharide metabolic process GO:0097503 sialylation
BC040671 - Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4, mRNA (cDNA clone IMAGE:4816784). DL492306 - Novel nucleic acids. DL490801 - Novel nucleic acids. JD362513 - Sequence 343537 from Patent EP1572962. JD381327 - Sequence 362351 from Patent EP1572962. JD069997 - Sequence 51021 from Patent EP1572962. BC053657 - Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4, mRNA (cDNA clone MGC:61459 IMAGE:5752337), complete cds. L41680 - Homo sapiens alpha-2,8-polysialyltransferase (PST) gene, complete cds. JD514805 - Sequence 495829 from Patent EP1572962. JD324147 - Sequence 305171 from Patent EP1572962. JD314567 - Sequence 295591 from Patent EP1572962. JD546743 - Sequence 527767 from Patent EP1572962. JD171259 - Sequence 152283 from Patent EP1572962. AK292872 - Homo sapiens cDNA FLJ75830 complete cds, highly similar to Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA. JD168079 - Sequence 149103 from Patent EP1572962. JD111322 - Sequence 92346 from Patent EP1572962. AB529101 - Synthetic construct DNA, clone: pF1KB4480, Homo sapiens ST8SIA4 gene for ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4, without stop codon, in Flexi system. BC027866 - Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4, mRNA (cDNA clone IMAGE:5203343), complete cds. CU693302 - Synthetic construct Homo sapiens gateway clone IMAGE:100017952 5' read ST8SIA4 mRNA. HQ448744 - Synthetic construct Homo sapiens clone IMAGE:100072190; CCSB008773_01 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4) gene, encodes complete protein. KJ897792 - Synthetic construct Homo sapiens clone ccsbBroadEn_07186 ST8SIA4 gene, encodes complete protein. JD426146 - Sequence 407170 from Patent EP1572962. JD513719 - Sequence 494743 from Patent EP1572962. JD184346 - Sequence 165370 from Patent EP1572962. JD106554 - Sequence 87578 from Patent EP1572962. JD360442 - Sequence 341466 from Patent EP1572962. JD362423 - Sequence 343447 from Patent EP1572962. JD048835 - Sequence 29859 from Patent EP1572962. JD199937 - Sequence 180961 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00604 - Glycosphingolipid biosynthesis - ganglio series
BioCarta from NCI Cancer Genome Anatomy Project h_aMANpathway - Steps in the Glycosylation of Mammalian N-linked Oligosaccarides
Reactome (by CSHL, EBI, and GO)
Protein Q92187 (Reactome details) participates in the following event(s):
R-HSA-422454 Polysialylation of NCAM1 R-HSA-4084978 ST8SIA1-6 transfer Neu5Ac to terminal Neu5Ac residues R-HSA-419037 NCAM1 interactions R-HSA-4085001 Sialic acid metabolism R-HSA-375165 NCAM signaling for neurite out-growth R-HSA-446219 Synthesis of substrates in N-glycan biosythesis R-HSA-422475 Axon guidance R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-1266738 Developmental Biology R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins