ST8SIA3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ST8SIA3provided by HGNC
Official Full Name: ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3provided by HGNC
Primary source: HGNC:HGNC:14269
See related: Ensembl:ENSG00000177511 MIM:609478; AllianceGenome:HGNC:14269
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SIAT8C; ST8SiaIII
Summary: Enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity and identical protein binding activity. Involved in several processes, including N-glycan processing; ganglioside biosynthetic process; and sialylation. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 16.9) and adrenal (RPKM 2.9) See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.31

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (57352557..57368931)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (57553442..57569818)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (55019788..55036162)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data indicate that the crystal structure of ST8SiaIII sialyltransferase show a cluster of polysialyltransferase-specific structural motifs that provide an extended electropositive surface groove for binding of oligo-polysialic acid chain products.
Title: Structure of human ST8SiaIII sialyltransferase provides insight into cell-surface polysialylation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
These results suggest that the expression of hST8Sia III gene via the PI-3K signaling pathway is enhanced during KCl-induced differentiation of U-87 cells by increasing expression of beta-tubulin III.
Title: Molecular mechanisms involved in transcriptional activation of the human Sia-alpha2,3-Gal-beta1,4-GlcNAc-R:alpha2,8-sialyltransferase (hST8Sia III) gene induced by KCl in human glioblastoma cells.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47620 (e-PCR)
- UniSTS:52736

RH12286 (e-PCR)
- UniSTS:8477

Siat8c (e-PCR), detects polymorphism
- UniSTS:261922

D18S1245 (e-PCR)
- UniSTS:61853

SIAT8C__5411 (e-PCR)
- UniSTS:464546

D18S916E (e-PCR)
- UniSTS:80097

NoName (e-PCR)
- UniSTS:482024

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	TAS Traceable Author Statement more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sialic acid binding	IC Inferred by Curator more info	PubMed

Process	Evidence Code	Pubs
involved_in N-glycan processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in N-glycan processing	IDA Inferred from Direct Assay more info	PubMed
involved_in ganglioside biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycoprotein metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycosphingolipid biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in oligosaccharide metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in oligosaccharide metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info
involved_in sialylation	IDA Inferred from Direct Assay more info	PubMed
involved_in sialylation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3

Names: SIAT8-C; ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 3; alpha-2,8-sialyltransferase 8C; alpha-2,8-sialyltransferase III; ganglioside GD3 synthase ST8SIA3; hST8Sia III; sia-a2,3-Gal-b1,4-Glc-NAc-R:a2,8-sialyltransferase; sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase; sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase); sialyltransferase St8Sia III; sialytransferase St8Sia III

NP_056963.2

EC 2.4.3.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.